Canonical Allele Identifier: CA360098107

Gene: SMN1

Linked Data

• ClinVar Variation Id: 928622
• ClinVar RCV Id: RCV001192808
• dbSNP Id: rs76163360
• MyVariant Identifiers: chr5:g.70247769G>A (hg19) ; chr5:g.70951942G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951942G>A , CM000667.2:g.70951942G>A	GRCh38
NC_000005.9:g.70247769G>A , CM000667.1:g.70247769G>A	GRCh37
NC_000005.8:g.70283525G>A	NCBI36
NG_008691.1:g.32002G>A , LRG_676:g.32002G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.836G>A MANE Select	ENSP00000370083.4:p.Gly279Asp
ENST00000351205.8:c.836G>A	ENSP00000305857.5:p.Gly279Asp
ENST00000380707.8:c.836G>A	ENSP00000370083.4:p.Gly279Asp
ENST00000503079.6:c.740G>A	ENSP00000428128.1:p.Gly247Asp
ENST00000506163.5:c.835-497G>A	ENSP00000424926.1:n.835-497G>A
ENST00000506239.6:c.*59-497G>A	ENSP00000422679.2:n.*59-497G>A
ENST00000510679.1:n.90G>A
ENST00000514951.5:c.635G>A	ENSP00000423298.1:p.Gly212Asp
NM_000344.3:c.836G>A , LRG_676t1:c.836G>A	NP_000335.1:p.Gly279Asp
NM_001297715.1:c.835-497G>A	NP_001284644.1:n.835-497G>A
NM_022874.2:c.740G>A	NP_075012.1:p.Gly247Asp
XM_011543597.1:c.635G>A	XP_011541899.1:p.Gly212Asp
XM_011543598.1:c.539G>A	XP_011541900.1:p.Gly180Asp
XM_011543598.3:c.539G>A	XP_011541900.1:p.Gly180Asp
XM_017009786.1:c.739-497G>A	XP_016865275.1:n.739-497G>A
NM_000344.4:c.836G>A MANE Select	NP_000335.1:p.Gly279Asp