Canonical Allele Identifier: CA405671973
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 654508
ClinVar RCV Id: RCV000810482
dbSNP Id: rs577314143

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502649T>A , CM000681.2:g.38502649T>A GRCh38
NC_000019.9:g.38993289T>A , CM000681.1:g.38993289T>A GRCh37
NC_000019.8:g.43685129T>A NCBI36
NG_008866.1:g.73950T>A , LRG_766:g.73950T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7757T>A ENSP00000471601.2:p.Val2586Glu
ENST00000359596.8:c.7757T>A MANE Select ENSP00000352608.2:p.Val2586Glu
ENST00000355481.8:c.7757T>A ENSP00000347667.3:p.Val2586Glu
ENST00000359596.7:c.7757T>A ENSP00000352608.2:p.Val2586Glu
ENST00000360985.7:c.7754T>A ENSP00000354254.4:p.Val2585Glu
ENST00000594335.5:c.1209T>A
NM_000540.2:c.7757T>A , LRG_766t1:c.7757T>A NP_000531.2:p.Val2586Glu
NM_001042723.1:c.7757T>A NP_001036188.1:p.Val2586Glu
XM_006723317.1:c.7757T>A XP_006723380.1:p.Val2586Glu
XM_006723319.1:c.7757T>A XP_006723382.1:p.Val2586Glu
XM_011527204.1:c.7754T>A XP_011525506.1:p.Val2585Glu
XM_011527205.1:c.7757T>A XP_011525507.1:p.Val2586Glu
XM_006723317.2:c.7757T>A XP_006723380.1:p.Val2586Glu
XM_006723319.2:c.7757T>A XP_006723382.1:p.Val2586Glu
XM_011527205.2:c.7757T>A XP_011525507.1:p.Val2586Glu
XR_001753735.1:n.7840T>A
NM_000540.3:c.7757T>A MANE Select NP_000531.2:p.Val2586Glu
NM_001042723.2:c.7757T>A NP_001036188.1:p.Val2586Glu