Canonical Allele Identifier: CA1950147940

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393289C= , CM000673.2:g.6393289C=	GRCh38
NC_000011.9:g.6414519C= , CM000673.1:g.6414519C=	GRCh37
NC_000011.8:g.6371095C=	NCBI36
NG_011780.1:g.7865C=
NG_029615.1:g.31126G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1165C= MANE Select	ENSP00000340409.4:p.Arg389=
ENST00000342245.8:c.1165C=	ENSP00000340409.4:p.Arg389=
ENST00000526280.1:c.321-328C=
ENST00000527275.5:c.1162C=	ENSP00000435350.1:p.Arg388=
ENST00000531303.5:c.512C=	ENSP00000432625.1:p.Pro171=
ENST00000533123.5:c.1092-328C=	ENSP00000435950.1:n.1092-328C=
ENST00000534405.5:c.1205C=	ENSP00000434353.1:p.Pro402=
NM_000543.4:c.1165C=	NP_000534.3:p.Arg389=
NM_001007593.2:c.1162C=	NP_001007594.2:p.Arg388=
XM_005253075.3:c.1165C=	XP_005253132.1:p.Arg389=
XM_011520303.1:c.1132-328C=	XP_011518605.1:n.1132-328C=
XM_011520304.1:c.1132-328C=	XP_011518606.1:n.1132-328C=
XR_930886.1:n.1503C=
NM_001318087.1:c.1165C=	NP_001305016.1:p.Arg389=
NM_001318088.1:c.244C=	NP_001305017.1:p.Arg82=
NM_001365135.1:c.1132-328C=	NP_001352064.1:n.1132-328C=
NR_027400.2:n.1277-328C=
NR_134502.1:n.697C=
XM_011520304.2:c.1132-328C=	XP_011518606.1:n.1132-328C=
XR_001747940.2:n.1330C=
XR_002957158.1:n.1330C=
NM_000543.5:c.1165C= MANE Select	NP_000534.3:p.Arg389=
NM_001007593.3:c.1162C=	NP_001007594.2:p.Arg388=
NM_001318087.2:c.1165C=	NP_001305016.1:p.Arg389=
NM_001318088.2:c.244C=	NP_001305017.1:p.Arg82=
NM_001365135.2:c.1132-328C=	NP_001352064.1:n.1132-328C=
NR_027400.3:n.1217-328C=
NR_134502.2:n.637C=