Canonical Allele Identifier: CA1139658877

Gene: SMN1

Linked Data

• ClinVar Variation Id: 984453
• ClinVar RCV Id: RCV001264429
• dbSNP Id: rs1749768312
• gnomAD v4: 5-70951922-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951922T>A , CM000667.2:g.70951922T>A	GRCh38
NC_000005.9:g.70247749T>A , CM000667.1:g.70247749T>A	GRCh37
NC_000005.8:g.70283505T>A	NCBI36
NG_008691.1:g.31982T>A , LRG_676:g.31982T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.835-19T>A MANE Select	ENSP00000370083.4:n.835-19T>A
ENST00000351205.8:c.835-19T>A	ENSP00000305857.5:n.835-19T>A
ENST00000380707.8:c.835-19T>A	ENSP00000370083.4:n.835-19T>A
ENST00000503079.6:c.739-19T>A	ENSP00000428128.1:n.739-19T>A
ENST00000506163.5:c.835-517T>A	ENSP00000424926.1:n.835-517T>A
ENST00000506239.6:c.*59-517T>A	ENSP00000422679.2:n.*59-517T>A
ENST00000510679.1:n.89-19T>A
ENST00000514951.5:c.634-19T>A	ENSP00000423298.1:n.634-19T>A
NM_000344.3:c.835-19T>A , LRG_676t1:c.835-19T>A	NP_000335.1:n.835-19T>A
NM_001297715.1:c.835-517T>A	NP_001284644.1:n.835-517T>A
NM_022874.2:c.739-19T>A	NP_075012.1:n.739-19T>A
XM_011543597.1:c.634-19T>A	XP_011541899.1:n.634-19T>A
XM_011543598.1:c.538-19T>A	XP_011541900.1:n.538-19T>A
XM_011543598.3:c.538-19T>A	XP_011541900.1:n.538-19T>A
XM_017009786.1:c.739-517T>A	XP_016865275.1:n.739-517T>A
NM_000344.4:c.835-19T>A MANE Select	NP_000335.1:n.835-19T>A