Canonical Allele Identifier: CA062978

Gene: RYR1

Linked Data

• ClinVar Variation Id: 224370
• ClinVar RCV Id: RCV000209963
• dbSNP Id: rs200698933
• ExAC: 19:38949791 G / A
• gnomAD v2: 19-38949791-G-A
• gnomAD v3: 19-38459151-G-A
• gnomAD v4: 19-38459151-G-A
• COSMIC: COSM3222296
• MyVariant Identifiers: chr19:g.38949791G>A (hg19) ; chr19:g.38459151G>A (hg38)
• PubMed: PMID:24195946

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38459151G>A , CM000681.2:g.38459151G>A	GRCh38
NC_000019.9:g.38949791G>A , CM000681.1:g.38949791G>A	GRCh37
NC_000019.8:g.43641631G>A	NCBI36
NG_008866.1:g.30452G>A , LRG_766:g.30452G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.2173G>A	ENSP00000471601.2:p.Val725Met
ENST00000359596.8:c.2173G>A MANE Select	ENSP00000352608.2:p.Val725Met
ENST00000355481.8:c.2173G>A	ENSP00000347667.3:p.Val725Met
ENST00000359596.7:c.2173G>A	ENSP00000352608.2:p.Val725Met
ENST00000360985.7:c.2173G>A	ENSP00000354254.4:p.Val725Met
NM_000540.2:c.2173G>A , LRG_766t1:c.2173G>A	NP_000531.2:p.Val725Met
NM_001042723.1:c.2173G>A	NP_001036188.1:p.Val725Met
XM_006723317.1:c.2173G>A	XP_006723380.1:p.Val725Met
XM_006723319.1:c.2173G>A	XP_006723382.1:p.Val725Met
XM_011527204.1:c.2170G>A	XP_011525506.1:p.Val724Met
XM_011527205.1:c.2173G>A	XP_011525507.1:p.Val725Met
XM_006723317.2:c.2173G>A	XP_006723380.1:p.Val725Met
XM_006723319.2:c.2173G>A	XP_006723382.1:p.Val725Met
XM_011527205.2:c.2173G>A	XP_011525507.1:p.Val725Met
XR_001753735.1:n.2256G>A
NM_000540.3:c.2173G>A MANE Select	NP_000531.2:p.Val725Met
NM_001042723.2:c.2173G>A	NP_001036188.1:p.Val725Met