Canonical Allele Identifier: CA406761784

Gene: GYS1

Linked Data

• COSMIC: COSM4789045
• MyVariant Identifiers: chr19:g.49477989C>A (hg19) ; chr19:g.48974732C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974732C>A , CM000681.2:g.48974732C>A	GRCh38
NC_000019.9:g.49477989C>A , CM000681.1:g.49477989C>A	GRCh37
NC_000019.8:g.54169801C>A	NCBI36
NG_012923.1:g.23622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1310G>T MANE Select	ENSP00000317904.3:p.Arg437Leu
ENST00000263276.6:c.1118G>T	ENSP00000263276.6:p.Arg373Leu
ENST00000323798.7:c.1310G>T	ENSP00000317904.3:p.Arg437Leu
ENST00000472004.5:n.65G>T
ENST00000496048.1:n.217G>T
NM_001161587.1:c.1118G>T	NP_001155059.1:p.Arg373Leu
NM_002103.4:c.1310G>T	NP_002094.2:p.Arg437Leu
NR_027763.1:n.1369G>T
NM_002103.5:c.1310G>T MANE Select	NP_002094.2:p.Arg437Leu
NM_001161587.2:c.1118G>T	NP_001155059.1:p.Arg373Leu
NR_027763.2:n.1325G>T