Canonical Allele Identifier: CA024025

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65924
• ClinVar RCV Id: RCV000056171 ; RCV000119471
• dbSNP Id: rs118192129
• gnomAD v4: 19-38565320-C-A
• MyVariant Identifiers: chr19:g.39055960C>A (hg19) ; chr19:g.38565320C>A (hg38)
• PubMed: PMID:17033962 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38565320C>A , CM000681.2:g.38565320C>A	GRCh38
NC_000019.9:g.39055960C>A , CM000681.1:g.39055960C>A	GRCh37
NC_000019.8:g.43747800C>A	NCBI36
NG_008866.1:g.136621C>A , LRG_766:g.136621C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688602.1:c.1396C>A
ENST00000689936.1:c.1378C>A
ENST00000359596.8:c.12986C>A MANE Select	ENSP00000352608.2:p.Ala4329Asp
ENST00000355481.8:c.12971C>A	ENSP00000347667.3:p.Ala4324Asp
ENST00000359596.7:c.12986C>A	ENSP00000352608.2:p.Ala4329Asp
ENST00000360985.7:c.12968C>A	ENSP00000354254.4:p.Ala4323Asp
NM_000540.2:c.12986C>A , LRG_766t1:c.12986C>A	NP_000531.2:p.Ala4329Asp
NM_001042723.1:c.12971C>A	NP_001036188.1:p.Ala4324Asp
XM_006723317.1:c.12968C>A	XP_006723380.1:p.Ala4323Asp
XM_006723319.1:c.12953C>A	XP_006723382.1:p.Ala4318Asp
XM_011527204.1:c.12983C>A	XP_011525506.1:p.Ala4328Asp
XM_011527205.1:c.12986C>A	XP_011525507.1:p.Ala4329Asp
XM_006723317.2:c.12968C>A	XP_006723380.1:p.Ala4323Asp
XM_006723319.2:c.12953C>A	XP_006723382.1:p.Ala4318Asp
XM_011527205.2:c.12986C>A	XP_011525507.1:p.Ala4329Asp
NM_000540.3:c.12986C>A MANE Select	NP_000531.2:p.Ala4329Asp
NM_001042723.2:c.12971C>A	NP_001036188.1:p.Ala4324Asp