RGD:155745307 Rat Genome Database

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Variant: RGD:155745307 -  Homo sapiens

RGD ID: 155745307
ClinVar ID: CV1834300
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: APOA1  APOA1-AS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 116,708,088
GRCh38 11 116,837,372
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_767t1:c.16C>T
NM_000039.3:c.16C>T
NM_001318017.2:c.16C>T
NM_001318018.2:c.16C>T
More... 		04/01/2021 5 prime utr variant|synonymous variant likely benign

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 M (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAAVMTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTST
FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE
LQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
GLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:APOA1
Accession:NM_000039
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAAVMTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTST
FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE
LQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
GLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:APOA1
Accession:XM_047426866
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAAVMTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTST
FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE
LQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
GLLPVLESFKVSFLSALEEYTKKLNTQ*

Gene Symbol:APOA1
Accession:NM_001318017
Location:EXON
Amino Acid Prediction: L to M (nonsynonymous)
Amino Acid Position: 6
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKAAVMTLAVLFLTGSQARHFWQQDEPPQSPWDRVKDLATVYVDVLKDSGRDYVSQFEGSALGKQLNLKLLDNWDSVTST
FSKLREQLGPVTQEFWDNLEKETEGLRQEMSKDLEEVKAKVQPYLDDFQKKWQEEMELYRQKVEPLRAELQEGARQKLHE
LQEKLSPLGEEMRDRARAHVDALRTHLAPYSDELRQRLAARLEALKENGGARLAEYHAKATEHLSTLSEKAKPALEDLRQ
GLLPVLESFKVSFLSALEEYTKKLNTQ*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002414689 CLINVAR
MedGen CN230736 CLINVAR
NCBI Gene APOA1 CLINVAR
  APOA1-AS CLINVAR
OMIM 107680 CLINVAR
  620112 CLINVAR