Canonical Allele Identifier: CA406761656

Gene: GYS1

Linked Data

• MyVariant Identifiers: chr19:g.49477929A>G (hg19) ; chr19:g.48974672A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974672A>G , CM000681.2:g.48974672A>G	GRCh38
NC_000019.9:g.49477929A>G , CM000681.1:g.49477929A>G	GRCh37
NC_000019.8:g.54169741A>G	NCBI36
NG_012923.1:g.23682T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1370T>C MANE Select	ENSP00000317904.3:p.Leu457Pro
ENST00000263276.6:c.1178T>C	ENSP00000263276.6:p.Leu393Pro
ENST00000323798.7:c.1370T>C	ENSP00000317904.3:p.Leu457Pro
ENST00000472004.5:n.125T>C
ENST00000496048.1:n.277T>C
NM_001161587.1:c.1178T>C	NP_001155059.1:p.Leu393Pro
NM_002103.4:c.1370T>C	NP_002094.2:p.Leu457Pro
NR_027763.1:n.1429T>C
NM_002103.5:c.1370T>C MANE Select	NP_002094.2:p.Leu457Pro
NM_001161587.2:c.1178T>C	NP_001155059.1:p.Leu393Pro
NR_027763.2:n.1385T>C