Canonical Allele Identifier: CA1950148849

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393915G= , CM000673.2:g.6393915G=	GRCh38
NC_000011.9:g.6415145G= , CM000673.1:g.6415145G=	GRCh37
NC_000011.8:g.6371721G=	NCBI36
NG_011780.1:g.8491G=
NG_029615.1:g.30500C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1360G= MANE Select	ENSP00000340409.4:p.Ala454=
ENST00000342245.8:c.1360G=	ENSP00000340409.4:p.Ala454=
ENST00000526280.1:c.417G=
ENST00000527275.5:c.1357G=	ENSP00000435350.1:p.Ala453=
ENST00000531303.5:c.*191G=	ENSP00000432625.1:n.*191G=
ENST00000531336.1:n.192G=
ENST00000532367.1:n.196G=
ENST00000533123.5:c.*87G=	ENSP00000435950.1:n.*87G=
ENST00000534405.5:c.*191G=	ENSP00000434353.1:n.*191G=
NM_000543.4:c.1360G=	NP_000534.3:p.Ala454=
NM_001007593.2:c.1357G=	NP_001007594.2:p.Ala453=
XM_005253075.3:c.1360G=	XP_005253132.1:p.Ala454=
XM_011520303.1:c.1228G=	XP_011518605.1:p.Ala410=
XM_011520304.1:c.1228G=	XP_011518606.1:p.Ala410=
XR_930886.1:n.1698G=
NM_001318087.1:c.1360G=	NP_001305016.1:p.Ala454=
NM_001318088.1:c.439G=	NP_001305017.1:p.Ala147=
NM_001365135.1:c.1228G=	NP_001352064.1:p.Ala410=
NR_027400.2:n.1373G=
NR_134502.1:n.892G=
XM_011520304.2:c.1228G=	XP_011518606.1:p.Ala410=
XR_001747940.2:n.1525G=
XR_002957158.1:n.1727G=
NM_000543.5:c.1360G= MANE Select	NP_000534.3:p.Ala454=
NM_001007593.3:c.1357G=	NP_001007594.2:p.Ala453=
NM_001318087.2:c.1360G=	NP_001305016.1:p.Ala454=
NM_001318088.2:c.439G=	NP_001305017.1:p.Ala147=
NM_001365135.2:c.1228G=	NP_001352064.1:p.Ala410=
NR_027400.3:n.1313G=
NR_134502.2:n.832G=