Canonical Allele Identifier: CA995718132
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502797_38502798insGAGGAG , CM000681.2:g.38502797_38502798insGAGGAG GRCh38
NC_000019.9:g.38993437_38993438insGAGGAG , CM000681.1:g.38993437_38993438insGAGGAG GRCh37
NC_000019.8:g.43685277_43685278insGAGGAG NCBI36
NG_008866.1:g.74098_74099insGAGGAG , LRG_766:g.74098_74099insGAGGAG

Transcript Alleles

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