Canonical Allele Identifier: CA2695204557

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946076dup , CM000667.2:g.70946076dup	GRCh38
NC_000005.9:g.70241903dup , CM000667.1:g.70241903dup	GRCh37
NC_000005.8:g.70277659dup	NCBI36
NG_008691.1:g.26136dup , LRG_676:g.26136dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.734dup MANE Select	ENSP00000370083.4:p.Pro246ThrfsTer10
ENST00000351205.8:c.734dup	ENSP00000305857.5:p.Pro246ThrfsTer10
ENST00000380707.8:c.734dup	ENSP00000370083.4:p.Pro246ThrfsTer10
ENST00000503079.6:c.638dup	ENSP00000428128.1:p.Pro214ThrfsTer10
ENST00000506163.5:c.734dup	ENSP00000424926.1:p.Pro246ThrfsTer10
ENST00000506239.6:c.734dup	ENSP00000422679.2:p.Pro246ThrfsTer10
ENST00000507905.6:c.428dup	ENSP00000430657.1:n.428dup
ENST00000513228.1:n.301dup
ENST00000514951.5:c.533dup	ENSP00000423298.1:p.Pro179ThrfsTer10
ENST00000518504.5:n.251dup
ENST00000625245.2:c.734dup	ENSP00000486539.1:p.Pro246ThrfsTer10
NM_000344.3:c.734dup , LRG_676t1:c.734dup	NP_000335.1:p.Pro246ThrfsTer10
NM_001297715.1:c.734dup	NP_001284644.1:p.Pro246ThrfsTer10
NM_022874.2:c.638dup	NP_075012.1:p.Pro214ThrfsTer10
XM_011543596.1:c.734dup	XP_011541898.1:p.Pro246ThrfsTer10
XM_011543597.1:c.533dup	XP_011541899.1:p.Pro179ThrfsTer10
XM_011543598.1:c.437dup	XP_011541900.1:p.Pro147ThrfsTer10
XM_011543598.3:c.437dup	XP_011541900.1:p.Pro147ThrfsTer10
XM_017009786.1:c.638dup	XP_016865275.1:p.Pro214ThrfsTer10
NM_000344.4:c.734dup MANE Select	NP_000335.1:p.Pro246ThrfsTer10