Human (GRCh38.p14)
Description

collagen type XVII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2194]

Gene Synonyms

BP180, BPAG2

Location

Chromosome 10: 104,031,286-104,085,880 reverse strand.

GRCh38:CM000672.2

About this gene

This gene has 10 transcripts (splice variants), 98 orthologues, 37 paralogues and is associated with 8 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000648076.2COL17A1-20856121497aaENSP00000497653.1
 
Protein coding
CCDS7554Q9UMD9-1 NM_000494.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS ALT2
ENST00000369733.8COL17A1-20151971415aaENSP00000358748.3
 
Protein coding
Q9UMD9-2 -GENCODE basicAPPRIS P4TSL:5
ENST00000650263.1COL17A1-2101915604aaENSP00000497850.1
 
Protein coding
A0A3B3ITM2 -CDS 3' incomplete
ENST00000393211.3COL17A1-2021610417aaENSP00000376905.3
 
Protein coding
A2A2Y8 -GENCODE basicTSL:1
ENST00000433822.1COL17A1-20353766aaENSP00000388832.1
 
Protein coding
H0Y420 -TSL:5CDS 5' incomplete
ENST00000647647.1COL17A1-207164063aaENSP00000497865.1
 
Nonsense mediated decay
A0A3B3ITP5 -CDS 5' incomplete
ENST00000488320.1COL17A1-206626152aaENSP00000497253.1
 
Nonsense mediated decay
A0A3B3ISI7 -TSL:5CDS 5' incomplete
ENST00000483876.1COL17A1-205622122aaENSP00000498135.1
 
Nonsense mediated decay
A0A3B3IUC2 -TSL:5CDS 5' incomplete
ENST00000649118.1COL17A1-2091513No protein-
 
Retained intron
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ENST00000480127.2COL17A1-204414No protein-
 
Retained intron
--TSL:3