Canonical Allele Identifier: CA405670407
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1394314
dbSNP Id: rs1970086291

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38500911T>C , CM000681.2:g.38500911T>C GRCh38
NC_000019.9:g.38991551T>C , CM000681.1:g.38991551T>C GRCh37
NC_000019.8:g.43683391T>C NCBI36
NG_008866.1:g.72212T>C , LRG_766:g.72212T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7535T>C ENSP00000471601.2:p.Ile2512Thr
ENST00000359596.8:c.7535T>C MANE Select ENSP00000352608.2:p.Ile2512Thr
ENST00000355481.8:c.7535T>C ENSP00000347667.3:p.Ile2512Thr
ENST00000359596.7:c.7535T>C ENSP00000352608.2:p.Ile2512Thr
ENST00000360985.7:c.7532T>C ENSP00000354254.4:p.Ile2511Thr
ENST00000594335.5:c.987T>C
NM_000540.2:c.7535T>C , LRG_766t1:c.7535T>C NP_000531.2:p.Ile2512Thr
NM_001042723.1:c.7535T>C NP_001036188.1:p.Ile2512Thr
XM_006723317.1:c.7535T>C XP_006723380.1:p.Ile2512Thr
XM_006723319.1:c.7535T>C XP_006723382.1:p.Ile2512Thr
XM_011527204.1:c.7532T>C XP_011525506.1:p.Ile2511Thr
XM_011527205.1:c.7535T>C XP_011525507.1:p.Ile2512Thr
XM_006723317.2:c.7535T>C XP_006723380.1:p.Ile2512Thr
XM_006723319.2:c.7535T>C XP_006723382.1:p.Ile2512Thr
XM_011527205.2:c.7535T>C XP_011525507.1:p.Ile2512Thr
XR_001753735.1:n.7618T>C
NM_000540.3:c.7535T>C MANE Select NP_000531.2:p.Ile2512Thr
NM_001042723.2:c.7535T>C NP_001036188.1:p.Ile2512Thr