Canonical Allele Identifier: CA175130

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149024193G>A , CM000665.2:g.149024193G>A	GRCh38
NC_000003.11:g.148741980G>A , CM000665.1:g.148741980G>A	GRCh37
NC_000003.10:g.150224670G>A	NCBI36
NG_027677.1:g.37786G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004130.4:c.749G>A MANE Select	NP_004121.2:p.Trp250Ter
ENST00000345003.9:c.749G>A MANE Select	ENSP00000340736.4:p.Trp250Ter
NM_001184720.1:c.749G>A	NP_001171649.1:p.Trp250Ter
NM_001184720.2:c.749G>A	NP_001171649.1:p.Trp250Ter
NM_001184721.1:c.609-2567G>A	NP_001171650.1:n.609-2567G>A
NM_001184721.2:c.609-2567G>A	NP_001171650.1:n.609-2567G>A
NM_004130.3:c.749G>A	NP_004121.2:p.Trp250Ter
ENST00000296048.10:c.749G>A	ENSP00000296048.6:p.Trp250Ter
ENST00000345003.8:c.749G>A	ENSP00000340736.4:p.Trp250Ter
ENST00000461191.1:c.737G>A	ENSP00000420247.1:p.Trp246Ter
ENST00000469873.1:n.663G>A
ENST00000479119.1:n.225-2567G>A
ENST00000483267.5:c.*28G>A	ENSP00000419499.1:n.*28G>A
ENST00000484197.5:c.609-2567G>A	ENSP00000420683.1:n.609-2567G>A
ENST00000627418.2:c.*28G>A	ENSP00000486061.1:n.*28G>A
XM_017006275.1:c.572G>A	XP_016861764.1:p.Trp191Ter
XM_017006276.1:c.287G>A	XP_016861765.1:p.Trp96Ter