Canonical Allele Identifier: CA360096506

Gene: SMN1

Linked Data

• MyVariant Identifiers: chr5:g.70241895A>G (hg19) ; chr5:g.70946068A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946068A>G , CM000667.2:g.70946068A>G	GRCh38
NC_000005.9:g.70241895A>G , CM000667.1:g.70241895A>G	GRCh37
NC_000005.8:g.70277651A>G	NCBI36
NG_008691.1:g.26128A>G , LRG_676:g.26128A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.726A>G MANE Select	ENSP00000370083.4:p.Ile242Met
ENST00000351205.8:c.726A>G	ENSP00000305857.5:p.Ile242Met
ENST00000380707.8:c.726A>G	ENSP00000370083.4:p.Ile242Met
ENST00000503079.6:c.630A>G	ENSP00000428128.1:p.Ile210Met
ENST00000506163.5:c.726A>G	ENSP00000424926.1:p.Ile242Met
ENST00000506239.6:c.726A>G	ENSP00000422679.2:p.Ile242Met
ENST00000507905.6:c.420A>G	ENSP00000430657.1:n.420A>G
ENST00000513228.1:n.293A>G
ENST00000514951.5:c.525A>G	ENSP00000423298.1:p.Ile175Met
ENST00000518504.5:n.243A>G
ENST00000625245.2:c.726A>G	ENSP00000486539.1:p.Ile242Met
NM_000344.3:c.726A>G , LRG_676t1:c.726A>G	NP_000335.1:p.Ile242Met
NM_001297715.1:c.726A>G	NP_001284644.1:p.Ile242Met
NM_022874.2:c.630A>G	NP_075012.1:p.Ile210Met
XM_011543596.1:c.726A>G	XP_011541898.1:p.Ile242Met
XM_011543597.1:c.525A>G	XP_011541899.1:p.Ile175Met
XM_011543598.1:c.429A>G	XP_011541900.1:p.Ile143Met
XM_011543598.3:c.429A>G	XP_011541900.1:p.Ile143Met
XM_017009786.1:c.630A>G	XP_016865275.1:p.Ile210Met
NM_000344.4:c.726A>G MANE Select	NP_000335.1:p.Ile242Met