Canonical Allele Identifier: CA1950149659

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394336G= , CM000673.2:g.6394336G=	GRCh38
NC_000011.9:g.6415566G= , CM000673.1:g.6415566G=	GRCh37
NC_000011.8:g.6372142G=	NCBI36
NG_011780.1:g.8912G=
NG_029615.1:g.30079C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1625G= MANE Select	ENSP00000340409.4:p.Arg542=
ENST00000342245.8:c.1625G=	ENSP00000340409.4:p.Arg542=
ENST00000526280.1:c.682G=
ENST00000527275.5:c.1622G=	ENSP00000435350.1:p.Arg541=
ENST00000531303.5:c.*476G=	ENSP00000432625.1:n.*476G=
ENST00000531336.1:n.613G=
ENST00000533123.5:c.*352G=	ENSP00000435950.1:n.*352G=
ENST00000534405.5:c.*456G=	ENSP00000434353.1:n.*456G=
NM_000543.4:c.1625G=	NP_000534.3:p.Arg542=
NM_001007593.2:c.1622G=	NP_001007594.2:p.Arg541=
XM_005253075.3:c.*118G=	XP_005253132.1:n.*118G=
XM_011520303.1:c.1493G=	XP_011518605.1:p.Arg498=
XM_011520304.1:c.*118G=	XP_011518606.1:n.*118G=
NM_001318087.1:c.*118G=	NP_001305016.1:n.*118G=
NM_001318088.1:c.704G=	NP_001305017.1:p.Arg235=
NM_001365135.1:c.1493G=	NP_001352064.1:p.Arg498=
NR_027400.2:n.1638G=
NR_134502.1:n.1177G=
XM_011520304.2:c.*118G=	XP_011518606.1:n.*118G=
XR_001747940.2:n.1810G=
XR_002957158.1:n.1992G=
NM_000543.5:c.1625G= MANE Select	NP_000534.3:p.Arg542=
NM_001007593.3:c.1622G=	NP_001007594.2:p.Arg541=
NM_001318087.2:c.*118G=	NP_001305016.1:n.*118G=
NM_001318088.2:c.704G=	NP_001305017.1:p.Arg235=
NM_001365135.2:c.1493G=	NP_001352064.1:p.Arg498=
NR_027400.3:n.1578G=
NR_134502.2:n.1117G=