Canonical Allele Identifier: CA1933418723

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104034637C= , CM000672.2:g.104034637C=	GRCh38
NC_000010.10:g.105794395C= , CM000672.1:g.105794395C=	GRCh37
NC_000010.9:g.105784385C=	NCBI36
NG_007069.1:g.56244G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.3504G=	ENSP00000358748.3:p.Leu1168=
ENST00000648076.2:c.3750G= MANE Select	ENSP00000497653.1:p.Leu1250=
ENST00000353479.9:c.3750G=	ENSP00000340937.5:p.Leu1250=
ENST00000369733.7:c.3504G=	ENSP00000358748.3:p.Leu1168=
NM_000494.3:c.3750G=	NP_000485.3:p.Leu1250=
NM_000494.4:c.3750G= MANE Select	NP_000485.3:p.Leu1250=