Canonical Allele Identifier: CA436196912

Gene: GYG1

Linked Data

• ClinVar Variation Id: 2125246
• ClinVar RCV Id: RCV003040017
• MyVariant Identifiers: chr3:g.148727082G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009295G>A , CM000665.2:g.149009295G>A	GRCh38
NC_000003.11:g.148727082G>A , CM000665.1:g.148727082G>A	GRCh37
NC_000003.10:g.150209772G>A	NCBI36
NG_027677.1:g.22888G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.501G>A MANE Select	ENSP00000340736.4:p.Leu167=
ENST00000296048.10:c.501G>A	ENSP00000296048.6:p.Leu167=
ENST00000345003.8:c.501G>A	ENSP00000340736.4:p.Leu167=
ENST00000461191.1:c.489G>A	ENSP00000420247.1:p.Leu163=
ENST00000469873.1:n.415G>A
ENST00000479119.1:n.117G>A
ENST00000483267.5:c.469+12403G>A	ENSP00000419499.1:n.469+12403G>A
ENST00000484197.5:c.501G>A	ENSP00000420683.1:p.Leu167=
ENST00000497528.5:n.140G>A
ENST00000627418.2:c.469+12403G>A	ENSP00000486061.1:n.469+12403G>A
NM_001184720.1:c.501G>A	NP_001171649.1:p.Leu167=
NM_001184721.1:c.501G>A	NP_001171650.1:p.Leu167=
NM_004130.3:c.501G>A	NP_004121.2:p.Leu167=
XM_017006275.1:c.324G>A	XP_016861764.1:p.Leu108=
XM_017006276.1:c.39G>A	XP_016861765.1:p.Leu13=
NM_004130.4:c.501G>A MANE Select	NP_004121.2:p.Leu167=
NM_001184720.2:c.501G>A	NP_001171649.1:p.Leu167=
NM_001184721.2:c.501G>A	NP_001171650.1:p.Leu167=