Canonical Allele Identifier: CA1950149492

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394261A= , CM000673.2:g.6394261A=	GRCh38
NC_000011.9:g.6415491A= , CM000673.1:g.6415491A=	GRCh37
NC_000011.8:g.6372067A=	NCBI36
NG_011780.1:g.8837A=
NG_029615.1:g.30154T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1550A= MANE Select	ENSP00000340409.4:p.Glu517=
ENST00000342245.8:c.1550A=	ENSP00000340409.4:p.Glu517=
ENST00000526280.1:c.607A=
ENST00000527275.5:c.1547A=	ENSP00000435350.1:p.Glu516=
ENST00000531303.5:c.*401A=	ENSP00000432625.1:n.*401A=
ENST00000531336.1:n.538A=
ENST00000533123.5:c.*277A=	ENSP00000435950.1:n.*277A=
ENST00000534405.5:c.*381A=	ENSP00000434353.1:n.*381A=
NM_000543.4:c.1550A=	NP_000534.3:p.Glu517=
NM_001007593.2:c.1547A=	NP_001007594.2:p.Glu516=
XM_005253075.3:c.*43A=	XP_005253132.1:n.*43A=
XM_011520303.1:c.1418A=	XP_011518605.1:p.Glu473=
XM_011520304.1:c.*43A=	XP_011518606.1:n.*43A=
NM_001318087.1:c.*43A=	NP_001305016.1:n.*43A=
NM_001318088.1:c.629A=	NP_001305017.1:p.Glu210=
NM_001365135.1:c.1418A=	NP_001352064.1:p.Glu473=
NR_027400.2:n.1563A=
NR_134502.1:n.1102A=
XM_011520304.2:c.*43A=	XP_011518606.1:n.*43A=
XR_001747940.2:n.1735A=
XR_002957158.1:n.1917A=
NM_000543.5:c.1550A= MANE Select	NP_000534.3:p.Glu517=
NM_001007593.3:c.1547A=	NP_001007594.2:p.Glu516=
NM_001318087.2:c.*43A=	NP_001305016.1:n.*43A=
NM_001318088.2:c.629A=	NP_001305017.1:p.Glu210=
NM_001365135.2:c.1418A=	NP_001352064.1:p.Glu473=
NR_027400.3:n.1503A=
NR_134502.2:n.1042A=