Canonical Allele Identifier: CA2674135244

Gene: SMN1

Linked Data

• gnomAD v4: 5-70951942-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951945dup , CM000667.2:g.70951945dup	GRCh38
NC_000005.9:g.70247772dup , CM000667.1:g.70247772dup	GRCh37
NC_000005.8:g.70283528dup	NCBI36
NG_008691.1:g.32005dup , LRG_676:g.32005dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.839dup MANE Select	ENSP00000370083.4:p.Arg281GlnfsTer25
ENST00000351205.8:c.839dup	ENSP00000305857.5:p.Arg281GlnfsTer?
ENST00000380707.8:c.839dup	ENSP00000370083.4:p.Arg281GlnfsTer25
ENST00000503079.6:c.743dup	ENSP00000428128.1:p.Arg249GlnfsTer?
ENST00000506163.5:c.835-494dup	ENSP00000424926.1:n.835-494dup
ENST00000506239.6:c.*59-494dup	ENSP00000422679.2:n.*59-494dup
ENST00000510679.1:n.93dup
ENST00000514951.5:c.638dup	ENSP00000423298.1:p.Arg214GlnfsTer?
NM_000344.3:c.839dup , LRG_676t1:c.839dup	NP_000335.1:p.Arg281GlnfsTer25
NM_001297715.1:c.835-494dup	NP_001284644.1:n.835-494dup
NM_022874.2:c.743dup	NP_075012.1:p.Arg249GlnfsTer25
XM_011543597.1:c.638dup	XP_011541899.1:p.Arg214GlnfsTer25
XM_011543598.1:c.542dup	XP_011541900.1:p.Arg182GlnfsTer25
XM_011543598.3:c.542dup	XP_011541900.1:p.Arg182GlnfsTer25
XM_017009786.1:c.739-494dup	XP_016865275.1:n.739-494dup
NM_000344.4:c.839dup MANE Select	NP_000335.1:p.Arg281GlnfsTer25