Canonical Allele Identifier: CA1950149394

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394231C= , CM000673.2:g.6394231C=	GRCh38
NC_000011.9:g.6415461C= , CM000673.1:g.6415461C=	GRCh37
NC_000011.8:g.6372037C=	NCBI36
NG_011780.1:g.8807C=
NG_029615.1:g.30184G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1520C= MANE Select	ENSP00000340409.4:p.Ser507=
ENST00000342245.8:c.1520C=	ENSP00000340409.4:p.Ser507=
ENST00000526280.1:c.577C=
ENST00000527275.5:c.1517C=	ENSP00000435350.1:p.Ser506=
ENST00000531303.5:c.*371C=	ENSP00000432625.1:n.*371C=
ENST00000531336.1:n.508C=
ENST00000533123.5:c.*247C=	ENSP00000435950.1:n.*247C=
ENST00000534405.5:c.*351C=	ENSP00000434353.1:n.*351C=
NM_000543.4:c.1520C=	NP_000534.3:p.Ser507=
NM_001007593.2:c.1517C=	NP_001007594.2:p.Ser506=
XM_005253075.3:c.*13C=	XP_005253132.1:n.*13C=
XM_011520303.1:c.1388C=	XP_011518605.1:p.Ser463=
XM_011520304.1:c.*13C=	XP_011518606.1:n.*13C=
NM_001318087.1:c.*13C=	NP_001305016.1:n.*13C=
NM_001318088.1:c.599C=	NP_001305017.1:p.Ser200=
NM_001365135.1:c.1388C=	NP_001352064.1:p.Ser463=
NR_027400.2:n.1533C=
NR_134502.1:n.1072C=
XM_011520304.2:c.*13C=	XP_011518606.1:n.*13C=
XR_001747940.2:n.1705C=
XR_002957158.1:n.1887C=
NM_000543.5:c.1520C= MANE Select	NP_000534.3:p.Ser507=
NM_001007593.3:c.1517C=	NP_001007594.2:p.Ser506=
NM_001318087.2:c.*13C=	NP_001305016.1:n.*13C=
NM_001318088.2:c.599C=	NP_001305017.1:p.Ser200=
NM_001365135.2:c.1388C=	NP_001352064.1:p.Ser463=
NR_027400.3:n.1473C=
NR_134502.2:n.1012C=