Canonical Allele Identifier: CA916082460
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 860116
ClinVar RCV Id: RCV001066368 RCV001532378
dbSNP Id: rs1969980104
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38499149dup , CM000681.2:g.38499149dup GRCh38
NC_000019.9:g.38989789dup , CM000681.1:g.38989789dup GRCh37
NC_000019.8:g.43681629dup NCBI36
NG_008866.1:g.70450dup , LRG_766:g.70450dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.6933dup ENSP00000471601.2:p.Met2312HisfsTer?
ENST00000359596.8:c.6933dup MANE Select ENSP00000352608.2:p.Met2312HisfsTer?
ENST00000355481.8:c.6933dup ENSP00000347667.3:p.Met2312HisfsTer?
ENST00000359596.7:c.6933dup ENSP00000352608.2:p.Met2312HisfsTer?
ENST00000360985.7:c.6930dup ENSP00000354254.4:p.Met2311HisfsTer?
ENST00000594335.5:c.385dup
NM_000540.2:c.6933dup , LRG_766t1:c.6933dup NP_000531.2:p.Met2312HisfsTer?
NM_001042723.1:c.6933dup NP_001036188.1:p.Met2312HisfsTer?
XM_006723317.1:c.6933dup XP_006723380.1:p.Met2312HisfsTer?
XM_006723319.1:c.6933dup XP_006723382.1:p.Met2312HisfsTer?
XM_011527204.1:c.6930dup XP_011525506.1:p.Met2311HisfsTer?
XM_011527205.1:c.6933dup XP_011525507.1:p.Met2312HisfsTer?
XM_006723317.2:c.6933dup XP_006723380.1:p.Met2312HisfsTer?
XM_006723319.2:c.6933dup XP_006723382.1:p.Met2312HisfsTer?
XM_011527205.2:c.6933dup XP_011525507.1:p.Met2312HisfsTer?
XR_001753735.1:n.7016dup
NM_000540.3:c.6933dup MANE Select NP_000531.2:p.Met2312HisfsTer?
NM_001042723.2:c.6933dup NP_001036188.1:p.Met2312HisfsTer?
Search 100 bp 5'
Search 100 bp 3'