RGD:155797176 Rat Genome Database

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Variant: RGD:155797176 -  Homo sapiens

RGD ID: 155797176
ClinVar ID: CV1859250
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKT1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 105,239,287
GRCh38 14 104,772,950
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001369361.1:p.Arg367His
LRG_721t1:c.1100G>A
LRG_721t2:c.1100G>A
NM_001014431.2:c.1100G>A
More... 		06/03/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:AKT1
Accession:NM_001014431
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDVAIVKEGWLHKRGEYIKTWRPRYFLLKNDGTFIGYKERPQDVDQREAPLNNFSVAQCQLMKTERPRPNTFIIRCLQW
TTVIERTFHVETPEEREEWTTAIQTVADGLKKQEEEEMDFRSGSPSDNSGAEEMEVSLAKPKHRVTMNEFEYLKLLGKGT
FGKVILVKEKATGRYYAMKILKKEVIVAKDEVAHTLTENRVLQNSRHPFLTALKYSFQTHDRLCFVMEYANGGELFFHLS
RERVFSEDRARFYGAEIVSALDYLHSEKNVVYRDLKLENLMLDKDGHIKITDFGLCKEGIKDGATMKTFCGTPEYLAPEV
LEDNDYGRAVDWWGLGVVMYEMMCGRLPFYNQDHEKLFELILMEEIHFPRTLGPEAKSLLSGLLKKDPKQRLGGGSEDAK
EIMQHRFFAGIVWQHVYEKKLSPPFKPQVTSETDTRYFDEEFTAQMITITPPDQDDSMECVDSERRPHFPQFSYSASGTA
*

Gene Symbol:AKT1
Accession:NM_001014432
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDVAIVKEGWLHKRGEYIKTWRPRYFLLKNDGTFIGYKERPQDVDQREAPLNNFSVAQCQLMKTERPRPNTFIIRCLQW
TTVIERTFHVETPEEREEWTTAIQTVADGLKKQEEEEMDFRSGSPSDNSGAEEMEVSLAKPKHRVTMNEFEYLKLLGKGT
FGKVILVKEKATGRYYAMKILKKEVIVAKDEVAHTLTENRVLQNSRHPFLTALKYSFQTHDRLCFVMEYANGGELFFHLS
RERVFSEDRARFYGAEIVSALDYLHSEKNVVYRDLKLENLMLDKDGHIKITDFGLCKEGIKDGATMKTFCGTPEYLAPEV
LEDNDYGRAVDWWGLGVVMYEMMCGRLPFYNQDHEKLFELILMEEIHFPRTLGPEAKSLLSGLLKKDPKQRLGGGSEDAK
EIMQHRFFAGIVWQHVYEKKLSPPFKPQVTSETDTRYFDEEFTAQMITITPPDQDDSMECVDSERRPHFPQFSYSASGTA
*

Gene Symbol:AKT1
Accession:NM_005163
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDVAIVKEGWLHKRGEYIKTWRPRYFLLKNDGTFIGYKERPQDVDQREAPLNNFSVAQCQLMKTERPRPNTFIIRCLQW
TTVIERTFHVETPEEREEWTTAIQTVADGLKKQEEEEMDFRSGSPSDNSGAEEMEVSLAKPKHRVTMNEFEYLKLLGKGT
FGKVILVKEKATGRYYAMKILKKEVIVAKDEVAHTLTENRVLQNSRHPFLTALKYSFQTHDRLCFVMEYANGGELFFHLS
RERVFSEDRARFYGAEIVSALDYLHSEKNVVYRDLKLENLMLDKDGHIKITDFGLCKEGIKDGATMKTFCGTPEYLAPEV
LEDNDYGRAVDWWGLGVVMYEMMCGRLPFYNQDHEKLFELILMEEIHFPRTLGPEAKSLLSGLLKKDPKQRLGGGSEDAK
EIMQHRFFAGIVWQHVYEKKLSPPFKPQVTSETDTRYFDEEFTAQMITITPPDQDDSMECVDSERRPHFPQFSYSASGTA
*

Gene Symbol:AKT1
Accession:NM_001382430
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDVAIVKEGWLHKRGEYIKTWRPRYFLLKNDGTFIGYKERPQDVDQREAPLNNFSVAQCQLMKTERPRPNTFIIRCLQW
TTVIERTFHVETPEEREEWTTAIQTVADGLKKQEEEEMDFRSGSPSDNSGAEEMEVSLAKPKHRVTMNEFEYLKLLGKGT
FGKVILVKEKATGRYYAMKILKKEVIVAKDEVAHTLTENRVLQNSRHPFLTALKYSFQTHDRLCFVMEYANGGELFFHLS
RERVFSEDRARFYGAEIVSALDYLHSEKNVVYRDLKLENLMLDKDGHIKITDFGLCKEGIKDGATMKTFCGTPEYLAPEV
LEDNDYGRAVDWWGLGVVMYEMMCGRLPFYNQDHEKLFELILMEEIHFPRTLGPEAKSLLSGLLKKDPKQRLGGGSEDAK
EIMQHRFFAGIVWQHVYEKKLSPPFKPQVTSETDTRYFDEEFTAQMITITPPDQDDSMECVDSERRPHFPQFSYSASGTA
*

Gene Symbol:AKT1
Accession:NM_001382433
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDVAIVKEGWLHKRGEYIKTWRPRYFLLKNDGTFIGYKERPQDVDQREAPLNNFSVAQCQLMKTERPRPNTFIIRCLQW
TTVIERTFHVETPEEREEWTTAIQTVADGLKKQEEEEMDFRSGSPSDNSGAEEMEVSLAKPKHRVTMNEFEYLKLLGKGT
FGKVILVKEKATGRYYAMKILKKEVIVAKDEVAHTLTENRVLQNSRHPFLTALKYSFQTHDRLCFVMEYANGGELFFHLS
RERVFSEDRARFYGAEIVSALDYLHSEKNVVYRDLKLENLMLDKDGHIKITDFGLCKEGIKDGATMKTFCGTPEYLAPEV
LEDNDYGRAVDWWGLGVVMYEMMCGRLPFYNQDHEKLFELILMEEIHFPRTLGPEAKSLLSGLLKKDPKQRLGGGSEDAK
EIMQHRFFAGIVWQHVYEKKLSPPFKPQVTSETDTRYFDEEFTAQMITITPPDQDDSMECVDSERRPHFPQFSYSASGTA
*

Gene Symbol:AKT1
Accession:NM_001382431
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDVAIVKEGWLHKRGEYIKTWRPRYFLLKNDGTFIGYKERPQDVDQREAPLNNFSVAQCQLMKTERPRPNTFIIRCLQW
TTVIERTFHVETPEEREEWTTAIQTVADGLKKQEEEEMDFRSGSPSDNSGAEEMEVSLAKPKHRVTMNEFEYLKLLGKGT
FGKVILVKEKATGRYYAMKILKKEVIVAKDEVAHTLTENRVLQNSRHPFLTALKYSFQTHDRLCFVMEYANGGELFFHLS
RERVFSEDRARFYGAEIVSALDYLHSEKNVVYRDLKLENLMLDKDGHIKITDFGLCKEGIKDGATMKTFCGTPEYLAPEV
LEDNDYGRAVDWWGLGVVMYEMMCGRLPFYNQDHEKLFELILMEEIHFPRTLGPEAKSLLSGLLKKDPKQRLGGGSEDAK
EIMQHRFFAGIVWQHVYEKKLSPPFKPQVTSETDTRYFDEEFTAQMITITPPDQDDSMECVDSERRPHFPQFSYSASGTA
*

Gene Symbol:AKT1
Accession:NM_001382432
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDVAIVKEGWLHKRGEYIKTWRPRYFLLKNDGTFIGYKERPQDVDQREAPLNNFSVAQCQLMKTERPRPNTFIIRCLQW
TTVIERTFHVETPEEREEWTTAIQTVADGLKKQEEEEMDFRSGSPSDNSGAEEMEVSLAKPKHRVTMNEFEYLKLLGKGT
FGKVILVKEKATGRYYAMKILKKEVIVAKDEVAHTLTENRVLQNSRHPFLTALKYSFQTHDRLCFVMEYANGGELFFHLS
RERVFSEDRARFYGAEIVSALDYLHSEKNVVYRDLKLENLMLDKDGHIKITDFGLCKEGIKDGATMKTFCGTPEYLAPEV
LEDNDYGRAVDWWGLGVVMYEMMCGRLPFYNQDHEKLFELILMEEIHFPRTLGPEAKSLLSGLLKKDPKQRLGGGSEDAK
EIMQHRFFAGIVWQHVYEKKLSPPFKPQVTSETDTRYFDEEFTAQMITITPPDQDDSMECVDSERRPHFPQFSYSASGTA
*

Gene Symbol:AKT1
Accession:XM_047431075
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDVAIVKEGWLHKRGEYIKTWRPRYFLLKNDGTFIGYKERPQDVDQREAPLNNFSVAQCQLMKTERPRPNTFIIRCLQW
TTVIERTFHVETPEEREEWTTAIQTVADGLKKQEEEEMDFRSGSPSDNSGAEEMEVSLAKPKHRVTMNEFEYLKLLGKGT
FGKVILVKEKATGRYYAMKILKKEVIVAKDEVAHTLTENRVLQNSRHPFLTALKYSFQTHDRLCFVMEYANGGELFFHLS
RERVFSEDRARFYGAEIVSALDYLHSEKNVVYRDLKLENLMLDKDGHIKITDFGLCKEGIKDGATMKTFCGTPEYLAPEV
LEDNDYGRAVDWWGLGVVMYEMMCGRLPFYNQDHEKLFELILMEEIHFPRTLGPEAKSLLSGLLKKDPKQRLGGGSEDAK
EIMQHRFFAGIVWQHVYEKKLSPPFKPQVTSETDTRYFDEEFTAQMITITPPDQDDSMECVDSERRPHFPQFSYSASGTA
*

Gene Symbol:AKT1
Accession:XM_047431074
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDVAIVKEGWLHKRGEYIKTWRPRYFLLKNDGTFIGYKERPQDVDQREAPLNNFSVAQCQLMKTERPRPNTFIIRCLQW
TTVIERTFHVETPEEREEWTTAIQTVADGLKKQEEEEMDFRSGSPSDNSGAEEMEVSLAKPKHRVTMNEFEYLKLLGKGT
FGKVILVKEKATGRYYAMKILKKEVIVAKDEVAHTLTENRVLQNSRHPFLTALKYSFQTHDRLCFVMEYANGGELFFHLS
RERVFSEDRARFYGAEIVSALDYLHSEKNVVYRDLKLENLMLDKDGHIKITDFGLCKEGIKDGATMKTFCGTPEYLAPEV
LEDNDYGRAVDWWGLGVVMYEMMCGRLPFYNQDHEKLFELILMEEIHFPRTLGPEAKSLLSGLLKKDPKQRLGGGSEDAK
EIMQHRFFAGIVWQHVYEKKLSPPFKPQVTSETDTRYFDEEFTAQMITITPPDQDDSMECVDSERRPHFPQFSYSASGTA
*

Gene Symbol:AKT1
Accession:XM_047431069
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDVAIVKEGWLHKRGEYIKTWRPRYFLLKNDGTFIGYKERPQDVDQREAPLNNFSVAQCQLMKTERPRPNTFIIRCLQW
TTVIERTFHVETPEEREEWTTAIQTVADGLKKQEEEEMDFRSGSPSDNSGAEEMEVSLAKPKHRVTMNEFEYLKLLGKGT
FGKVILVKEKATGRYYAMKILKKEVIVAKDEVAHTLTENRVLQNSRHPFLTALKYSFQTHDRLCFVMEYANGGELFFHLS
RERVFSEDRARFYGAEIVSALDYLHSEKNVVYRDLKLENLMLDKDGHIKITDFGLCKEGIKDGATMKTFCGTPEYLAPEV
LEDNDYGRAVDWWGLGVVMYEMMCGRLPFYNQDHEKLFELILMEEIHFPRTLGPEAKSLLSGLLKKDPKQRLGGGSEDAK
EIMQHRFFAGIVWQHVYEKKLSPPFKPQVTSETDTRYFDEEFTAQMITITPPDQDDSMECVDSERRPHFPQFSYSASGTA
*

Gene Symbol:AKT1
Accession:XM_047431071
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDVAIVKEGWLHKRGEYIKTWRPRYFLLKNDGTFIGYKERPQDVDQREAPLNNFSVAQCQLMKTERPRPNTFIIRCLQW
TTVIERTFHVETPEEREEWTTAIQTVADGLKKQEEEEMDFRSGSPSDNSGAEEMEVSLAKPKHRVTMNEFEYLKLLGKGT
FGKVILVKEKATGRYYAMKILKKEVIVAKDEVAHTLTENRVLQNSRHPFLTALKYSFQTHDRLCFVMEYANGGELFFHLS
RERVFSEDRARFYGAEIVSALDYLHSEKNVVYRDLKLENLMLDKDGHIKITDFGLCKEGIKDGATMKTFCGTPEYLAPEV
LEDNDYGRAVDWWGLGVVMYEMMCGRLPFYNQDHEKLFELILMEEIHFPRTLGPEAKSLLSGLLKKDPKQRLGGGSEDAK
EIMQHRFFAGIVWQHVYEKKLSPPFKPQVTSETDTRYFDEEFTAQMITITPPDQDDSMECVDSERRPHFPQFSYSASGTA
*

Gene Symbol:AKT1
Accession:XM_047431072
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDVAIVKEGWLHKRGEYIKTWRPRYFLLKNDGTFIGYKERPQDVDQREAPLNNFSVAQCQLMKTERPRPNTFIIRCLQW
TTVIERTFHVETPEEREEWTTAIQTVADGLKKQEEEEMDFRSGSPSDNSGAEEMEVSLAKPKHRVTMNEFEYLKLLGKGT
FGKVILVKEKATGRYYAMKILKKEVIVAKDEVAHTLTENRVLQNSRHPFLTALKYSFQTHDRLCFVMEYANGGELFFHLS
RERVFSEDRARFYGAEIVSALDYLHSEKNVVYRDLKLENLMLDKDGHIKITDFGLCKEGIKDGATMKTFCGTPEYLAPEV
LEDNDYGRAVDWWGLGVVMYEMMCGRLPFYNQDHEKLFELILMEEIHFPRTLGPEAKSLLSGLLKKDPKQRLGGGSEDAK
EIMQHRFFAGIVWQHVYEKKLSPPFKPQVTSETDTRYFDEEFTAQMITITPPDQDDSMECVDSERRPHFPQFSYSASGTA
*

Gene Symbol:AKT1
Accession:XM_047431070
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDVAIVKEGWLHKRGEYIKTWRPRYFLLKNDGTFIGYKERPQDVDQREAPLNNFSVAQCQLMKTERPRPNTFIIRCLQW
TTVIERTFHVETPEEREEWTTAIQTVADGLKKQEEEEMDFRSGSPSDNSGAEEMEVSLAKPKHRVTMNEFEYLKLLGKGT
FGKVILVKEKATGRYYAMKILKKEVIVAKDEVAHTLTENRVLQNSRHPFLTALKYSFQTHDRLCFVMEYANGGELFFHLS
RERVFSEDRARFYGAEIVSALDYLHSEKNVVYRDLKLENLMLDKDGHIKITDFGLCKEGIKDGATMKTFCGTPEYLAPEV
LEDNDYGRAVDWWGLGVVMYEMMCGRLPFYNQDHEKLFELILMEEIHFPRTLGPEAKSLLSGLLKKDPKQRLGGGSEDAK
EIMQHRFFAGIVWQHVYEKKLSPPFKPQVTSETDTRYFDEEFTAQMITITPPDQDDSMECVDSERRPHFPQFSYSASGTA
*

Gene Symbol:AKT1
Accession:XM_047431073
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 367
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDVAIVKEGWLHKRGEYIKTWRPRYFLLKNDGTFIGYKERPQDVDQREAPLNNFSVAQCQLMKTERPRPNTFIIRCLQW
TTVIERTFHVETPEEREEWTTAIQTVADGLKKQEEEEMDFRSGSPSDNSGAEEMEVSLAKPKHRVTMNEFEYLKLLGKGT
FGKVILVKEKATGRYYAMKILKKEVIVAKDEVAHTLTENRVLQNSRHPFLTALKYSFQTHDRLCFVMEYANGGELFFHLS
RERVFSEDRARFYGAEIVSALDYLHSEKNVVYRDLKLENLMLDKDGHIKITDFGLCKEGIKDGATMKTFCGTPEYLAPEV
LEDNDYGRAVDWWGLGVVMYEMMCGRLPFYNQDHEKLFELILMEEIHFPRTLGPEAKSLLSGLLKKDPKQRLGGGSEDAK
EIMQHRFFAGIVWQHVYEKKLSPPFKPQVTSETDTRYFDEEFTAQMITITPPDQDDSMECVDSERRPHFPQFSYSASGTA
*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002464878 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene AKT1 CLINVAR
OMIM 164730 CLINVAR