Canonical Allele Identifier: CA1950148953

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393953G= , CM000673.2:g.6393953G=	GRCh38
NC_000011.9:g.6415183G= , CM000673.1:g.6415183G=	GRCh37
NC_000011.8:g.6371759G=	NCBI36
NG_011780.1:g.8529G=
NG_029615.1:g.30462C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1398G= MANE Select	ENSP00000340409.4:p.Glu466=
ENST00000342245.8:c.1398G=	ENSP00000340409.4:p.Glu466=
ENST00000526280.1:c.455G=
ENST00000527275.5:c.1395G=	ENSP00000435350.1:p.Glu465=
ENST00000531303.5:c.*229G=	ENSP00000432625.1:n.*229G=
ENST00000531336.1:n.230G=
ENST00000532367.1:n.234G=
ENST00000533123.5:c.*125G=	ENSP00000435950.1:n.*125G=
ENST00000534405.5:c.*229G=	ENSP00000434353.1:n.*229G=
NM_000543.4:c.1398G=	NP_000534.3:p.Glu466=
NM_001007593.2:c.1395G=	NP_001007594.2:p.Glu465=
XM_005253075.3:c.1398G=	XP_005253132.1:p.Glu466=
XM_011520303.1:c.1266G=	XP_011518605.1:p.Glu422=
XM_011520304.1:c.1266G=	XP_011518606.1:p.Glu422=
XR_930886.1:n.1736G=
NM_001318087.1:c.1398G=	NP_001305016.1:p.Glu466=
NM_001318088.1:c.477G=	NP_001305017.1:p.Glu159=
NM_001365135.1:c.1266G=	NP_001352064.1:p.Glu422=
NR_027400.2:n.1411G=
NR_134502.1:n.930G=
XM_011520304.2:c.1266G=	XP_011518606.1:p.Glu422=
XR_001747940.2:n.1563G=
XR_002957158.1:n.1765G=
NM_000543.5:c.1398G= MANE Select	NP_000534.3:p.Glu466=
NM_001007593.3:c.1395G=	NP_001007594.2:p.Glu465=
NM_001318087.2:c.1398G=	NP_001305016.1:p.Glu466=
NM_001318088.2:c.477G=	NP_001305017.1:p.Glu159=
NM_001365135.2:c.1266G=	NP_001352064.1:p.Glu422=
NR_027400.3:n.1351G=
NR_134502.2:n.870G=