Canonical Allele Identifier: CA360096815

Gene: SMN1

Linked Data

• MyVariant Identifiers: chr5:g.70241934T>G (hg19) ; chr5:g.70946107T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.70946107T>G , CM000667.2:g.70946107T>G	GRCh38
NC_000005.9:g.70241934T>G , CM000667.1:g.70241934T>G	GRCh37
NC_000005.8:g.70277690T>G	NCBI36
NG_008691.1:g.26167T>G , LRG_676:g.26167T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380707.9:c.765T>G MANE Select	ENSP00000370083.4:p.Asp255Glu
ENST00000351205.8:c.765T>G	ENSP00000305857.5:p.Asp255Glu
ENST00000380707.8:c.765T>G	ENSP00000370083.4:p.Asp255Glu
ENST00000503079.6:c.669T>G	ENSP00000428128.1:p.Asp223Glu
ENST00000506163.5:c.765T>G	ENSP00000424926.1:p.Asp255Glu
ENST00000506239.6:c.765T>G	ENSP00000422679.2:p.Asp255Glu
ENST00000510679.1:n.19T>G
ENST00000513228.1:n.332T>G
ENST00000514951.5:c.564T>G	ENSP00000423298.1:p.Asp188Glu
ENST00000518504.5:n.282T>G
ENST00000625245.2:c.765T>G	ENSP00000486539.1:p.Asp255Glu
NM_000344.3:c.765T>G , LRG_676t1:c.765T>G	NP_000335.1:p.Asp255Glu
NM_001297715.1:c.765T>G	NP_001284644.1:p.Asp255Glu
NM_022874.2:c.669T>G	NP_075012.1:p.Asp223Glu
XM_011543596.1:c.765T>G	XP_011541898.1:p.Asp255Glu
XM_011543597.1:c.564T>G	XP_011541899.1:p.Asp188Glu
XM_011543598.1:c.468T>G	XP_011541900.1:p.Asp156Glu
XM_011543598.3:c.468T>G	XP_011541900.1:p.Asp156Glu
XM_017009786.1:c.669T>G	XP_016865275.1:p.Asp223Glu
NM_000344.4:c.765T>G MANE Select	NP_000335.1:p.Asp255Glu