Canonical Allele Identifier: CA16041473
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371029
dbSNP Id: rs1057516949

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390749_6390752del , CM000673.2:g.6390749_6390752del GRCh38
NC_000011.9:g.6411979_6411982del , CM000673.1:g.6411979_6411982del GRCh37
NC_000011.8:g.6368555_6368558del NCBI36
NG_011780.1:g.5325_5328del

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.151_154del MANE Select ENSP00000340409.4:p.Asp51LeufsTer25
ENST00000342245.8:c.151_154del ENSP00000340409.4:p.Asp51LeufsTer25
ENST00000527275.5:c.151_154del ENSP00000435350.1:p.Asp51LeufsTer25
ENST00000530395.1:c.-96+110_-96+113del ENSP00000431479.1:n.-96+110_-96+113del
ENST00000531303.5:c.151_154del ENSP00000432625.1:p.Asp51LeufsTer25
ENST00000533123.5:c.151_154del ENSP00000435950.1:p.Asp51LeufsTer25
ENST00000533196.1:n.310_313del
ENST00000534405.5:c.151_154del ENSP00000434353.1:p.Asp51LeufsTer25
NM_000543.4:c.151_154del NP_000534.3:p.Asp51LeufsTer25
NM_001007593.2:c.151_154del NP_001007594.2:p.Asp51LeufsTer25
XM_005253075.3:c.151_154del XP_005253132.1:p.Asp51LeufsTer25
XM_011520303.1:c.151_154del XP_011518605.1:p.Asp51LeufsTer25
XM_011520304.1:c.151_154del XP_011518606.1:p.Asp51LeufsTer25
XR_930886.1:n.449_452del
NM_001318087.1:c.151_154del NP_001305016.1:p.Asp51LeufsTer25
NM_001318088.1:c.-811_-808del NP_001305017.1:n.-811_-808del
NM_001365135.1:c.151_154del NP_001352064.1:p.Asp51LeufsTer25
NR_027400.2:n.336_339del
NR_134502.1:n.336_339del
XM_011520304.2:c.151_154del XP_011518606.1:p.Asp51LeufsTer25
XR_001747940.2:n.276_279del
XR_002957158.1:n.276_279del
NM_000543.5:c.151_154del MANE Select NP_000534.3:p.Asp51LeufsTer25
NM_001007593.3:c.151_154del NP_001007594.2:p.Asp51LeufsTer25
NM_001318087.2:c.151_154del NP_001305016.1:p.Asp51LeufsTer25
NM_001318088.2:c.-811_-808del NP_001305017.1:n.-811_-808del
NM_001365135.2:c.151_154del NP_001352064.1:p.Asp51LeufsTer25
NR_027400.3:n.276_279del
NR_134502.2:n.276_279del