Canonical Allele Identifier: CA16607807
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379719
ClinVar RCV Id: RCV000420141
dbSNP Id: rs1057520711

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38580112C>A , CM000681.2:g.38580112C>A GRCh38
NC_000019.9:g.39070752C>A , CM000681.1:g.39070752C>A GRCh37
NC_000019.8:g.43762592C>A NCBI36
NG_008866.1:g.151413C>A , LRG_766:g.151413C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000593677.2:c.1431C>A
ENST00000688602.1:c.2828C>A
ENST00000689936.1:c.2800C>A
ENST00000359596.8:c.14495C>A MANE Select ENSP00000352608.2:p.Thr4832Asn
ENST00000355481.8:c.14480C>A ENSP00000347667.3:p.Thr4827Asn
ENST00000359596.7:c.14495C>A ENSP00000352608.2:p.Thr4832Asn
ENST00000360985.7:c.14477C>A ENSP00000354254.4:p.Thr4826Asn
NM_000540.2:c.14495C>A , LRG_766t1:c.14495C>A NP_000531.2:p.Thr4832Asn
NM_001042723.1:c.14480C>A NP_001036188.1:p.Thr4827Asn
XM_006723317.1:c.14477C>A XP_006723380.1:p.Thr4826Asn
XM_006723319.1:c.14462C>A XP_006723382.1:p.Thr4821Asn
XM_011527204.1:c.14492C>A XP_011525506.1:p.Thr4831Asn
XM_011527205.1:c.14408C>A XP_011525507.1:p.Thr4803Asn
XM_006723317.2:c.14477C>A XP_006723380.1:p.Thr4826Asn
XM_006723319.2:c.14462C>A XP_006723382.1:p.Thr4821Asn
XM_011527205.2:c.14408C>A XP_011525507.1:p.Thr4803Asn
NM_000540.3:c.14495C>A MANE Select NP_000531.2:p.Thr4832Asn
NM_001042723.2:c.14480C>A NP_001036188.1:p.Thr4827Asn