Canonical Allele Identifier: CA1410031394

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009390C= , CM000665.2:g.149009390C=	GRCh38
NC_000003.11:g.148727177C= , CM000665.1:g.148727177C=	GRCh37
NC_000003.10:g.150209867C=	NCBI36
NG_027677.1:g.22983C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.596C= MANE Select	ENSP00000340736.4:p.Pro199=
ENST00000296048.10:c.596C=	ENSP00000296048.6:p.Pro199=
ENST00000345003.8:c.596C=	ENSP00000340736.4:p.Pro199=
ENST00000461191.1:c.584C=	ENSP00000420247.1:p.Pro195=
ENST00000469873.1:n.510C=
ENST00000479119.1:n.212C=
ENST00000483267.5:c.469+12498C=	ENSP00000419499.1:n.469+12498C=
ENST00000484197.5:c.596C=	ENSP00000420683.1:p.Pro199=
ENST00000627418.2:c.469+12498C=	ENSP00000486061.1:n.469+12498C=
NM_001184720.1:c.596C=	NP_001171649.1:p.Pro199=
NM_001184721.1:c.596C=	NP_001171650.1:p.Pro199=
NM_004130.3:c.596C=	NP_004121.2:p.Pro199=
XM_017006275.1:c.419C=	XP_016861764.1:p.Pro140=
XM_017006276.1:c.134C=	XP_016861765.1:p.Pro45=
NM_004130.4:c.596C= MANE Select	NP_004121.2:p.Pro199=
NM_001184720.2:c.596C=	NP_001171649.1:p.Pro199=
NM_001184721.2:c.596C=	NP_001171650.1:p.Pro199=