Canonical Allele Identifier: CA436202221

Gene: GYG1

Linked Data

• ClinVar Variation Id: 935412
• ClinVar RCV Id: RCV001204000
• dbSNP Id: rs1234846583
• gnomAD v2: 3-148711987-G-A
• gnomAD v3: 3-148994200-G-A
• gnomAD v4: 3-148994200-G-A
• MyVariant Identifiers: chr3:g.148711987G>A (hg19) ; chr3:g.148994200G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148994200G>A , CM000665.2:g.148994200G>A	GRCh38
NC_000003.11:g.148711987G>A , CM000665.1:g.148711987G>A	GRCh37
NC_000003.10:g.150194677G>A	NCBI36
NG_027677.1:g.7793G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.66G>A MANE Select	ENSP00000340736.4:p.Leu22=
ENST00000296048.10:c.66G>A	ENSP00000296048.6:p.Leu22=
ENST00000345003.8:c.66G>A	ENSP00000340736.4:p.Leu22=
ENST00000461191.1:c.66G>A	ENSP00000420247.1:p.Leu22=
ENST00000473005.1:c.-73G>A	ENSP00000417671.1:n.-73G>A
ENST00000478067.1:n.167G>A
ENST00000483267.5:c.66G>A	ENSP00000419499.1:p.Leu22=
ENST00000484197.5:c.66G>A	ENSP00000420683.1:p.Leu22=
ENST00000492285.6:c.-73G>A	ENSP00000418297.2:n.-73G>A
ENST00000627418.2:c.66G>A	ENSP00000486061.1:p.Leu22=
NM_001184720.1:c.66G>A	NP_001171649.1:p.Leu22=
NM_001184721.1:c.66G>A	NP_001171650.1:p.Leu22=
NM_004130.3:c.66G>A	NP_004121.2:p.Leu22=
XM_017006275.1:c.-34-2102G>A	XP_016861764.1:n.-34-2102G>A
NM_004130.4:c.66G>A MANE Select	NP_004121.2:p.Leu22=
NM_001184720.2:c.66G>A	NP_001171649.1:p.Leu22=
NM_001184721.2:c.66G>A	NP_001171650.1:p.Leu22=