Canonical Allele Identifier: CA024143
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133068
dbSNP Id: rs143988412

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580066A>T , CM000681.2:g.38580066A>T GRCh38
NC_000019.9:g.39070706A>T , CM000681.1:g.39070706A>T GRCh37
NC_000019.8:g.43762546A>T NCBI36
NG_008866.1:g.151367A>T , LRG_766:g.151367A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1385A>T
ENST00000688602.1:c.2782A>T
ENST00000689936.1:c.2754A>T
ENST00000359596.8:c.14449A>T MANE Select ENSP00000352608.2:p.Ile4817Phe
ENST00000355481.8:c.14434A>T ENSP00000347667.3:p.Ile4812Phe
ENST00000359596.7:c.14449A>T ENSP00000352608.2:p.Ile4817Phe
ENST00000360985.7:c.14431A>T ENSP00000354254.4:p.Ile4811Phe
NM_000540.2:c.14449A>T , LRG_766t1:c.14449A>T NP_000531.2:p.Ile4817Phe
NM_001042723.1:c.14434A>T NP_001036188.1:p.Ile4812Phe
XM_006723317.1:c.14431A>T XP_006723380.1:p.Ile4811Phe
XM_006723319.1:c.14416A>T XP_006723382.1:p.Ile4806Phe
XM_011527204.1:c.14446A>T XP_011525506.1:p.Ile4816Phe
XM_011527205.1:c.14362A>T XP_011525507.1:p.Ile4788Phe
XM_006723317.2:c.14431A>T XP_006723380.1:p.Ile4811Phe
XM_006723319.2:c.14416A>T XP_006723382.1:p.Ile4806Phe
XM_011527205.2:c.14362A>T XP_011525507.1:p.Ile4788Phe
NM_000540.3:c.14449A>T MANE Select NP_000531.2:p.Ile4817Phe
NM_001042723.2:c.14434A>T NP_001036188.1:p.Ile4812Phe