Canonical Allele Identifier: CA16620831
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418461
ClinVar RCV Id: RCV000482526
dbSNP Id: rs1064793254

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38478570del , CM000681.2:g.38478570del GRCh38
NC_000019.9:g.38969210del , CM000681.1:g.38969210del GRCh37
NC_000019.8:g.43661050del NCBI36
NG_008866.1:g.49871del , LRG_766:g.49871del

Transcript Alleles

HGVS Amino-acid change
ENST00000599547.6:c.4590del ENSP00000471601.2:p.Asn1531MetfsTer?
ENST00000359596.8:c.4590del MANE Select ENSP00000352608.2:p.Asn1531MetfsTer?
ENST00000355481.8:c.4590del ENSP00000347667.3:p.Asn1531MetfsTer?
ENST00000359596.7:c.4590del ENSP00000352608.2:p.Asn1531MetfsTer?
ENST00000360985.7:c.4587del ENSP00000354254.4:p.Asn1530MetfsTer?
NM_000540.2:c.4590del , LRG_766t1:c.4590del NP_000531.2:p.Asn1531MetfsTer?
NM_001042723.1:c.4590del NP_001036188.1:p.Asn1531MetfsTer?
XM_006723317.1:c.4590del XP_006723380.1:p.Asn1531MetfsTer?
XM_006723319.1:c.4590del XP_006723382.1:p.Asn1531MetfsTer?
XM_011527204.1:c.4587del XP_011525506.1:p.Asn1530MetfsTer?
XM_011527205.1:c.4590del XP_011525507.1:p.Asn1531MetfsTer?
XM_006723317.2:c.4590del XP_006723380.1:p.Asn1531MetfsTer?
XM_006723319.2:c.4590del XP_006723382.1:p.Asn1531MetfsTer?
XM_011527205.2:c.4590del XP_011525507.1:p.Asn1531MetfsTer?
XR_001753735.1:n.4673del
NM_000540.3:c.4590del MANE Select NP_000531.2:p.Asn1531MetfsTer?
NM_001042723.2:c.4590del NP_001036188.1:p.Asn1531MetfsTer?