Canonical Allele Identifier: CA1554171489

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70942389G= , CM000667.2:g.70942389G=	GRCh38
NC_000005.9:g.70238216G= , CM000667.1:g.70238216G=	GRCh37
NC_000005.8:g.70273972G=	NCBI36
NG_008691.1:g.22449G= , LRG_676:g.22449G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000344.4:c.305G= MANE Select	NP_000335.1:p.Trp102=
ENST00000380707.9:c.305G= MANE Select	ENSP00000370083.4:p.Trp102=
NM_000344.3:c.305G= , LRG_676t1:c.305G=	NP_000335.1:p.Trp102=
NM_001297715.1:c.305G=	NP_001284644.1:p.Trp102=
NM_022874.2:c.305G=	NP_075012.1:p.Trp102=
ENST00000351205.8:c.305G=	ENSP00000305857.5:p.Trp102=
ENST00000380707.8:c.305G=	ENSP00000370083.4:p.Trp102=
ENST00000503079.6:c.305G=	ENSP00000428128.1:p.Trp102=
ENST00000506163.5:c.305G=	ENSP00000424926.1:p.Trp102=
ENST00000506239.6:c.305G=	ENSP00000422679.2:p.Trp102=
ENST00000514951.5:c.274-329G=	ENSP00000423298.1:n.274-329G=
ENST00000625245.2:c.305G=	ENSP00000486539.1:p.Trp102=
XM_011543596.1:c.305G=	XP_011541898.1:p.Trp102=
XM_011543597.1:c.274-329G=	XP_011541899.1:n.274-329G=
XM_011543598.1:c.274-329G=	XP_011541900.1:n.274-329G=
XM_011543598.3:c.274-329G=	XP_011541900.1:n.274-329G=
XM_017009786.1:c.305G=	XP_016865275.1:p.Trp102=