Canonical Allele Identifier: CA1554172334

Gene: SMN1

Linked Data

• dbSNP Id: rs1749547877

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70945941_70945943dup , CM000667.2:g.70945941_70945943dup	GRCh38
NC_000005.9:g.70241768_70241770dup , CM000667.1:g.70241768_70241770dup	GRCh37
NC_000005.8:g.70277524_70277526dup	NCBI36
NG_008691.1:g.26001_26003dup , LRG_676:g.26001_26003dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.724-125_724-123dup MANE Select	ENSP00000370083.4:n.724-125_724-123dup
ENST00000351205.8:c.724-125_724-123dup	ENSP00000305857.5:n.724-125_724-123dup
ENST00000380707.8:c.724-125_724-123dup	ENSP00000370083.4:n.724-125_724-123dup
ENST00000503079.6:c.628-125_628-123dup	ENSP00000428128.1:n.628-125_628-123dup
ENST00000506163.5:c.724-125_724-123dup	ENSP00000424926.1:n.724-125_724-123dup
ENST00000506239.6:c.724-125_724-123dup	ENSP00000422679.2:n.724-125_724-123dup
ENST00000507905.6:c.418-125_418-123dup	ENSP00000430657.1:n.418-125_418-123dup
ENST00000513228.1:n.291-125_291-123dup
ENST00000514951.5:c.523-125_523-123dup	ENSP00000423298.1:n.523-125_523-123dup
ENST00000518504.5:n.241-125_241-123dup
ENST00000625245.2:c.724-125_724-123dup	ENSP00000486539.1:n.724-125_724-123dup
NM_000344.3:c.724-125_724-123dup , LRG_676t1:c.724-125_724-123dup	NP_000335.1:n.724-125_724-123dup
NM_001297715.1:c.724-125_724-123dup	NP_001284644.1:n.724-125_724-123dup
NM_022874.2:c.628-125_628-123dup	NP_075012.1:n.628-125_628-123dup
XM_011543596.1:c.724-125_724-123dup	XP_011541898.1:n.724-125_724-123dup
XM_011543597.1:c.523-125_523-123dup	XP_011541899.1:n.523-125_523-123dup
XM_011543598.1:c.427-125_427-123dup	XP_011541900.1:n.427-125_427-123dup
XM_011543598.3:c.427-125_427-123dup	XP_011541900.1:n.427-125_427-123dup
XM_017009786.1:c.628-125_628-123dup	XP_016865275.1:n.628-125_628-123dup
NM_000344.4:c.724-125_724-123dup MANE Select	NP_000335.1:n.724-125_724-123dup