Canonical Allele Identifier: CA1950148347
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393579T= , CM000673.2:g.6393579T= GRCh38
NC_000011.9:g.6414809T= , CM000673.1:g.6414809T= GRCh37
NC_000011.8:g.6371385T= NCBI36
NG_011780.1:g.8155T=
NG_029615.1:g.30836A=

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1264-38T= MANE Select ENSP00000340409.4:n.1264-38T=
ENST00000342245.8:c.1264-38T= ENSP00000340409.4:n.1264-38T=
ENST00000526280.1:c.321-38T=
ENST00000527275.5:c.1261-38T= ENSP00000435350.1:n.1261-38T=
ENST00000531303.5:c.*95-38T= ENSP00000432625.1:n.*95-38T=
ENST00000531336.1:n.96-38T=
ENST00000532367.1:n.62T=
ENST00000533123.5:c.1092-38T= ENSP00000435950.1:n.1092-38T=
ENST00000534405.5:c.*95-38T= ENSP00000434353.1:n.*95-38T=
NM_000543.4:c.1264-38T= NP_000534.3:n.1264-38T=
NM_001007593.2:c.1261-38T= NP_001007594.2:n.1261-38T=
XM_005253075.3:c.1264-38T= XP_005253132.1:n.1264-38T=
XM_011520303.1:c.1132-38T= XP_011518605.1:n.1132-38T=
XM_011520304.1:c.1132-38T= XP_011518606.1:n.1132-38T=
XR_930886.1:n.1602-38T=
NM_001318087.1:c.1264-38T= NP_001305016.1:n.1264-38T=
NM_001318088.1:c.343-38T= NP_001305017.1:n.343-38T=
NM_001365135.1:c.1132-38T= NP_001352064.1:n.1132-38T=
NR_027400.2:n.1277-38T=
NR_134502.1:n.796-38T=
XM_011520304.2:c.1132-38T= XP_011518606.1:n.1132-38T=
XR_001747940.2:n.1429-38T=
XR_002957158.1:n.1429-38T=
NM_000543.5:c.1264-38T= MANE Select NP_000534.3:n.1264-38T=
NM_001007593.3:c.1261-38T= NP_001007594.2:n.1261-38T=
NM_001318087.2:c.1264-38T= NP_001305016.1:n.1264-38T=
NM_001318088.2:c.343-38T= NP_001305017.1:n.343-38T=
NM_001365135.2:c.1132-38T= NP_001352064.1:n.1132-38T=
NR_027400.3:n.1217-38T=
NR_134502.2:n.736-38T=