RGD:127326788 Rat Genome Database

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Variant: RGD:127326788 -  Homo sapiens

RGD ID: 127326788
RS ID: rs2140963657
ClinVar ID: CV1161209
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPM1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 63,353,939
GRCh38 15 63,061,740
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_387t1:c.591G>A
NM_001018008.2:c.483G>A
NM_001301289.2:c.483G>A
NM_001330346.2:c.483G>A
More... 		08/24/2020 intron variant likely benign Cardiomyopathies; none provided
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_001018007
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM*

Gene Symbol:TPM1
Accession:NM_001301244
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSHLSELCICLFSS*

Gene Symbol:TPM1
Accession:NM_001407333
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001365778
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 239
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
LEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEK
AADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELK
TVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTL
LELNNM*

Gene Symbol:TPM1
Accession:NM_001365779
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001365777
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSHLSELCICLFSS*

Gene Symbol:TPM1
Accession:NM_001407324
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 239
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
LEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEK
AADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELK
TVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHAL
NDMTSM*

Gene Symbol:TPM1
Accession:NM_001365776
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKLALNED*

Gene Symbol:TPM1
Accession:NM_001018004
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM*

Gene Symbol:TPM1
Accession:NM_001365780
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSH
LSELCICLFSS*

Gene Symbol:TPM1
Accession:NM_001407341
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEGKILSSVFSLILMVEYQPG
KTIFQFKGIHIDTLLCTCTFFLCVLWGFSLWLLNS*

Gene Symbol:TPM1
Accession:NM_001365782
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDH
ALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001018008
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKL
ALNED*

Gene Symbol:TPM1
Accession:NM_001330346
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDH
ALNDMTSI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001407332
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001301289
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQ
TLLELNNM*

Gene Symbol:TPM1
Accession:NM_001407338
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKLALNED*

Gene Symbol:TPM1
Accession:NM_001407328
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSHLSELCICLFSS*

Gene Symbol:TPM1
Accession:NM_001018005
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI*

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene Symbol:TPM1
Accession:NM_001407342
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407340
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407337
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407322
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407323
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407335
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407330
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:XM_047433001
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407344
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407327
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407325
Location:INTRON

Gene Symbol:TPM1
Accession:NM_000366
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407329
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407334
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407336
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407331
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001018006
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001330351
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001330344
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407326
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001018020
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365781
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001526220 CLINVAR
  RCV001699806 CLINVAR
dbSNP (RS) rs2140963657 CLINVAR
MedGen C0878544 CLINVAR
  C3661900 CLINVAR
NCBI Gene TPM1 CLINVAR
OMIM 191010 CLINVAR
SNOMED CT 85898001 CLINVAR