Canonical Allele Identifier: CA507355807
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1575489
ClinVar RCV Id: RCV002075175
dbSNP Id: rs1250000043

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565363T>G , CM000681.2:g.38565363T>G GRCh38
NC_000019.9:g.39056003T>G , CM000681.1:g.39056003T>G GRCh37
NC_000019.8:g.43747843T>G NCBI36
NG_008866.1:g.136664T>G , LRG_766:g.136664T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.1439T>G
ENST00000689936.1:c.1421T>G
ENST00000359596.8:c.13029T>G MANE Select ENSP00000352608.2:p.Ala4343=
ENST00000355481.8:c.13014T>G ENSP00000347667.3:p.Ala4338=
ENST00000359596.7:c.13029T>G ENSP00000352608.2:p.Ala4343=
ENST00000360985.7:c.13011T>G ENSP00000354254.4:p.Ala4337=
NM_000540.2:c.13029T>G , LRG_766t1:c.13029T>G NP_000531.2:p.Ala4343=
NM_001042723.1:c.13014T>G NP_001036188.1:p.Ala4338=
XM_006723317.1:c.13011T>G XP_006723380.1:p.Ala4337=
XM_006723319.1:c.12996T>G XP_006723382.1:p.Ala4332=
XM_011527204.1:c.13026T>G XP_011525506.1:p.Ala4342=
XM_011527205.1:c.13029T>G XP_011525507.1:p.Ala4343=
XM_006723317.2:c.13011T>G XP_006723380.1:p.Ala4337=
XM_006723319.2:c.12996T>G XP_006723382.1:p.Ala4332=
XM_011527205.2:c.13029T>G XP_011525507.1:p.Ala4343=
NM_000540.3:c.13029T>G MANE Select NP_000531.2:p.Ala4343=
NM_001042723.2:c.13014T>G NP_001036188.1:p.Ala4338=