Canonical Allele Identifier: CA1554174115

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951942G= , CM000667.2:g.70951942G=	GRCh38
NC_000005.9:g.70247769G= , CM000667.1:g.70247769G=	GRCh37
NC_000005.8:g.70283525G=	NCBI36
NG_008691.1:g.32002G= , LRG_676:g.32002G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.836G= MANE Select	ENSP00000370083.4:p.Gly279=
ENST00000351205.8:c.836G=	ENSP00000305857.5:p.Gly279=
ENST00000380707.8:c.836G=	ENSP00000370083.4:p.Gly279=
ENST00000503079.6:c.740G=	ENSP00000428128.1:p.Gly247=
ENST00000506163.5:c.835-497G=	ENSP00000424926.1:n.835-497G=
ENST00000506239.6:c.*59-497G=	ENSP00000422679.2:n.*59-497G=
ENST00000510679.1:n.90G=
ENST00000514951.5:c.635G=	ENSP00000423298.1:p.Gly212=
NM_000344.3:c.836G= , LRG_676t1:c.836G=	NP_000335.1:p.Gly279=
NM_001297715.1:c.835-497G=	NP_001284644.1:n.835-497G=
NM_022874.2:c.740G=	NP_075012.1:p.Gly247=
XM_011543597.1:c.635G=	XP_011541899.1:p.Gly212=
XM_011543598.1:c.539G=	XP_011541900.1:p.Gly180=
XM_011543598.3:c.539G=	XP_011541900.1:p.Gly180=
XM_017009786.1:c.739-497G=	XP_016865275.1:n.739-497G=
NM_000344.4:c.836G= MANE Select	NP_000335.1:p.Gly279=