Canonical Allele Identifier: CA354905361

Gene: GYG1

Linked Data

• dbSNP Id: rs1297560144
• gnomAD v2: 3-148727161-A-G
• gnomAD v3: 3-149009374-A-G
• gnomAD v4: 3-149009374-A-G
• MyVariant Identifiers: chr3:g.148727161A>G (hg19) ; chr3:g.149009374A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009374A>G , CM000665.2:g.149009374A>G	GRCh38
NC_000003.11:g.148727161A>G , CM000665.1:g.148727161A>G	GRCh37
NC_000003.10:g.150209851A>G	NCBI36
NG_027677.1:g.22967A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.580A>G MANE Select	ENSP00000340736.4:p.Ile194Val
ENST00000296048.10:c.580A>G	ENSP00000296048.6:p.Ile194Val
ENST00000345003.8:c.580A>G	ENSP00000340736.4:p.Ile194Val
ENST00000461191.1:c.568A>G	ENSP00000420247.1:p.Ile190Val
ENST00000469873.1:n.494A>G
ENST00000479119.1:n.196A>G
ENST00000483267.5:c.469+12482A>G	ENSP00000419499.1:n.469+12482A>G
ENST00000484197.5:c.580A>G	ENSP00000420683.1:p.Ile194Val
ENST00000497528.5:n.219A>G
ENST00000627418.2:c.469+12482A>G	ENSP00000486061.1:n.469+12482A>G
NM_001184720.1:c.580A>G	NP_001171649.1:p.Ile194Val
NM_001184721.1:c.580A>G	NP_001171650.1:p.Ile194Val
NM_004130.3:c.580A>G	NP_004121.2:p.Ile194Val
XM_017006275.1:c.403A>G	XP_016861764.1:p.Ile135Val
XM_017006276.1:c.118A>G	XP_016861765.1:p.Ile40Val
NM_004130.4:c.580A>G MANE Select	NP_004121.2:p.Ile194Val
NM_001184720.2:c.580A>G	NP_001171649.1:p.Ile194Val
NM_001184721.2:c.580A>G	NP_001171650.1:p.Ile194Val