Canonical Allele Identifier: CA2584909159
Gene: RYR1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565543_38565578dup , CM000681.2:g.38565543_38565578dup GRCh38
NC_000019.9:g.39056183_39056218dup , CM000681.1:g.39056183_39056218dup GRCh37
NC_000019.8:g.43748023_43748058dup NCBI36
NG_008866.1:g.136844_136879dup , LRG_766:g.136844_136879dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000593677.2:c.145_180dup
ENST00000688602.1:c.1619_1654dup
ENST00000689936.1:c.1601_1636dup
ENST00000359596.8:c.13209_13244dup MANE Select ENSP00000352608.2:p.Ala4415_Ala4416insAspGlyGluGlyAlaSerGluGl...
ENST00000355481.8:c.13194_13229dup ENSP00000347667.3:p.Ala4410_Ala4411insAspGlyGluGlyAlaSerGluGl...
ENST00000359596.7:c.13209_13244dup ENSP00000352608.2:p.Ala4415_Ala4416insAspGlyGluGlyAlaSerGluGl...
ENST00000360985.7:c.13191_13226dup ENSP00000354254.4:p.Ala4409_Ala4410insAspGlyGluGlyAlaSerGluGl...
NM_000540.2:c.13209_13244dup , LRG_766t1:c.13209_13244dup NP_000531.2:p.Ala4415_Ala4416insAspGlyGluGlyAlaSerGluGlyAlaGl...
NM_001042723.1:c.13194_13229dup NP_001036188.1:p.Ala4410_Ala4411insAspGlyGluGlyAlaSerGluGlyAl...
XM_006723317.1:c.13191_13226dup XP_006723380.1:p.Ala4409_Ala4410insAspGlyGluGlyAlaSerGluGlyAl...
XM_006723319.1:c.13176_13211dup XP_006723382.1:p.Ala4404_Ala4405insAspGlyGluGlyAlaSerGluGlyAl...
XM_011527204.1:c.13206_13241dup XP_011525506.1:p.Ala4414_Ala4415insAspGlyGluGlyAlaSerGluGlyAl...
XM_011527205.1:c.13209_13244dup XP_011525507.1:p.Ala4415_Ala4416insAspGlyGluGlyAlaSerGluGlyAl...
XM_006723317.2:c.13191_13226dup XP_006723380.1:p.Ala4409_Ala4410insAspGlyGluGlyAlaSerGluGlyAl...
XM_006723319.2:c.13176_13211dup XP_006723382.1:p.Ala4404_Ala4405insAspGlyGluGlyAlaSerGluGlyAl...
XM_011527205.2:c.13209_13244dup XP_011525507.1:p.Ala4415_Ala4416insAspGlyGluGlyAlaSerGluGlyAl...
NM_000540.3:c.13209_13244dup MANE Select NP_000531.2:p.Ala4415_Ala4416insAspGlyGluGlyAlaSerGluGlyAlaGl...
NM_001042723.2:c.13194_13229dup NP_001036188.1:p.Ala4410_Ala4411insAspGlyGluGlyAlaSerGluGlyAl...