Canonical Allele Identifier: CA360098188

Gene: SMN1

Linked Data

• MyVariant Identifiers: chr5:g.70247779A>C (hg19) ; chr5:g.70951952A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70951952A>C , CM000667.2:g.70951952A>C	GRCh38
NC_000005.9:g.70247779A>C , CM000667.1:g.70247779A>C	GRCh37
NC_000005.8:g.70283535A>C	NCBI36
NG_008691.1:g.32012A>C , LRG_676:g.32012A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000380707.9:c.846A>C MANE Select	ENSP00000370083.4:p.Gln282His
ENST00000351205.8:c.846A>C	ENSP00000305857.5:p.Gln282His
ENST00000380707.8:c.846A>C	ENSP00000370083.4:p.Gln282His
ENST00000503079.6:c.750A>C	ENSP00000428128.1:p.Gln250His
ENST00000506163.5:c.835-487A>C	ENSP00000424926.1:n.835-487A>C
ENST00000506239.6:c.*59-487A>C	ENSP00000422679.2:n.*59-487A>C
ENST00000510679.1:n.100A>C
ENST00000514951.5:c.645A>C	ENSP00000423298.1:p.Gln215His
NM_000344.3:c.846A>C , LRG_676t1:c.846A>C	NP_000335.1:p.Gln282His
NM_001297715.1:c.835-487A>C	NP_001284644.1:n.835-487A>C
NM_022874.2:c.750A>C	NP_075012.1:p.Gln250His
XM_011543597.1:c.645A>C	XP_011541899.1:p.Gln215His
XM_011543598.1:c.549A>C	XP_011541900.1:p.Gln183His
XM_011543598.3:c.549A>C	XP_011541900.1:p.Gln183His
XM_017009786.1:c.739-487A>C	XP_016865275.1:n.739-487A>C
NM_000344.4:c.846A>C MANE Select	NP_000335.1:p.Gln282His