Canonical Allele Identifier: CA120725341

Gene: SMN1

Linked Data

• dbSNP Id: rs1055846766
• gnomAD v2: 5-70247652-A-G
• gnomAD v3: 5-70951825-A-G
• gnomAD v4: 5-70951825-A-G
• MyVariant Identifiers: chr5:g.70247652A>G (hg19) ; chr5:g.70951825A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951825A>G , CM000667.2:g.70951825A>G	GRCh38
NC_000005.9:g.70247652A>G , CM000667.1:g.70247652A>G	GRCh37
NC_000005.8:g.70283408A>G	NCBI36
NG_008691.1:g.31885A>G , LRG_676:g.31885A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.835-116A>G MANE Select	ENSP00000370083.4:n.835-116A>G
ENST00000351205.8:c.835-116A>G	ENSP00000305857.5:n.835-116A>G
ENST00000380707.8:c.835-116A>G	ENSP00000370083.4:n.835-116A>G
ENST00000503079.6:c.739-116A>G	ENSP00000428128.1:n.739-116A>G
ENST00000506163.5:c.835-614A>G	ENSP00000424926.1:n.835-614A>G
ENST00000506239.6:c.*59-614A>G	ENSP00000422679.2:n.*59-614A>G
ENST00000510679.1:n.89-116A>G
ENST00000514951.5:c.634-116A>G	ENSP00000423298.1:n.634-116A>G
NM_000344.3:c.835-116A>G , LRG_676t1:c.835-116A>G	NP_000335.1:n.835-116A>G
NM_001297715.1:c.835-614A>G	NP_001284644.1:n.835-614A>G
NM_022874.2:c.739-116A>G	NP_075012.1:n.739-116A>G
XM_011543597.1:c.634-116A>G	XP_011541899.1:n.634-116A>G
XM_011543598.1:c.538-116A>G	XP_011541900.1:n.538-116A>G
XM_011543598.3:c.538-116A>G	XP_011541900.1:n.538-116A>G
XM_017009786.1:c.739-614A>G	XP_016865275.1:n.739-614A>G
NM_000344.4:c.835-116A>G MANE Select	NP_000335.1:n.835-116A>G