Canonical Allele Identifier: CA221146
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs398123476

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393975_6393976del , CM000673.2:g.6393975_6393976del GRCh38
NC_000011.9:g.6415205_6415206del , CM000673.1:g.6415205_6415206del GRCh37
NC_000011.8:g.6371781_6371782del NCBI36
NG_011780.1:g.8551_8552del
NG_029615.1:g.30441_30442del

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1420_1421del MANE Select ENSP00000340409.4:p.Leu474GlufsTer20
ENST00000342245.8:c.1420_1421del ENSP00000340409.4:p.Leu474GlufsTer20
ENST00000526280.1:c.477_478del
ENST00000527275.5:c.1417_1418del ENSP00000435350.1:p.Leu473GlufsTer20
ENST00000531303.5:c.*251_*252del ENSP00000432625.1:n.*251_*252del
ENST00000531336.1:n.252_253del
ENST00000532367.1:n.256_257del
ENST00000533123.5:c.*147_*148del ENSP00000435950.1:n.*147_*148del
ENST00000534405.5:c.*251_*252del ENSP00000434353.1:n.*251_*252del
NM_000543.4:c.1420_1421del NP_000534.3:p.Leu474GlufsTer20
NM_001007593.2:c.1417_1418del NP_001007594.2:p.Leu473GlufsTer20
XM_005253075.3:c.1420_1421del XP_005253132.1:p.Leu474GlufsTer20
XM_011520303.1:c.1288_1289del XP_011518605.1:p.Leu430GlufsTer20
XM_011520304.1:c.1288_1289del XP_011518606.1:p.Leu430GlufsTer20
XR_930886.1:n.1758_1759del
NM_001318087.1:c.1420_1421del NP_001305016.1:p.Leu474GlufsTer20
NM_001318088.1:c.499_500del NP_001305017.1:p.Leu167GlufsTer20
NM_001365135.1:c.1288_1289del NP_001352064.1:p.Leu430GlufsTer20
NR_027400.2:n.1433_1434del
NR_134502.1:n.952_953del
XM_011520304.2:c.1288_1289del XP_011518606.1:p.Leu430GlufsTer20
XR_001747940.2:n.1585_1586del
XR_002957158.1:n.1787_1788del
NM_000543.5:c.1420_1421del MANE Select NP_000534.3:p.Leu474GlufsTer20
NM_001007593.3:c.1417_1418del NP_001007594.2:p.Leu473GlufsTer20
NM_001318087.2:c.1420_1421del NP_001305016.1:p.Leu474GlufsTer20
NM_001318088.2:c.499_500del NP_001305017.1:p.Leu167GlufsTer20
NM_001365135.2:c.1288_1289del NP_001352064.1:p.Leu430GlufsTer20
NR_027400.3:n.1373_1374del
NR_134502.2:n.892_893del