Canonical Allele Identifier: CA2658597

Gene: GYG1

Linked Data

• ClinVar Variation Id: 2163192
• ClinVar RCV Id: RCV003091661
• dbSNP Id: rs759325295
• ExAC: 3:148727178 G / A
• gnomAD v2: 3-148727178-G-A
• gnomAD v3: 3-149009391-G-A
• gnomAD v4: 3-149009391-G-A
• MyVariant Identifiers: chr3:g.148727178G>A (hg19) ; chr3:g.149009391G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009391G>A , CM000665.2:g.149009391G>A	GRCh38
NC_000003.11:g.148727178G>A , CM000665.1:g.148727178G>A	GRCh37
NC_000003.10:g.150209868G>A	NCBI36
NG_027677.1:g.22984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.597G>A MANE Select	ENSP00000340736.4:p.Pro199=
ENST00000296048.10:c.597G>A	ENSP00000296048.6:p.Pro199=
ENST00000345003.8:c.597G>A	ENSP00000340736.4:p.Pro199=
ENST00000461191.1:c.585G>A	ENSP00000420247.1:p.Pro195=
ENST00000469873.1:n.511G>A
ENST00000479119.1:n.213G>A
ENST00000483267.5:c.469+12499G>A	ENSP00000419499.1:n.469+12499G>A
ENST00000484197.5:c.597G>A	ENSP00000420683.1:p.Pro199=
ENST00000627418.2:c.469+12499G>A	ENSP00000486061.1:n.469+12499G>A
NM_001184720.1:c.597G>A	NP_001171649.1:p.Pro199=
NM_001184721.1:c.597G>A	NP_001171650.1:p.Pro199=
NM_004130.3:c.597G>A	NP_004121.2:p.Pro199=
XM_017006275.1:c.420G>A	XP_016861764.1:p.Pro140=
XM_017006276.1:c.135G>A	XP_016861765.1:p.Pro45=
NM_004130.4:c.597G>A MANE Select	NP_004121.2:p.Pro199=
NM_001184720.2:c.597G>A	NP_001171649.1:p.Pro199=
NM_001184721.2:c.597G>A	NP_001171650.1:p.Pro199=