Canonical Allele Identifier: CA405671664
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2649803
ClinVar RCV Id: RCV003406961 RCV004011313
dbSNP Id: rs755925039
gnomAD v4: 19-38502588-G-A
MyVariant Identifiers: chr19:g.38993228G>A (hg19) chr19:g.38502588G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502588G>A , CM000681.2:g.38502588G>A GRCh38
NC_000019.9:g.38993228G>A , CM000681.1:g.38993228G>A GRCh37
NC_000019.8:g.43685068G>A NCBI36
NG_008866.1:g.73889G>A , LRG_766:g.73889G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7696G>A ENSP00000471601.2:p.Ala2566Thr
ENST00000359596.8:c.7696G>A MANE Select ENSP00000352608.2:p.Ala2566Thr
ENST00000355481.8:c.7696G>A ENSP00000347667.3:p.Ala2566Thr
ENST00000359596.7:c.7696G>A ENSP00000352608.2:p.Ala2566Thr
ENST00000360985.7:c.7693G>A ENSP00000354254.4:p.Ala2565Thr
ENST00000594335.5:c.1148G>A
NM_000540.2:c.7696G>A , LRG_766t1:c.7696G>A NP_000531.2:p.Ala2566Thr
NM_001042723.1:c.7696G>A NP_001036188.1:p.Ala2566Thr
XM_006723317.1:c.7696G>A XP_006723380.1:p.Ala2566Thr
XM_006723319.1:c.7696G>A XP_006723382.1:p.Ala2566Thr
XM_011527204.1:c.7693G>A XP_011525506.1:p.Ala2565Thr
XM_011527205.1:c.7696G>A XP_011525507.1:p.Ala2566Thr
XM_006723317.2:c.7696G>A XP_006723380.1:p.Ala2566Thr
XM_006723319.2:c.7696G>A XP_006723382.1:p.Ala2566Thr
XM_011527205.2:c.7696G>A XP_011525507.1:p.Ala2566Thr
XR_001753735.1:n.7779G>A
NM_000540.3:c.7696G>A MANE Select NP_000531.2:p.Ala2566Thr
NM_001042723.2:c.7696G>A NP_001036188.1:p.Ala2566Thr
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