Canonical Allele Identifier: CA995718020
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502795_38502796insCGCAGG , CM000681.2:g.38502795_38502796insCGCAGG GRCh38
NC_000019.9:g.38993435_38993436insCGCAGG , CM000681.1:g.38993435_38993436insCGCAGG GRCh37
NC_000019.8:g.43685275_43685276insCGCAGG NCBI36
NG_008866.1:g.74096_74097insCGCAGG , LRG_766:g.74096_74097insCGCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+68_7835+69insCGCAGG ENSP00000471601.2:n.7835+68_7835+69insCGCAGG
ENST00000359596.8:c.7835+68_7835+69insCGCAGG MANE Select ENSP00000352608.2:n.7835+68_7835+69insCGCAGG
ENST00000355481.8:c.7835+68_7835+69insCGCAGG ENSP00000347667.3:n.7835+68_7835+69insCGCAGG
ENST00000359596.7:c.7835+68_7835+69insCGCAGG ENSP00000352608.2:n.7835+68_7835+69insCGCAGG
ENST00000360985.7:c.7832+68_7832+69insCGCAGG ENSP00000354254.4:n.7832+68_7832+69insCGCAGG
ENST00000594335.5:c.1287+68_1287+69insCGCAGG
NM_000540.2:c.7835+68_7835+69insCGCAGG , LRG_766t1:c.7835+68_7835+69insCGCAGG NP_000531.2:n.7835+68_7835+69insCGCAGG
NM_001042723.1:c.7835+68_7835+69insCGCAGG NP_001036188.1:n.7835+68_7835+69insCGCAGG
XM_006723317.1:c.7835+68_7835+69insCGCAGG XP_006723380.1:n.7835+68_7835+69insCGCAGG
XM_006723319.1:c.7835+68_7835+69insCGCAGG XP_006723382.1:n.7835+68_7835+69insCGCAGG
XM_011527204.1:c.7832+68_7832+69insCGCAGG XP_011525506.1:n.7832+68_7832+69insCGCAGG
XM_011527205.1:c.7835+68_7835+69insCGCAGG XP_011525507.1:n.7835+68_7835+69insCGCAGG
XM_006723317.2:c.7835+68_7835+69insCGCAGG XP_006723380.1:n.7835+68_7835+69insCGCAGG
XM_006723319.2:c.7835+68_7835+69insCGCAGG XP_006723382.1:n.7835+68_7835+69insCGCAGG
XM_011527205.2:c.7835+68_7835+69insCGCAGG XP_011525507.1:n.7835+68_7835+69insCGCAGG
XR_001753735.1:n.7918+68_7918+69insCGCAGG
NM_000540.3:c.7835+68_7835+69insCGCAGG MANE Select NP_000531.2:n.7835+68_7835+69insCGCAGG
NM_001042723.2:c.7835+68_7835+69insCGCAGG NP_001036188.1:n.7835+68_7835+69insCGCAGG