Canonical Allele Identifier: CA1950149757

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394372C= , CM000673.2:g.6394372C=	GRCh38
NC_000011.9:g.6415602C= , CM000673.1:g.6415602C=	GRCh37
NC_000011.8:g.6372178C=	NCBI36
NG_011780.1:g.8948C=
NG_029615.1:g.30043G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1661C= MANE Select	ENSP00000340409.4:p.Ala554=
ENST00000342245.8:c.1661C=	ENSP00000340409.4:p.Ala554=
ENST00000526280.1:c.718C=
ENST00000527275.5:c.1658C=	ENSP00000435350.1:p.Ala553=
ENST00000531303.5:c.*512C=	ENSP00000432625.1:n.*512C=
ENST00000531336.1:n.649C=
ENST00000533123.5:c.*388C=	ENSP00000435950.1:n.*388C=
ENST00000534405.5:c.*492C=	ENSP00000434353.1:n.*492C=
NM_000543.4:c.1661C=	NP_000534.3:p.Ala554=
NM_001007593.2:c.1658C=	NP_001007594.2:p.Ala553=
XM_005253075.3:c.*154C=	XP_005253132.1:n.*154C=
XM_011520303.1:c.1529C=	XP_011518605.1:p.Ala510=
XM_011520304.1:c.*154C=	XP_011518606.1:n.*154C=
NM_001318087.1:c.*154C=	NP_001305016.1:n.*154C=
NM_001318088.1:c.740C=	NP_001305017.1:p.Ala247=
NM_001365135.1:c.1529C=	NP_001352064.1:p.Ala510=
NR_027400.2:n.1674C=
NR_134502.1:n.1213C=
XM_011520304.2:c.*154C=	XP_011518606.1:n.*154C=
XR_001747940.2:n.1846C=
XR_002957158.1:n.2028C=
NM_000543.5:c.1661C= MANE Select	NP_000534.3:p.Ala554=
NM_001007593.3:c.1658C=	NP_001007594.2:p.Ala553=
NM_001318087.2:c.*154C=	NP_001305016.1:n.*154C=
NM_001318088.2:c.740C=	NP_001305017.1:p.Ala247=
NM_001365135.2:c.1529C=	NP_001352064.1:p.Ala510=
NR_027400.3:n.1614C=
NR_134502.2:n.1153C=