Canonical Allele Identifier: CA3295115

Gene: SMN1

Linked Data

• ClinVar Variation Id: 495830
• ClinVar RCV Id: RCV000588233
• dbSNP Id: rs200146682
• ExAC: 5:70247760 C / A
• gnomAD v2: 5-70247760-C-A
• gnomAD v3: 5-70951933-C-A
• gnomAD v4: 5-70951933-C-A
• MyVariant Identifiers: chr5:g.70247760C>A (hg19) ; chr5:g.70951933C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951933C>A , CM000667.2:g.70951933C>A	GRCh38
NC_000005.9:g.70247760C>A , CM000667.1:g.70247760C>A	GRCh37
NC_000005.8:g.70283516C>A	NCBI36
NG_008691.1:g.31993C>A , LRG_676:g.31993C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.835-8C>A MANE Select	ENSP00000370083.4:n.835-8C>A
ENST00000351205.8:c.835-8C>A	ENSP00000305857.5:n.835-8C>A
ENST00000380707.8:c.835-8C>A	ENSP00000370083.4:n.835-8C>A
ENST00000503079.6:c.739-8C>A	ENSP00000428128.1:n.739-8C>A
ENST00000506163.5:c.835-506C>A	ENSP00000424926.1:n.835-506C>A
ENST00000506239.6:c.*59-506C>A	ENSP00000422679.2:n.*59-506C>A
ENST00000510679.1:n.89-8C>A
ENST00000514951.5:c.634-8C>A	ENSP00000423298.1:n.634-8C>A
NM_000344.3:c.835-8C>A , LRG_676t1:c.835-8C>A	NP_000335.1:n.835-8C>A
NM_001297715.1:c.835-506C>A	NP_001284644.1:n.835-506C>A
NM_022874.2:c.739-8C>A	NP_075012.1:n.739-8C>A
XM_011543597.1:c.634-8C>A	XP_011541899.1:n.634-8C>A
XM_011543598.1:c.538-8C>A	XP_011541900.1:n.538-8C>A
XM_011543598.3:c.538-8C>A	XP_011541900.1:n.538-8C>A
XM_017009786.1:c.739-506C>A	XP_016865275.1:n.739-506C>A
NM_000344.4:c.835-8C>A MANE Select	NP_000335.1:n.835-8C>A