Canonical Allele Identifier: CA1933420777

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037695A= , CM000672.2:g.104037695A=	GRCh38
NC_000010.10:g.105797453A= , CM000672.1:g.105797453A=	GRCh37
NC_000010.9:g.105787443A=	NCBI36
NG_007069.1:g.53186T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.3014T=	ENSP00000358748.3:p.Ile1005=
ENST00000648076.2:c.3149T= MANE Select	ENSP00000497653.1:p.Ile1050=
ENST00000353479.9:c.3149T=	ENSP00000340937.5:p.Ile1050=
ENST00000369733.7:c.3014T=	ENSP00000358748.3:p.Ile1005=
NM_000494.3:c.3149T=	NP_000485.3:p.Ile1050=
NM_000494.4:c.3149T= MANE Select	NP_000485.3:p.Ile1050=