Canonical Allele Identifier: CA2790302537

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392486_6392487insGT , CM000673.2:g.6392486_6392487insGT	GRCh38
NC_000011.9:g.6413716_6413717insGT , CM000673.1:g.6413716_6413717insGT	GRCh37
NC_000011.8:g.6370292_6370293insGT	NCBI36
NG_011780.1:g.7062_7063insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+330_1091+331insGT MANE Select	ENSP00000340409.4:n.1091+330_1091+331insGT
ENST00000342245.8:c.1091+330_1091+331insGT	ENSP00000340409.4:n.1091+330_1091+331insGT
ENST00000526280.1:c.320+290_320+291insGT
ENST00000527275.5:c.1088+330_1088+331insGT	ENSP00000435350.1:n.1088+330_1088+331insGT
ENST00000531303.5:c.439-730_439-729insGT	ENSP00000432625.1:n.439-730_439-729insGT
ENST00000533123.5:c.1091+330_1091+331insGT	ENSP00000435950.1:n.1091+330_1091+331insGT
ENST00000534405.5:c.1131+290_1131+291insGT	ENSP00000434353.1:n.1131+290_1131+291insGT
NM_000543.4:c.1091+330_1091+331insGT	NP_000534.3:n.1091+330_1091+331insGT
NM_001007593.2:c.1088+330_1088+331insGT	NP_001007594.2:n.1088+330_1088+331insGT
XM_005253075.3:c.1091+330_1091+331insGT	XP_005253132.1:n.1091+330_1091+331insGT
XM_011520303.1:c.1131+290_1131+291insGT	XP_011518605.1:n.1131+290_1131+291insGT
XM_011520304.1:c.1131+290_1131+291insGT	XP_011518606.1:n.1131+290_1131+291insGT
XR_930886.1:n.1429+290_1429+291insGT
NM_001318087.1:c.1091+330_1091+331insGT	NP_001305016.1:n.1091+330_1091+331insGT
NM_001318088.1:c.170+290_170+291insGT	NP_001305017.1:n.170+290_170+291insGT
NM_001365135.1:c.1131+290_1131+291insGT	NP_001352064.1:n.1131+290_1131+291insGT
NR_027400.2:n.1276+330_1276+331insGT
NR_134502.1:n.624-730_624-729insGT
XM_011520304.2:c.1131+290_1131+291insGT	XP_011518606.1:n.1131+290_1131+291insGT
XR_001747940.2:n.1256+290_1256+291insGT
XR_002957158.1:n.1256+290_1256+291insGT
NM_000543.5:c.1091+330_1091+331insGT MANE Select	NP_000534.3:n.1091+330_1091+331insGT
NM_001007593.3:c.1088+330_1088+331insGT	NP_001007594.2:n.1088+330_1088+331insGT
NM_001318087.2:c.1091+330_1091+331insGT	NP_001305016.1:n.1091+330_1091+331insGT
NM_001318088.2:c.170+290_170+291insGT	NP_001305017.1:n.170+290_170+291insGT
NM_001365135.2:c.1131+290_1131+291insGT	NP_001352064.1:n.1131+290_1131+291insGT
NR_027400.3:n.1216+330_1216+331insGT
NR_134502.2:n.564-730_564-729insGT