Canonical Allele Identifier: CA1950149339

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394204G= , CM000673.2:g.6394204G=	GRCh38
NC_000011.9:g.6415434G= , CM000673.1:g.6415434G=	GRCh37
NC_000011.8:g.6372010G=	NCBI36
NG_011780.1:g.8780G=
NG_029615.1:g.30211C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1493G= MANE Select	ENSP00000340409.4:p.Arg498=
ENST00000342245.8:c.1493G=	ENSP00000340409.4:p.Arg498=
ENST00000526280.1:c.550G=
ENST00000527275.5:c.1490G=	ENSP00000435350.1:p.Arg497=
ENST00000531303.5:c.*344G=	ENSP00000432625.1:n.*344G=
ENST00000531336.1:n.481G=
ENST00000533123.5:c.*220G=	ENSP00000435950.1:n.*220G=
ENST00000534405.5:c.*324G=	ENSP00000434353.1:n.*324G=
NM_000543.4:c.1493G=	NP_000534.3:p.Arg498=
NM_001007593.2:c.1490G=	NP_001007594.2:p.Arg497=
XM_005253075.3:c.1513G=	XP_005253132.1:p.Val505=
XM_011520303.1:c.1361G=	XP_011518605.1:p.Arg454=
XM_011520304.1:c.1381G=	XP_011518606.1:p.Val461=
NM_001318087.1:c.1513G=	NP_001305016.1:p.Val505=
NM_001318088.1:c.572G=	NP_001305017.1:p.Arg191=
NM_001365135.1:c.1361G=	NP_001352064.1:p.Arg454=
NR_027400.2:n.1506G=
NR_134502.1:n.1045G=
XM_011520304.2:c.1381G=	XP_011518606.1:p.Val461=
XR_001747940.2:n.1678G=
XR_002957158.1:n.1860G=
NM_000543.5:c.1493G= MANE Select	NP_000534.3:p.Arg498=
NM_001007593.3:c.1490G=	NP_001007594.2:p.Arg497=
NM_001318087.2:c.1513G=	NP_001305016.1:p.Val505=
NM_001318088.2:c.572G=	NP_001305017.1:p.Arg191=
NM_001365135.2:c.1361G=	NP_001352064.1:p.Arg454=
NR_027400.3:n.1446G=
NR_134502.2:n.985G=