Canonical Allele Identifier: CA023914
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133013
ClinVar RCV Id: RCV000119433 RCV000148790 RCV000545953
dbSNP Id: rs140616359
ExAC: 19:39026638 G / A
gnomAD v2: 19-39026638-G-A
gnomAD v3: 19-38535998-G-A
gnomAD v4: 19-38535998-G-A
MyVariant Identifiers: chr19:g.39026638G>A (hg19) chr19:g.38535998G>A (hg38)
PubMed: PMID:16732084 PMID:16917943
ERepo: CA023914/MONDO:0007783/012
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38535998G>A , CM000681.2:g.38535998G>A GRCh38
NC_000019.9:g.39026638G>A , CM000681.1:g.39026638G>A GRCh37
NC_000019.8:g.43718478G>A NCBI36
NG_008866.1:g.107299G>A , LRG_766:g.107299G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000359596.8:c.11518G>A MANE Select ENSP00000352608.2:p.Val3840Ile
ENST00000355481.8:c.11503G>A ENSP00000347667.3:p.Val3835Ile
ENST00000359596.7:c.11518G>A ENSP00000352608.2:p.Val3840Ile
ENST00000360985.7:c.11500G>A ENSP00000354254.4:p.Val3834Ile
ENST00000593322.1:c.217+606G>A
ENST00000594335.5:c.4905G>A
ENST00000596431.5:c.247G>A ENSP00000470848.1:p.Val83Ile
ENST00000601514.5:c.799G>A ENSP00000472497.1:p.Val267Ile
NM_000540.2:c.11518G>A , LRG_766t1:c.11518G>A NP_000531.2:p.Val3840Ile
NM_001042723.1:c.11503G>A NP_001036188.1:p.Val3835Ile
XM_006723317.1:c.11518G>A XP_006723380.1:p.Val3840Ile
XM_006723319.1:c.11503G>A XP_006723382.1:p.Val3835Ile
XM_011527204.1:c.11515G>A XP_011525506.1:p.Val3839Ile
XM_011527205.1:c.11518G>A XP_011525507.1:p.Val3840Ile
XM_006723317.2:c.11518G>A XP_006723380.1:p.Val3840Ile
XM_006723319.2:c.11503G>A XP_006723382.1:p.Val3835Ile
XM_011527205.2:c.11518G>A XP_011525507.1:p.Val3840Ile
NM_000540.3:c.11518G>A MANE Select NP_000531.2:p.Val3840Ile
NM_001042723.2:c.11503G>A NP_001036188.1:p.Val3835Ile
Search 100 bp 5'
Search 100 bp 3'