Canonical Allele Identifier: CA1950149068

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394015C= , CM000673.2:g.6394015C=	GRCh38
NC_000011.9:g.6415245C= , CM000673.1:g.6415245C=	GRCh37
NC_000011.8:g.6371821C=	NCBI36
NG_011780.1:g.8591C=
NG_029615.1:g.30400G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1460C= MANE Select	ENSP00000340409.4:p.Ala487=
ENST00000342245.8:c.1460C=	ENSP00000340409.4:p.Ala487=
ENST00000526280.1:c.517C=
ENST00000527275.5:c.1457C=	ENSP00000435350.1:p.Ala486=
ENST00000531303.5:c.*291C=	ENSP00000432625.1:n.*291C=
ENST00000531336.1:n.292C=
ENST00000532367.1:n.296C=
ENST00000533123.5:c.*187C=	ENSP00000435950.1:n.*187C=
ENST00000534405.5:c.*291C=	ENSP00000434353.1:n.*291C=
NM_000543.4:c.1460C=	NP_000534.3:p.Ala487=
NM_001007593.2:c.1457C=	NP_001007594.2:p.Ala486=
XM_005253075.3:c.1460C=	XP_005253132.1:p.Ala487=
XM_011520303.1:c.1328C=	XP_011518605.1:p.Ala443=
XM_011520304.1:c.1328C=	XP_011518606.1:p.Ala443=
XR_930886.1:n.1798C=
NM_001318087.1:c.1460C=	NP_001305016.1:p.Ala487=
NM_001318088.1:c.539C=	NP_001305017.1:p.Ala180=
NM_001365135.1:c.1328C=	NP_001352064.1:p.Ala443=
NR_027400.2:n.1473C=
NR_134502.1:n.992C=
XM_011520304.2:c.1328C=	XP_011518606.1:p.Ala443=
XR_001747940.2:n.1625C=
XR_002957158.1:n.1827C=
NM_000543.5:c.1460C= MANE Select	NP_000534.3:p.Ala487=
NM_001007593.3:c.1457C=	NP_001007594.2:p.Ala486=
NM_001318087.2:c.1460C=	NP_001305016.1:p.Ala487=
NM_001318088.2:c.539C=	NP_001305017.1:p.Ala180=
NM_001365135.2:c.1328C=	NP_001352064.1:p.Ala443=
NR_027400.3:n.1413C=
NR_134502.2:n.932C=