Canonical Allele Identifier: CA023938
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133021
dbSNP Id: rs147136339

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38543551A>G , CM000681.2:g.38543551A>G GRCh38
NC_000019.9:g.39034191A>G , CM000681.1:g.39034191A>G GRCh37
NC_000019.8:g.43726031A>G NCBI36
NG_008866.1:g.114852A>G , LRG_766:g.114852A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.208A>G
ENST00000689936.1:c.190A>G
ENST00000359596.8:c.11798A>G MANE Select ENSP00000352608.2:p.Tyr3933Cys
ENST00000355481.8:c.11783A>G ENSP00000347667.3:p.Tyr3928Cys
ENST00000359596.7:c.11798A>G ENSP00000352608.2:p.Tyr3933Cys
ENST00000360985.7:c.11780A>G ENSP00000354254.4:p.Tyr3927Cys
ENST00000593322.1:c.407A>G
ENST00000594335.5:c.5167A>G
NM_000540.2:c.11798A>G , LRG_766t1:c.11798A>G NP_000531.2:p.Tyr3933Cys
NM_001042723.1:c.11783A>G NP_001036188.1:p.Tyr3928Cys
XM_006723317.1:c.11780A>G XP_006723380.1:p.Tyr3927Cys
XM_006723319.1:c.11765A>G XP_006723382.1:p.Tyr3922Cys
XM_011527204.1:c.11795A>G XP_011525506.1:p.Tyr3932Cys
XM_011527205.1:c.11798A>G XP_011525507.1:p.Tyr3933Cys
XM_006723317.2:c.11780A>G XP_006723380.1:p.Tyr3927Cys
XM_006723319.2:c.11765A>G XP_006723382.1:p.Tyr3922Cys
XM_011527205.2:c.11798A>G XP_011525507.1:p.Tyr3933Cys
NM_000540.3:c.11798A>G MANE Select NP_000531.2:p.Tyr3933Cys
NM_001042723.2:c.11783A>G NP_001036188.1:p.Tyr3928Cys