Canonical Allele Identifier: CA2723066389

Gene: SMPD1

Linked Data

• dbSNP Id: rs143612450

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392165C>A , CM000673.2:g.6392165C>A	GRCh38
NC_000011.9:g.6413395C>A , CM000673.1:g.6413395C>A	GRCh37
NC_000011.8:g.6369971C>A	NCBI36
NG_011780.1:g.6741C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+9C>A MANE Select	ENSP00000340409.4:n.1091+9C>A
ENST00000342245.8:c.1091+9C>A	ENSP00000340409.4:n.1091+9C>A
ENST00000526280.1:c.289C>A
ENST00000527275.5:c.1088+9C>A	ENSP00000435350.1:n.1088+9C>A
ENST00000531303.5:c.438+662C>A	ENSP00000432625.1:n.438+662C>A
ENST00000533123.5:c.1091+9C>A	ENSP00000435950.1:n.1091+9C>A
ENST00000534405.5:c.1100C>A	ENSP00000434353.1:p.Ser367Ter
NM_000543.4:c.1091+9C>A	NP_000534.3:n.1091+9C>A
NM_001007593.2:c.1088+9C>A	NP_001007594.2:n.1088+9C>A
XM_005253075.3:c.1091+9C>A	XP_005253132.1:n.1091+9C>A
XM_011520303.1:c.1100C>A	XP_011518605.1:p.Ser367Ter
XM_011520304.1:c.1100C>A	XP_011518606.1:p.Ser367Ter
XR_930886.1:n.1398C>A
NM_001318087.1:c.1091+9C>A	NP_001305016.1:n.1091+9C>A
NM_001318088.1:c.139C>A	NP_001305017.1:p.Arg47Ser
NM_001365135.1:c.1100C>A	NP_001352064.1:p.Ser367Ter
NR_027400.2:n.1276+9C>A
NR_134502.1:n.623+662C>A
XM_011520304.2:c.1100C>A	XP_011518606.1:p.Ser367Ter
XR_001747940.2:n.1225C>A
XR_002957158.1:n.1225C>A
NM_000543.5:c.1091+9C>A MANE Select	NP_000534.3:n.1091+9C>A
NM_001007593.3:c.1088+9C>A	NP_001007594.2:n.1088+9C>A
NM_001318087.2:c.1091+9C>A	NP_001305016.1:n.1091+9C>A
NM_001318088.2:c.139C>A	NP_001305017.1:p.Arg47Ser
NM_001365135.2:c.1100C>A	NP_001352064.1:p.Ser367Ter
NR_027400.3:n.1216+9C>A
NR_134502.2:n.563+662C>A