Canonical Allele Identifier: CA360097300

Gene: SMN1

Linked Data

• ClinVar Variation Id: 634934
• ClinVar RCV Id: RCV000785799
• dbSNP Id: rs1561500920
• MyVariant Identifiers: chr5:g.70241993G>A (hg19) ; chr5:g.70946166G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946166G>A , CM000667.2:g.70946166G>A	GRCh38
NC_000005.9:g.70241993G>A , CM000667.1:g.70241993G>A	GRCh37
NC_000005.8:g.70277749G>A	NCBI36
NG_008691.1:g.26226G>A , LRG_676:g.26226G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.824G>A MANE Select	ENSP00000370083.4:p.Gly275Asp
ENST00000351205.8:c.824G>A	ENSP00000305857.5:p.Gly275Asp
ENST00000380707.8:c.824G>A	ENSP00000370083.4:p.Gly275Asp
ENST00000503079.6:c.728G>A	ENSP00000428128.1:p.Gly243Asp
ENST00000506163.5:c.824G>A	ENSP00000424926.1:p.Gly275Asp
ENST00000506239.6:c.824G>A	ENSP00000422679.2:p.Gly275Asp
ENST00000510679.1:n.78G>A
ENST00000513228.1:n.391G>A
ENST00000514951.5:c.623G>A	ENSP00000423298.1:p.Gly208Asp
ENST00000518504.5:n.341G>A
ENST00000625245.2:c.824G>A	ENSP00000486539.1:p.Gly275Asp
NM_000344.3:c.824G>A , LRG_676t1:c.824G>A	NP_000335.1:p.Gly275Asp
NM_001297715.1:c.824G>A	NP_001284644.1:p.Gly275Asp
NM_022874.2:c.728G>A	NP_075012.1:p.Gly243Asp
XM_011543596.1:c.824G>A	XP_011541898.1:p.Gly275Asp
XM_011543597.1:c.623G>A	XP_011541899.1:p.Gly208Asp
XM_011543598.1:c.527G>A	XP_011541900.1:p.Gly176Asp
XM_011543598.3:c.527G>A	XP_011541900.1:p.Gly176Asp
XM_017009786.1:c.728G>A	XP_016865275.1:p.Gly243Asp
NM_000344.4:c.824G>A MANE Select	NP_000335.1:p.Gly275Asp