Canonical Allele Identifier: CA024141

Gene: RYR1

Linked Data

• ClinVar Variation Id: 65964
• ClinVar RCV Id: RCV000056211 ; RCV000119514
• dbSNP Id: rs118192142
• MyVariant Identifiers: chr19:g.39070697C>T (hg19) ; chr19:g.38580057C>T (hg38)
• PubMed: PMID:14985404 ; PMID:20301565

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38580057C>T , CM000681.2:g.38580057C>T	GRCh38
NC_000019.9:g.39070697C>T , CM000681.1:g.39070697C>T	GRCh37
NC_000019.8:g.43762537C>T	NCBI36
NG_008866.1:g.151358C>T , LRG_766:g.151358C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1376C>T
ENST00000688602.1:c.2773C>T
ENST00000689936.1:c.2745C>T
ENST00000359596.8:c.14440C>T MANE Select	ENSP00000352608.2:p.Leu4814Phe
ENST00000355481.8:c.14425C>T	ENSP00000347667.3:p.Leu4809Phe
ENST00000359596.7:c.14440C>T	ENSP00000352608.2:p.Leu4814Phe
ENST00000360985.7:c.14422C>T	ENSP00000354254.4:p.Leu4808Phe
NM_000540.2:c.14440C>T , LRG_766t1:c.14440C>T	NP_000531.2:p.Leu4814Phe
NM_001042723.1:c.14425C>T	NP_001036188.1:p.Leu4809Phe
XM_006723317.1:c.14422C>T	XP_006723380.1:p.Leu4808Phe
XM_006723319.1:c.14407C>T	XP_006723382.1:p.Leu4803Phe
XM_011527204.1:c.14437C>T	XP_011525506.1:p.Leu4813Phe
XM_011527205.1:c.14353C>T	XP_011525507.1:p.Leu4785Phe
XM_006723317.2:c.14422C>T	XP_006723380.1:p.Leu4808Phe
XM_006723319.2:c.14407C>T	XP_006723382.1:p.Leu4803Phe
XM_011527205.2:c.14353C>T	XP_011525507.1:p.Leu4785Phe
NM_000540.3:c.14440C>T MANE Select	NP_000531.2:p.Leu4814Phe
NM_001042723.2:c.14425C>T	NP_001036188.1:p.Leu4809Phe