Canonical Allele Identifier: CA1554172348

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946087A= , CM000667.2:g.70946087A=	GRCh38
NC_000005.9:g.70241914A= , CM000667.1:g.70241914A=	GRCh37
NC_000005.8:g.70277670A=	NCBI36
NG_008691.1:g.26147A= , LRG_676:g.26147A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.745A= MANE Select	ENSP00000370083.4:p.Ile249=
ENST00000351205.8:c.745A=	ENSP00000305857.5:p.Ile249=
ENST00000380707.8:c.745A=	ENSP00000370083.4:p.Ile249=
ENST00000503079.6:c.649A=	ENSP00000428128.1:p.Ile217=
ENST00000506163.5:c.745A=	ENSP00000424926.1:p.Ile249=
ENST00000506239.6:c.745A=	ENSP00000422679.2:p.Ile249=
ENST00000513228.1:n.312A=
ENST00000514951.5:c.544A=	ENSP00000423298.1:p.Ile182=
ENST00000518504.5:n.262A=
ENST00000625245.2:c.745A=	ENSP00000486539.1:p.Ile249=
NM_000344.3:c.745A= , LRG_676t1:c.745A=	NP_000335.1:p.Ile249=
NM_001297715.1:c.745A=	NP_001284644.1:p.Ile249=
NM_022874.2:c.649A=	NP_075012.1:p.Ile217=
XM_011543596.1:c.745A=	XP_011541898.1:p.Ile249=
XM_011543597.1:c.544A=	XP_011541899.1:p.Ile182=
XM_011543598.1:c.448A=	XP_011541900.1:p.Ile150=
XM_011543598.3:c.448A=	XP_011541900.1:p.Ile150=
XM_017009786.1:c.649A=	XP_016865275.1:p.Ile217=
NM_000344.4:c.745A= MANE Select	NP_000335.1:p.Ile249=