Canonical Allele Identifier: CA024276
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133098
dbSNP Id: rs146876145
COSMIC: COSM241493

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38586140C>T , CM000681.2:g.38586140C>T GRCh38
NC_000019.9:g.39076780C>T , CM000681.1:g.39076780C>T GRCh37
NC_000019.8:g.43768620C>T NCBI36
NG_008866.1:g.157441C>T , LRG_766:g.157441C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.1854C>T
ENST00000688602.1:c.3251C>T
ENST00000689936.1:c.3223C>T
ENST00000692547.1:n.311C>T
ENST00000359596.8:c.14918C>T MANE Select ENSP00000352608.2:p.Pro4973Leu
ENST00000355481.8:c.14903C>T ENSP00000347667.3:p.Pro4968Leu
ENST00000359596.7:c.14918C>T ENSP00000352608.2:p.Pro4973Leu
ENST00000360985.7:c.14900C>T ENSP00000354254.4:p.Pro4967Leu
NM_000540.2:c.14918C>T , LRG_766t1:c.14918C>T NP_000531.2:p.Pro4973Leu
NM_001042723.1:c.14903C>T NP_001036188.1:p.Pro4968Leu
XM_006723317.1:c.14900C>T XP_006723380.1:p.Pro4967Leu
XM_006723319.1:c.14885C>T XP_006723382.1:p.Pro4962Leu
XM_011527204.1:c.14915C>T XP_011525506.1:p.Pro4972Leu
XM_011527205.1:c.14831C>T XP_011525507.1:p.Pro4944Leu
XM_006723317.2:c.14900C>T XP_006723380.1:p.Pro4967Leu
XM_006723319.2:c.14885C>T XP_006723382.1:p.Pro4962Leu
XM_011527205.2:c.14831C>T XP_011525507.1:p.Pro4944Leu
NM_000540.3:c.14918C>T MANE Select NP_000531.2:p.Pro4973Leu
NM_001042723.2:c.14903C>T NP_001036188.1:p.Pro4968Leu