Canonical Allele Identifier: CA1950149959

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394474C= , CM000673.2:g.6394474C=	GRCh38
NC_000011.9:g.6415704C= , CM000673.1:g.6415704C=	GRCh37
NC_000011.8:g.6372280C=	NCBI36
NG_011780.1:g.9050C=
NG_029615.1:g.29941G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1763C= MANE Select	ENSP00000340409.4:p.Thr588=
ENST00000342245.8:c.1763C=	ENSP00000340409.4:p.Thr588=
ENST00000526280.1:c.820C=
ENST00000527275.5:c.1760C=	ENSP00000435350.1:p.Thr587=
ENST00000531303.5:c.*614C=	ENSP00000432625.1:n.*614C=
ENST00000533123.5:c.*490C=	ENSP00000435950.1:n.*490C=
ENST00000534405.5:c.*594C=	ENSP00000434353.1:n.*594C=
NM_000543.4:c.1763C=	NP_000534.3:p.Thr588=
NM_001007593.2:c.1760C=	NP_001007594.2:p.Thr587=
XM_005253075.3:c.*256C=	XP_005253132.1:n.*256C=
XM_011520303.1:c.1631C=	XP_011518605.1:p.Thr544=
XM_011520304.1:c.*256C=	XP_011518606.1:n.*256C=
NM_001318087.1:c.*256C=	NP_001305016.1:n.*256C=
NM_001318088.1:c.842C=	NP_001305017.1:p.Thr281=
NM_001365135.1:c.1631C=	NP_001352064.1:p.Thr544=
NR_027400.2:n.1776C=
NR_134502.1:n.1315C=
XM_011520304.2:c.*256C=	XP_011518606.1:n.*256C=
XR_001747940.2:n.1948C=
XR_002957158.1:n.2130C=
NM_000543.5:c.1763C= MANE Select	NP_000534.3:p.Thr588=
NM_001007593.3:c.1760C=	NP_001007594.2:p.Thr587=
NM_001318087.2:c.*256C=	NP_001305016.1:n.*256C=
NM_001318088.2:c.842C=	NP_001305017.1:p.Thr281=
NM_001365135.2:c.1631C=	NP_001352064.1:p.Thr544=
NR_027400.3:n.1716C=
NR_134502.2:n.1255C=