Canonical Allele Identifier: CA1950147996

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393318C= , CM000673.2:g.6393318C=	GRCh38
NC_000011.9:g.6414548C= , CM000673.1:g.6414548C=	GRCh37
NC_000011.8:g.6371124C=	NCBI36
NG_011780.1:g.7894C=
NG_029615.1:g.31097G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1194C= MANE Select	ENSP00000340409.4:p.Ser398=
ENST00000342245.8:c.1194C=	ENSP00000340409.4:p.Ser398=
ENST00000526280.1:c.321-299C=
ENST00000527275.5:c.1191C=	ENSP00000435350.1:p.Ser397=
ENST00000531303.5:c.*25C=	ENSP00000432625.1:n.*25C=
ENST00000531336.1:n.26C=
ENST00000533123.5:c.1092-299C=	ENSP00000435950.1:n.1092-299C=
ENST00000534405.5:c.*25C=	ENSP00000434353.1:n.*25C=
NM_000543.4:c.1194C=	NP_000534.3:p.Ser398=
NM_001007593.2:c.1191C=	NP_001007594.2:p.Ser397=
XM_005253075.3:c.1194C=	XP_005253132.1:p.Ser398=
XM_011520303.1:c.1132-299C=	XP_011518605.1:n.1132-299C=
XM_011520304.1:c.1132-299C=	XP_011518606.1:n.1132-299C=
XR_930886.1:n.1532C=
NM_001318087.1:c.1194C=	NP_001305016.1:p.Ser398=
NM_001318088.1:c.273C=	NP_001305017.1:p.Ser91=
NM_001365135.1:c.1132-299C=	NP_001352064.1:n.1132-299C=
NR_027400.2:n.1277-299C=
NR_134502.1:n.726C=
XM_011520304.2:c.1132-299C=	XP_011518606.1:n.1132-299C=
XR_001747940.2:n.1359C=
XR_002957158.1:n.1359C=
NM_000543.5:c.1194C= MANE Select	NP_000534.3:p.Ser398=
NM_001007593.3:c.1191C=	NP_001007594.2:p.Ser397=
NM_001318087.2:c.1194C=	NP_001305016.1:p.Ser398=
NM_001318088.2:c.273C=	NP_001305017.1:p.Ser91=
NM_001365135.2:c.1132-299C=	NP_001352064.1:n.1132-299C=
NR_027400.3:n.1217-299C=
NR_134502.2:n.666C=