Canonical Allele Identifier: CA891843195

Gene: SMN1

Linked Data

• ClinVar Variation Id: 586627
• ClinVar RCV Id: RCV000713372 ; RCV000785794
• dbSNP Id: rs1561500847
• MyVariant Identifiers: chr5:g.70241939_70241949dup (hg19) ; chr5:g.70946112_70946122dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946112_70946122dup , CM000667.2:g.70946112_70946122dup	GRCh38
NC_000005.9:g.70241939_70241949dup , CM000667.1:g.70241939_70241949dup	GRCh37
NC_000005.8:g.70277695_70277705dup	NCBI36
NG_008691.1:g.26172_26182dup , LRG_676:g.26172_26182dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.770_780dup MANE Select	ENSP00000370083.4:p.Gly261LeufsTer8
ENST00000351205.8:c.770_780dup	ENSP00000305857.5:p.Gly261LeufsTer8
ENST00000380707.8:c.770_780dup	ENSP00000370083.4:p.Gly261LeufsTer8
ENST00000503079.6:c.674_684dup	ENSP00000428128.1:p.Gly229LeufsTer8
ENST00000506163.5:c.770_780dup	ENSP00000424926.1:p.Gly261LeufsTer8
ENST00000506239.6:c.770_780dup	ENSP00000422679.2:p.Gly261LeufsTer8
ENST00000510679.1:n.24_34dup
ENST00000513228.1:n.337_347dup
ENST00000514951.5:c.569_579dup	ENSP00000423298.1:p.Gly194LeufsTer8
ENST00000518504.5:n.287_297dup
ENST00000625245.2:c.770_780dup	ENSP00000486539.1:p.Gly261LeufsTer8
NM_000344.3:c.770_780dup , LRG_676t1:c.770_780dup	NP_000335.1:p.Gly261LeufsTer8
NM_001297715.1:c.770_780dup	NP_001284644.1:p.Gly261LeufsTer8
NM_022874.2:c.674_684dup	NP_075012.1:p.Gly229LeufsTer8
XM_011543596.1:c.770_780dup	XP_011541898.1:p.Gly261LeufsTer8
XM_011543597.1:c.569_579dup	XP_011541899.1:p.Gly194LeufsTer8
XM_011543598.1:c.473_483dup	XP_011541900.1:p.Gly162LeufsTer8
XM_011543598.3:c.473_483dup	XP_011541900.1:p.Gly162LeufsTer8
XM_017009786.1:c.674_684dup	XP_016865275.1:p.Gly229LeufsTer8
NM_000344.4:c.770_780dup MANE Select	NP_000335.1:p.Gly261LeufsTer8