Canonical Allele Identifier: CA436197814

Gene: GYG1

Linked Data

• MyVariant Identifiers: chr3:g.148727175C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009388C>A , CM000665.2:g.149009388C>A	GRCh38
NC_000003.11:g.148727175C>A , CM000665.1:g.148727175C>A	GRCh37
NC_000003.10:g.150209865C>A	NCBI36
NG_027677.1:g.22981C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.594C>A MANE Select	ENSP00000340736.4:p.Leu198=
ENST00000296048.10:c.594C>A	ENSP00000296048.6:p.Leu198=
ENST00000345003.8:c.594C>A	ENSP00000340736.4:p.Leu198=
ENST00000461191.1:c.582C>A	ENSP00000420247.1:p.Leu194=
ENST00000469873.1:n.508C>A
ENST00000479119.1:n.210C>A
ENST00000483267.5:c.469+12496C>A	ENSP00000419499.1:n.469+12496C>A
ENST00000484197.5:c.594C>A	ENSP00000420683.1:p.Leu198=
ENST00000497528.5:n.233C>A
ENST00000627418.2:c.469+12496C>A	ENSP00000486061.1:n.469+12496C>A
NM_001184720.1:c.594C>A	NP_001171649.1:p.Leu198=
NM_001184721.1:c.594C>A	NP_001171650.1:p.Leu198=
NM_004130.3:c.594C>A	NP_004121.2:p.Leu198=
XM_017006275.1:c.417C>A	XP_016861764.1:p.Leu139=
XM_017006276.1:c.132C>A	XP_016861765.1:p.Leu44=
NM_004130.4:c.594C>A MANE Select	NP_004121.2:p.Leu198=
NM_001184720.2:c.594C>A	NP_001171649.1:p.Leu198=
NM_001184721.2:c.594C>A	NP_001171650.1:p.Leu198=