Canonical Allele Identifier: CA254694
Gene: SMN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 9178
ClinVar RCV Id: RCV000009756
dbSNP Id: rs104893932

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.70946126A>G , CM000667.2:g.70946126A>G GRCh38
NC_000005.9:g.70241953A>G , CM000667.1:g.70241953A>G GRCh37
NC_000005.8:g.70277709A>G NCBI36
NG_008691.1:g.26186A>G , LRG_676:g.26186A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000380707.9:c.784A>G MANE Select ENSP00000370083.4:p.Ser262Gly
ENST00000351205.8:n.784A>G ENSP00000305857.5:p.Ser262Gly
ENST00000380707.8:c.784A>G ENSP00000370083.4:p.Ser262Gly
ENST00000503079.6:c.688A>G ENSP00000428128.1:p.Ser230Gly
ENST00000506163.5:c.784A>G ENSP00000424926.1:p.Ser262Gly
ENST00000506239.6:c.784A>G ENSP00000422679.2:p.Ser262Gly
ENST00000510679.1:n.38A>G
ENST00000513228.1:n.351A>G
ENST00000514951.5:c.583A>G ENSP00000423298.1:p.Ser195Gly
ENST00000518504.5:n.301A>G
ENST00000625245.2:n.784A>G ENSP00000486539.1:p.Ser262Gly
NM_000344.3:c.784A>G , LRG_676t1:c.784A>G NP_000335.1:p.Ser262Gly
NM_001297715.1:c.784A>G NP_001284644.1:p.Ser262Gly
NM_022874.2:c.688A>G NP_075012.1:p.Ser230Gly
XM_011543596.1:c.784A>G XP_011541898.1:p.Ser262Gly
XM_011543597.1:c.583A>G XP_011541899.1:p.Ser195Gly
XM_011543598.1:c.487A>G XP_011541900.1:p.Ser163Gly
XM_011543598.3:c.487A>G XP_011541900.1:p.Ser163Gly
XM_017009786.1:c.688A>G XP_016865275.1:p.Ser230Gly
NM_000344.4:c.784A>G MANE Select NP_000335.1:p.Ser262Gly