Canonical Allele Identifier: CA2574738556
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390961_6390967dup , CM000673.2:g.6390961_6390967dup GRCh38
NC_000011.9:g.6412191_6412197dup , CM000673.1:g.6412191_6412197dup GRCh37
NC_000011.8:g.6368767_6368773dup NCBI36
NG_011780.1:g.5537_5543dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.318+45_318+51dup MANE Select ENSP00000340409.4:n.318+45_318+51dup
ENST00000342245.8:c.318+45_318+51dup ENSP00000340409.4:n.318+45_318+51dup
ENST00000527275.5:c.318+45_318+51dup ENSP00000435350.1:n.318+45_318+51dup
ENST00000530395.1:c.-96+322_-96+328dup ENSP00000431479.1:n.-96+322_-96+328dup
ENST00000531303.5:c.318+45_318+51dup ENSP00000432625.1:n.318+45_318+51dup
ENST00000533123.5:c.318+45_318+51dup ENSP00000435950.1:n.318+45_318+51dup
ENST00000533196.1:n.374+148_374+154dup
ENST00000534405.5:c.318+45_318+51dup ENSP00000434353.1:n.318+45_318+51dup
NM_000543.4:c.318+45_318+51dup NP_000534.3:n.318+45_318+51dup
NM_001007593.2:c.318+45_318+51dup NP_001007594.2:n.318+45_318+51dup
XM_005253075.3:c.318+45_318+51dup XP_005253132.1:n.318+45_318+51dup
XM_011520303.1:c.318+45_318+51dup XP_011518605.1:n.318+45_318+51dup
XM_011520304.1:c.318+45_318+51dup XP_011518606.1:n.318+45_318+51dup
XR_930886.1:n.616+45_616+51dup
NM_001318087.1:c.318+45_318+51dup NP_001305016.1:n.318+45_318+51dup
NM_001318088.1:c.-644+45_-644+51dup NP_001305017.1:n.-644+45_-644+51dup
NM_001365135.1:c.318+45_318+51dup NP_001352064.1:n.318+45_318+51dup
NR_027400.2:n.503+45_503+51dup
NR_134502.1:n.503+45_503+51dup
XM_011520304.2:c.318+45_318+51dup XP_011518606.1:n.318+45_318+51dup
XR_001747940.2:n.443+45_443+51dup
XR_002957158.1:n.443+45_443+51dup
NM_000543.5:c.318+45_318+51dup MANE Select NP_000534.3:n.318+45_318+51dup
NM_001007593.3:c.318+45_318+51dup NP_001007594.2:n.318+45_318+51dup
NM_001318087.2:c.318+45_318+51dup NP_001305016.1:n.318+45_318+51dup
NM_001318088.2:c.-644+45_-644+51dup NP_001305017.1:n.-644+45_-644+51dup
NM_001365135.2:c.318+45_318+51dup NP_001352064.1:n.318+45_318+51dup
NR_027400.3:n.443+45_443+51dup
NR_134502.2:n.443+45_443+51dup