Transcript #00001358 (NM_002332.2, LRP1 gene)

Transcript name low density lipoprotein receptor-related protein 1
Gene name LRP1 (low density lipoprotein receptor-related protein 1)
Chromosome 12
Transcript - NCBI ID NM_002332.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_002323.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

52 entries on 1 page. Showing entries 1 - 52.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/- 1i c.67+4469T>C r.(?) p.(=)
-/. - c.300C>T r.(?) p.(Asp100=)
+?/. - c.650C>T r.(?) p.(Ala217Val)
-?/. - c.762G>A r.(?) p.(Thr254=)
?/. - c.1048C>T r.(?) p.(Arg350Cys)
?/. - c.1201C>T r.(?) p.(Arg401Cys)
?/. - c.2816A>G r.(?) p.(Asn939Ser)
+?/. - c.2910G>A r.spl? (p.Ser970=)
?/. - c.3208C>T r.(?) p.(Arg1070Trp)
-/. - c.3507C>T r.(?) p.(Asn1169=)
-/. - c.3546C>T r.(?) p.(Cys1182=)
-?/. - c.3644G>A r.(?) p.(Gly1215Glu)
+/. 23 c.3734A>G r.(?) p.(Lys1245Arg)
-/. - c.3783C>T r.(?) p.(Cys1261=)
-?/. - c.4437G>A r.(?) p.(Ser1479=)
?/. - c.4582T>G r.(?) p.(Tyr1528Asp)
-/. - c.4586A>C r.(?) p.(His1529Pro)
?/. - c.5385G>A r.(?) p.(Met1795Ile)
?/. - c.5758G>A r.(?) p.(Gly1920Arg)
?/. - c.6043G>A r.(?) p.(Val2015Ile)
?/. - c.6497G>A r.(?) p.(Cys2166Tyr)
?/. - c.7129C>T r.(?) p.(Arg2377Cys)
-/. - c.7278C>T r.(?) p.(Ala2426=)
-?/. - c.7415A>G r.(?) p.(Asn2472Ser)
-?/. - c.7523G>A r.(?) p.(Gly2508Asp)
?/. - c.7555G>A r.(?) p.(Ala2519Thr)
-?/. - c.7838G>A r.(?) p.(Arg2613Gln)
-?/. - c.7914C>T r.(?) p.(Asn2638=)
?/. - c.7963G>A r.(?) p.(Val2655Met)
?/. - c.8362G>A r.(?) p.(Val2788Ile)
-/. - c.8699A>C r.(?) p.(Gln2900Pro)
-/. - c.8702-5C>T r.spl? p.?
-/. - c.8997T>C r.(?) p.(Thr2999=)
+/. 59 c.9410C>T r.(?) p.(Thr3137Met)
+?/. - c.9628G>C r.(?) p.(Glu3210Gln)
+?/. - c.9774C>G r.(?) p.(His3258Gln)
-/. - c.9783G>A r.(?) p.(Thr3261=)
-/. - c.10345+19G>A r.(=) p.(=)
-/. - c.10711+4C>T r.spl? p.?
-?/. - c.10899C>T r.(?) p.(Asp3633=)
-?/. - c.10971C>T r.(?) p.(Asp3657=)
?/. - c.11026G>A r.(?) p.(Glu3676Lys)
-?/. - c.11174G>A r.(?) p.(Gly3725Glu)
?/. - c.11859+1G>A r.spl? p.?
+?/. - c.11930C>T r.(?) p.(Ser3977Leu)
-?/. - c.12039G>C r.(?) p.(Gly4013=)
-?/. - c.12189C>T r.(?) p.(Asp4063=)
?/. - c.12818C>T r.(?) p.(Ala4273Val)
?/. - c.12848C>T r.(?) p.(Thr4283Ile)
?/. - c.12923G>T r.(?) p.(Cys4308Phe)
?/. - c.13091+35T>C r.(=) p.(=)
+?/. - c.13329G>A r.(?) p.(Trp4443*)
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