Canonical Allele Identifier: CA024116
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133060
dbSNP Id: rs193922867

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38577954C>T , CM000681.2:g.38577954C>T GRCh38
NC_000019.9:g.39068594C>T , CM000681.1:g.39068594C>T GRCh37
NC_000019.8:g.43760434C>T NCBI36
NG_008866.1:g.149255C>T , LRG_766:g.149255C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1145C>T
ENST00000688602.1:c.2542C>T
ENST00000689936.1:c.2514C>T
ENST00000359596.8:c.14209C>T MANE Select ENSP00000352608.2:p.Arg4737Trp
ENST00000355481.8:c.14194C>T ENSP00000347667.3:p.Arg4732Trp
ENST00000359596.7:c.14209C>T ENSP00000352608.2:p.Arg4737Trp
ENST00000360985.7:c.14191C>T ENSP00000354254.4:p.Arg4731Trp
NM_000540.2:c.14209C>T , LRG_766t1:c.14209C>T NP_000531.2:p.Arg4737Trp
NM_001042723.1:c.14194C>T NP_001036188.1:p.Arg4732Trp
XM_006723317.1:c.14191C>T XP_006723380.1:p.Arg4731Trp
XM_006723319.1:c.14176C>T XP_006723382.1:p.Arg4726Trp
XM_011527204.1:c.14206C>T XP_011525506.1:p.Arg4736Trp
XM_011527205.1:c.14122C>T XP_011525507.1:p.Arg4708Trp
XM_006723317.2:c.14191C>T XP_006723380.1:p.Arg4731Trp
XM_006723319.2:c.14176C>T XP_006723382.1:p.Arg4726Trp
XM_011527205.2:c.14122C>T XP_011525507.1:p.Arg4708Trp
NM_000540.3:c.14209C>T MANE Select NP_000531.2:p.Arg4737Trp
NM_001042723.2:c.14194C>T NP_001036188.1:p.Arg4732Trp