Canonical Allele Identifier: CA1933420765

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037664C= , CM000672.2:g.104037664C=	GRCh38
NC_000010.10:g.105797422C= , CM000672.1:g.105797422C=	GRCh37
NC_000010.9:g.105787412C=	NCBI36
NG_007069.1:g.53217G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.3045G=	ENSP00000358748.3:p.Leu1015=
ENST00000648076.2:c.3180G= MANE Select	ENSP00000497653.1:p.Leu1060=
ENST00000353479.9:c.3180G=	ENSP00000340937.5:p.Leu1060=
ENST00000369733.7:c.3045G=	ENSP00000358748.3:p.Leu1015=
NM_000494.3:c.3180G=	NP_000485.3:p.Leu1060=
NM_000494.4:c.3180G= MANE Select	NP_000485.3:p.Leu1060=