Canonical Allele Identifier: CA1950148970

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393970A= , CM000673.2:g.6393970A=	GRCh38
NC_000011.9:g.6415200A= , CM000673.1:g.6415200A=	GRCh37
NC_000011.8:g.6371776A=	NCBI36
NG_011780.1:g.8546A=
NG_029615.1:g.30445T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1415A= MANE Select	ENSP00000340409.4:p.Glu472=
ENST00000342245.8:c.1415A=	ENSP00000340409.4:p.Glu472=
ENST00000526280.1:c.472A=
ENST00000527275.5:c.1412A=	ENSP00000435350.1:p.Glu471=
ENST00000531303.5:c.*246A=	ENSP00000432625.1:n.*246A=
ENST00000531336.1:n.247A=
ENST00000532367.1:n.251A=
ENST00000533123.5:c.*142A=	ENSP00000435950.1:n.*142A=
ENST00000534405.5:c.*246A=	ENSP00000434353.1:n.*246A=
NM_000543.4:c.1415A=	NP_000534.3:p.Glu472=
NM_001007593.2:c.1412A=	NP_001007594.2:p.Glu471=
XM_005253075.3:c.1415A=	XP_005253132.1:p.Glu472=
XM_011520303.1:c.1283A=	XP_011518605.1:p.Glu428=
XM_011520304.1:c.1283A=	XP_011518606.1:p.Glu428=
XR_930886.1:n.1753A=
NM_001318087.1:c.1415A=	NP_001305016.1:p.Glu472=
NM_001318088.1:c.494A=	NP_001305017.1:p.Glu165=
NM_001365135.1:c.1283A=	NP_001352064.1:p.Glu428=
NR_027400.2:n.1428A=
NR_134502.1:n.947A=
XM_011520304.2:c.1283A=	XP_011518606.1:p.Glu428=
XR_001747940.2:n.1580A=
XR_002957158.1:n.1782A=
NM_000543.5:c.1415A= MANE Select	NP_000534.3:p.Glu472=
NM_001007593.3:c.1412A=	NP_001007594.2:p.Glu471=
NM_001318087.2:c.1415A=	NP_001305016.1:p.Glu472=
NM_001318088.2:c.494A=	NP_001305017.1:p.Glu165=
NM_001365135.2:c.1283A=	NP_001352064.1:p.Glu428=
NR_027400.3:n.1368A=
NR_134502.2:n.887A=