Canonical Allele Identifier: CA405670957
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565037A>C , CM000681.2:g.38565037A>C GRCh38
NC_000019.9:g.39055677A>C , CM000681.1:g.39055677A>C GRCh37
NC_000019.8:g.43747517A>C NCBI36
NG_008866.1:g.136338A>C , LRG_766:g.136338A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.1113A>C
ENST00000689936.1:c.1095A>C
ENST00000359596.8:c.12703A>C MANE Select ENSP00000352608.2:p.Ser4235Arg
ENST00000355481.8:c.12688A>C ENSP00000347667.3:p.Ser4230Arg
ENST00000359596.7:c.12703A>C ENSP00000352608.2:p.Ser4235Arg
ENST00000360985.7:c.12685A>C ENSP00000354254.4:p.Ser4229Arg
ENST00000594335.5:c.6072A>C
NM_000540.2:c.12703A>C , LRG_766t1:c.12703A>C NP_000531.2:p.Ser4235Arg
NM_001042723.1:c.12688A>C NP_001036188.1:p.Ser4230Arg
XM_006723317.1:c.12685A>C XP_006723380.1:p.Ser4229Arg
XM_006723319.1:c.12670A>C XP_006723382.1:p.Ser4224Arg
XM_011527204.1:c.12700A>C XP_011525506.1:p.Ser4234Arg
XM_011527205.1:c.12703A>C XP_011525507.1:p.Ser4235Arg
XM_006723317.2:c.12685A>C XP_006723380.1:p.Ser4229Arg
XM_006723319.2:c.12670A>C XP_006723382.1:p.Ser4224Arg
XM_011527205.2:c.12703A>C XP_011525507.1:p.Ser4235Arg
NM_000540.3:c.12703A>C MANE Select NP_000531.2:p.Ser4235Arg
NM_001042723.2:c.12688A>C NP_001036188.1:p.Ser4230Arg