Canonical Allele Identifier: CA405681161
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1364087
ClinVar RCV Id: RCV001905229
dbSNP Id: rs2145870190

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38572197C>T , CM000681.2:g.38572197C>T GRCh38
NC_000019.9:g.39062837C>T , CM000681.1:g.39062837C>T GRCh37
NC_000019.8:g.43754677C>T NCBI36
NG_008866.1:g.143498C>T , LRG_766:g.143498C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.861C>T
ENST00000688602.1:c.2258C>T
ENST00000689936.1:c.2230C>T
ENST00000359596.8:c.13925C>T MANE Select ENSP00000352608.2:p.Pro4642Leu
ENST00000355481.8:c.13910C>T ENSP00000347667.3:p.Pro4637Leu
ENST00000359596.7:c.13925C>T ENSP00000352608.2:p.Pro4642Leu
ENST00000360985.7:c.13907C>T ENSP00000354254.4:p.Pro4636Leu
ENST00000593677.1:c.385C>T
NM_000540.2:c.13925C>T , LRG_766t1:c.13925C>T NP_000531.2:p.Pro4642Leu
NM_001042723.1:c.13910C>T NP_001036188.1:p.Pro4637Leu
XM_006723317.1:c.13907C>T XP_006723380.1:p.Pro4636Leu
XM_006723319.1:c.13892C>T XP_006723382.1:p.Pro4631Leu
XM_011527204.1:c.13922C>T XP_011525506.1:p.Pro4641Leu
XM_011527205.1:c.13838C>T XP_011525507.1:p.Pro4613Leu
XM_006723317.2:c.13907C>T XP_006723380.1:p.Pro4636Leu
XM_006723319.2:c.13892C>T XP_006723382.1:p.Pro4631Leu
XM_011527205.2:c.13838C>T XP_011525507.1:p.Pro4613Leu
NM_000540.3:c.13925C>T MANE Select NP_000531.2:p.Pro4642Leu
NM_001042723.2:c.13910C>T NP_001036188.1:p.Pro4637Leu