Canonical Allele Identifier: CA2335091392
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38578147C= , CM000681.2:g.38578147C= GRCh38
NC_000019.9:g.39068787C= , CM000681.1:g.39068787C= GRCh37
NC_000019.8:g.43760627C= NCBI36
NG_008866.1:g.149448C= , LRG_766:g.149448C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1243C=
ENST00000688602.1:c.2640C=
ENST00000689936.1:c.2612C=
ENST00000359596.8:c.14307C= MANE Select ENSP00000352608.2:p.Leu4769=
ENST00000355481.8:c.14292C= ENSP00000347667.3:p.Leu4764=
ENST00000359596.7:c.14307C= ENSP00000352608.2:p.Leu4769=
ENST00000360985.7:c.14289C= ENSP00000354254.4:p.Leu4763=
NM_000540.2:c.14307C= , LRG_766t1:c.14307C= NP_000531.2:p.Leu4769=
NM_001042723.1:c.14292C= NP_001036188.1:p.Leu4764=
XM_006723317.1:c.14289C= XP_006723380.1:p.Leu4763=
XM_006723319.1:c.14274C= XP_006723382.1:p.Leu4758=
XM_011527204.1:c.14304C= XP_011525506.1:p.Leu4768=
XM_011527205.1:c.14220C= XP_011525507.1:p.Leu4740=
XM_006723317.2:c.14289C= XP_006723380.1:p.Leu4763=
XM_006723319.2:c.14274C= XP_006723382.1:p.Leu4758=
XM_011527205.2:c.14220C= XP_011525507.1:p.Leu4740=
NM_000540.3:c.14307C= MANE Select NP_000531.2:p.Leu4769=
NM_001042723.2:c.14292C= NP_001036188.1:p.Leu4764=