Canonical Allele Identifier: CA360097273

Gene: SMN1

Linked Data

• MyVariant Identifiers: chr5:g.70241989A>G (hg19) ; chr5:g.70946162A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946162A>G , CM000667.2:g.70946162A>G	GRCh38
NC_000005.9:g.70241989A>G , CM000667.1:g.70241989A>G	GRCh37
NC_000005.8:g.70277745A>G	NCBI36
NG_008691.1:g.26222A>G , LRG_676:g.26222A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.820A>G MANE Select	ENSP00000370083.4:p.Thr274Ala
ENST00000351205.8:c.820A>G	ENSP00000305857.5:p.Thr274Ala
ENST00000380707.8:c.820A>G	ENSP00000370083.4:p.Thr274Ala
ENST00000503079.6:c.724A>G	ENSP00000428128.1:p.Thr242Ala
ENST00000506163.5:c.820A>G	ENSP00000424926.1:p.Thr274Ala
ENST00000506239.6:c.820A>G	ENSP00000422679.2:p.Thr274Ala
ENST00000510679.1:n.74A>G
ENST00000513228.1:n.387A>G
ENST00000514951.5:c.619A>G	ENSP00000423298.1:p.Thr207Ala
ENST00000518504.5:n.337A>G
ENST00000625245.2:c.820A>G	ENSP00000486539.1:p.Thr274Ala
NM_000344.3:c.820A>G , LRG_676t1:c.820A>G	NP_000335.1:p.Thr274Ala
NM_001297715.1:c.820A>G	NP_001284644.1:p.Thr274Ala
NM_022874.2:c.724A>G	NP_075012.1:p.Thr242Ala
XM_011543596.1:c.820A>G	XP_011541898.1:p.Thr274Ala
XM_011543597.1:c.619A>G	XP_011541899.1:p.Thr207Ala
XM_011543598.1:c.523A>G	XP_011541900.1:p.Thr175Ala
XM_011543598.3:c.523A>G	XP_011541900.1:p.Thr175Ala
XM_017009786.1:c.724A>G	XP_016865275.1:p.Thr242Ala
NM_000344.4:c.820A>G MANE Select	NP_000335.1:p.Thr274Ala