Canonical Allele Identifier: CA2658500

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148996410G>A , CM000665.2:g.148996410G>A	GRCh38
NC_000003.11:g.148714197G>A , CM000665.1:g.148714197G>A	GRCh37
NC_000003.10:g.150196887G>A	NCBI36
NG_027677.1:g.10003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.252G>A MANE Select	ENSP00000340736.4:p.Leu84=
ENST00000296048.10:c.252G>A	ENSP00000296048.6:p.Leu84=
ENST00000345003.8:c.252G>A	ENSP00000340736.4:p.Leu84=
ENST00000461191.1:c.252G>A	ENSP00000420247.1:p.Leu84=
ENST00000465547.1:n.145G>A
ENST00000473005.1:c.114G>A	ENSP00000417671.1:p.Leu38=
ENST00000478067.1:n.353G>A
ENST00000483267.5:c.252G>A	ENSP00000419499.1:p.Leu84=
ENST00000484197.5:c.252G>A	ENSP00000420683.1:p.Leu84=
ENST00000492285.6:c.114G>A	ENSP00000418297.2:p.Leu38=
ENST00000627418.2:c.252G>A	ENSP00000486061.1:p.Leu84=
NM_001184720.1:c.252G>A	NP_001171649.1:p.Leu84=
NM_001184721.1:c.252G>A	NP_001171650.1:p.Leu84=
NM_004130.3:c.252G>A	NP_004121.2:p.Leu84=
XM_017006275.1:c.75G>A	XP_016861764.1:p.Leu25=
NM_004130.4:c.252G>A MANE Select	NP_004121.2:p.Leu84=
NM_001184720.2:c.252G>A	NP_001171649.1:p.Leu84=
NM_001184721.2:c.252G>A	NP_001171650.1:p.Leu84=