Canonical Allele Identifier: CA633066823
Gene: RYR1 HGNC NCBI

Linked Data

dbSNP Id: rs1272045757

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565555_38565566del , CM000681.2:g.38565555_38565566del GRCh38
NC_000019.9:g.39056195_39056206del , CM000681.1:g.39056195_39056206del GRCh37
NC_000019.8:g.43748035_43748046del NCBI36
NG_008866.1:g.136856_136867del , LRG_766:g.136856_136867del

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.157_168del
ENST00000688602.1:c.1631_1642del
ENST00000689936.1:c.1613_1624del
ENST00000359596.8:c.13221_13232del MANE Select ENSP00000352608.2:p.Ala4408_Gly4411del
ENST00000355481.8:c.13206_13217del ENSP00000347667.3:p.Ala4403_Gly4406del
ENST00000359596.7:c.13221_13232del ENSP00000352608.2:p.Ala4408_Gly4411del
ENST00000360985.7:c.13203_13214del ENSP00000354254.4:p.Ala4402_Gly4405del
NM_000540.2:c.13221_13232del , LRG_766t1:c.13221_13232del NP_000531.2:p.Ala4408_Gly4411del
NM_001042723.1:c.13206_13217del NP_001036188.1:p.Ala4403_Gly4406del
XM_006723317.1:c.13203_13214del XP_006723380.1:p.Ala4402_Gly4405del
XM_006723319.1:c.13188_13199del XP_006723382.1:p.Ala4397_Gly4400del
XM_011527204.1:c.13218_13229del XP_011525506.1:p.Ala4407_Gly4410del
XM_011527205.1:c.13221_13232del XP_011525507.1:p.Ala4408_Gly4411del
XM_006723317.2:c.13203_13214del XP_006723380.1:p.Ala4402_Gly4405del
XM_006723319.2:c.13188_13199del XP_006723382.1:p.Ala4397_Gly4400del
XM_011527205.2:c.13221_13232del XP_011525507.1:p.Ala4408_Gly4411del
NM_000540.3:c.13221_13232del MANE Select NP_000531.2:p.Ala4408_Gly4411del
NM_001042723.2:c.13206_13217del NP_001036188.1:p.Ala4403_Gly4406del