Canonical Allele Identifier: CA360098126

Gene: SMN1

Linked Data

• MyVariant Identifiers: chr5:g.70247772T>A (hg19) ; chr5:g.70951945T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.839T>A MANE Select	ENSP00000370083.4:p.Phe280Tyr
ENST00000351205.8:c.839T>A	ENSP00000305857.5:p.Phe280Tyr
ENST00000380707.8:c.839T>A	ENSP00000370083.4:p.Phe280Tyr
ENST00000503079.6:c.743T>A	ENSP00000428128.1:p.Phe248Tyr
ENST00000506163.5:c.835-494T>A	ENSP00000424926.1:n.835-494T>A
ENST00000506239.6:c.*59-494T>A	ENSP00000422679.2:n.*59-494T>A
ENST00000510679.1:n.93T>A
ENST00000514951.5:c.638T>A	ENSP00000423298.1:p.Phe213Tyr
NM_000344.3:c.839T>A , LRG_676t1:c.839T>A	NP_000335.1:p.Phe280Tyr
NM_001297715.1:c.835-494T>A	NP_001284644.1:n.835-494T>A
NM_022874.2:c.743T>A	NP_075012.1:p.Phe248Tyr
XM_011543597.1:c.638T>A	XP_011541899.1:p.Phe213Tyr
XM_011543598.1:c.542T>A	XP_011541900.1:p.Phe181Tyr
XM_011543598.3:c.542T>A	XP_011541900.1:p.Phe181Tyr
XM_017009786.1:c.739-494T>A	XP_016865275.1:n.739-494T>A
NM_000344.4:c.839T>A MANE Select	NP_000335.1:p.Phe280Tyr