Canonical Allele Identifier: CA042813

Gene: RYR1

Linked Data

• PubMed: PMID:20839240

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.[38489355_38489356del;38512253T>C] , CM000681.2:g.[38489355_38489356del;38512253T>C]	GRCh38
NC_000019.9:g.[38979995_38979996del;39002893T>C] , CM000681.1:g.[38979995_38979996del;39002893T>C]	GRCh37
NC_000019.8:g.[43671835_43671836del;43694733T>C]	NCBI36
NG_008866.1:g.[60656_60657del;83554T>C] , LRG_766:g.[60656_60657del;83554T>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.[5726_5727del;9181T>C]	ENSP00000471601.2:[p.9181T>C;n.Glu1909GlyfsTer39]
ENST00000359596.8:c.[5726_5727del;9242T>C] MANE Select	ENSP00000352608.2:p.Glu1909GlyfsTer39
ENST00000355481.8:c.[5726_5727del;9242T>C]	ENSP00000347667.3:p.Glu1909GlyfsTer39
ENST00000359596.7:c.[5726_5727del;9242T>C]	ENSP00000352608.2:p.Glu1909GlyfsTer39
ENST00000360985.7:c.[5723_5724del;9239T>C]	ENSP00000354254.4:p.Glu1908GlyfsTer39
NM_000540.2:c.[5726_5727del;9242T>C] , LRG_766t1:c.[5726_5727del;9242T>C]	NP_000531.2:p.Glu1909GlyfsTer39
NM_001042723.1:c.[5726_5727del;9242T>C]	NP_001036188.1:p.Glu1909GlyfsTer39
XM_006723317.1:c.[5726_5727del;9242T>C]	XP_006723380.1:p.Glu1909GlyfsTer39
XM_006723319.1:c.[5726_5727del;9242T>C]	XP_006723382.1:p.Glu1909GlyfsTer39
XM_011527204.1:c.[5723_5724del;9239T>C]	XP_011525506.1:p.Glu1908GlyfsTer39
XM_011527205.1:c.[5726_5727del;9242T>C]	XP_011525507.1:p.Glu1909GlyfsTer39
XM_006723317.2:c.[5726_5727del;9242T>C]	XP_006723380.1:p.Glu1909GlyfsTer39
XM_006723319.2:c.[5726_5727del;9242T>C]	XP_006723382.1:p.Glu1909GlyfsTer39
XM_011527205.2:c.[5726_5727del;9242T>C]	XP_011525507.1:p.Glu1909GlyfsTer39
XR_001753735.1:n.[5809_5810del;9275T>C]
NM_000540.3:c.[5726_5727del;9242T>C] MANE Select	NP_000531.2:p.Glu1909GlyfsTer39
NM_001042723.2:c.[5726_5727del;9242T>C]	NP_001036188.1:p.Glu1909GlyfsTer39