Canonical Allele Identifier: CA2658621

Gene: GYG1

Linked Data

• ClinVar Variation Id: 385794
• ClinVar RCV Id: RCV000967717 ; RCV001704276
• dbSNP Id: rs75445811
• ExAC: 3:148741840 G / A
• gnomAD v2: 3-148741840-G-A
• gnomAD v3: 3-149024053-G-A
• gnomAD v4: 3-149024053-G-A
• MyVariant Identifiers: chr3:g.148741840G>A (hg19) ; chr3:g.149024053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149024053G>A , CM000665.2:g.149024053G>A	GRCh38
NC_000003.11:g.148741840G>A , CM000665.1:g.148741840G>A	GRCh37
NC_000003.10:g.150224530G>A	NCBI36
NG_027677.1:g.37646G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.609G>A MANE Select	ENSP00000340736.4:p.Val203=
ENST00000296048.10:c.609G>A	ENSP00000296048.6:p.Val203=
ENST00000345003.8:c.609G>A	ENSP00000340736.4:p.Val203=
ENST00000461191.1:c.597G>A	ENSP00000420247.1:p.Val199=
ENST00000469873.1:n.523G>A
ENST00000479119.1:n.225-2707G>A
ENST00000483267.5:c.470G>A	ENSP00000419499.1:p.Gly157Asp
ENST00000484197.5:c.609-2707G>A	ENSP00000420683.1:n.609-2707G>A
ENST00000627418.2:c.470G>A	ENSP00000486061.1:p.Gly157Asp
NM_001184720.1:c.609G>A	NP_001171649.1:p.Val203=
NM_001184721.1:c.609-2707G>A	NP_001171650.1:n.609-2707G>A
NM_004130.3:c.609G>A	NP_004121.2:p.Val203=
XM_017006275.1:c.432G>A	XP_016861764.1:p.Val144=
XM_017006276.1:c.147G>A	XP_016861765.1:p.Val49=
NM_004130.4:c.609G>A MANE Select	NP_004121.2:p.Val203=
NM_001184720.2:c.609G>A	NP_001171649.1:p.Val203=
NM_001184721.2:c.609-2707G>A	NP_001171650.1:n.609-2707G>A