Canonical Allele Identifier: CA024057

Gene: RYR1

Linked Data

• ClinVar Variation Id: 93252
• ClinVar RCV Id: RCV000180740 ; RCV000148789 ; RCV000415198 ; RCV000287126 ; RCV000584956 ; RCV001080400 ; RCV001796962 ; RCV002477227
• dbSNP Id: rs150396398
• ExAC: 19:39057626 G / C
• gnomAD v2: 19-39057626-G-C
• gnomAD v3: 19-38566986-G-C
• gnomAD v4: 19-38566986-G-C
• MyVariant Identifiers: chr19:g.39057626G>C (hg19) ; chr19:g.38566986G>C (hg38)
• ERepo: CA024057/MONDO:0007783/012
• PubMed: PMID:18813041 ; PMID:20301325 ; PMID:21878807 ; PMID:21918424 ; PMID:22473935 ; PMID:23329375 ; PMID:23394784 ; PMID:23891399 ; PMID:24055113 ; PMID:24195946 ; PMID:24433488 ; PMID:25637381 ; PMID:25735680 ; PMID:26332594 ; PMID:27058611 ; PMID:27147545

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38566986G>C , CM000681.2:g.38566986G>C	GRCh38
NC_000019.9:g.39057626G>C , CM000681.1:g.39057626G>C	GRCh37
NC_000019.8:g.43749466G>C	NCBI36
NG_008866.1:g.138287G>C , LRG_766:g.138287G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.449G>C
ENST00000688602.1:c.1848-787G>C
ENST00000689936.1:c.1905G>C
ENST00000359596.8:c.13513G>C MANE Select	ENSP00000352608.2:p.Asp4505His
ENST00000355481.8:c.13498G>C	ENSP00000347667.3:p.Asp4500His
ENST00000359596.7:c.13513G>C	ENSP00000352608.2:p.Asp4505His
ENST00000360985.7:c.13495G>C	ENSP00000354254.4:p.Asp4499His
ENST00000593677.1:c.60G>C
NM_000540.2:c.13513G>C , LRG_766t1:c.13513G>C	NP_000531.2:p.Asp4505His
NM_001042723.1:c.13498G>C	NP_001036188.1:p.Asp4500His
XM_006723317.1:c.13495G>C	XP_006723380.1:p.Asp4499His
XM_006723319.1:c.13480G>C	XP_006723382.1:p.Asp4494His
XM_011527204.1:c.13510G>C	XP_011525506.1:p.Asp4504His
XM_011527205.1:c.13513G>C	XP_011525507.1:p.Asp4505His
XM_006723317.2:c.13495G>C	XP_006723380.1:p.Asp4499His
XM_006723319.2:c.13480G>C	XP_006723382.1:p.Asp4494His
XM_011527205.2:c.13513G>C	XP_011525507.1:p.Asp4505His
NM_000540.3:c.13513G>C MANE Select	NP_000531.2:p.Asp4505His
NM_001042723.2:c.13498G>C	NP_001036188.1:p.Asp4500His