Canonical Allele Identifier: CA1950149950

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394462A= , CM000673.2:g.6394462A=	GRCh38
NC_000011.9:g.6415692A= , CM000673.1:g.6415692A=	GRCh37
NC_000011.8:g.6372268A=	NCBI36
NG_011780.1:g.9038A=
NG_029615.1:g.29953T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1751A= MANE Select	ENSP00000340409.4:p.Glu584=
ENST00000342245.8:c.1751A=	ENSP00000340409.4:p.Glu584=
ENST00000526280.1:c.808A=
ENST00000527275.5:c.1748A=	ENSP00000435350.1:p.Glu583=
ENST00000531303.5:c.*602A=	ENSP00000432625.1:n.*602A=
ENST00000533123.5:c.*478A=	ENSP00000435950.1:n.*478A=
ENST00000534405.5:c.*582A=	ENSP00000434353.1:n.*582A=
NM_000543.4:c.1751A=	NP_000534.3:p.Glu584=
NM_001007593.2:c.1748A=	NP_001007594.2:p.Glu583=
XM_005253075.3:c.*244A=	XP_005253132.1:n.*244A=
XM_011520303.1:c.1619A=	XP_011518605.1:p.Glu540=
XM_011520304.1:c.*244A=	XP_011518606.1:n.*244A=
NM_001318087.1:c.*244A=	NP_001305016.1:n.*244A=
NM_001318088.1:c.830A=	NP_001305017.1:p.Glu277=
NM_001365135.1:c.1619A=	NP_001352064.1:p.Glu540=
NR_027400.2:n.1764A=
NR_134502.1:n.1303A=
XM_011520304.2:c.*244A=	XP_011518606.1:n.*244A=
XR_001747940.2:n.1936A=
XR_002957158.1:n.2118A=
NM_000543.5:c.1751A= MANE Select	NP_000534.3:p.Glu584=
NM_001007593.3:c.1748A=	NP_001007594.2:p.Glu583=
NM_001318087.2:c.*244A=	NP_001305016.1:n.*244A=
NM_001318088.2:c.830A=	NP_001305017.1:p.Glu277=
NM_001365135.2:c.1619A=	NP_001352064.1:p.Glu540=
NR_027400.3:n.1704A=
NR_134502.2:n.1243A=