Canonical Allele Identifier: CA1950149334
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394203_6394205delinsCGT , CM000673.2:g.6394203_6394205delinsCGT GRCh38
NC_000011.9:g.6415433_6415435delinsCGT , CM000673.1:g.6415433_6415435delinsCGT GRCh37
NC_000011.8:g.6372009_6372011delinsCGT NCBI36
NG_011780.1:g.8779_8781delinsCGT
NG_029615.1:g.30210_30212delinsACG

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1492_1494delinsCGT MANE Select ENSP00000340409.4:p.Arg498=
ENST00000342245.8:c.1492_1494delinsCGT ENSP00000340409.4:p.Arg498=
ENST00000526280.1:c.549_551delinsCGT
ENST00000527275.5:c.1489_1491delinsCGT ENSP00000435350.1:p.Arg497=
ENST00000531303.5:c.*343_*345delinsCGT ENSP00000432625.1:n.*343_*345delinsCGT
ENST00000531336.1:n.480_482delinsCGT
ENST00000533123.5:c.*219_*221delinsCGT ENSP00000435950.1:n.*219_*221delinsCGT
ENST00000534405.5:c.*323_*325delinsCGT ENSP00000434353.1:n.*323_*325delinsCGT
NM_000543.4:c.1492_1494delinsCGT NP_000534.3:p.Arg498=
NM_001007593.2:c.1489_1491delinsCGT NP_001007594.2:p.Arg497=
XM_005253075.3:c.1512_1514delinsCGT XP_005253132.1:p.Thr504=
XM_011520303.1:c.1360_1362delinsCGT XP_011518605.1:p.Arg454=
XM_011520304.1:c.1380_1382delinsCGT XP_011518606.1:p.Thr460=
NM_001318087.1:c.1512_1514delinsCGT NP_001305016.1:p.Thr504=
NM_001318088.1:c.571_573delinsCGT NP_001305017.1:p.Arg191=
NM_001365135.1:c.1360_1362delinsCGT NP_001352064.1:p.Arg454=
NR_027400.2:n.1505_1507delinsCGT
NR_134502.1:n.1044_1046delinsCGT
XM_011520304.2:c.1380_1382delinsCGT XP_011518606.1:p.Thr460=
XR_001747940.2:n.1677_1679delinsCGT
XR_002957158.1:n.1859_1861delinsCGT
NM_000543.5:c.1492_1494delinsCGT MANE Select NP_000534.3:p.Arg498=
NM_001007593.3:c.1489_1491delinsCGT NP_001007594.2:p.Arg497=
NM_001318087.2:c.1512_1514delinsCGT NP_001305016.1:p.Thr504=
NM_001318088.2:c.571_573delinsCGT NP_001305017.1:p.Arg191=
NM_001365135.2:c.1360_1362delinsCGT NP_001352064.1:p.Arg454=
NR_027400.3:n.1445_1447delinsCGT
NR_134502.2:n.984_986delinsCGT