Canonical Allele Identifier: CA882058928
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1433911
ClinVar RCV Id: RCV001952754
dbSNP Id: rs1271736045

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565386_38565391dup , CM000681.2:g.38565386_38565391dup GRCh38
NC_000019.9:g.39056026_39056031dup , CM000681.1:g.39056026_39056031dup GRCh37
NC_000019.8:g.43747866_43747871dup NCBI36
NG_008866.1:g.136687_136692dup , LRG_766:g.136687_136692dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.1462_1467dup
ENST00000689936.1:c.1444_1449dup
ENST00000359596.8:c.13052_13057dup MANE Select ENSP00000352608.2:p.Ala4352_Gly4353insAlaAla
ENST00000355481.8:c.13037_13042dup ENSP00000347667.3:p.Ala4347_Gly4348insAlaAla
ENST00000359596.7:c.13052_13057dup ENSP00000352608.2:p.Ala4352_Gly4353insAlaAla
ENST00000360985.7:c.13034_13039dup ENSP00000354254.4:p.Ala4346_Gly4347insAlaAla
NM_000540.2:c.13052_13057dup , LRG_766t1:c.13052_13057dup NP_000531.2:p.Ala4352_Gly4353insAlaAla
NM_001042723.1:c.13037_13042dup NP_001036188.1:p.Ala4347_Gly4348insAlaAla
XM_006723317.1:c.13034_13039dup XP_006723380.1:p.Ala4346_Gly4347insAlaAla
XM_006723319.1:c.13019_13024dup XP_006723382.1:p.Ala4341_Gly4342insAlaAla
XM_011527204.1:c.13049_13054dup XP_011525506.1:p.Ala4351_Gly4352insAlaAla
XM_011527205.1:c.13052_13057dup XP_011525507.1:p.Ala4352_Gly4353insAlaAla
XM_006723317.2:c.13034_13039dup XP_006723380.1:p.Ala4346_Gly4347insAlaAla
XM_006723319.2:c.13019_13024dup XP_006723382.1:p.Ala4341_Gly4342insAlaAla
XM_011527205.2:c.13052_13057dup XP_011525507.1:p.Ala4352_Gly4353insAlaAla
NM_000540.3:c.13052_13057dup MANE Select NP_000531.2:p.Ala4352_Gly4353insAlaAla
NM_001042723.2:c.13037_13042dup NP_001036188.1:p.Ala4347_Gly4348insAlaAla