Canonical Allele Identifier: CA633066237
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1568506175

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502789_38502790insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG , CM000681.2:g.38502789_38502790insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG GRCh38
NC_000019.9:g.38993429_38993430insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG , CM000681.1:g.38993429_38993430insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG GRCh37
NC_000019.8:g.43685269_43685270insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG NCBI36
NG_008866.1:g.74090_74091insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG , LRG_766:g.74090_74091insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG ENSP00000471601.2:n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGG...
ENST00000359596.8:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG MANE Select ENSP00000352608.2:n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGG...
ENST00000355481.8:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG ENSP00000347667.3:n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGG...
ENST00000359596.7:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG ENSP00000352608.2:n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGG...
ENST00000360985.7:c.7832+62_7832+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG ENSP00000354254.4:n.7832+62_7832+63insCTTCAGGGTGGGGCAGGGGCAGG...
ENST00000594335.5:c.1287+62_1287+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG
NM_000540.2:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG , LRG_766t1:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG NP_000531.2:n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG...
NM_001042723.1:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG NP_001036188.1:n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGC...
XM_006723317.1:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG XP_006723380.1:n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGC...
XM_006723319.1:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG XP_006723382.1:n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGC...
XM_011527204.1:c.7832+62_7832+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG XP_011525506.1:n.7832+62_7832+63insCTTCAGGGTGGGGCAGGGGCAGGGGC...
XM_011527205.1:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG XP_011525507.1:n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGC...
XM_006723317.2:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG XP_006723380.1:n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGC...
XM_006723319.2:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG XP_006723382.1:n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGC...
XM_011527205.2:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG XP_011525507.1:n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGC...
XR_001753735.1:n.7918+62_7918+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG
NM_000540.3:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG MANE Select NP_000531.2:n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGG...
NM_001042723.2:c.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGCAGGGGCAGG NP_001036188.1:n.7835+62_7835+63insCTTCAGGGTGGGGCAGGGGCAGGGGC...