Canonical Allele Identifier: CA1950148919

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393938T= , CM000673.2:g.6393938T=	GRCh38
NC_000011.9:g.6415168T= , CM000673.1:g.6415168T=	GRCh37
NC_000011.8:g.6371744T=	NCBI36
NG_011780.1:g.8514T=
NG_029615.1:g.30477A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1383T= MANE Select	ENSP00000340409.4:p.His461=
ENST00000342245.8:c.1383T=	ENSP00000340409.4:p.His461=
ENST00000526280.1:c.440T=
ENST00000527275.5:c.1380T=	ENSP00000435350.1:p.His460=
ENST00000531303.5:c.*214T=	ENSP00000432625.1:n.*214T=
ENST00000531336.1:n.215T=
ENST00000532367.1:n.219T=
ENST00000533123.5:c.*110T=	ENSP00000435950.1:n.*110T=
ENST00000534405.5:c.*214T=	ENSP00000434353.1:n.*214T=
NM_000543.4:c.1383T=	NP_000534.3:p.His461=
NM_001007593.2:c.1380T=	NP_001007594.2:p.His460=
XM_005253075.3:c.1383T=	XP_005253132.1:p.His461=
XM_011520303.1:c.1251T=	XP_011518605.1:p.His417=
XM_011520304.1:c.1251T=	XP_011518606.1:p.His417=
XR_930886.1:n.1721T=
NM_001318087.1:c.1383T=	NP_001305016.1:p.His461=
NM_001318088.1:c.462T=	NP_001305017.1:p.His154=
NM_001365135.1:c.1251T=	NP_001352064.1:p.His417=
NR_027400.2:n.1396T=
NR_134502.1:n.915T=
XM_011520304.2:c.1251T=	XP_011518606.1:p.His417=
XR_001747940.2:n.1548T=
XR_002957158.1:n.1750T=
NM_000543.5:c.1383T= MANE Select	NP_000534.3:p.His461=
NM_001007593.3:c.1380T=	NP_001007594.2:p.His460=
NM_001318087.2:c.1383T=	NP_001305016.1:p.His461=
NM_001318088.2:c.462T=	NP_001305017.1:p.His154=
NM_001365135.2:c.1251T=	NP_001352064.1:p.His417=
NR_027400.3:n.1336T=
NR_134502.2:n.855T=