Canonical Allele Identifier: CA405661138
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1376763642

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38543364C>T , CM000681.2:g.38543364C>T GRCh38
NC_000019.9:g.39034004C>T , CM000681.1:g.39034004C>T GRCh37
NC_000019.8:g.43725844C>T NCBI36
NG_008866.1:g.114665C>T , LRG_766:g.114665C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.117C>T
ENST00000689936.1:c.99C>T
ENST00000359596.8:c.11707C>T MANE Select ENSP00000352608.2:p.Arg3903Trp
ENST00000355481.8:c.11692C>T ENSP00000347667.3:p.Arg3898Trp
ENST00000359596.7:c.11707C>T ENSP00000352608.2:p.Arg3903Trp
ENST00000360985.7:c.11689C>T ENSP00000354254.4:p.Arg3897Trp
ENST00000593322.1:c.316C>T
ENST00000594335.5:c.5076C>T
NM_000540.2:c.11707C>T , LRG_766t1:c.11707C>T NP_000531.2:p.Arg3903Trp
NM_001042723.1:c.11692C>T NP_001036188.1:p.Arg3898Trp
XM_006723317.1:c.11689C>T XP_006723380.1:p.Arg3897Trp
XM_006723319.1:c.11674C>T XP_006723382.1:p.Arg3892Trp
XM_011527204.1:c.11704C>T XP_011525506.1:p.Arg3902Trp
XM_011527205.1:c.11707C>T XP_011525507.1:p.Arg3903Trp
XM_006723317.2:c.11689C>T XP_006723380.1:p.Arg3897Trp
XM_006723319.2:c.11674C>T XP_006723382.1:p.Arg3892Trp
XM_011527205.2:c.11707C>T XP_011525507.1:p.Arg3903Trp
NM_000540.3:c.11707C>T MANE Select NP_000531.2:p.Arg3903Trp
NM_001042723.2:c.11692C>T NP_001036188.1:p.Arg3898Trp