Canonical Allele Identifier: CA405681387

Gene: RYR1

Linked Data

• COSMIC: COSM3707119
• MyVariant Identifiers: chr19:g.39062872G>A (hg19) ; chr19:g.38572232G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572232G>A , CM000681.2:g.38572232G>A	GRCh38
NC_000019.9:g.39062872G>A , CM000681.1:g.39062872G>A	GRCh37
NC_000019.8:g.43754712G>A	NCBI36
NG_008866.1:g.143533G>A , LRG_766:g.143533G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.896G>A
ENST00000688602.1:c.2293G>A
ENST00000689936.1:c.2265G>A
ENST00000359596.8:c.13960G>A MANE Select	ENSP00000352608.2:p.Val4654Met
ENST00000355481.8:c.13945G>A	ENSP00000347667.3:p.Val4649Met
ENST00000359596.7:c.13960G>A	ENSP00000352608.2:p.Val4654Met
ENST00000360985.7:c.13942G>A	ENSP00000354254.4:p.Val4648Met
ENST00000593677.1:c.420G>A
NM_000540.2:c.13960G>A , LRG_766t1:c.13960G>A	NP_000531.2:p.Val4654Met
NM_001042723.1:c.13945G>A	NP_001036188.1:p.Val4649Met
XM_006723317.1:c.13942G>A	XP_006723380.1:p.Val4648Met
XM_006723319.1:c.13927G>A	XP_006723382.1:p.Val4643Met
XM_011527204.1:c.13957G>A	XP_011525506.1:p.Val4653Met
XM_011527205.1:c.13873G>A	XP_011525507.1:p.Val4625Met
XM_006723317.2:c.13942G>A	XP_006723380.1:p.Val4648Met
XM_006723319.2:c.13927G>A	XP_006723382.1:p.Val4643Met
XM_011527205.2:c.13873G>A	XP_011525507.1:p.Val4625Met
NM_000540.3:c.13960G>A MANE Select	NP_000531.2:p.Val4654Met
NM_001042723.2:c.13945G>A	NP_001036188.1:p.Val4649Met