Canonical Allele Identifier: CA406761612

Gene: GYS1

Linked Data

• MyVariant Identifiers: chr19:g.49477905A>G (hg19) ; chr19:g.48974648A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974648A>G , CM000681.2:g.48974648A>G	GRCh38
NC_000019.9:g.49477905A>G , CM000681.1:g.49477905A>G	GRCh37
NC_000019.8:g.54169717A>G	NCBI36
NG_012923.1:g.23706T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1394T>C MANE Select	ENSP00000317904.3:p.Leu465Pro
ENST00000263276.6:c.1202T>C	ENSP00000263276.6:p.Leu401Pro
ENST00000323798.7:c.1394T>C	ENSP00000317904.3:p.Leu465Pro
ENST00000472004.5:n.149T>C
ENST00000496048.1:n.301T>C
NM_001161587.1:c.1202T>C	NP_001155059.1:p.Leu401Pro
NM_002103.4:c.1394T>C	NP_002094.2:p.Leu465Pro
NR_027763.1:n.1453T>C
NM_002103.5:c.1394T>C MANE Select	NP_002094.2:p.Leu465Pro
NM_001161587.2:c.1202T>C	NP_001155059.1:p.Leu401Pro
NR_027763.2:n.1409T>C