RGD:14694265 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:14694265 -  Homo sapiens

RGD ID: 14694265
RS ID: rs1180806328
ClinVar ID: CV619596
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130057222  TPM1  TPM1-AS  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 63,340,839
GRCh38 15 63,048,640
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007557.1:g.11002A>G
NC_000015.10:g.63048640A>G
NC_000015.9:g.63340839A>G
NM_000366.6:c.240+4488A>G
More... 		06/11/2018 intron variant likely benign Cardiomyopathies
Disease Annotations     Click to see Annotation Detail View
cardiomyopathy  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Cardiomyopathy  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:TPM1
Accession:NM_001301289
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQ
TLLELNNM*

Gene Symbol:TPM1
Accession:NM_001018008
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKL
ALNED*

Gene Symbol:TPM1
Accession:NM_001330351
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQ
LRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKL
ALNED*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQ
LRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSH
LSELCICLFSS*

Gene Symbol:TPM1
Accession:NM_001330344
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQ
LRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQ
TLLELNNM*

Gene Symbol:TPM1
Accession:NM_001407342
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQ
LRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSH
LSELCICLFSS*

Gene Symbol:TPM1
Accession:NM_001407340
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQ
LRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEGKILSSVFSLILMVEYQPG
KTIFQFKGIHIDTLLCTCTFFLCVLWGFSLWLLNS*

Gene Symbol:TPM1
Accession:NM_001365782
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDH
ALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001407341
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEGKILSSVFSLILMVEYQPG
KTIFQFKGIHIDTLLCTCTFFLCVLWGFSLWLLNS*

Gene Symbol:TPM1
Accession:NM_001365781
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQ
LRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDH
ALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001407344
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQ
LRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDH
ALNDMTSI*

Gene Symbol:TPM1
Accession:NM_001330346
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDH
ALNDMTSI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQ
LRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDH
ALNDMTSI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQ
LRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEGKILSSVFSLILMVEYQPG
KTIFQFKGIHIDTLLCTCTFFLCVLWGFSLWLLNS*

Gene Symbol:TPM1
Accession:NM_001365780
Location:EXON
Amino Acid Prediction: D to G (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQAGAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSH
LSELCICLFSS*

Gene Symbol:TPM1-AS
Accession:NR_147233
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176353
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176351
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176352
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176350
Location:EXON;NON-CODING

Gene Symbol:TPM1
Accession:NM_001018005
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001301244
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001018004
Location:INTRON

Gene Symbol:TPM1
Accession:NM_000366
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407334
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407323
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407326
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407327
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407332
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365776
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407337
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407325
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001018020
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365778
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407322
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407333
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365779
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407331
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365777
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407338
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407329
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407328
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:XM_047433001
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407336
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407324
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001018006
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001018007
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407335
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407330
Location:INTRON

Gene Symbol:TPM1
Accession:NR_176349
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176340
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176337
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176345
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176342
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176338
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176343
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176339
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176347
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176341
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176344
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176348
Location:INTRON;NON-CODING

Gene Symbol:TPM1
Accession:NR_176346
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000773345 CLINVAR
dbSNP (RS) rs1180806328 CLINVAR
MedGen C0878544 CLINVAR
NCBI Gene LOC130057222 CLINVAR
  TPM1 CLINVAR
  TPM1-AS CLINVAR
OMIM 191010 CLINVAR
SNOMED CT 85898001 CLINVAR