Canonical Allele Identifier: CA1950149867

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394413C= , CM000673.2:g.6394413C=	GRCh38
NC_000011.9:g.6415643C= , CM000673.1:g.6415643C=	GRCh37
NC_000011.8:g.6372219C=	NCBI36
NG_011780.1:g.8989C=
NG_029615.1:g.30002G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1702C= MANE Select	ENSP00000340409.4:p.Leu568=
ENST00000342245.8:c.1702C=	ENSP00000340409.4:p.Leu568=
ENST00000526280.1:c.759C=
ENST00000527275.5:c.1699C=	ENSP00000435350.1:p.Leu567=
ENST00000531303.5:c.*553C=	ENSP00000432625.1:n.*553C=
ENST00000533123.5:c.*429C=	ENSP00000435950.1:n.*429C=
ENST00000534405.5:c.*533C=	ENSP00000434353.1:n.*533C=
NM_000543.4:c.1702C=	NP_000534.3:p.Leu568=
NM_001007593.2:c.1699C=	NP_001007594.2:p.Leu567=
XM_005253075.3:c.*195C=	XP_005253132.1:n.*195C=
XM_011520303.1:c.1570C=	XP_011518605.1:p.Leu524=
XM_011520304.1:c.*195C=	XP_011518606.1:n.*195C=
NM_001318087.1:c.*195C=	NP_001305016.1:n.*195C=
NM_001318088.1:c.781C=	NP_001305017.1:p.Leu261=
NM_001365135.1:c.1570C=	NP_001352064.1:p.Leu524=
NR_027400.2:n.1715C=
NR_134502.1:n.1254C=
XM_011520304.2:c.*195C=	XP_011518606.1:n.*195C=
XR_001747940.2:n.1887C=
XR_002957158.1:n.2069C=
NM_000543.5:c.1702C= MANE Select	NP_000534.3:p.Leu568=
NM_001007593.3:c.1699C=	NP_001007594.2:p.Leu567=
NM_001318087.2:c.*195C=	NP_001305016.1:n.*195C=
NM_001318088.2:c.781C=	NP_001305017.1:p.Leu261=
NM_001365135.2:c.1570C=	NP_001352064.1:p.Leu524=
NR_027400.3:n.1655C=
NR_134502.2:n.1194C=