Canonical Allele Identifier: CA405668238
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 430525
ClinVar RCV Id: RCV000493566
dbSNP Id: rs1131692006

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499728C>T , CM000681.2:g.38499728C>T GRCh38
NC_000019.9:g.38990368C>T , CM000681.1:g.38990368C>T GRCh37
NC_000019.8:g.43682208C>T NCBI36
NG_008866.1:g.71029C>T , LRG_766:g.71029C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7121C>T ENSP00000471601.2:p.Ser2374Leu
ENST00000359596.8:c.7121C>T MANE Select ENSP00000352608.2:p.Ser2374Leu
ENST00000355481.8:c.7121C>T ENSP00000347667.3:p.Ser2374Leu
ENST00000359596.7:c.7121C>T ENSP00000352608.2:p.Ser2374Leu
ENST00000360985.7:c.7118C>T ENSP00000354254.4:p.Ser2373Leu
ENST00000594335.5:c.573C>T
NM_000540.2:c.7121C>T , LRG_766t1:c.7121C>T NP_000531.2:p.Ser2374Leu
NM_001042723.1:c.7121C>T NP_001036188.1:p.Ser2374Leu
XM_006723317.1:c.7121C>T XP_006723380.1:p.Ser2374Leu
XM_006723319.1:c.7121C>T XP_006723382.1:p.Ser2374Leu
XM_011527204.1:c.7118C>T XP_011525506.1:p.Ser2373Leu
XM_011527205.1:c.7121C>T XP_011525507.1:p.Ser2374Leu
XM_006723317.2:c.7121C>T XP_006723380.1:p.Ser2374Leu
XM_006723319.2:c.7121C>T XP_006723382.1:p.Ser2374Leu
XM_011527205.2:c.7121C>T XP_011525507.1:p.Ser2374Leu
XR_001753735.1:n.7204C>T
NM_000540.3:c.7121C>T MANE Select NP_000531.2:p.Ser2374Leu
NM_001042723.2:c.7121C>T NP_001036188.1:p.Ser2374Leu