Canonical Allele Identifier: CA1139661811
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 992703
ClinVar RCV Id: RCV001281419
dbSNP Id: rs1848042860

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393649_6393650del , CM000673.2:g.6393649_6393650del GRCh38
NC_000011.9:g.6414879_6414880del , CM000673.1:g.6414879_6414880del GRCh37
NC_000011.8:g.6371455_6371456del NCBI36
NG_011780.1:g.8225_8226del
NG_029615.1:g.30765_30766del

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1296_1297del MANE Select ENSP00000340409.4:p.His432GlnfsTer17
ENST00000342245.8:c.1296_1297del ENSP00000340409.4:p.His432GlnfsTer17
ENST00000526280.1:c.353_354del
ENST00000527275.5:c.1293_1294del ENSP00000435350.1:p.His431GlnfsTer17
ENST00000531303.5:c.*127_*128del ENSP00000432625.1:n.*127_*128del
ENST00000531336.1:n.128_129del
ENST00000532367.1:n.132_133del
ENST00000533123.5:c.*23_*24del ENSP00000435950.1:n.*23_*24del
ENST00000534405.5:c.*127_*128del ENSP00000434353.1:n.*127_*128del
NM_000543.4:c.1296_1297del NP_000534.3:p.His432GlnfsTer17
NM_001007593.2:c.1293_1294del NP_001007594.2:p.His431GlnfsTer17
XM_005253075.3:c.1296_1297del XP_005253132.1:p.His432GlnfsTer17
XM_011520303.1:c.1164_1165del XP_011518605.1:p.His388GlnfsTer17
XM_011520304.1:c.1164_1165del XP_011518606.1:p.His388GlnfsTer17
XR_930886.1:n.1634_1635del
NM_001318087.1:c.1296_1297del NP_001305016.1:p.His432GlnfsTer17
NM_001318088.1:c.375_376del NP_001305017.1:p.His125GlnfsTer17
NM_001365135.1:c.1164_1165del NP_001352064.1:p.His388GlnfsTer17
NR_027400.2:n.1309_1310del
NR_134502.1:n.828_829del
XM_011520304.2:c.1164_1165del XP_011518606.1:p.His388GlnfsTer17
XR_001747940.2:n.1461_1462del
XR_002957158.1:n.1461_1462del
NM_000543.5:c.1296_1297del MANE Select NP_000534.3:p.His432GlnfsTer17
NM_001007593.3:c.1293_1294del NP_001007594.2:p.His431GlnfsTer17
NM_001318087.2:c.1296_1297del NP_001305016.1:p.His432GlnfsTer17
NM_001318088.2:c.375_376del NP_001305017.1:p.His125GlnfsTer17
NM_001365135.2:c.1164_1165del NP_001352064.1:p.His388GlnfsTer17
NR_027400.3:n.1249_1250del
NR_134502.2:n.768_769del