Canonical Allele Identifier: CA2335054473
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2728718
ClinVar RCV Id: RCV003593133
dbSNP Id: rs1970197851
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38502738dup , CM000681.2:g.38502738dup GRCh38
NC_000019.9:g.38993378dup , CM000681.1:g.38993378dup GRCh37
NC_000019.8:g.43685218dup NCBI36
NG_008866.1:g.74039dup , LRG_766:g.74039dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000599547.6:c.7835+11dup ENSP00000471601.2:n.7835+11dup
ENST00000359596.8:c.7835+11dup MANE Select ENSP00000352608.2:n.7835+11dup
ENST00000355481.8:c.7835+11dup ENSP00000347667.3:n.7835+11dup
ENST00000359596.7:c.7835+11dup ENSP00000352608.2:n.7835+11dup
ENST00000360985.7:c.7832+11dup ENSP00000354254.4:n.7832+11dup
ENST00000594335.5:c.1287+11dup
NM_000540.2:c.7835+11dup , LRG_766t1:c.7835+11dup NP_000531.2:n.7835+11dup
NM_001042723.1:c.7835+11dup NP_001036188.1:n.7835+11dup
XM_006723317.1:c.7835+11dup XP_006723380.1:n.7835+11dup
XM_006723319.1:c.7835+11dup XP_006723382.1:n.7835+11dup
XM_011527204.1:c.7832+11dup XP_011525506.1:n.7832+11dup
XM_011527205.1:c.7835+11dup XP_011525507.1:n.7835+11dup
XM_006723317.2:c.7835+11dup XP_006723380.1:n.7835+11dup
XM_006723319.2:c.7835+11dup XP_006723382.1:n.7835+11dup
XM_011527205.2:c.7835+11dup XP_011525507.1:n.7835+11dup
XR_001753735.1:n.7918+11dup
NM_000540.3:c.7835+11dup MANE Select NP_000531.2:n.7835+11dup
NM_001042723.2:c.7835+11dup NP_001036188.1:n.7835+11dup
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