Canonical Allele Identifier: CA1950149047

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394006C= , CM000673.2:g.6394006C=	GRCh38
NC_000011.9:g.6415236C= , CM000673.1:g.6415236C=	GRCh37
NC_000011.8:g.6371812C=	NCBI36
NG_011780.1:g.8582C=
NG_029615.1:g.30409G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1451C= MANE Select	NP_000534.3:p.Ala484=
ENST00000342245.9:c.1451C= MANE Select	ENSP00000340409.4:p.Ala484=
NM_000543.4:c.1451C=	NP_000534.3:p.Ala484=
NM_001007593.2:c.1448C=	NP_001007594.2:p.Ala483=
NM_001007593.3:c.1448C=	NP_001007594.2:p.Ala483=
NM_001318087.1:c.1451C=	NP_001305016.1:p.Ala484=
NM_001318087.2:c.1451C=	NP_001305016.1:p.Ala484=
NM_001318088.1:c.530C=	NP_001305017.1:p.Ala177=
NM_001318088.2:c.530C=	NP_001305017.1:p.Ala177=
NM_001365135.1:c.1319C=	NP_001352064.1:p.Ala440=
NM_001365135.2:c.1319C=	NP_001352064.1:p.Ala440=
NR_027400.2:n.1464C=
NR_027400.3:n.1404C=
NR_134502.1:n.983C=
NR_134502.2:n.923C=
ENST00000342245.8:c.1451C=	ENSP00000340409.4:p.Ala484=
ENST00000526280.1:c.508C=
ENST00000527275.5:c.1448C=	ENSP00000435350.1:p.Ala483=
ENST00000531303.5:c.*282C=	ENSP00000432625.1:n.*282C=
ENST00000531336.1:n.283C=
ENST00000532367.1:n.287C=
ENST00000533123.5:c.*178C=	ENSP00000435950.1:n.*178C=
ENST00000534405.5:c.*282C=	ENSP00000434353.1:n.*282C=
XM_005253075.3:c.1451C=	XP_005253132.1:p.Ala484=
XM_011520303.1:c.1319C=	XP_011518605.1:p.Ala440=
XM_011520304.1:c.1319C=	XP_011518606.1:p.Ala440=
XM_011520304.2:c.1319C=	XP_011518606.1:p.Ala440=
XR_001747940.2:n.1616C=
XR_002957158.1:n.1818C=
XR_930886.1:n.1789C=