Canonical Allele Identifier: CA2695204559

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946082dup , CM000667.2:g.70946082dup	GRCh38
NC_000005.9:g.70241909dup , CM000667.1:g.70241909dup	GRCh37
NC_000005.8:g.70277665dup	NCBI36
NG_008691.1:g.26142dup , LRG_676:g.26142dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.740dup MANE Select	ENSP00000370083.4:p.Pro248SerfsTer8
ENST00000351205.8:c.740dup	ENSP00000305857.5:p.Pro248SerfsTer8
ENST00000380707.8:c.740dup	ENSP00000370083.4:p.Pro248SerfsTer8
ENST00000503079.6:c.644dup	ENSP00000428128.1:p.Pro216SerfsTer8
ENST00000506163.5:c.740dup	ENSP00000424926.1:p.Pro248SerfsTer8
ENST00000506239.6:c.740dup	ENSP00000422679.2:p.Pro248SerfsTer8
ENST00000513228.1:n.307dup
ENST00000514951.5:c.539dup	ENSP00000423298.1:p.Pro181SerfsTer8
ENST00000518504.5:n.257dup
ENST00000625245.2:c.740dup	ENSP00000486539.1:p.Pro248SerfsTer8
NM_000344.3:c.740dup , LRG_676t1:c.740dup	NP_000335.1:p.Pro248SerfsTer8
NM_001297715.1:c.740dup	NP_001284644.1:p.Pro248SerfsTer8
NM_022874.2:c.644dup	NP_075012.1:p.Pro216SerfsTer8
XM_011543596.1:c.740dup	XP_011541898.1:p.Pro248SerfsTer8
XM_011543597.1:c.539dup	XP_011541899.1:p.Pro181SerfsTer8
XM_011543598.1:c.443dup	XP_011541900.1:p.Pro149SerfsTer8
XM_011543598.3:c.443dup	XP_011541900.1:p.Pro149SerfsTer8
XM_017009786.1:c.644dup	XP_016865275.1:p.Pro216SerfsTer8
NM_000344.4:c.740dup MANE Select	NP_000335.1:p.Pro248SerfsTer8