Canonical Allele Identifier: CA1554174119

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951947A= , CM000667.2:g.70951947A=	GRCh38
NC_000005.9:g.70247774A= , CM000667.1:g.70247774A=	GRCh37
NC_000005.8:g.70283530A=	NCBI36
NG_008691.1:g.32007A= , LRG_676:g.32007A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.841A= MANE Select	ENSP00000370083.4:p.Arg281=
ENST00000351205.8:c.841A=	ENSP00000305857.5:p.Arg281=
ENST00000380707.8:c.841A=	ENSP00000370083.4:p.Arg281=
ENST00000503079.6:c.745A=	ENSP00000428128.1:p.Arg249=
ENST00000506163.5:c.835-492A=	ENSP00000424926.1:n.835-492A=
ENST00000506239.6:c.*59-492A=	ENSP00000422679.2:n.*59-492A=
ENST00000510679.1:n.95A=
ENST00000514951.5:c.640A=	ENSP00000423298.1:p.Arg214=
NM_000344.3:c.841A= , LRG_676t1:c.841A=	NP_000335.1:p.Arg281=
NM_001297715.1:c.835-492A=	NP_001284644.1:n.835-492A=
NM_022874.2:c.745A=	NP_075012.1:p.Arg249=
XM_011543597.1:c.640A=	XP_011541899.1:p.Arg214=
XM_011543598.1:c.544A=	XP_011541900.1:p.Arg182=
XM_011543598.3:c.544A=	XP_011541900.1:p.Arg182=
XM_017009786.1:c.739-492A=	XP_016865275.1:n.739-492A=
NM_000344.4:c.841A= MANE Select	NP_000335.1:p.Arg281=