Canonical Allele Identifier: CA1950148453
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393648_6393650delinsACT , CM000673.2:g.6393648_6393650delinsACT GRCh38
NC_000011.9:g.6414878_6414880delinsACT , CM000673.1:g.6414878_6414880delinsACT GRCh37
NC_000011.8:g.6371454_6371456delinsACT NCBI36
NG_011780.1:g.8224_8226delinsACT
NG_029615.1:g.30765_30767delinsAGT

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1295_1297delinsACT MANE Select ENSP00000340409.4:p.His432=
ENST00000342245.8:c.1295_1297delinsACT ENSP00000340409.4:p.His432=
ENST00000526280.1:c.352_354delinsACT
ENST00000527275.5:c.1292_1294delinsACT ENSP00000435350.1:p.His431=
ENST00000531303.5:c.*126_*128delinsACT ENSP00000432625.1:n.*126_*128delinsACT
ENST00000531336.1:n.127_129delinsACT
ENST00000532367.1:n.131_133delinsACT
ENST00000533123.5:c.*22_*24delinsACT ENSP00000435950.1:n.*22_*24delinsACT
ENST00000534405.5:c.*126_*128delinsACT ENSP00000434353.1:n.*126_*128delinsACT
NM_000543.4:c.1295_1297delinsACT NP_000534.3:p.His432=
NM_001007593.2:c.1292_1294delinsACT NP_001007594.2:p.His431=
XM_005253075.3:c.1295_1297delinsACT XP_005253132.1:p.His432=
XM_011520303.1:c.1163_1165delinsACT XP_011518605.1:p.His388=
XM_011520304.1:c.1163_1165delinsACT XP_011518606.1:p.His388=
XR_930886.1:n.1633_1635delinsACT
NM_001318087.1:c.1295_1297delinsACT NP_001305016.1:p.His432=
NM_001318088.1:c.374_376delinsACT NP_001305017.1:p.His125=
NM_001365135.1:c.1163_1165delinsACT NP_001352064.1:p.His388=
NR_027400.2:n.1308_1310delinsACT
NR_134502.1:n.827_829delinsACT
XM_011520304.2:c.1163_1165delinsACT XP_011518606.1:p.His388=
XR_001747940.2:n.1460_1462delinsACT
XR_002957158.1:n.1460_1462delinsACT
NM_000543.5:c.1295_1297delinsACT MANE Select NP_000534.3:p.His432=
NM_001007593.3:c.1292_1294delinsACT NP_001007594.2:p.His431=
NM_001318087.2:c.1295_1297delinsACT NP_001305016.1:p.His432=
NM_001318088.2:c.374_376delinsACT NP_001305017.1:p.His125=
NM_001365135.2:c.1163_1165delinsACT NP_001352064.1:p.His388=
NR_027400.3:n.1248_1250delinsACT
NR_134502.2:n.767_769delinsACT