Canonical Allele Identifier: CA2335062001
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38517386A= , CM000681.2:g.38517386A= GRCh38
NC_000019.9:g.39008026A= , CM000681.1:g.39008026A= GRCh37
NC_000019.8:g.43699866A= NCBI36
NG_008866.1:g.88687A= , LRG_766:g.88687A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.9652A= ENSP00000471601.2:n.9652A=
ENST00000359596.8:c.9713A= MANE Select ENSP00000352608.2:p.Glu3238=
ENST00000355481.8:c.9713A= ENSP00000347667.3:p.Glu3238=
ENST00000359596.7:c.9713A= ENSP00000352608.2:p.Glu3238=
ENST00000360985.7:c.9710A= ENSP00000354254.4:p.Glu3237=
ENST00000594335.5:c.3115A=
ENST00000599547.5:c.520A=
NM_000540.2:c.9713A= , LRG_766t1:c.9713A= NP_000531.2:p.Glu3238=
NM_001042723.1:c.9713A= NP_001036188.1:p.Glu3238=
XM_006723317.1:c.9713A= XP_006723380.1:p.Glu3238=
XM_006723319.1:c.9713A= XP_006723382.1:p.Glu3238=
XM_011527204.1:c.9710A= XP_011525506.1:p.Glu3237=
XM_011527205.1:c.9713A= XP_011525507.1:p.Glu3238=
XM_006723317.2:c.9713A= XP_006723380.1:p.Glu3238=
XM_006723319.2:c.9713A= XP_006723382.1:p.Glu3238=
XM_011527205.2:c.9713A= XP_011525507.1:p.Glu3238=
XR_001753735.1:n.9746A=
NM_000540.3:c.9713A= MANE Select NP_000531.2:p.Glu3238=
NM_001042723.2:c.9713A= NP_001036188.1:p.Glu3238=