Canonical Allele Identifier: CA1950148362
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6393601T= , CM000673.2:g.6393601T= GRCh38
NC_000011.9:g.6414831T= , CM000673.1:g.6414831T= GRCh37
NC_000011.8:g.6371407T= NCBI36
NG_011780.1:g.8177T=
NG_029615.1:g.30814A=

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.1264-16T= MANE Select ENSP00000340409.4:p.=
ENST00000342245.8:c.1264-16T= ENSP00000340409.4:p.=
ENST00000526280.1:n.321-16T=
ENST00000527275.5:c.1261-16T= ENSP00000435350.1:p.=
ENST00000531303.5:c.*95-16T= ENSP00000432625.1:p.=
ENST00000531336.1:n.96-16T=
ENST00000532367.1:n.84T=
ENST00000533123.5:c.1092-16T= ENSP00000435950.1:p.=
ENST00000534405.5:c.*95-16T= ENSP00000434353.1:p.=
NM_000543.4:c.1264-16T= NP_000534.3:p.=
NM_001007593.2:c.1261-16T= NP_001007594.2:p.=
XM_005253075.3:c.1264-16T= XP_005253132.1:p.=
XM_011520303.1:c.1132-16T= XP_011518605.1:p.=
XM_011520304.1:c.1132-16T= XP_011518606.1:p.=
XR_930886.1:n.1602-16T=
NM_001318087.1:c.1264-16T= NP_001305016.1:p.=
NM_001318088.1:c.343-16T= NP_001305017.1:p.=
NM_001365135.1:c.1132-16T= NP_001352064.1:p.=
NR_027400.2:n.1277-16T=
NR_134502.1:n.796-16T=
XM_011520304.2:c.1132-16T= XP_011518606.1:p.=
XR_001747940.2:n.1429-16T=
XR_002957158.1:n.1429-16T=
NM_000543.5:c.1264-16T= MANE Select NP_000534.3:p.=
NM_001007593.3:c.1261-16T= NP_001007594.2:p.=
NM_001318087.2:c.1264-16T= NP_001305016.1:p.=
NM_001318088.2:c.343-16T= NP_001305017.1:p.=
NM_001365135.2:c.1132-16T= NP_001352064.1:p.=
NR_027400.3:n.1217-16T=
NR_134502.2:n.736-16T=