Canonical Allele Identifier: CA405682082
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3071192
ClinVar RCV Id: RCV004014694
dbSNP Id: rs1345326691

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38573216C>T , CM000681.2:g.38573216C>T GRCh38
NC_000019.9:g.39063856C>T , CM000681.1:g.39063856C>T GRCh37
NC_000019.8:g.43755696C>T NCBI36
NG_008866.1:g.144517C>T , LRG_766:g.144517C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.974C>T
ENST00000688602.1:c.2371C>T
ENST00000689936.1:c.2343C>T
ENST00000359596.8:c.14038C>T MANE Select ENSP00000352608.2:p.Arg4680Trp
ENST00000355481.8:c.14023C>T ENSP00000347667.3:p.Arg4675Trp
ENST00000359596.7:c.14038C>T ENSP00000352608.2:p.Arg4680Trp
ENST00000360985.7:c.14020C>T ENSP00000354254.4:p.Arg4674Trp
NM_000540.2:c.14038C>T , LRG_766t1:c.14038C>T NP_000531.2:p.Arg4680Trp
NM_001042723.1:c.14023C>T NP_001036188.1:p.Arg4675Trp
XM_006723317.1:c.14020C>T XP_006723380.1:p.Arg4674Trp
XM_006723319.1:c.14005C>T XP_006723382.1:p.Arg4669Trp
XM_011527204.1:c.14035C>T XP_011525506.1:p.Arg4679Trp
XM_011527205.1:c.13951C>T XP_011525507.1:p.Arg4651Trp
XM_006723317.2:c.14020C>T XP_006723380.1:p.Arg4674Trp
XM_006723319.2:c.14005C>T XP_006723382.1:p.Arg4669Trp
XM_011527205.2:c.13951C>T XP_011525507.1:p.Arg4651Trp
NM_000540.3:c.14038C>T MANE Select NP_000531.2:p.Arg4680Trp
NM_001042723.2:c.14023C>T NP_001036188.1:p.Arg4675Trp