Canonical Allele Identifier: CA1554172088

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70944713T= , CM000667.2:g.70944713T=	GRCh38
NC_000005.9:g.70240540T= , CM000667.1:g.70240540T=	GRCh37
NC_000005.8:g.70276296T=	NCBI36
NG_008691.1:g.24773T= , LRG_676:g.24773T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000344.4:c.683T= MANE Select	NP_000335.1:p.Leu228=
ENST00000380707.9:c.683T= MANE Select	ENSP00000370083.4:p.Leu228=
NM_000344.3:c.683T= , LRG_676t1:c.683T=	NP_000335.1:p.Leu228=
NM_001297715.1:c.683T=	NP_001284644.1:p.Leu228=
NM_022874.2:c.628-1353T=	NP_075012.1:n.628-1353T=
ENST00000351205.8:c.683T=	ENSP00000305857.5:p.Leu228=
ENST00000380707.8:c.683T=	ENSP00000370083.4:p.Leu228=
ENST00000503079.6:c.628-1353T=	ENSP00000428128.1:n.628-1353T=
ENST00000506163.5:c.683T=	ENSP00000424926.1:p.Leu228=
ENST00000506239.6:c.683T=	ENSP00000422679.2:p.Leu228=
ENST00000507905.6:c.377T=	ENSP00000430657.1:n.377T=
ENST00000513228.1:n.250T=
ENST00000514951.5:c.482T=	ENSP00000423298.1:p.Leu161=
ENST00000518504.5:n.241-1353T=
ENST00000625245.2:c.683T=	ENSP00000486539.1:p.Leu228=
XM_011543596.1:c.683T=	XP_011541898.1:p.Leu228=
XM_011543597.1:c.482T=	XP_011541899.1:p.Leu161=
XM_011543598.1:c.427-1353T=	XP_011541900.1:n.427-1353T=
XM_011543598.3:c.427-1353T=	XP_011541900.1:n.427-1353T=
XM_017009786.1:c.628-1353T=	XP_016865275.1:n.628-1353T=