Canonical Allele Identifier: CA360096500

Gene: SMN1

Linked Data

• MyVariant Identifiers: chr5:g.70241894T>A (hg19) ; chr5:g.70946067T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946067T>A , CM000667.2:g.70946067T>A	GRCh38
NC_000005.9:g.70241894T>A , CM000667.1:g.70241894T>A	GRCh37
NC_000005.8:g.70277650T>A	NCBI36
NG_008691.1:g.26127T>A , LRG_676:g.26127T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.725T>A MANE Select	ENSP00000370083.4:p.Ile242Lys
ENST00000351205.8:c.725T>A	ENSP00000305857.5:p.Ile242Lys
ENST00000380707.8:c.725T>A	ENSP00000370083.4:p.Ile242Lys
ENST00000503079.6:c.629T>A	ENSP00000428128.1:p.Ile210Lys
ENST00000506163.5:c.725T>A	ENSP00000424926.1:p.Ile242Lys
ENST00000506239.6:c.725T>A	ENSP00000422679.2:p.Ile242Lys
ENST00000507905.6:c.419T>A	ENSP00000430657.1:n.419T>A
ENST00000513228.1:n.292T>A
ENST00000514951.5:c.524T>A	ENSP00000423298.1:p.Ile175Lys
ENST00000518504.5:n.242T>A
ENST00000625245.2:c.725T>A	ENSP00000486539.1:p.Ile242Lys
NM_000344.3:c.725T>A , LRG_676t1:c.725T>A	NP_000335.1:p.Ile242Lys
NM_001297715.1:c.725T>A	NP_001284644.1:p.Ile242Lys
NM_022874.2:c.629T>A	NP_075012.1:p.Ile210Lys
XM_011543596.1:c.725T>A	XP_011541898.1:p.Ile242Lys
XM_011543597.1:c.524T>A	XP_011541899.1:p.Ile175Lys
XM_011543598.1:c.428T>A	XP_011541900.1:p.Ile143Lys
XM_011543598.3:c.428T>A	XP_011541900.1:p.Ile143Lys
XM_017009786.1:c.629T>A	XP_016865275.1:p.Ile210Lys
NM_000344.4:c.725T>A MANE Select	NP_000335.1:p.Ile242Lys