Canonical Allele Identifier: CA252525
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2993
dbSNP Id: rs120074127
gnomAD v2: 11-6414910-C-T
gnomAD v3: 11-6393680-C-T
gnomAD v4: 11-6393680-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393680C>T , CM000673.2:g.6393680C>T GRCh38
NC_000011.9:g.6414910C>T , CM000673.1:g.6414910C>T GRCh37
NC_000011.8:g.6371486C>T NCBI36
NG_011780.1:g.8256C>T
NG_029615.1:g.30735G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1327C>T MANE Select ENSP00000340409.4:p.Arg443Ter
ENST00000342245.8:c.1327C>T ENSP00000340409.4:p.Arg443Ter
ENST00000526280.1:c.384C>T
ENST00000527275.5:c.1324C>T ENSP00000435350.1:p.Arg442Ter
ENST00000531303.5:c.*158C>T ENSP00000432625.1:n.*158C>T
ENST00000531336.1:n.159C>T
ENST00000532367.1:n.163C>T
ENST00000533123.5:c.*54C>T ENSP00000435950.1:n.*54C>T
ENST00000534405.5:c.*158C>T ENSP00000434353.1:n.*158C>T
NM_000543.4:c.1327C>T NP_000534.3:p.Arg443Ter
NM_001007593.2:c.1324C>T NP_001007594.2:p.Arg442Ter
XM_005253075.3:c.1327C>T XP_005253132.1:p.Arg443Ter
XM_011520303.1:c.1195C>T XP_011518605.1:p.Arg399Ter
XM_011520304.1:c.1195C>T XP_011518606.1:p.Arg399Ter
XR_930886.1:n.1665C>T
NM_001318087.1:c.1327C>T NP_001305016.1:p.Arg443Ter
NM_001318088.1:c.406C>T NP_001305017.1:p.Arg136Ter
NM_001365135.1:c.1195C>T NP_001352064.1:p.Arg399Ter
NR_027400.2:n.1340C>T
NR_134502.1:n.859C>T
XM_011520304.2:c.1195C>T XP_011518606.1:p.Arg399Ter
XR_001747940.2:n.1492C>T
XR_002957158.1:n.1492C>T
NM_000543.5:c.1327C>T MANE Select NP_000534.3:p.Arg443Ter
NM_001007593.3:c.1324C>T NP_001007594.2:p.Arg442Ter
NM_001318087.2:c.1327C>T NP_001305016.1:p.Arg443Ter
NM_001318088.2:c.406C>T NP_001305017.1:p.Arg136Ter
NM_001365135.2:c.1195C>T NP_001352064.1:p.Arg399Ter
NR_027400.3:n.1280C>T
NR_134502.2:n.799C>T