Canonical Allele Identifier: CA379374417
Gene: SMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393662T>A , CM000673.2:g.6393662T>A GRCh38
NC_000011.9:g.6414892T>A , CM000673.1:g.6414892T>A GRCh37
NC_000011.8:g.6371468T>A NCBI36
NG_011780.1:g.8238T>A
NG_029615.1:g.30753A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1309T>A MANE Select ENSP00000340409.4:p.Trp437Arg
ENST00000342245.8:c.1309T>A ENSP00000340409.4:p.Trp437Arg
ENST00000526280.1:c.366T>A
ENST00000527275.5:c.1306T>A ENSP00000435350.1:p.Trp436Arg
ENST00000531303.5:c.*140T>A ENSP00000432625.1:n.*140T>A
ENST00000531336.1:n.141T>A
ENST00000532367.1:n.145T>A
ENST00000533123.5:c.*36T>A ENSP00000435950.1:n.*36T>A
ENST00000534405.5:c.*140T>A ENSP00000434353.1:n.*140T>A
NM_000543.4:c.1309T>A NP_000534.3:p.Trp437Arg
NM_001007593.2:c.1306T>A NP_001007594.2:p.Trp436Arg
XM_005253075.3:c.1309T>A XP_005253132.1:p.Trp437Arg
XM_011520303.1:c.1177T>A XP_011518605.1:p.Trp393Arg
XM_011520304.1:c.1177T>A XP_011518606.1:p.Trp393Arg
XR_930886.1:n.1647T>A
NM_001318087.1:c.1309T>A NP_001305016.1:p.Trp437Arg
NM_001318088.1:c.388T>A NP_001305017.1:p.Trp130Arg
NM_001365135.1:c.1177T>A NP_001352064.1:p.Trp393Arg
NR_027400.2:n.1322T>A
NR_134502.1:n.841T>A
XM_011520304.2:c.1177T>A XP_011518606.1:p.Trp393Arg
XR_001747940.2:n.1474T>A
XR_002957158.1:n.1474T>A
NM_000543.5:c.1309T>A MANE Select NP_000534.3:p.Trp437Arg
NM_001007593.3:c.1306T>A NP_001007594.2:p.Trp436Arg
NM_001318087.2:c.1309T>A NP_001305016.1:p.Trp437Arg
NM_001318088.2:c.388T>A NP_001305017.1:p.Trp130Arg
NM_001365135.2:c.1177T>A NP_001352064.1:p.Trp393Arg
NR_027400.3:n.1262T>A
NR_134502.2:n.781T>A