Canonical Allele Identifier: CA1950146128

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391438C= , CM000673.2:g.6391438C=	GRCh38
NC_000011.9:g.6412668C= , CM000673.1:g.6412668C=	GRCh37
NC_000011.8:g.6369244C=	NCBI36
NG_011780.1:g.6014C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.373C= MANE Select	ENSP00000340409.4:p.Leu125=
ENST00000342245.8:c.373C=	ENSP00000340409.4:p.Leu125=
ENST00000527275.5:c.370C=	ENSP00000435350.1:p.Leu124=
ENST00000530395.1:c.-95-352C=	ENSP00000431479.1:n.-95-352C=
ENST00000531303.5:c.373C=	ENSP00000432625.1:p.Leu125=
ENST00000533123.5:c.373C=	ENSP00000435950.1:p.Leu125=
ENST00000533196.1:n.375-568C=
ENST00000534405.5:c.373C=	ENSP00000434353.1:p.Leu125=
NM_000543.4:c.373C=	NP_000534.3:p.Leu125=
NM_001007593.2:c.370C=	NP_001007594.2:p.Leu124=
XM_005253075.3:c.373C=	XP_005253132.1:p.Leu125=
XM_011520303.1:c.373C=	XP_011518605.1:p.Leu125=
XM_011520304.1:c.373C=	XP_011518606.1:p.Leu125=
XR_930886.1:n.671C=
NM_001318087.1:c.373C=	NP_001305016.1:p.Leu125=
NM_001318088.1:c.-589C=	NP_001305017.1:n.-589C=
NM_001365135.1:c.373C=	NP_001352064.1:p.Leu125=
NR_027400.2:n.558C=
NR_134502.1:n.558C=
XM_011520304.2:c.373C=	XP_011518606.1:p.Leu125=
XR_001747940.2:n.498C=
XR_002957158.1:n.498C=
NM_000543.5:c.373C= MANE Select	NP_000534.3:p.Leu125=
NM_001007593.3:c.370C=	NP_001007594.2:p.Leu124=
NM_001318087.2:c.373C=	NP_001305016.1:p.Leu125=
NM_001318088.2:c.-589C=	NP_001305017.1:n.-589C=
NM_001365135.2:c.373C=	NP_001352064.1:p.Leu125=
NR_027400.3:n.498C=
NR_134502.2:n.498C=