Canonical Allele Identifier: CA1950148443

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393644G= , CM000673.2:g.6393644G=	GRCh38
NC_000011.9:g.6414874G= , CM000673.1:g.6414874G=	GRCh37
NC_000011.8:g.6371450G=	NCBI36
NG_011780.1:g.8220G=
NG_029615.1:g.30771C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1291G= MANE Select	ENSP00000340409.4:p.Gly431=
ENST00000342245.8:c.1291G=	ENSP00000340409.4:p.Gly431=
ENST00000526280.1:c.348G=
ENST00000527275.5:c.1288G=	ENSP00000435350.1:p.Gly430=
ENST00000531303.5:c.*122G=	ENSP00000432625.1:n.*122G=
ENST00000531336.1:n.123G=
ENST00000532367.1:n.127G=
ENST00000533123.5:c.*18G=	ENSP00000435950.1:n.*18G=
ENST00000534405.5:c.*122G=	ENSP00000434353.1:n.*122G=
NM_000543.4:c.1291G=	NP_000534.3:p.Gly431=
NM_001007593.2:c.1288G=	NP_001007594.2:p.Gly430=
XM_005253075.3:c.1291G=	XP_005253132.1:p.Gly431=
XM_011520303.1:c.1159G=	XP_011518605.1:p.Gly387=
XM_011520304.1:c.1159G=	XP_011518606.1:p.Gly387=
XR_930886.1:n.1629G=
NM_001318087.1:c.1291G=	NP_001305016.1:p.Gly431=
NM_001318088.1:c.370G=	NP_001305017.1:p.Gly124=
NM_001365135.1:c.1159G=	NP_001352064.1:p.Gly387=
NR_027400.2:n.1304G=
NR_134502.1:n.823G=
XM_011520304.2:c.1159G=	XP_011518606.1:p.Gly387=
XR_001747940.2:n.1456G=
XR_002957158.1:n.1456G=
NM_000543.5:c.1291G= MANE Select	NP_000534.3:p.Gly431=
NM_001007593.3:c.1288G=	NP_001007594.2:p.Gly430=
NM_001318087.2:c.1291G=	NP_001305016.1:p.Gly431=
NM_001318088.2:c.370G=	NP_001305017.1:p.Gly124=
NM_001365135.2:c.1159G=	NP_001352064.1:p.Gly387=
NR_027400.3:n.1244G=
NR_134502.2:n.763G=