RGD:151711188 Rat Genome Database

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Variant: RGD:151711188 -  Homo sapiens

RGD ID: 151711188
RS ID: rs1554654142
ClinVar ID: CV1497188
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CDKN2A  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 21,971,144
GRCh38 9 21,971,145
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_11:g.28347T>G
NP_001182061.1:p.Cys72Gly
NP_478102.2:p.Leu86Arg
NM_058195.4:c.257T>G
More...
06/23/2021 3 prime utr variant uncertain significance Hereditary cutaneous melanoma; Hereditary melanoma
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CDKN2A
Accession:NM_058197
Location:3UTRS;EXON

Gene Symbol:CDKN2A
Accession:NM_058195
Location:EXON
Amino Acid Prediction: L to R (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRRFLVTLRIRRACGPPRVRVFVVHIPRLTGEWAAPGAPAAVALVLMLLRSQRLGQQPLPRRPGHDDGQRPSGGAAAAP
RRGAQRRRPRHSHPTRARRCPGGLPGHAGGAAPGRGAAGRARCLGPSARGPG*

Gene Symbol:CDKN2A
Accession:NM_000077
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNGADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:NM_001195132
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNGADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSEMIGNHLW
VCRSRHA*

Gene Symbol:CDKN2A
Accession:XM_011517676
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNGADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSVTASIQVP
GGEEGDFGSSYS*

Gene Symbol:CDKN2A
Accession:XM_011517675
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAAGSSMEPSADWLATAAARGRVEEVRALLEAGALPNAPNSYGRRPIQVMMMGSARVAELLLLHGAEPNGADPATLTR
PVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLRAAAGGTRGSNHARIDAAEGPSAGWTNLRI
SKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:CDKN2A
Accession:NM_001363763
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNGADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:XM_047422597
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNGADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSDIPD*

Gene Symbol:CDKN2A
Accession:XM_047422596
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNGADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSAGWTNLRISKPNCAWHHLEISRSRLFCTTQLI*

Gene Symbol:CDKN2A
Accession:XM_047422598
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMMGSARVAELLLLHGAEPNGADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEELGHRDVARYLR
AAAGGTRGSNHARIDAAEGPSAGWTNLRISKPNCAWHHLEISRSRLFCTTQLI*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002002000 CLINVAR
dbSNP (RS) rs1554654142 CLINVAR
MedGen C1512419 CLINVAR
NCBI Gene CDKN2A CLINVAR
OMIM 600160 CLINVAR