Canonical Allele Identifier: CA378079125

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104070528G>A , CM000672.2:g.104070528G>A	GRCh38
NC_000010.10:g.105830286G>A , CM000672.1:g.105830286G>A	GRCh37
NC_000010.9:g.105820276G>A	NCBI36
NG_007069.1:g.20353C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000494.4:c.505C>T MANE Select	NP_000485.3:p.Arg169Ter
ENST00000648076.2:c.505C>T MANE Select	ENSP00000497653.1:p.Arg169Ter
NM_000494.3:c.505C>T	NP_000485.3:p.Arg169Ter
ENST00000353479.9:c.505C>T	ENSP00000340937.5:p.Arg169Ter
ENST00000369733.7:c.505C>T	ENSP00000358748.3:p.Arg169Ter
ENST00000369733.8:c.505C>T	ENSP00000358748.3:p.Arg169Ter
ENST00000393211.3:c.505C>T	ENSP00000376905.3:p.Arg169Ter
ENST00000483876.1:n.555C>T
ENST00000649118.1:n.620C>T
ENST00000650263.1:c.457C>T	ENSP00000497850.1:p.Arg153Ter