RGD:156148625 Rat Genome Database

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Variant: RGD:156148625 -  Homo sapiens

RGD ID: 156148625
ClinVar ID: CV2090988
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOA1  APOA1-AS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 116,708,065
GRCh38 11 116,837,349
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_000030.1:p.Leu13=
NP_001304946.1:p.Leu13=
LRG_767t1:c.39G>A
NM_000039.3:c.39G>A
More... 		06/04/2022 5 prime utr variant|synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:APOA1
Accession:NM_001318021
Location:5UTRS;EXON

Gene Symbol:APOA1
Accession:NM_001318018
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTST
FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE
LQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
GLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:APOA1
Accession:NM_000039
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTST
FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE
LQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
GLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:APOA1
Accession:XM_047426866
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTST
FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE
LQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
GLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:APOA1
Accession:NM_001318017
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 13
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAAVLTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTST
FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE
LQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
GLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:APOA1-AS
Accession:NR_126362
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002890576 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene APOA1 CLINVAR
  APOA1-AS CLINVAR
OMIM 107680 CLINVAR
  620112 CLINVAR