Canonical Allele Identifier: CA379374837
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 992704
ClinVar RCV Id: RCV001281420
dbSNP Id: rs1402734026
gnomAD v3: 11-6393916-C-A
gnomAD v4: 11-6393916-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393916C>A , CM000673.2:g.6393916C>A GRCh38
NC_000011.9:g.6415146C>A , CM000673.1:g.6415146C>A GRCh37
NC_000011.8:g.6371722C>A NCBI36
NG_011780.1:g.8492C>A
NG_029615.1:g.30499G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1361C>A MANE Select ENSP00000340409.4:p.Ala454Asp
ENST00000342245.8:c.1361C>A ENSP00000340409.4:p.Ala454Asp
ENST00000526280.1:c.418C>A
ENST00000527275.5:c.1358C>A ENSP00000435350.1:p.Ala453Asp
ENST00000531303.5:c.*192C>A ENSP00000432625.1:n.*192C>A
ENST00000531336.1:n.193C>A
ENST00000532367.1:n.197C>A
ENST00000533123.5:c.*88C>A ENSP00000435950.1:n.*88C>A
ENST00000534405.5:c.*192C>A ENSP00000434353.1:n.*192C>A
NM_000543.4:c.1361C>A NP_000534.3:p.Ala454Asp
NM_001007593.2:c.1358C>A NP_001007594.2:p.Ala453Asp
XM_005253075.3:c.1361C>A XP_005253132.1:p.Ala454Asp
XM_011520303.1:c.1229C>A XP_011518605.1:p.Ala410Asp
XM_011520304.1:c.1229C>A XP_011518606.1:p.Ala410Asp
XR_930886.1:n.1699C>A
NM_001318087.1:c.1361C>A NP_001305016.1:p.Ala454Asp
NM_001318088.1:c.440C>A NP_001305017.1:p.Ala147Asp
NM_001365135.1:c.1229C>A NP_001352064.1:p.Ala410Asp
NR_027400.2:n.1374C>A
NR_134502.1:n.893C>A
XM_011520304.2:c.1229C>A XP_011518606.1:p.Ala410Asp
XR_001747940.2:n.1526C>A
XR_002957158.1:n.1728C>A
NM_000543.5:c.1361C>A MANE Select NP_000534.3:p.Ala454Asp
NM_001007593.3:c.1358C>A NP_001007594.2:p.Ala453Asp
NM_001318087.2:c.1361C>A NP_001305016.1:p.Ala454Asp
NM_001318088.2:c.440C>A NP_001305017.1:p.Ala147Asp
NM_001365135.2:c.1229C>A NP_001352064.1:p.Ala410Asp
NR_027400.3:n.1314C>A
NR_134502.2:n.833C>A