Canonical Allele Identifier: CA405672226
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565170C>A , CM000681.2:g.38565170C>A GRCh38
NC_000019.9:g.39055810C>A , CM000681.1:g.39055810C>A GRCh37
NC_000019.8:g.43747650C>A NCBI36
NG_008866.1:g.136471C>A , LRG_766:g.136471C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.1246C>A
ENST00000689936.1:c.1228C>A
ENST00000359596.8:c.12836C>A MANE Select ENSP00000352608.2:p.Ala4279Glu
ENST00000355481.8:c.12821C>A ENSP00000347667.3:p.Ala4274Glu
ENST00000359596.7:c.12836C>A ENSP00000352608.2:p.Ala4279Glu
ENST00000360985.7:c.12818C>A ENSP00000354254.4:p.Ala4273Glu
ENST00000594335.5:c.6205C>A
NM_000540.2:c.12836C>A , LRG_766t1:c.12836C>A NP_000531.2:p.Ala4279Glu
NM_001042723.1:c.12821C>A NP_001036188.1:p.Ala4274Glu
XM_006723317.1:c.12818C>A XP_006723380.1:p.Ala4273Glu
XM_006723319.1:c.12803C>A XP_006723382.1:p.Ala4268Glu
XM_011527204.1:c.12833C>A XP_011525506.1:p.Ala4278Glu
XM_011527205.1:c.12836C>A XP_011525507.1:p.Ala4279Glu
XM_006723317.2:c.12818C>A XP_006723380.1:p.Ala4273Glu
XM_006723319.2:c.12803C>A XP_006723382.1:p.Ala4268Glu
XM_011527205.2:c.12836C>A XP_011525507.1:p.Ala4279Glu
NM_000540.3:c.12836C>A MANE Select NP_000531.2:p.Ala4279Glu
NM_001042723.2:c.12821C>A NP_001036188.1:p.Ala4274Glu