Canonical Allele Identifier: CA2335091397
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578156C= , CM000681.2:g.38578156C= GRCh38
NC_000019.9:g.39068796C= , CM000681.1:g.39068796C= GRCh37
NC_000019.8:g.43760636C= NCBI36
NG_008866.1:g.149457C= , LRG_766:g.149457C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1252C=
ENST00000688602.1:c.2649C=
ENST00000689936.1:c.2621C=
ENST00000359596.8:c.14316C= MANE Select ENSP00000352608.2:p.Ile4772=
ENST00000355481.8:c.14301C= ENSP00000347667.3:p.Ile4767=
ENST00000359596.7:c.14316C= ENSP00000352608.2:p.Ile4772=
ENST00000360985.7:c.14298C= ENSP00000354254.4:p.Ile4766=
NM_000540.2:c.14316C= , LRG_766t1:c.14316C= NP_000531.2:p.Ile4772=
NM_001042723.1:c.14301C= NP_001036188.1:p.Ile4767=
XM_006723317.1:c.14298C= XP_006723380.1:p.Ile4766=
XM_006723319.1:c.14283C= XP_006723382.1:p.Ile4761=
XM_011527204.1:c.14313C= XP_011525506.1:p.Ile4771=
XM_011527205.1:c.14229C= XP_011525507.1:p.Ile4743=
XM_006723317.2:c.14298C= XP_006723380.1:p.Ile4766=
XM_006723319.2:c.14283C= XP_006723382.1:p.Ile4761=
XM_011527205.2:c.14229C= XP_011525507.1:p.Ile4743=
NM_000540.3:c.14316C= MANE Select NP_000531.2:p.Ile4772=
NM_001042723.2:c.14301C= NP_001036188.1:p.Ile4767=