Canonical Allele Identifier: CA2335084853
Gene: RYR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.38565389C= , CM000681.2:g.38565389C= GRCh38
NC_000019.9:g.39056029C= , CM000681.1:g.39056029C= GRCh37
NC_000019.8:g.43747869C= NCBI36
NG_008866.1:g.136690C= , LRG_766:g.136690C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000688602.1:c.1465C=
ENST00000689936.1:c.1447C=
ENST00000359596.8:c.13055C= MANE Select ENSP00000352608.2:p.Ala4352=
ENST00000355481.8:c.13040C= ENSP00000347667.3:p.Ala4347=
ENST00000359596.7:c.13055C= ENSP00000352608.2:p.Ala4352=
ENST00000360985.7:c.13037C= ENSP00000354254.4:p.Ala4346=
NM_000540.2:c.13055C= , LRG_766t1:c.13055C= NP_000531.2:p.Ala4352=
NM_001042723.1:c.13040C= NP_001036188.1:p.Ala4347=
XM_006723317.1:c.13037C= XP_006723380.1:p.Ala4346=
XM_006723319.1:c.13022C= XP_006723382.1:p.Ala4341=
XM_011527204.1:c.13052C= XP_011525506.1:p.Ala4351=
XM_011527205.1:c.13055C= XP_011525507.1:p.Ala4352=
XM_006723317.2:c.13037C= XP_006723380.1:p.Ala4346=
XM_006723319.2:c.13022C= XP_006723382.1:p.Ala4341=
XM_011527205.2:c.13055C= XP_011525507.1:p.Ala4352=
NM_000540.3:c.13055C= MANE Select NP_000531.2:p.Ala4352=
NM_001042723.2:c.13040C= NP_001036188.1:p.Ala4347=