Canonical Allele Identifier: CA405692715

Gene: RYR1

Linked Data

• COSMIC: COSM5538448
• MyVariant Identifiers: chr19:g.39076750G>A (hg19) ; chr19:g.38586110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38586110G>A , CM000681.2:g.38586110G>A	GRCh38
NC_000019.9:g.39076750G>A , CM000681.1:g.39076750G>A	GRCh37
NC_000019.8:g.43768590G>A	NCBI36
NG_008866.1:g.157411G>A , LRG_766:g.157411G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1824G>A
ENST00000688602.1:c.3221G>A
ENST00000689936.1:c.3193G>A
ENST00000692547.1:n.281G>A
ENST00000359596.8:c.14888G>A MANE Select	ENSP00000352608.2:p.Gly4963Glu
ENST00000355481.8:c.14873G>A	ENSP00000347667.3:p.Gly4958Glu
ENST00000359596.7:c.14888G>A	ENSP00000352608.2:p.Gly4963Glu
ENST00000360985.7:c.14870G>A	ENSP00000354254.4:p.Gly4957Glu
NM_000540.2:c.14888G>A , LRG_766t1:c.14888G>A	NP_000531.2:p.Gly4963Glu
NM_001042723.1:c.14873G>A	NP_001036188.1:p.Gly4958Glu
XM_006723317.1:c.14870G>A	XP_006723380.1:p.Gly4957Glu
XM_006723319.1:c.14855G>A	XP_006723382.1:p.Gly4952Glu
XM_011527204.1:c.14885G>A	XP_011525506.1:p.Gly4962Glu
XM_011527205.1:c.14801G>A	XP_011525507.1:p.Gly4934Glu
XM_006723317.2:c.14870G>A	XP_006723380.1:p.Gly4957Glu
XM_006723319.2:c.14855G>A	XP_006723382.1:p.Gly4952Glu
XM_011527205.2:c.14801G>A	XP_011525507.1:p.Gly4934Glu
NM_000540.3:c.14888G>A MANE Select	NP_000531.2:p.Gly4963Glu
NM_001042723.2:c.14873G>A	NP_001036188.1:p.Gly4958Glu