Canonical Allele Identifier: CA16041488
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371347
ClinVar RCV Id: RCV000411708
dbSNP Id: rs1057517200

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394208_6394209del , CM000673.2:g.6394208_6394209del GRCh38
NC_000011.9:g.6415438_6415439del , CM000673.1:g.6415438_6415439del GRCh37
NC_000011.8:g.6372014_6372015del NCBI36
NG_011780.1:g.8784_8785del
NG_029615.1:g.30210_30211del

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1497_1498del MANE Select ENSP00000340409.4:p.Tyr500ProfsTer17
ENST00000342245.8:c.1497_1498del ENSP00000340409.4:p.Tyr500ProfsTer17
ENST00000526280.1:c.554_555del
ENST00000527275.5:c.1494_1495del ENSP00000435350.1:p.Tyr499ProfsTer17
ENST00000531303.5:c.*348_*349del ENSP00000432625.1:n.*348_*349del
ENST00000531336.1:n.485_486del
ENST00000533123.5:c.*224_*225del ENSP00000435950.1:n.*224_*225del
ENST00000534405.5:c.*328_*329del ENSP00000434353.1:n.*328_*329del
NM_000543.4:c.1497_1498del NP_000534.3:p.Tyr500ProfsTer17
NM_001007593.2:c.1494_1495del NP_001007594.2:p.Tyr499ProfsTer17
XM_005253075.3:c.1517_1518del XP_005253132.1:p.Cys506TyrfsTer?
XM_011520303.1:c.1365_1366del XP_011518605.1:p.Tyr456ProfsTer17
XM_011520304.1:c.1385_1386del XP_011518606.1:p.Cys462TyrfsTer?
NM_001318087.1:c.1517_1518del NP_001305016.1:p.Cys506TyrfsTer?
NM_001318088.1:c.576_577del NP_001305017.1:p.Tyr193ProfsTer17
NM_001365135.1:c.1365_1366del NP_001352064.1:p.Tyr456ProfsTer17
NR_027400.2:n.1510_1511del
NR_134502.1:n.1049_1050del
XM_011520304.2:c.1385_1386del XP_011518606.1:p.Cys462TyrfsTer?
XR_001747940.2:n.1682_1683del
XR_002957158.1:n.1864_1865del
NM_000543.5:c.1497_1498del MANE Select NP_000534.3:p.Tyr500ProfsTer17
NM_001007593.3:c.1494_1495del NP_001007594.2:p.Tyr499ProfsTer17
NM_001318087.2:c.1517_1518del NP_001305016.1:p.Cys506TyrfsTer?
NM_001318088.2:c.576_577del NP_001305017.1:p.Tyr193ProfsTer17
NM_001365135.2:c.1365_1366del NP_001352064.1:p.Tyr456ProfsTer17
NR_027400.3:n.1450_1451del
NR_134502.2:n.989_990del