Canonical Allele Identifier: CA024874
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 197609
dbSNP Id: rs142558977

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502967C>G , CM000681.2:g.38502967C>G GRCh38
NC_000019.9:g.38993607C>G , CM000681.1:g.38993607C>G GRCh37
NC_000019.8:g.43685447C>G NCBI36
NG_008866.1:g.74268C>G , LRG_766:g.74268C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000359596.8:c.7923C>G MANE Select ENSP00000352608.2:p.Leu2641=
ENST00000355481.8:c.7923C>G ENSP00000347667.3:p.Leu2641=
ENST00000359596.7:n.7923C>G ENSP00000352608.2:p.Leu2641=
ENST00000360985.7:c.7920C>G ENSP00000354254.4:p.Leu2640=
ENST00000594335.5:n.1375C>G
NM_000540.2:c.7923C>G , LRG_766t1:c.7923C>G NP_000531.2:p.Leu2641=
NM_001042723.1:c.7923C>G NP_001036188.1:p.Leu2641=
XM_006723317.1:c.7923C>G XP_006723380.1:p.Leu2641=
XM_006723319.1:c.7923C>G XP_006723382.1:p.Leu2641=
XM_011527204.1:c.7920C>G XP_011525506.1:p.Leu2640=
XM_011527205.1:c.7923C>G XP_011525507.1:p.Leu2641=
XM_006723317.2:c.7923C>G XP_006723380.1:p.Leu2641=
XM_006723319.2:c.7923C>G XP_006723382.1:p.Leu2641=
XM_011527205.2:c.7923C>G XP_011525507.1:p.Leu2641=
XR_001753735.1:n.8006C>G
NM_000540.3:c.7923C>G MANE Select NP_000531.2:p.Leu2641=
NM_001042723.2:c.7923C>G NP_001036188.1:p.Leu2641=