Canonical Allele Identifier: CA2843262441

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38500700dup , CM000681.2:g.38500700dup	GRCh38
NC_000019.9:g.38991340dup , CM000681.1:g.38991340dup	GRCh37
NC_000019.8:g.43683180dup	NCBI36
NG_008866.1:g.72001dup , LRG_766:g.72001dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000599547.6:c.7418dup	ENSP00000471601.2:p.Leu2474ThrfsTer?
ENST00000359596.8:c.7418dup MANE Select	ENSP00000352608.2:p.Leu2474ThrfsTer?
ENST00000355481.8:c.7418dup	ENSP00000347667.3:p.Leu2474ThrfsTer?
ENST00000359596.7:c.7418dup	ENSP00000352608.2:p.Leu2474ThrfsTer?
ENST00000360985.7:c.7415dup	ENSP00000354254.4:p.Leu2473ThrfsTer?
ENST00000594335.5:c.870dup
NM_000540.2:c.7418dup , LRG_766t1:c.7418dup	NP_000531.2:p.Leu2474ThrfsTer?
NM_001042723.1:c.7418dup	NP_001036188.1:p.Leu2474ThrfsTer?
XM_006723317.1:c.7418dup	XP_006723380.1:p.Leu2474ThrfsTer?
XM_006723319.1:c.7418dup	XP_006723382.1:p.Leu2474ThrfsTer?
XM_011527204.1:c.7415dup	XP_011525506.1:p.Leu2473ThrfsTer?
XM_011527205.1:c.7418dup	XP_011525507.1:p.Leu2474ThrfsTer?
XM_006723317.2:c.7418dup	XP_006723380.1:p.Leu2474ThrfsTer?
XM_006723319.2:c.7418dup	XP_006723382.1:p.Leu2474ThrfsTer?
XM_011527205.2:c.7418dup	XP_011525507.1:p.Leu2474ThrfsTer?
XR_001753735.1:n.7501dup
NM_000540.3:c.7418dup MANE Select	NP_000531.2:p.Leu2474ThrfsTer?
NM_001042723.2:c.7418dup	NP_001036188.1:p.Leu2474ThrfsTer?