Canonical Allele Identifier: CA1554172349

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946107T= , CM000667.2:g.70946107T=	GRCh38
NC_000005.9:g.70241934T= , CM000667.1:g.70241934T=	GRCh37
NC_000005.8:g.70277690T=	NCBI36
NG_008691.1:g.26167T= , LRG_676:g.26167T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.765T= MANE Select	ENSP00000370083.4:p.Asp255=
ENST00000351205.8:c.765T=	ENSP00000305857.5:p.Asp255=
ENST00000380707.8:c.765T=	ENSP00000370083.4:p.Asp255=
ENST00000503079.6:c.669T=	ENSP00000428128.1:p.Asp223=
ENST00000506163.5:c.765T=	ENSP00000424926.1:p.Asp255=
ENST00000506239.6:c.765T=	ENSP00000422679.2:p.Asp255=
ENST00000510679.1:n.19T=
ENST00000513228.1:n.332T=
ENST00000514951.5:c.564T=	ENSP00000423298.1:p.Asp188=
ENST00000518504.5:n.282T=
ENST00000625245.2:c.765T=	ENSP00000486539.1:p.Asp255=
NM_000344.3:c.765T= , LRG_676t1:c.765T=	NP_000335.1:p.Asp255=
NM_001297715.1:c.765T=	NP_001284644.1:p.Asp255=
NM_022874.2:c.669T=	NP_075012.1:p.Asp223=
XM_011543596.1:c.765T=	XP_011541898.1:p.Asp255=
XM_011543597.1:c.564T=	XP_011541899.1:p.Asp188=
XM_011543598.1:c.468T=	XP_011541900.1:p.Asp156=
XM_011543598.3:c.468T=	XP_011541900.1:p.Asp156=
XM_017009786.1:c.669T=	XP_016865275.1:p.Asp223=
NM_000344.4:c.765T= MANE Select	NP_000335.1:p.Asp255=