Canonical Allele Identifier: CA354904982

Gene: GYG1

Linked Data

• MyVariant Identifiers: chr3:g.148727080C>A (hg19) ; chr3:g.149009293C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009293C>A , CM000665.2:g.149009293C>A	GRCh38
NC_000003.11:g.148727080C>A , CM000665.1:g.148727080C>A	GRCh37
NC_000003.10:g.150209770C>A	NCBI36
NG_027677.1:g.22886C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.499C>A MANE Select	ENSP00000340736.4:p.Leu167Met
ENST00000296048.10:c.499C>A	ENSP00000296048.6:p.Leu167Met
ENST00000345003.8:c.499C>A	ENSP00000340736.4:p.Leu167Met
ENST00000461191.1:c.487C>A	ENSP00000420247.1:p.Leu163Met
ENST00000469873.1:n.413C>A
ENST00000479119.1:n.115C>A
ENST00000483267.5:c.469+12401C>A	ENSP00000419499.1:n.469+12401C>A
ENST00000484197.5:c.499C>A	ENSP00000420683.1:p.Leu167Met
ENST00000497528.5:n.138C>A
ENST00000627418.2:c.469+12401C>A	ENSP00000486061.1:n.469+12401C>A
NM_001184720.1:c.499C>A	NP_001171649.1:p.Leu167Met
NM_001184721.1:c.499C>A	NP_001171650.1:p.Leu167Met
NM_004130.3:c.499C>A	NP_004121.2:p.Leu167Met
XM_017006275.1:c.322C>A	XP_016861764.1:p.Leu108Met
XM_017006276.1:c.37C>A	XP_016861765.1:p.Leu13Met
NM_004130.4:c.499C>A MANE Select	NP_004121.2:p.Leu167Met
NM_001184720.2:c.499C>A	NP_001171649.1:p.Leu167Met
NM_001184721.2:c.499C>A	NP_001171650.1:p.Leu167Met