Canonical Allele Identifier: CA024167

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65925
• ClinVar RCV Id: RCV000056172 ; RCV000119525 ; RCV001390401 ; RCV003996484
• dbSNP Id: rs118192143
• gnomAD v4: 19-38580395-C-T
• MyVariant Identifiers: chr19:g.39071035C>T (hg19) ; chr19:g.38580395C>T (hg38)
• PubMed: PMID:17204054 ; PMID:17226826 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580395C>T , CM000681.2:g.38580395C>T	GRCh38
NC_000019.9:g.39071035C>T , CM000681.1:g.39071035C>T	GRCh37
NC_000019.8:g.43762875C>T	NCBI36
NG_008866.1:g.151696C>T , LRG_766:g.151696C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1473C>T
ENST00000688602.1:c.2870C>T
ENST00000689936.1:c.2842C>T
ENST00000359596.8:c.14537C>T MANE Select	ENSP00000352608.2:p.Ala4846Val
ENST00000355481.8:c.14522C>T	ENSP00000347667.3:p.Ala4841Val
ENST00000359596.7:c.14537C>T	ENSP00000352608.2:p.Ala4846Val
ENST00000360985.7:c.14519C>T	ENSP00000354254.4:p.Ala4840Val
NM_000540.2:c.14537C>T , LRG_766t1:c.14537C>T	NP_000531.2:p.Ala4846Val
NM_001042723.1:c.14522C>T	NP_001036188.1:p.Ala4841Val
XM_006723317.1:c.14519C>T	XP_006723380.1:p.Ala4840Val
XM_006723319.1:c.14504C>T	XP_006723382.1:p.Ala4835Val
XM_011527204.1:c.14534C>T	XP_011525506.1:p.Ala4845Val
XM_011527205.1:c.14450C>T	XP_011525507.1:p.Ala4817Val
XM_006723317.2:c.14519C>T	XP_006723380.1:p.Ala4840Val
XM_006723319.2:c.14504C>T	XP_006723382.1:p.Ala4835Val
XM_011527205.2:c.14450C>T	XP_011525507.1:p.Ala4817Val
NM_000540.3:c.14537C>T MANE Select	NP_000531.2:p.Ala4846Val
NM_001042723.2:c.14522C>T	NP_001036188.1:p.Ala4841Val