Canonical Allele Identifier: CA024163
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133074
dbSNP Id: rs193922878

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580370C>G , CM000681.2:g.38580370C>G GRCh38
NC_000019.9:g.39071010C>G , CM000681.1:g.39071010C>G GRCh37
NC_000019.8:g.43762850C>G NCBI36
NG_008866.1:g.151671C>G , LRG_766:g.151671C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1448C>G
ENST00000688602.1:c.2845C>G
ENST00000689936.1:c.2817C>G
ENST00000359596.8:c.14512C>G MANE Select ENSP00000352608.2:p.Leu4838Val
ENST00000355481.8:c.14497C>G ENSP00000347667.3:p.Leu4833Val
ENST00000359596.7:c.14512C>G ENSP00000352608.2:p.Leu4838Val
ENST00000360985.7:c.14494C>G ENSP00000354254.4:p.Leu4832Val
NM_000540.2:c.14512C>G , LRG_766t1:c.14512C>G NP_000531.2:p.Leu4838Val
NM_001042723.1:c.14497C>G NP_001036188.1:p.Leu4833Val
XM_006723317.1:c.14494C>G XP_006723380.1:p.Leu4832Val
XM_006723319.1:c.14479C>G XP_006723382.1:p.Leu4827Val
XM_011527204.1:c.14509C>G XP_011525506.1:p.Leu4837Val
XM_011527205.1:c.14425C>G XP_011525507.1:p.Leu4809Val
XM_006723317.2:c.14494C>G XP_006723380.1:p.Leu4832Val
XM_006723319.2:c.14479C>G XP_006723382.1:p.Leu4827Val
XM_011527205.2:c.14425C>G XP_011525507.1:p.Leu4809Val
NM_000540.3:c.14512C>G MANE Select NP_000531.2:p.Leu4838Val
NM_001042723.2:c.14497C>G NP_001036188.1:p.Leu4833Val