Canonical Allele Identifier: CA658683392

Gene: SMN1

Linked Data

• ClinVar Variation Id: 495832
• ClinVar RCV Id: RCV000586101
• dbSNP Id: rs1554082383
• MyVariant Identifiers: chr5:g.70247788dup (hg19) ; chr5:g.70951961dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951961dup , CM000667.2:g.70951961dup	GRCh38
NC_000005.9:g.70247788dup , CM000667.1:g.70247788dup	GRCh37
NC_000005.8:g.70283544dup	NCBI36
NG_008691.1:g.32021dup , LRG_676:g.32021dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.855dup MANE Select	ENSP00000370083.4:p.Glu286ArgfsTer20
ENST00000351205.8:c.855dup	ENSP00000305857.5:p.Glu286ArgfsTer?
ENST00000380707.8:c.855dup	ENSP00000370083.4:p.Glu286ArgfsTer20
ENST00000503079.6:c.759dup	ENSP00000428128.1:p.Glu254ArgfsTer?
ENST00000506163.5:c.835-478dup	ENSP00000424926.1:n.835-478dup
ENST00000506239.6:c.*59-478dup	ENSP00000422679.2:n.*59-478dup
ENST00000510679.1:n.109dup
ENST00000514951.5:c.654dup	ENSP00000423298.1:p.Glu219ArgfsTer?
NM_000344.3:c.855dup , LRG_676t1:c.855dup	NP_000335.1:p.Glu286ArgfsTer20
NM_001297715.1:c.835-478dup	NP_001284644.1:n.835-478dup
NM_022874.2:c.759dup	NP_075012.1:p.Glu254ArgfsTer20
XM_011543597.1:c.654dup	XP_011541899.1:p.Glu219ArgfsTer20
XM_011543598.1:c.558dup	XP_011541900.1:p.Glu187ArgfsTer20
XM_011543598.3:c.558dup	XP_011541900.1:p.Glu187ArgfsTer20
XM_017009786.1:c.739-478dup	XP_016865275.1:n.739-478dup
NM_000344.4:c.855dup MANE Select	NP_000335.1:p.Glu286ArgfsTer20