Canonical Allele Identifier: CA066354

Gene: RYR1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38483080dup , CM000681.2:g.38483080dup	GRCh38
NC_000019.9:g.38973720dup , CM000681.1:g.38973720dup	GRCh37
NC_000019.8:g.43665560dup	NCBI36
NG_008866.1:g.54381dup , LRG_766:g.54381dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000540.3:c.4674dup MANE Select	NP_000531.2:p.Asn1559GlufsTer6
ENST00000359596.8:c.4674dup MANE Select	ENSP00000352608.2:p.Asn1559GlufsTer6
NM_000540.2:c.4674dup , LRG_766t1:c.4674dup	NP_000531.2:p.Asn1559GlufsTer6
NM_001042723.1:c.4674dup	NP_001036188.1:p.Asn1559GlufsTer6
NM_001042723.2:c.4674dup	NP_001036188.1:p.Asn1559GlufsTer6
ENST00000355481.8:c.4674dup	ENSP00000347667.3:p.Asn1559GlufsTer6
ENST00000359596.7:c.4674dup	ENSP00000352608.2:p.Asn1559GlufsTer6
ENST00000360985.7:c.4671dup	ENSP00000354254.4:p.Asn1558GlufsTer6
ENST00000599547.6:c.4674dup	ENSP00000471601.2:p.Asn1559GlufsTer6
XM_006723317.1:c.4674dup	XP_006723380.1:p.Asn1559GlufsTer6
XM_006723317.2:c.4674dup	XP_006723380.1:p.Asn1559GlufsTer6
XM_006723319.1:c.4674dup	XP_006723382.1:p.Asn1559GlufsTer6
XM_006723319.2:c.4674dup	XP_006723382.1:p.Asn1559GlufsTer6
XM_011527204.1:c.4671dup	XP_011525506.1:p.Asn1558GlufsTer6
XM_011527205.1:c.4674dup	XP_011525507.1:p.Asn1559GlufsTer6
XM_011527205.2:c.4674dup	XP_011525507.1:p.Asn1559GlufsTer6
XR_001753735.1:n.4757dup