Canonical Allele Identifier: CA234967
Gene: SMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 167708
dbSNP Id: rs727504165

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391419del , CM000673.2:g.6391419del GRCh38
NC_000011.9:g.6412649del , CM000673.1:g.6412649del GRCh37
NC_000011.8:g.6369225del NCBI36
NG_011780.1:g.5995del

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.354del MANE Select ENSP00000340409.4:p.Ile119SerfsTer7
ENST00000342245.8:c.354del ENSP00000340409.4:p.Ile119SerfsTer7
ENST00000527275.5:c.351del ENSP00000435350.1:p.Ile118SerfsTer7
ENST00000530395.1:c.-95-371del ENSP00000431479.1:n.-95-371del
ENST00000531303.5:c.354del ENSP00000432625.1:p.Ile119SerfsTer7
ENST00000533123.5:c.354del ENSP00000435950.1:p.Ile119SerfsTer7
ENST00000533196.1:n.375-587del
ENST00000534405.5:c.354del ENSP00000434353.1:p.Ile119SerfsTer7
NM_000543.4:c.354del NP_000534.3:p.Ile119SerfsTer7
NM_001007593.2:c.351del NP_001007594.2:p.Ile118SerfsTer7
XM_005253075.3:c.354del XP_005253132.1:p.Ile119SerfsTer7
XM_011520303.1:c.354del XP_011518605.1:p.Ile119SerfsTer7
XM_011520304.1:c.354del XP_011518606.1:p.Ile119SerfsTer7
XR_930886.1:n.652del
NM_001318087.1:c.354del NP_001305016.1:p.Ile119SerfsTer7
NM_001318088.1:c.-608del NP_001305017.1:n.-608del
NM_001365135.1:c.354del NP_001352064.1:p.Ile119SerfsTer7
NR_027400.2:n.539del
NR_134502.1:n.539del
XM_011520304.2:c.354del XP_011518606.1:p.Ile119SerfsTer7
XR_001747940.2:n.479del
XR_002957158.1:n.479del
NM_000543.5:c.354del MANE Select NP_000534.3:p.Ile119SerfsTer7
NM_001007593.3:c.351del NP_001007594.2:p.Ile118SerfsTer7
NM_001318087.2:c.354del NP_001305016.1:p.Ile119SerfsTer7
NM_001318088.2:c.-608del NP_001305017.1:n.-608del
NM_001365135.2:c.354del NP_001352064.1:p.Ile119SerfsTer7
NR_027400.3:n.479del
NR_134502.2:n.479del