Canonical Allele Identifier: CA1950147981
Community Standard Title: NM_000543.5(SMPD1):c.1177T= (p.Trp393=)
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393301T= , CM000673.2:g.6393301T= GRCh38
NC_000011.9:g.6414531T= , CM000673.1:g.6414531T= GRCh37
NC_000011.8:g.6371107T= NCBI36
NG_011780.1:g.7877T=
NG_029615.1:g.31114A=

Transcript Alleles

HGVS Amino-acid Change
NM_000543.5:c.1177T= MANE Select NP_000534.3:p.Trp393=
ENST00000342245.9:c.1177T= MANE Select ENSP00000340409.4:p.Trp393=
NM_000543.4:c.1177T= NP_000534.3:p.Trp393=
NM_001007593.2:c.1174T= NP_001007594.2:p.Trp392=
NM_001007593.3:c.1174T= NP_001007594.2:p.Trp392=
NM_001318087.1:c.1177T= NP_001305016.1:p.Trp393=
NM_001318087.2:c.1177T= NP_001305016.1:p.Trp393=
NM_001318088.1:c.256T= NP_001305017.1:p.Trp86=
NM_001318088.2:c.256T= NP_001305017.1:p.Trp86=
NM_001365135.1:c.1132-316T= NP_001352064.1:n.1132-316T=
NM_001365135.2:c.1132-316T= NP_001352064.1:n.1132-316T=
NR_027400.2:n.1277-316T=
NR_027400.3:n.1217-316T=
NR_134502.1:n.709T=
NR_134502.2:n.649T=
ENST00000342245.8:c.1177T= ENSP00000340409.4:p.Trp393=
ENST00000526280.1:c.321-316T=
ENST00000527275.5:c.1174T= ENSP00000435350.1:p.Trp392=
ENST00000531303.5:c.*8T= ENSP00000432625.1:n.*8T=
ENST00000531336.1:n.9T=
ENST00000533123.5:c.1092-316T= ENSP00000435950.1:n.1092-316T=
ENST00000534405.5:c.*8T= ENSP00000434353.1:n.*8T=
XM_005253075.3:c.1177T= XP_005253132.1:p.Trp393=
XM_011520303.1:c.1132-316T= XP_011518605.1:n.1132-316T=
XM_011520304.1:c.1132-316T= XP_011518606.1:n.1132-316T=
XM_011520304.2:c.1132-316T= XP_011518606.1:n.1132-316T=
XR_001747940.2:n.1342T=
XR_002957158.1:n.1342T=
XR_930886.1:n.1515T=