Canonical Allele Identifier: CA1950148493

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393664G= , CM000673.2:g.6393664G=	GRCh38
NC_000011.9:g.6414894G= , CM000673.1:g.6414894G=	GRCh37
NC_000011.8:g.6371470G=	NCBI36
NG_011780.1:g.8240G=
NG_029615.1:g.30751C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1311G= MANE Select	ENSP00000340409.4:p.Trp437=
ENST00000342245.8:c.1311G=	ENSP00000340409.4:p.Trp437=
ENST00000526280.1:c.368G=
ENST00000527275.5:c.1308G=	ENSP00000435350.1:p.Trp436=
ENST00000531303.5:c.*142G=	ENSP00000432625.1:n.*142G=
ENST00000531336.1:n.143G=
ENST00000532367.1:n.147G=
ENST00000533123.5:c.*38G=	ENSP00000435950.1:n.*38G=
ENST00000534405.5:c.*142G=	ENSP00000434353.1:n.*142G=
NM_000543.4:c.1311G=	NP_000534.3:p.Trp437=
NM_001007593.2:c.1308G=	NP_001007594.2:p.Trp436=
XM_005253075.3:c.1311G=	XP_005253132.1:p.Trp437=
XM_011520303.1:c.1179G=	XP_011518605.1:p.Trp393=
XM_011520304.1:c.1179G=	XP_011518606.1:p.Trp393=
XR_930886.1:n.1649G=
NM_001318087.1:c.1311G=	NP_001305016.1:p.Trp437=
NM_001318088.1:c.390G=	NP_001305017.1:p.Trp130=
NM_001365135.1:c.1179G=	NP_001352064.1:p.Trp393=
NR_027400.2:n.1324G=
NR_134502.1:n.843G=
XM_011520304.2:c.1179G=	XP_011518606.1:p.Trp393=
XR_001747940.2:n.1476G=
XR_002957158.1:n.1476G=
NM_000543.5:c.1311G= MANE Select	NP_000534.3:p.Trp437=
NM_001007593.3:c.1308G=	NP_001007594.2:p.Trp436=
NM_001318087.2:c.1311G=	NP_001305016.1:p.Trp437=
NM_001318088.2:c.390G=	NP_001305017.1:p.Trp130=
NM_001365135.2:c.1179G=	NP_001352064.1:p.Trp393=
NR_027400.3:n.1264G=
NR_134502.2:n.783G=