Canonical Allele Identifier: CA7369706

Gene: ASPG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104105417G>A , CM000676.2:g.104105417G>A	GRCh38
NC_000014.8:g.104571754G>A , CM000676.1:g.104571754G>A	GRCh37
NC_000014.7:g.103641507G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551177.6:c.1140G>A MANE Select	ENSP00000450040.1:p.Gly380=
ENST00000546892.6:c.1140G>A	ENSP00000448911.2:p.Gly380=
ENST00000548372.5:n.1974G>A
ENST00000549809.5:n.206G>A
ENST00000551177.5:c.1140G>A	ENSP00000450040.1:p.Gly380=
ENST00000552126.1:n.173G>A
NM_001080464.2:c.1140G>A	NP_001073933.2:p.Gly380=
XM_005267590.3:c.1140G>A	XP_005267647.1:p.Gly380=
XM_006720132.2:c.1140G>A	XP_006720195.1:p.Gly380=
XM_011536737.1:c.1140G>A	XP_011535039.1:p.Gly380=
XM_011536738.1:c.1140G>A	XP_011535040.1:p.Gly380=
XM_011536739.1:c.1140G>A	XP_011535041.1:p.Gly380=
XM_011536740.1:c.1140G>A	XP_011535042.1:p.Gly380=
XR_943428.1:n.1240G>A
XM_005267590.4:c.1140G>A	XP_005267647.1:p.Gly380=
XM_017021265.1:c.1224G>A	XP_016876754.1:p.Gly408=
XM_017021266.1:c.1224G>A	XP_016876755.1:p.Gly408=
XM_017021267.1:c.1224G>A	XP_016876756.1:p.Gly408=
XM_017021268.1:c.1140G>A	XP_016876757.1:p.Gly380=
XM_017021269.1:c.1224G>A	XP_016876758.1:p.Gly408=
XM_017021270.1:c.1224G>A	XP_016876759.1:p.Gly408=
XM_017021271.1:c.1224G>A	XP_016876760.1:p.Gly408=
XM_017021272.1:c.1224G>A	XP_016876761.1:p.Gly408=
XM_017021273.1:c.1224G>A	XP_016876762.1:p.Gly408=
XM_017021274.1:c.1011G>A	XP_016876763.1:p.Gly337=
XM_017021275.1:c.1224G>A	XP_016876764.1:p.Gly408=
XM_017021276.1:c.1224G>A	XP_016876765.1:p.Gly408=
XR_001750304.1:n.1692G>A
NM_001080464.3:c.1140G>A MANE Select	NP_001073933.2:p.Gly380=