Canonical Allele Identifier: CA1950145860
Gene: SMPD1 HGNC NCBI

Linked Data

dbSNP Id: rs1847882360

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390990_6390991insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG , CM000673.2:g.6390990_6390991insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG GRCh38
NC_000011.9:g.6412220_6412221insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG , CM000673.1:g.6412220_6412221insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG GRCh37
NC_000011.8:g.6368796_6368797insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG NCBI36
NG_011780.1:g.5566_5567insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG MANE Select ENSP00000340409.4:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGG...
ENST00000342245.8:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG ENSP00000340409.4:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGG...
ENST00000527275.5:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG ENSP00000435350.1:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGG...
ENST00000530395.1:c.-96+351_-96+352insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG ENSP00000431479.1:n.-96+351_-96+352insGGGCCGAAAGGAGTGCTGGGGCT...
ENST00000531303.5:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG ENSP00000432625.1:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGG...
ENST00000533123.5:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG ENSP00000435950.1:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGG...
ENST00000533196.1:n.374+177_374+178insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG
ENST00000534405.5:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG ENSP00000434353.1:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGG...
NM_000543.4:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG NP_000534.3:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTG...
NM_001007593.2:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG NP_001007594.2:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGG...
XM_005253075.3:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG XP_005253132.1:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGG...
XM_011520303.1:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG XP_011518605.1:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGG...
XM_011520304.1:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG XP_011518606.1:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGG...
XR_930886.1:n.616+74_616+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG
NM_001318087.1:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG NP_001305016.1:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGG...
NM_001318088.1:c.-644+74_-644+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG NP_001305017.1:n.-644+74_-644+75insGGGCCGAAAGGAGTGCTGGGGCTGGG...
NM_001365135.1:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG NP_001352064.1:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGG...
NR_027400.2:n.503+74_503+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG
NR_134502.1:n.503+74_503+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG
XM_011520304.2:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG XP_011518606.1:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGG...
XR_001747940.2:n.443+74_443+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG
XR_002957158.1:n.443+74_443+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG
NM_000543.5:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG MANE Select NP_000534.3:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTG...
NM_001007593.3:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG NP_001007594.2:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGG...
NM_001318087.2:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG NP_001305016.1:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGG...
NM_001318088.2:c.-644+74_-644+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG NP_001305017.1:n.-644+74_-644+75insGGGCCGAAAGGAGTGCTGGGGCTGGG...
NM_001365135.2:c.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG NP_001352064.1:n.318+74_318+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGG...
NR_027400.3:n.443+74_443+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG
NR_134502.2:n.443+74_443+75insGGGCCGAAAGGAGTGCTGGGGCTGGGGGCTGGGGCTGATGCTGGTG