Canonical Allele Identifier: CA9562976

Gene: GYS1

Linked Data

• dbSNP Id: rs1491275132
• ExAC: 19:49477972 CAG / C
• gnomAD v2: 19-49477972-CAG-C
• gnomAD v3: 19-48974715-CAG-C
• gnomAD v4: 19-48974715-CAG-C
• MyVariant Identifiers: chr19:g.49477973_49477974del (hg19) ; chr19:g.48974716_48974717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974716_48974717del , CM000681.2:g.48974716_48974717del	GRCh38
NC_000019.9:g.49477973_49477974del , CM000681.1:g.49477973_49477974del	GRCh37
NC_000019.8:g.54169785_54169786del	NCBI36
NG_012923.1:g.23637_23638del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1325_1326del MANE Select	ENSP00000317904.3:p.Pro442ArgfsTer9
ENST00000263276.6:c.1133_1134del	ENSP00000263276.6:p.Pro378ArgfsTer9
ENST00000323798.7:c.1325_1326del	ENSP00000317904.3:p.Pro442ArgfsTer9
ENST00000472004.5:n.80_81del
ENST00000496048.1:n.232_233del
NM_001161587.1:c.1133_1134del	NP_001155059.1:p.Pro378ArgfsTer9
NM_002103.4:c.1325_1326del	NP_002094.2:p.Pro442ArgfsTer9
NR_027763.1:n.1384_1385del
NM_002103.5:c.1325_1326del MANE Select	NP_002094.2:p.Pro442ArgfsTer9
NM_001161587.2:c.1133_1134del	NP_001155059.1:p.Pro378ArgfsTer9
NR_027763.2:n.1340_1341del