Canonical Allele Identifier: CA1950147766

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393223G= , CM000673.2:g.6393223G=	GRCh38
NC_000011.9:g.6414453G= , CM000673.1:g.6414453G=	GRCh37
NC_000011.8:g.6371029G=	NCBI36
NG_011780.1:g.7799G=
NG_029615.1:g.31192C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1099G= MANE Select	ENSP00000340409.4:p.Gly367=
ENST00000342245.8:c.1099G=	ENSP00000340409.4:p.Gly367=
ENST00000526280.1:c.321-394G=
ENST00000527275.5:c.1096G=	ENSP00000435350.1:p.Gly366=
ENST00000531303.5:c.446G=	ENSP00000432625.1:p.Gly149=
ENST00000533123.5:c.1092-394G=	ENSP00000435950.1:n.1092-394G=
ENST00000534405.5:c.1139G=	ENSP00000434353.1:p.Gly380=
NM_000543.4:c.1099G=	NP_000534.3:p.Gly367=
NM_001007593.2:c.1096G=	NP_001007594.2:p.Gly366=
XM_005253075.3:c.1099G=	XP_005253132.1:p.Gly367=
XM_011520303.1:c.1132-394G=	XP_011518605.1:n.1132-394G=
XM_011520304.1:c.1132-394G=	XP_011518606.1:n.1132-394G=
XR_930886.1:n.1437G=
NM_001318087.1:c.1099G=	NP_001305016.1:p.Gly367=
NM_001318088.1:c.178G=	NP_001305017.1:p.Gly60=
NM_001365135.1:c.1132-394G=	NP_001352064.1:n.1132-394G=
NR_027400.2:n.1277-394G=
NR_134502.1:n.631G=
XM_011520304.2:c.1132-394G=	XP_011518606.1:n.1132-394G=
XR_001747940.2:n.1264G=
XR_002957158.1:n.1264G=
NM_000543.5:c.1099G= MANE Select	NP_000534.3:p.Gly367=
NM_001007593.3:c.1096G=	NP_001007594.2:p.Gly366=
NM_001318087.2:c.1099G=	NP_001305016.1:p.Gly367=
NM_001318088.2:c.178G=	NP_001305017.1:p.Gly60=
NM_001365135.2:c.1132-394G=	NP_001352064.1:n.1132-394G=
NR_027400.3:n.1217-394G=
NR_134502.2:n.571G=