Canonical Allele Identifier: CA1950146191

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391562C= , CM000673.2:g.6391562C=	GRCh38
NC_000011.9:g.6412792C= , CM000673.1:g.6412792C=	GRCh37
NC_000011.8:g.6369368C=	NCBI36
NG_011780.1:g.6138C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.497C= MANE Select	ENSP00000340409.4:p.Thr166=
ENST00000342245.8:c.497C=	ENSP00000340409.4:p.Thr166=
ENST00000527275.5:c.494C=	ENSP00000435350.1:p.Thr165=
ENST00000530395.1:c.-95-228C=	ENSP00000431479.1:n.-95-228C=
ENST00000531303.5:c.438+59C=	ENSP00000432625.1:n.438+59C=
ENST00000533123.5:c.497C=	ENSP00000435950.1:p.Thr166=
ENST00000533196.1:n.375-444C=
ENST00000534405.5:c.497C=	ENSP00000434353.1:p.Thr166=
NM_000543.4:c.497C=	NP_000534.3:p.Thr166=
NM_001007593.2:c.494C=	NP_001007594.2:p.Thr165=
XM_005253075.3:c.497C=	XP_005253132.1:p.Thr166=
XM_011520303.1:c.497C=	XP_011518605.1:p.Thr166=
XM_011520304.1:c.497C=	XP_011518606.1:p.Thr166=
XR_930886.1:n.795C=
NM_001318087.1:c.497C=	NP_001305016.1:p.Thr166=
NM_001318088.1:c.-465C=	NP_001305017.1:n.-465C=
NM_001365135.1:c.497C=	NP_001352064.1:p.Thr166=
NR_027400.2:n.682C=
NR_134502.1:n.623+59C=
XM_011520304.2:c.497C=	XP_011518606.1:p.Thr166=
XR_001747940.2:n.622C=
XR_002957158.1:n.622C=
NM_000543.5:c.497C= MANE Select	NP_000534.3:p.Thr166=
NM_001007593.3:c.494C=	NP_001007594.2:p.Thr165=
NM_001318087.2:c.497C=	NP_001305016.1:p.Thr166=
NM_001318088.2:c.-465C=	NP_001305017.1:n.-465C=
NM_001365135.2:c.497C=	NP_001352064.1:p.Thr166=
NR_027400.3:n.622C=
NR_134502.2:n.563+59C=