Canonical Allele Identifier: CA1933374485

Gene: COL17A1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104064485G= , CM000672.2:g.104064485G=	GRCh38
NC_000010.10:g.105824243G= , CM000672.1:g.105824243G=	GRCh37
NC_000010.9:g.105814233G=	NCBI36
NG_007069.1:g.26396C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.719C=	ENSP00000358748.3:p.Thr240=
ENST00000648076.2:c.719C= MANE Select	ENSP00000497653.1:p.Thr240=
ENST00000649118.1:n.834C=
ENST00000650263.1:c.671C=	ENSP00000497850.1:p.Thr224=
ENST00000353479.9:c.719C=	ENSP00000340937.5:p.Thr240=
ENST00000369733.7:c.719C=	ENSP00000358748.3:p.Thr240=
ENST00000393211.3:c.719C=	ENSP00000376905.3:p.Thr240=
ENST00000488320.1:n.64C=
NM_000494.3:c.719C=	NP_000485.3:p.Thr240=
NM_000494.4:c.719C= MANE Select	NP_000485.3:p.Thr240=