Canonical Allele Identifier: CA995718179
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1491128509

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502803_38502804insGAGGGGGAGGGGGAGGGGGAGGGG , CM000681.2:g.38502803_38502804insGAGGGGGAGGGGGAGGGGGAGGGG GRCh38
NC_000019.9:g.38993443_38993444insGAGGGGGAGGGGGAGGGGGAGGGG , CM000681.1:g.38993443_38993444insGAGGGGGAGGGGGAGGGGGAGGGG GRCh37
NC_000019.8:g.43685283_43685284insGAGGGGGAGGGGGAGGGGGAGGGG NCBI36
NG_008866.1:g.74104_74105insGAGGGGGAGGGGGAGGGGGAGGGG , LRG_766:g.74104_74105insGAGGGGGAGGGGGAGGGGGAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG ENSP00000471601.2:n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGG...
ENST00000359596.8:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG MANE Select ENSP00000352608.2:n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGG...
ENST00000355481.8:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG ENSP00000347667.3:n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGG...
ENST00000359596.7:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG ENSP00000352608.2:n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGG...
ENST00000360985.7:c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGG ENSP00000354254.4:n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGG...
ENST00000594335.5:c.1288-77_1288-76insGAGGGGGAGGGGGAGGGGGAGGGG
NM_000540.2:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG , LRG_766t1:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG NP_000531.2:n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG
NM_001042723.1:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG NP_001036188.1:n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG
XM_006723317.1:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG XP_006723380.1:n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG
XM_006723319.1:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG XP_006723382.1:n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG
XM_011527204.1:c.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGG XP_011525506.1:n.7833-77_7833-76insGAGGGGGAGGGGGAGGGGGAGGGG
XM_011527205.1:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG XP_011525507.1:n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG
XM_006723317.2:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG XP_006723380.1:n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG
XM_006723319.2:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG XP_006723382.1:n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG
XM_011527205.2:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG XP_011525507.1:n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG
XR_001753735.1:n.7919-77_7919-76insGAGGGGGAGGGGGAGGGGGAGGGG
NM_000540.3:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG MANE Select NP_000531.2:n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG
NM_001042723.2:c.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG NP_001036188.1:n.7836-77_7836-76insGAGGGGGAGGGGGAGGGGGAGGGG