Canonical Allele Identifier: CA2658599

Gene: GYG1

Linked Data

• ClinVar Variation Id: 1449684
• ClinVar RCV Id: RCV001989751 ; RCV002563564
• dbSNP Id: rs142318183
• ExAC: 3:148727182 T / G
• gnomAD v2: 3-148727182-T-G
• gnomAD v3: 3-149009395-T-G
• gnomAD v4: 3-149009395-T-G
• MyVariant Identifiers: chr3:g.148727182T>G (hg19) ; chr3:g.149009395T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009395T>G , CM000665.2:g.149009395T>G	GRCh38
NC_000003.11:g.148727182T>G , CM000665.1:g.148727182T>G	GRCh37
NC_000003.10:g.150209872T>G	NCBI36
NG_027677.1:g.22988T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.601T>G MANE Select	ENSP00000340736.4:p.Phe201Val
ENST00000296048.10:c.601T>G	ENSP00000296048.6:p.Phe201Val
ENST00000345003.8:c.601T>G	ENSP00000340736.4:p.Phe201Val
ENST00000461191.1:c.589T>G	ENSP00000420247.1:p.Phe197Val
ENST00000469873.1:n.515T>G
ENST00000479119.1:n.217T>G
ENST00000483267.5:c.469+12503T>G	ENSP00000419499.1:n.469+12503T>G
ENST00000484197.5:c.601T>G	ENSP00000420683.1:p.Phe201Val
ENST00000627418.2:c.469+12503T>G	ENSP00000486061.1:n.469+12503T>G
NM_001184720.1:c.601T>G	NP_001171649.1:p.Phe201Val
NM_001184721.1:c.601T>G	NP_001171650.1:p.Phe201Val
NM_004130.3:c.601T>G	NP_004121.2:p.Phe201Val
XM_017006275.1:c.424T>G	XP_016861764.1:p.Phe142Val
XM_017006276.1:c.139T>G	XP_016861765.1:p.Phe47Val
NM_004130.4:c.601T>G MANE Select	NP_004121.2:p.Phe201Val
NM_001184720.2:c.601T>G	NP_001171649.1:p.Phe201Val
NM_001184721.2:c.601T>G	NP_001171650.1:p.Phe201Val