Canonical Allele Identifier: CA633066284
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1491495422

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502797_38502798insGAGGGGGAGGGGGAGGGG , CM000681.2:g.38502797_38502798insGAGGGGGAGGGGGAGGGG GRCh38
NC_000019.9:g.38993437_38993438insGAGGGGGAGGGGGAGGGG , CM000681.1:g.38993437_38993438insGAGGGGGAGGGGGAGGGG GRCh37
NC_000019.8:g.43685277_43685278insGAGGGGGAGGGGGAGGGG NCBI36
NG_008866.1:g.74098_74099insGAGGGGGAGGGGGAGGGG , LRG_766:g.74098_74099insGAGGGGGAGGGGGAGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG ENSP00000471601.2:n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG
ENST00000359596.8:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG MANE Select ENSP00000352608.2:n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG
ENST00000355481.8:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG ENSP00000347667.3:n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG
ENST00000359596.7:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG ENSP00000352608.2:n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG
ENST00000360985.7:c.7832+70_7832+71insGAGGGGGAGGGGGAGGGG ENSP00000354254.4:n.7832+70_7832+71insGAGGGGGAGGGGGAGGGG
ENST00000594335.5:c.1287+70_1287+71insGAGGGGGAGGGGGAGGGG
NM_000540.2:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG , LRG_766t1:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG NP_000531.2:n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG
NM_001042723.1:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG NP_001036188.1:n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG
XM_006723317.1:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG XP_006723380.1:n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG
XM_006723319.1:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG XP_006723382.1:n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG
XM_011527204.1:c.7832+70_7832+71insGAGGGGGAGGGGGAGGGG XP_011525506.1:n.7832+70_7832+71insGAGGGGGAGGGGGAGGGG
XM_011527205.1:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG XP_011525507.1:n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG
XM_006723317.2:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG XP_006723380.1:n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG
XM_006723319.2:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG XP_006723382.1:n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG
XM_011527205.2:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG XP_011525507.1:n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG
XR_001753735.1:n.7918+70_7918+71insGAGGGGGAGGGGGAGGGG
NM_000540.3:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG MANE Select NP_000531.2:n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG
NM_001042723.2:c.7835+70_7835+71insGAGGGGGAGGGGGAGGGG NP_001036188.1:n.7835+70_7835+71insGAGGGGGAGGGGGAGGGG