Canonical Allele Identifier: CA024753
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133196
ClinVar RCV Id: RCV000119700
dbSNP Id: rs28933396

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499997G>T , CM000681.2:g.38499997G>T GRCh38
NC_000019.9:g.38990637G>T , CM000681.1:g.38990637G>T GRCh37
NC_000019.8:g.43682477G>T NCBI36
NG_008866.1:g.71298G>T , LRG_766:g.71298G>T

Transcript Alleles

HGVS Amino-acid change
NM_000540.2:c.7304G>T , LRG_766t1:c.7304G>T NP_000531.2:p.Arg2435Leu
NM_001042723.1:c.7304G>T NP_001036188.1:p.Arg2435Leu
XM_006723317.1:c.7304G>T XP_006723380.1:p.Arg2435Leu
XM_006723319.1:c.7304G>T XP_006723382.1:p.Arg2435Leu
XM_011527204.1:c.7301G>T XP_011525506.1:p.Arg2434Leu
XM_011527205.1:c.7304G>T XP_011525507.1:p.Arg2435Leu
XM_006723317.2:c.7304G>T XP_006723380.1:p.Arg2435Leu
XM_006723319.2:c.7304G>T XP_006723382.1:p.Arg2435Leu
XM_011527205.2:c.7304G>T XP_011525507.1:p.Arg2435Leu
XR_001753735.1:n.7387G>T
NM_000540.3:c.7304G>T MANE Select NP_000531.2:p.Arg2435Leu
NM_001042723.2:c.7304G>T NP_001036188.1:p.Arg2435Leu
ENST00000355481.8:c.7304G>T ENSP00000347667.3:p.Arg2435Leu
ENST00000359596.7:n.7304G>T ENSP00000352608.2:p.Arg2435Leu
ENST00000360985.7:c.7301G>T ENSP00000354254.4:p.Arg2434Leu
ENST00000594335.5:n.756G>T