Canonical Allele Identifier: CA1950149330

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394203C= , CM000673.2:g.6394203C=	GRCh38
NC_000011.9:g.6415433C= , CM000673.1:g.6415433C=	GRCh37
NC_000011.8:g.6372009C=	NCBI36
NG_011780.1:g.8779C=
NG_029615.1:g.30212G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1492C= MANE Select	ENSP00000340409.4:p.Arg498=
ENST00000342245.8:c.1492C=	ENSP00000340409.4:p.Arg498=
ENST00000526280.1:c.549C=
ENST00000527275.5:c.1489C=	ENSP00000435350.1:p.Arg497=
ENST00000531303.5:c.*343C=	ENSP00000432625.1:n.*343C=
ENST00000531336.1:n.480C=
ENST00000533123.5:c.*219C=	ENSP00000435950.1:n.*219C=
ENST00000534405.5:c.*323C=	ENSP00000434353.1:n.*323C=
NM_000543.4:c.1492C=	NP_000534.3:p.Arg498=
NM_001007593.2:c.1489C=	NP_001007594.2:p.Arg497=
XM_005253075.3:c.1512C=	XP_005253132.1:p.Thr504=
XM_011520303.1:c.1360C=	XP_011518605.1:p.Arg454=
XM_011520304.1:c.1380C=	XP_011518606.1:p.Thr460=
NM_001318087.1:c.1512C=	NP_001305016.1:p.Thr504=
NM_001318088.1:c.571C=	NP_001305017.1:p.Arg191=
NM_001365135.1:c.1360C=	NP_001352064.1:p.Arg454=
NR_027400.2:n.1505C=
NR_134502.1:n.1044C=
XM_011520304.2:c.1380C=	XP_011518606.1:p.Thr460=
XR_001747940.2:n.1677C=
XR_002957158.1:n.1859C=
NM_000543.5:c.1492C= MANE Select	NP_000534.3:p.Arg498=
NM_001007593.3:c.1489C=	NP_001007594.2:p.Arg497=
NM_001318087.2:c.1512C=	NP_001305016.1:p.Thr504=
NM_001318088.2:c.571C=	NP_001305017.1:p.Arg191=
NM_001365135.2:c.1360C=	NP_001352064.1:p.Arg454=
NR_027400.3:n.1445C=
NR_134502.2:n.984C=