Canonical Allele Identifier: CA2831387913

Gene: SMN1

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70945875C>G , CM000667.2:g.70945875C>G	GRCh38
NC_000005.9:g.70241702C>G , CM000667.1:g.70241702C>G	GRCh37
NC_000005.8:g.70277458C>G	NCBI36
NG_008691.1:g.25935C>G , LRG_676:g.25935C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.724-191C>G MANE Select	ENSP00000370083.4:n.724-191C>G
ENST00000351205.8:c.724-191C>G	ENSP00000305857.5:n.724-191C>G
ENST00000380707.8:c.724-191C>G	ENSP00000370083.4:n.724-191C>G
ENST00000503079.6:c.628-191C>G	ENSP00000428128.1:n.628-191C>G
ENST00000506163.5:c.724-191C>G	ENSP00000424926.1:n.724-191C>G
ENST00000506239.6:c.724-191C>G	ENSP00000422679.2:n.724-191C>G
ENST00000507905.6:c.418-191C>G	ENSP00000430657.1:n.418-191C>G
ENST00000513228.1:n.291-191C>G
ENST00000514951.5:c.523-191C>G	ENSP00000423298.1:n.523-191C>G
ENST00000518504.5:n.241-191C>G
ENST00000625245.2:c.724-191C>G	ENSP00000486539.1:n.724-191C>G
NM_000344.3:c.724-191C>G , LRG_676t1:c.724-191C>G	NP_000335.1:n.724-191C>G
NM_001297715.1:c.724-191C>G	NP_001284644.1:n.724-191C>G
NM_022874.2:c.628-191C>G	NP_075012.1:n.628-191C>G
XM_011543596.1:c.724-191C>G	XP_011541898.1:n.724-191C>G
XM_011543597.1:c.523-191C>G	XP_011541899.1:n.523-191C>G
XM_011543598.1:c.427-191C>G	XP_011541900.1:n.427-191C>G
XM_011543598.3:c.427-191C>G	XP_011541900.1:n.427-191C>G
XM_017009786.1:c.628-191C>G	XP_016865275.1:n.628-191C>G
NM_000344.4:c.724-191C>G MANE Select	NP_000335.1:n.724-191C>G