Canonical Allele Identifier: CA1139661809
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 992694
ClinVar RCV Id: RCV001281410
dbSNP Id: rs387906289

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6392061dup , CM000673.2:g.6392061dup GRCh38
NC_000011.9:g.6413291dup , CM000673.1:g.6413291dup GRCh37
NC_000011.8:g.6369867dup NCBI36
NG_011780.1:g.6637dup

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.996dup MANE Select ENSP00000340409.4:p.Phe333LeufsTer3
ENST00000342245.8:c.996dup ENSP00000340409.4:p.Phe333LeufsTer3
ENST00000526280.1:c.185dup
ENST00000527275.5:c.993dup ENSP00000435350.1:p.Phe332LeufsTer3
ENST00000531303.5:c.438+558dup ENSP00000432625.1:n.438+558dup
ENST00000533123.5:c.996dup ENSP00000435950.1:p.Phe333LeufsTer3
ENST00000534405.5:c.996dup ENSP00000434353.1:p.Phe333LeufsTer3
NM_000543.4:c.996dup NP_000534.3:p.Phe333LeufsTer3
NM_001007593.2:c.993dup NP_001007594.2:p.Phe332LeufsTer3
XM_005253075.3:c.996dup XP_005253132.1:p.Phe333LeufsTer3
XM_011520303.1:c.996dup XP_011518605.1:p.Phe333LeufsTer3
XM_011520304.1:c.996dup XP_011518606.1:p.Phe333LeufsTer3
XR_930886.1:n.1294dup
NM_001318087.1:c.996dup NP_001305016.1:p.Phe333LeufsTer3
NM_001318088.1:c.35dup NP_001305017.1:p.Ser13PhefsTer?
NM_001365135.1:c.996dup NP_001352064.1:p.Phe333LeufsTer3
NR_027400.2:n.1181dup
NR_134502.1:n.623+558dup
XM_011520304.2:c.996dup XP_011518606.1:p.Phe333LeufsTer3
XR_001747940.2:n.1121dup
XR_002957158.1:n.1121dup
NM_000543.5:c.996dup MANE Select NP_000534.3:p.Phe333LeufsTer3
NM_001007593.3:c.993dup NP_001007594.2:p.Phe332LeufsTer3
NM_001318087.2:c.996dup NP_001305016.1:p.Phe333LeufsTer3
NM_001318088.2:c.35dup NP_001305017.1:p.Ser13PhefsTer?
NM_001365135.2:c.996dup NP_001352064.1:p.Phe333LeufsTer3
NR_027400.3:n.1121dup
NR_134502.2:n.563+558dup