Canonical Allele Identifier: CA1933402987

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104053084A= , CM000672.2:g.104053084A=	GRCh38
NC_000010.10:g.105812842A= , CM000672.1:g.105812842A=	GRCh37
NC_000010.9:g.105802832A=	NCBI36
NG_007069.1:g.37797T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.1886T=	ENSP00000358748.3:p.Met629=
ENST00000648076.2:c.1886T= MANE Select	ENSP00000497653.1:p.Met629=
ENST00000353479.9:c.1886T=	ENSP00000340937.5:p.Met629=
ENST00000369733.7:c.1886T=	ENSP00000358748.3:p.Met629=
NM_000494.3:c.1886T=	NP_000485.3:p.Met629=
NM_000494.4:c.1886T= MANE Select	NP_000485.3:p.Met629=