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84 records found for search term Alpi
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405257937CV3207967single nucleotide variantNM_001631.5(ALPI):c.-7C>GALPI-related disorder [RCV003941435]likely benign2232456193232456193Humanname , trait , alternate_id
405277115CV3198759single nucleotide variantNM_001631.5(ALPI):c.857-7C>TALPI-related disorder [RCV003904083]likely benign2232457991232457991Humanname , trait , alternate_id
405293890CV3214631single nucleotide variantNM_001631.5(ALPI):c.783+8G>AALPI-related disorder [RCV003932289]benign2232457707232457707Humanname , trait , alternate_id
404984377CV2849363single nucleotide variantNM_001631.5(ALPI):c.991+33C>Tnot specified [RCV003489235]benign2232458165232458165Humanname
404982042CV2848976single nucleotide variantNM_001631.5(ALPI):c.1183+59T>Cnot specified [RCV003488848]benign2232458467232458467Humanname
405806602CV3268619single nucleotide variantNM_001631.5(ALPI):c.20T>C (p.Leu7Pro)ALPI-related disorder [RCV004750463]|not specified [RCV004406133]uncertain significance2232456219232456219Humanname , trait , alternate_id
408376765CV3516276single nucleotide variantNM_001631.5(ALPI):c.153C>T (p.Val51=)ALPI-related disorder [RCV004749449]likely benign2232456434232456434Humanname , trait , alternate_id
596929824CV3538616single nucleotide variantNM_001631.5(ALPI):c.26T>C (p.Leu9Pro)not provided [RCV004792085]uncertain significance2232456225232456225Humanname
405283534CV3191752single nucleotide variantNM_001631.5(ALPI):c.58G>A (p.Val20Ile)ALPI-related disorder [RCV003921852]benign2232456257232456257Humanname , trait , alternate_id
405272477CV3199348single nucleotide variantNM_001631.5(ALPI):c.98G>T (p.Arg33Leu)ALPI-related disorder [RCV003914296]benign2232456379232456379Humanname , trait , alternate_id
405258180CV3208272single nucleotide variantNM_001631.5(ALPI):c.870C>T (p.Pro290=)ALPI-related disorder [RCV003941703]benign2232458011232458011Humanname , trait , alternate_id
405290129CV3214036single nucleotide variantNM_001631.5(ALPI):c.660C>T (p.Gly220=)ALPI-related disorder [RCV003926879]likely benign2232457576232457576Human1name , trait , alternate_id
405290129CV3214036single nucleotide variantNM_001631.5(ALPI):c.660C>T (p.Gly220=)ALPI-related disorder [RCV003926879]likely benign2232457576232457577Human1name , trait , alternate_id
405290189CV3214139single nucleotide variantNM_001631.5(ALPI):c.522G>A (p.Ser174=)ALPI-related disorder [RCV003926974]likely benign2232457196232457196Humanname , trait , alternate_id
405289907CV3218894single nucleotide variantNM_001631.5(ALPI):c.744C>T (p.Asp248=)ALPI-related disorder [RCV003962011]likely benign2232457660232457660Humanname , trait , alternate_id
405278106CV3221702single nucleotide variantNM_001631.5(ALPI):c.333C>T (p.Ser111=)ALPI-related disorder [RCV003976302]benign2232456931232456931Humanname , trait , alternate_id
405867914CV3396649single nucleotide variantNM_001631.5(ALPI):c.83C>T (p.Pro28Leu)Inflammatory bowel disease [RCV004560521]uncertain significance2232456364232456364Human2name
156289375CV2309687single nucleotide variantNM_001631.5(ALPI):c.290C>G (p.Ala97Gly)not specified [RCV004160823]uncertain significance2232456685232456685Humanname
156084183CV2330836single nucleotide variantNM_001631.5(ALPI):c.200C>T (p.Thr67Met)not specified [RCV004185892]uncertain significance2232456595232456595Humanname
155990671CV2372083single nucleotide variantNM_001631.5(ALPI):c.296C>A (p.Ser99Tyr)not specified [RCV004221746]uncertain significance2232456691232456691Humanname
401737691CV2718176single nucleotide variantNM_001631.5(ALPI):c.133C>A (p.Leu45Met)not specified [RCV004315875]uncertain significance2232456414232456414Humanname
405279801CV3191480single nucleotide variantNM_001631.5(ALPI):c.1065C>T (p.Asp355=)ALPI-related disorder [RCV003919632]benign2232458290232458290Humanname , trait , alternate_id
405286444CV3192834single nucleotide variantNM_001631.5(ALPI):c.1050G>A (p.Ala350=)ALPI-related disorder [RCV003981561]likely benign2232458275232458275Humanname , trait , alternate_id
405291494CV3205722single nucleotide variantNM_001631.5(ALPI):c.1488G>A (p.Ala496=)ALPI-related disorder [RCV003963863]likely benign2232459047232459047Humanname , trait , alternate_id
405291751CV3206094single nucleotide variantNM_001631.5(ALPI):c.274C>T (p.Arg92Cys)ALPI-related disorder [RCV003964173]|not provided [RCV004790648]benign|uncertain significance2232456669232456669Humanname , trait , alternate_id
405293148CV3207236single nucleotide variantNM_001631.5(ALPI):c.1122C>T (p.Thr374=)ALPI-related disorder [RCV003931634]likely benign2232458347232458347Humanname , trait , alternate_id
405258058CV3208132single nucleotide variantNM_001631.5(ALPI):c.1332G>A (p.Val444=)ALPI-related disorder [RCV003941578]likely benign2232458891232458891Humanname , trait , alternate_id
405295371CV3209381single nucleotide variantNM_001631.5(ALPI):c.1185G>A (p.Gly395=)ALPI-related disorder [RCV003937256]likely benign2232458633232458633Humanname , trait , alternate_id
405290065CV3214046single nucleotide variantNM_001631.5(ALPI):c.1095C>T (p.Ser365=)ALPI-related disorder [RCV003926888]|not specified [RCV005407286]likely benign2232458320232458320Humanname , trait , alternate_id
405283449CV3217153single nucleotide variantNM_001631.5(ALPI):c.1023T>C (p.Gly341=)ALPI-related disorder [RCV003979261]benign2232458248232458248Humanname , trait , alternate_id
407523839CV3455800single nucleotide variantNM_001631.5(ALPI):c.280C>T (p.Pro94Ser)not specified [RCV004631197]uncertain significance2232456675232456675Humanname
598124819CV3885414single nucleotide variantNM_001631.5(ALPI):c.1269C>T (p.Gly423=)not specified [RCV005239991]uncertain significance2232458717232458717Humanname
155804226CV1866656single nucleotide variantNM_001631.5(ALPI):c.895C>T (p.Arg299Ter)not provided [RCV002481207]uncertain significance2232458036232458036Humanname
156254698CV2203289single nucleotide variantNM_001631.5(ALPI):c.361G>A (p.Gly121Arg)not specified [RCV004071323]uncertain significance2232456959232456959Humanname
156239767CV2217354single nucleotide variantNM_001631.5(ALPI):c.529G>A (p.Gly177Ser)not specified [RCV004087790]uncertain significance2232457203232457203Humanname
156386510CV2228235single nucleotide variantNM_001631.5(ALPI):c.371C>T (p.Ala124Val)not specified [RCV004097969]uncertain significance2232456969232456969Humanname
156207467CV2250043single nucleotide variantNM_001631.5(ALPI):c.676A>G (p.Met226Val)not specified [RCV004116871]uncertain significance2232457592232457592Humanname
156015214CV2269839single nucleotide variantNM_001631.5(ALPI):c.931A>G (p.Thr311Ala)not specified [RCV004127074]uncertain significance2232458072232458072Humanname
155956392CV2281917single nucleotide variantNM_001631.5(ALPI):c.592C>T (p.Arg198Cys)not specified [RCV004138693]uncertain significance2232457266232457266Humanname
156091320CV2302648single nucleotide variantNM_001631.5(ALPI):c.869C>T (p.Pro290Leu)not specified [RCV004162595]uncertain significance2232458010232458010Humanname
156149466CV2377408single nucleotide variantNM_001631.5(ALPI):c.967C>T (p.Arg323Cys)not specified [RCV004225583]uncertain significance2232458108232458108Humanname
156172428CV2380821single nucleotide variantNM_001631.5(ALPI):c.425C>T (p.Thr142Met)not specified [RCV004218380]uncertain significance2232457023232457023Humanname
156096651CV2399108single nucleotide variantNM_001631.5(ALPI):c.824C>T (p.Ala275Val)not specified [RCV004246543]uncertain significance2232457835232457835Humanname
329375470CV2468628single nucleotide variantNM_001631.5(ALPI):c.994G>A (p.Gly332Ser)not specified [RCV004278183]uncertain significance2232458219232458219Humanname
401728885CV2673079single nucleotide variantNM_001631.5(ALPI):c.577A>G (p.Met193Val)not specified [RCV004284066]uncertain significance2232457251232457251Humanname
401760294CV2718788single nucleotide variantNM_001631.5(ALPI):c.986T>C (p.Val329Ala)not specified [RCV004328534]uncertain significance2232458127232458127Humanname
401900014CV2780180single nucleotide variantNM_001631.5(ALPI):c.797T>C (p.Val266Ala)not specified [RCV004355828]uncertain significance2232457808232457808Humanname
401912218CV2795970single nucleotide variantNM_001631.5(ALPI):c.487G>A (p.Gly163Arg)ALPI-related disorder [RCV003399706]uncertain significance2232457161232457161Humanname , trait , alternate_id
405272455CV3199341single nucleotide variantNM_001631.5(ALPI):c.620C>T (p.Thr207Ile)ALPI-related disorder [RCV003914290]benign2232457294232457294Humanname , trait , alternate_id
405276005CV3199554single nucleotide variantNM_001631.5(ALPI):c.431G>A (p.Arg144His)ALPI-related disorder [RCV003916950]benign2232457029232457029Humanname , trait , alternate_id
405290240CV3214152single nucleotide variantNM_001631.5(ALPI):c.438T>A (p.Asn146Lys)ALPI-related disorder [RCV003926985]benign2232457036232457036Humanname , trait , alternate_id
405806633CV3268635single nucleotide variantNM_001631.5(ALPI):c.512A>G (p.Gln171Arg)not specified [RCV004406149]uncertain significance2232457186232457186Humanname
405806869CV3268650single nucleotide variantNM_001631.5(ALPI):c.593G>T (p.Arg198Leu)not specified [RCV004406164]likely benign2232457267232457267Humanname
405806728CV3268662single nucleotide variantNM_001631.5(ALPI):c.805C>T (p.Arg269Cys)not specified [RCV004406176]uncertain significance2232457816232457816Humanname
405867919CV3396660single nucleotide variantNM_001631.5(ALPI):c.406C>T (p.Arg136Cys)Inflammatory bowel disease [RCV004560532]uncertain significance2232457004232457004Human2name
407523733CV3455758single nucleotide variantNM_001631.5(ALPI):c.416A>C (p.Gln139Pro)not specified [RCV004631164]uncertain significance2232457014232457014Humanname
407495717CV3455769single nucleotide variantNM_001631.5(ALPI):c.925G>A (p.Glu309Lys)not specified [RCV004621659]uncertain significance2232458066232458066Humanname
407523813CV3455789single nucleotide variantNM_001631.5(ALPI):c.396T>G (p.Ser132Arg)not specified [RCV004631187]uncertain significance2232456994232456994Humanname
408376836CV3516521single nucleotide variantNM_001631.5(ALPI):c.517G>A (p.Ala173Thr)ALPI-related disorder [RCV004749971]uncertain significance2232457191232457191Humanname , trait , alternate_id
596929988CV3538617single nucleotide variantNM_001631.5(ALPI):c.461G>A (p.Arg154Gln)not provided [RCV004792086]uncertain significance2232457059232457059Humanname
597792515CV3689997single nucleotide variantNM_001631.5(ALPI):c.371C>G (p.Ala124Gly)not specified [RCV004933869]uncertain significance2232456969232456969Humanname
597792546CV3690007single nucleotide variantNM_001631.5(ALPI):c.806G>A (p.Arg269His)not specified [RCV004933879]uncertain significance2232457817232457817Humanname
598124985CV3885513single nucleotide variantNM_001631.5(ALPI):c.940G>A (p.Ala314Thr)not specified [RCV005240091]uncertain significance2232458081232458081Humanname
598191664CV3971707single nucleotide variantNM_001631.5(ALPI):c.388G>A (p.Gly130Ser)not specified [RCV005354324]uncertain significance2232456986232456986Humanname
598191675CV3971711single nucleotide variantNM_001631.5(ALPI):c.466A>G (p.Lys156Glu)not specified [RCV005354326]uncertain significance2232457064232457064Humanname
598191686CV3971713single nucleotide variantNM_001631.5(ALPI):c.476G>A (p.Gly159Glu)not specified [RCV005354328]uncertain significance2232457150232457150Humanname
151353329CV1326419single nucleotide variantNM_001631.5(ALPI):c.1315C>T (p.Gln439Ter)not provided [RCV001816294]likely pathogenic2232458874232458874Humanname
156078799CV2230383single nucleotide variantNM_001631.5(ALPI):c.1330G>C (p.Val444Leu)not specified [RCV004099976]uncertain significance2232458889232458889Humanname
156333688CV2336033single nucleotide variantNM_001631.5(ALPI):c.1347G>C (p.Glu449Asp)ALPI-related disorder [RCV003946389]|not specified [RCV004189638]likely benign|uncertain significance2232458906232458906Humanname , trait , alternate_id
155982600CV2337174single nucleotide variantNM_001631.5(ALPI):c.1164G>T (p.Leu388Phe)not specified [RCV004192932]likely benign2232458389232458389Humanname
156106376CV2370895single nucleotide variantNM_001631.5(ALPI):c.1498T>C (p.Cys500Arg)not specified [RCV004218629]uncertain significance2232459057232459057Humanname
329397534CV2456274single nucleotide variantNM_001631.5(ALPI):c.1056G>A (p.Met352Ile)not specified [RCV004275448]uncertain significance2232458281232458281Humanname
329359601CV2461566single nucleotide variantNM_001631.5(ALPI):c.1238G>A (p.Gly413Asp)not specified [RCV004269750]uncertain significance2232458686232458686Humanname
329398560CV2471554single nucleotide variantNM_001631.5(ALPI):c.1201G>T (p.Ala401Ser)not specified [RCV004286860]uncertain significance2232458649232458649Humanname
401728745CV2673033single nucleotide variantNM_001631.5(ALPI):c.1306C>G (p.Pro436Ala)not specified [RCV004284026]uncertain significance2232458865232458865Humanname
405806501CV3268591single nucleotide variantNM_001631.5(ALPI):c.1003G>A (p.Asp335Asn)not specified [RCV004406105]uncertain significance2232458228232458228Humanname
405806562CV3268599single nucleotide variantNM_001631.5(ALPI):c.1226C>A (p.Ser409Tyr)not specified [RCV004406113]uncertain significance2232458674232458674Humanname
407523790CV3455780single nucleotide variantNM_001631.5(ALPI):c.1015C>G (p.His339Asp)not specified [RCV004631180]uncertain significance2232458240232458240Humanname
408375536CV3509729single nucleotide variantNM_001631.5(ALPI):c.1528G>T (p.Ala510Ser)ALPI-related disorder [RCV004748123]uncertain significance2232459087232459087Humanname , trait , alternate_id
597792410CV3689988single nucleotide variantNM_001631.5(ALPI):c.1021G>T (p.Gly341Cys)not specified [RCV004933860]uncertain significance2232458246232458246Humanname
597792577CV3690017single nucleotide variantNM_001631.5(ALPI):c.1184G>A (p.Gly395Glu)not specified [RCV004933889]uncertain significance2232458632232458632Humanname
597792609CV3690027single nucleotide variantNM_001631.5(ALPI):c.1287T>A (p.Asn429Lys)not specified [RCV004933899]uncertain significance2232458735232458735Humanname
597792632CV3690034single nucleotide variantNM_001631.5(ALPI):c.1270G>A (p.Val424Met)not specified [RCV004933906]uncertain significance2232458718232458718Humanname
598191681CV3971712single nucleotide variantNM_001631.5(ALPI):c.1478G>A (p.Cys493Tyr)not specified [RCV005354327]uncertain significance2232459037232459037Humanname