Canonical Allele Identifier: CA1139658878

Gene: SMN1

Linked Data

• ClinVar Variation Id: 928627
• ClinVar RCV Id: RCV001192813
• dbSNP Id: rs1749768663

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951924C>G , CM000667.2:g.70951924C>G	GRCh38
NC_000005.9:g.70247751C>G , CM000667.1:g.70247751C>G	GRCh37
NC_000005.8:g.70283507C>G	NCBI36
NG_008691.1:g.31984C>G , LRG_676:g.31984C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.835-17C>G MANE Select	ENSP00000370083.4:n.835-17C>G
ENST00000351205.8:c.835-17C>G	ENSP00000305857.5:n.835-17C>G
ENST00000380707.8:c.835-17C>G	ENSP00000370083.4:n.835-17C>G
ENST00000503079.6:c.739-17C>G	ENSP00000428128.1:n.739-17C>G
ENST00000506163.5:c.835-515C>G	ENSP00000424926.1:n.835-515C>G
ENST00000506239.6:c.*59-515C>G	ENSP00000422679.2:n.*59-515C>G
ENST00000510679.1:n.89-17C>G
ENST00000514951.5:c.634-17C>G	ENSP00000423298.1:n.634-17C>G
NM_000344.3:c.835-17C>G , LRG_676t1:c.835-17C>G	NP_000335.1:n.835-17C>G
NM_001297715.1:c.835-515C>G	NP_001284644.1:n.835-515C>G
NM_022874.2:c.739-17C>G	NP_075012.1:n.739-17C>G
XM_011543597.1:c.634-17C>G	XP_011541899.1:n.634-17C>G
XM_011543598.1:c.538-17C>G	XP_011541900.1:n.538-17C>G
XM_011543598.3:c.538-17C>G	XP_011541900.1:n.538-17C>G
XM_017009786.1:c.739-515C>G	XP_016865275.1:n.739-515C>G
NM_000344.4:c.835-17C>G MANE Select	NP_000335.1:n.835-17C>G