Canonical Allele Identifier: CA5852771
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs766039211

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6392242_6392243insG , CM000673.2:g.6392242_6392243insG GRCh38
NC_000011.9:g.6413472_6413473insG , CM000673.1:g.6413472_6413473insG GRCh37
NC_000011.8:g.6370048_6370049insG NCBI36
NG_011780.1:g.6818_6819insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1091+86_1091+87insG MANE Select ENSP00000340409.4:n.1091+86_1091+87insG
ENST00000342245.8:c.1091+86_1091+87insG ENSP00000340409.4:n.1091+86_1091+87insG
ENST00000526280.1:c.320+46_320+47insG
ENST00000527275.5:c.1088+86_1088+87insG ENSP00000435350.1:n.1088+86_1088+87insG
ENST00000531303.5:c.438+739_438+740insG ENSP00000432625.1:n.438+739_438+740insG
ENST00000533123.5:c.1091+86_1091+87insG ENSP00000435950.1:n.1091+86_1091+87insG
ENST00000534405.5:c.1131+46_1131+47insG ENSP00000434353.1:n.1131+46_1131+47insG
NM_000543.4:c.1091+86_1091+87insG NP_000534.3:n.1091+86_1091+87insG
NM_001007593.2:c.1088+86_1088+87insG NP_001007594.2:n.1088+86_1088+87insG
XM_005253075.3:c.1091+86_1091+87insG XP_005253132.1:n.1091+86_1091+87insG
XM_011520303.1:c.1131+46_1131+47insG XP_011518605.1:n.1131+46_1131+47insG
XM_011520304.1:c.1131+46_1131+47insG XP_011518606.1:n.1131+46_1131+47insG
XR_930886.1:n.1429+46_1429+47insG
NM_001318087.1:c.1091+86_1091+87insG NP_001305016.1:n.1091+86_1091+87insG
NM_001318088.1:c.170+46_170+47insG NP_001305017.1:n.170+46_170+47insG
NM_001365135.1:c.1131+46_1131+47insG NP_001352064.1:n.1131+46_1131+47insG
NR_027400.2:n.1276+86_1276+87insG
NR_134502.1:n.623+739_623+740insG
XM_011520304.2:c.1131+46_1131+47insG XP_011518606.1:n.1131+46_1131+47insG
XR_001747940.2:n.1256+46_1256+47insG
XR_002957158.1:n.1256+46_1256+47insG
NM_000543.5:c.1091+86_1091+87insG MANE Select NP_000534.3:n.1091+86_1091+87insG
NM_001007593.3:c.1088+86_1088+87insG NP_001007594.2:n.1088+86_1088+87insG
NM_001318087.2:c.1091+86_1091+87insG NP_001305016.1:n.1091+86_1091+87insG
NM_001318088.2:c.170+46_170+47insG NP_001305017.1:n.170+46_170+47insG
NM_001365135.2:c.1131+46_1131+47insG NP_001352064.1:n.1131+46_1131+47insG
NR_027400.3:n.1216+86_1216+87insG
NR_134502.2:n.563+739_563+740insG