Canonical Allele Identifier: CA025001
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167622
ClinVar RCV Id: RCV000153870
dbSNP Id: rs199828145

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38517396C>T , CM000681.2:g.38517396C>T GRCh38
NC_000019.9:g.39008036C>T , CM000681.1:g.39008036C>T GRCh37
NC_000019.8:g.43699876C>T NCBI36
NG_008866.1:g.88697C>T , LRG_766:g.88697C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000359596.8:c.9723C>T MANE Select ENSP00000352608.2:p.Pro3241=
ENST00000355481.8:c.9723C>T ENSP00000347667.3:p.Pro3241=
ENST00000359596.7:n.9723C>T ENSP00000352608.2:p.Pro3241=
ENST00000360985.7:c.9720C>T ENSP00000354254.4:p.Pro3240=
ENST00000594335.5:n.3125C>T
ENST00000599547.5:n.530C>T
NM_000540.2:c.9723C>T , LRG_766t1:c.9723C>T NP_000531.2:p.Pro3241=
NM_001042723.1:c.9723C>T NP_001036188.1:p.Pro3241=
XM_006723317.1:c.9723C>T XP_006723380.1:p.Pro3241=
XM_006723319.1:c.9723C>T XP_006723382.1:p.Pro3241=
XM_011527204.1:c.9720C>T XP_011525506.1:p.Pro3240=
XM_011527205.1:c.9723C>T XP_011525507.1:p.Pro3241=
XM_006723317.2:c.9723C>T XP_006723380.1:p.Pro3241=
XM_006723319.2:c.9723C>T XP_006723382.1:p.Pro3241=
XM_011527205.2:c.9723C>T XP_011525507.1:p.Pro3241=
XR_001753735.1:n.9756C>T
NM_000540.3:c.9723C>T MANE Select NP_000531.2:p.Pro3241=
NM_001042723.2:c.9723C>T NP_001036188.1:p.Pro3241=