Canonical Allele Identifier: CA354908495

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149024194G>A , CM000665.2:g.149024194G>A	GRCh38
NC_000003.11:g.148741981G>A , CM000665.1:g.148741981G>A	GRCh37
NC_000003.10:g.150224671G>A	NCBI36
NG_027677.1:g.37787G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004130.4:c.750G>A MANE Select	NP_004121.2:p.Trp250Ter
ENST00000345003.9:c.750G>A MANE Select	ENSP00000340736.4:p.Trp250Ter
NM_001184720.1:c.750G>A	NP_001171649.1:p.Trp250Ter
NM_001184720.2:c.750G>A	NP_001171649.1:p.Trp250Ter
NM_001184721.1:c.609-2566G>A	NP_001171650.1:n.609-2566G>A
NM_001184721.2:c.609-2566G>A	NP_001171650.1:n.609-2566G>A
NM_004130.3:c.750G>A	NP_004121.2:p.Trp250Ter
ENST00000296048.10:c.750G>A	ENSP00000296048.6:p.Trp250Ter
ENST00000345003.8:c.750G>A	ENSP00000340736.4:p.Trp250Ter
ENST00000461191.1:c.738G>A	ENSP00000420247.1:p.Trp246Ter
ENST00000469873.1:n.664G>A
ENST00000479119.1:n.225-2566G>A
ENST00000483267.5:c.*29G>A	ENSP00000419499.1:n.*29G>A
ENST00000484197.5:c.609-2566G>A	ENSP00000420683.1:n.609-2566G>A
ENST00000627418.2:c.*29G>A	ENSP00000486061.1:n.*29G>A
XM_017006275.1:c.573G>A	XP_016861764.1:p.Trp191Ter
XM_017006276.1:c.288G>A	XP_016861765.1:p.Trp96Ter