Canonical Allele Identifier: CA508081622

Gene: GYS1

Linked Data

• ClinVar Variation Id: 1529936
• ClinVar RCV Id: RCV002089462
• dbSNP Id: rs2122477515
• MyVariant Identifiers: chr19:g.49477985C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974728C>T , CM000681.2:g.48974728C>T	GRCh38
NC_000019.9:g.49477985C>T , CM000681.1:g.49477985C>T	GRCh37
NC_000019.8:g.54169797C>T	NCBI36
NG_012923.1:g.23626G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1314G>A MANE Select	ENSP00000317904.3:p.Gln438=
ENST00000263276.6:c.1122G>A	ENSP00000263276.6:p.Gln374=
ENST00000323798.7:c.1314G>A	ENSP00000317904.3:p.Gln438=
ENST00000472004.5:n.69G>A
ENST00000496048.1:n.221G>A
NM_001161587.1:c.1122G>A	NP_001155059.1:p.Gln374=
NM_002103.4:c.1314G>A	NP_002094.2:p.Gln438=
NR_027763.1:n.1373G>A
NM_002103.5:c.1314G>A MANE Select	NP_002094.2:p.Gln438=
NM_001161587.2:c.1122G>A	NP_001155059.1:p.Gln374=
NR_027763.2:n.1329G>A