Canonical Allele Identifier: CA472910422

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394532T>A , CM000673.2:g.6394532T>A	GRCh38
NC_000011.9:g.6415762T>A , CM000673.1:g.6415762T>A	GRCh37
NC_000011.8:g.6372338T>A	NCBI36
NG_011780.1:g.9108T>A
NG_029615.1:g.29883A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1821T>A MANE Select	NP_000534.3:p.Ala607=
ENST00000342245.9:c.1821T>A MANE Select	ENSP00000340409.4:p.Ala607=
NM_000543.4:c.1821T>A	NP_000534.3:p.Ala607=
NM_001007593.2:c.1818T>A	NP_001007594.2:p.Ala606=
NM_001007593.3:c.1818T>A	NP_001007594.2:p.Ala606=
NM_001318087.1:c.*314T>A	NP_001305016.1:n.*314T>A
NM_001318087.2:c.*314T>A	NP_001305016.1:n.*314T>A
NM_001318088.1:c.900T>A	NP_001305017.1:p.Ala300=
NM_001318088.2:c.900T>A	NP_001305017.1:p.Ala300=
NM_001365135.1:c.1689T>A	NP_001352064.1:p.Ala563=
NM_001365135.2:c.1689T>A	NP_001352064.1:p.Ala563=
NR_027400.2:n.1834T>A
NR_027400.3:n.1774T>A
NR_134502.1:n.1373T>A
NR_134502.2:n.1313T>A
ENST00000342245.8:c.1821T>A	ENSP00000340409.4:p.Ala607=
ENST00000526280.1:c.878T>A
ENST00000527275.5:c.1818T>A	ENSP00000435350.1:p.Ala606=
ENST00000531303.5:c.*672T>A	ENSP00000432625.1:n.*672T>A
ENST00000533123.5:c.*548T>A	ENSP00000435950.1:n.*548T>A
ENST00000534405.5:c.*652T>A	ENSP00000434353.1:n.*652T>A
XM_005253075.3:c.*314T>A	XP_005253132.1:n.*314T>A
XM_011520303.1:c.1689T>A	XP_011518605.1:p.Ala563=
XM_011520304.1:c.*314T>A	XP_011518606.1:n.*314T>A
XM_011520304.2:c.*314T>A	XP_011518606.1:n.*314T>A
XR_001747940.2:n.2006T>A
XR_002957158.1:n.2188T>A