Canonical Allele Identifier: CA360096481

Gene: SMN1

Linked Data

• ClinVar Variation Id: 634942
• ClinVar RCV Id: RCV000785811
• dbSNP Id: rs1561500842
• MyVariant Identifiers: chr5:g.70241891A>G (hg19) ; chr5:g.70946064A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946064A>G , CM000667.2:g.70946064A>G	GRCh38
NC_000005.9:g.70241891A>G , CM000667.1:g.70241891A>G	GRCh37
NC_000005.8:g.70277647A>G	NCBI36
NG_008691.1:g.26124A>G , LRG_676:g.26124A>G

Transcript Alleles

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