Canonical Allele Identifier: CA2790302539

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392487_6392488insG , CM000673.2:g.6392487_6392488insG	GRCh38
NC_000011.9:g.6413717_6413718insG , CM000673.1:g.6413717_6413718insG	GRCh37
NC_000011.8:g.6370293_6370294insG	NCBI36
NG_011780.1:g.7063_7064insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+331_1091+332insG MANE Select	ENSP00000340409.4:n.1091+331_1091+332insG
ENST00000342245.8:c.1091+331_1091+332insG	ENSP00000340409.4:n.1091+331_1091+332insG
ENST00000526280.1:c.320+291_320+292insG
ENST00000527275.5:c.1088+331_1088+332insG	ENSP00000435350.1:n.1088+331_1088+332insG
ENST00000531303.5:c.439-729_439-728insG	ENSP00000432625.1:n.439-729_439-728insG
ENST00000533123.5:c.1091+331_1091+332insG	ENSP00000435950.1:n.1091+331_1091+332insG
ENST00000534405.5:c.1131+291_1131+292insG	ENSP00000434353.1:n.1131+291_1131+292insG
NM_000543.4:c.1091+331_1091+332insG	NP_000534.3:n.1091+331_1091+332insG
NM_001007593.2:c.1088+331_1088+332insG	NP_001007594.2:n.1088+331_1088+332insG
XM_005253075.3:c.1091+331_1091+332insG	XP_005253132.1:n.1091+331_1091+332insG
XM_011520303.1:c.1131+291_1131+292insG	XP_011518605.1:n.1131+291_1131+292insG
XM_011520304.1:c.1131+291_1131+292insG	XP_011518606.1:n.1131+291_1131+292insG
XR_930886.1:n.1429+291_1429+292insG
NM_001318087.1:c.1091+331_1091+332insG	NP_001305016.1:n.1091+331_1091+332insG
NM_001318088.1:c.170+291_170+292insG	NP_001305017.1:n.170+291_170+292insG
NM_001365135.1:c.1131+291_1131+292insG	NP_001352064.1:n.1131+291_1131+292insG
NR_027400.2:n.1276+331_1276+332insG
NR_134502.1:n.624-729_624-728insG
XM_011520304.2:c.1131+291_1131+292insG	XP_011518606.1:n.1131+291_1131+292insG
XR_001747940.2:n.1256+291_1256+292insG
XR_002957158.1:n.1256+291_1256+292insG
NM_000543.5:c.1091+331_1091+332insG MANE Select	NP_000534.3:n.1091+331_1091+332insG
NM_001007593.3:c.1088+331_1088+332insG	NP_001007594.2:n.1088+331_1088+332insG
NM_001318087.2:c.1091+331_1091+332insG	NP_001305016.1:n.1091+331_1091+332insG
NM_001318088.2:c.170+291_170+292insG	NP_001305017.1:n.170+291_170+292insG
NM_001365135.2:c.1131+291_1131+292insG	NP_001352064.1:n.1131+291_1131+292insG
NR_027400.3:n.1216+331_1216+332insG
NR_134502.2:n.564-729_564-728insG