Canonical Allele Identifier: CA2584910039

Gene: RYR1

Linked Data

• gnomAD v4: 19-38572130-G-GCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38572131_38572134dup , CM000681.2:g.38572131_38572134dup	GRCh38
NC_000019.9:g.39062771_39062774dup , CM000681.1:g.39062771_39062774dup	GRCh37
NC_000019.8:g.43754611_43754614dup	NCBI36
NG_008866.1:g.143432_143435dup , LRG_766:g.143432_143435dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.795_798dup
ENST00000688602.1:c.2192_2195dup
ENST00000689936.1:c.2164_2167dup
ENST00000359596.8:c.13859_13862dup MANE Select	ENSP00000352608.2:p.Glu4621AspfsTer5
ENST00000355481.8:c.13844_13847dup	ENSP00000347667.3:p.Glu4616AspfsTer5
ENST00000359596.7:c.13859_13862dup	ENSP00000352608.2:p.Glu4621AspfsTer5
ENST00000360985.7:c.13841_13844dup	ENSP00000354254.4:p.Glu4615AspfsTer5
ENST00000593677.1:c.319_322dup
NM_000540.2:c.13859_13862dup , LRG_766t1:c.13859_13862dup	NP_000531.2:p.Glu4621AspfsTer5
NM_001042723.1:c.13844_13847dup	NP_001036188.1:p.Glu4616AspfsTer5
XM_006723317.1:c.13841_13844dup	XP_006723380.1:p.Glu4615AspfsTer5
XM_006723319.1:c.13826_13829dup	XP_006723382.1:p.Glu4610AspfsTer5
XM_011527204.1:c.13856_13859dup	XP_011525506.1:p.Glu4620AspfsTer5
XM_011527205.1:c.13772_13775dup	XP_011525507.1:p.Glu4592AspfsTer5
XM_006723317.2:c.13841_13844dup	XP_006723380.1:p.Glu4615AspfsTer5
XM_006723319.2:c.13826_13829dup	XP_006723382.1:p.Glu4610AspfsTer5
XM_011527205.2:c.13772_13775dup	XP_011525507.1:p.Glu4592AspfsTer5
NM_000540.3:c.13859_13862dup MANE Select	NP_000531.2:p.Glu4621AspfsTer5
NM_001042723.2:c.13844_13847dup	NP_001036188.1:p.Glu4616AspfsTer5