Canonical Allele Identifier: CA2695223186

Gene: RYR1

Linked Data

• ClinVar Variation Id: 2736883
• ClinVar RCV Id: RCV003593338

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38528607dup , CM000681.2:g.38528607dup	GRCh38
NC_000019.9:g.39019247dup , CM000681.1:g.39019247dup	GRCh37
NC_000019.8:g.43711087dup	NCBI36
NG_008866.1:g.99908dup , LRG_766:g.99908dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000599547.6:c.10885dup	ENSP00000471601.2:n.10885dup
ENST00000359596.8:c.10946dup MANE Select	ENSP00000352608.2:p.Cys3650MetfsTer2
ENST00000355481.8:c.10931dup	ENSP00000347667.3:p.Cys3645MetfsTer2
ENST00000359596.7:c.10946dup	ENSP00000352608.2:p.Cys3650MetfsTer2
ENST00000360985.7:c.10928dup	ENSP00000354254.4:p.Cys3644MetfsTer2
ENST00000594335.5:c.4333dup
ENST00000599547.5:c.1753dup
ENST00000601514.5:c.227dup	ENSP00000472497.1:p.Cys77MetfsTer2
NM_000540.2:c.10946dup , LRG_766t1:c.10946dup	NP_000531.2:p.Cys3650MetfsTer2
NM_001042723.1:c.10931dup	NP_001036188.1:p.Cys3645MetfsTer2
XM_006723317.1:c.10946dup	XP_006723380.1:p.Cys3650MetfsTer2
XM_006723319.1:c.10931dup	XP_006723382.1:p.Cys3645MetfsTer2
XM_011527204.1:c.10943dup	XP_011525506.1:p.Cys3649MetfsTer2
XM_011527205.1:c.10946dup	XP_011525507.1:p.Cys3650MetfsTer2
XM_006723317.2:c.10946dup	XP_006723380.1:p.Cys3650MetfsTer2
XM_006723319.2:c.10931dup	XP_006723382.1:p.Cys3645MetfsTer2
XM_011527205.2:c.10946dup	XP_011525507.1:p.Cys3650MetfsTer2
NM_000540.3:c.10946dup MANE Select	NP_000531.2:p.Cys3650MetfsTer2
NM_001042723.2:c.10931dup	NP_001036188.1:p.Cys3645MetfsTer2