RGD:13609307 Rat Genome Database

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Variant: RGD:13609307 -  Homo sapiens

RGD ID: 13609307
RS ID: rs1555409523
ClinVar ID: CV528958
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPM1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 63,353,955
GRCh38 15 63,061,756
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001330346.2:c.499A>G
NM_001365780.1:c.499A>G
NM_001365782.1:c.499A>G
NM_001365781.2:c.532-459A>G
More... 		09/28/2017 intron variant likely pathogenic|uncertain significance HYPERTROPHIC MYOCARDIOPATHY; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001018005
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI*

Gene Symbol:TPM1
Accession:NM_001365777
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSHLSELCICLFSS*

Gene Symbol:TPM1
Accession:NM_001407338
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKLALNED*

Gene Symbol:TPM1
Accession:NM_001301244
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI*

Gene Symbol:TPM1
Accession:NM_001365782
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDH
ALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001365780
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSH
LSELCICLFSS*

Gene Symbol:TPM1
Accession:NM_001018008
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKL
ALNED*

Gene Symbol:TPM1
Accession:NM_001407328
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSHLSELCICLFSS*

Gene Symbol:TPM1
Accession:NM_001365779
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001018004
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM*

Gene Symbol:TPM1
Accession:NM_001407324
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
LEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEK
AADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELK
TVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHAL
NDMTSM*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSHLSELCICLFSS*

Gene Symbol:TPM1
Accession:NM_001407333
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001365776
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKLALNED*

Gene Symbol:TPM1
Accession:NM_001018007
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM*

Gene Symbol:TPM1
Accession:NM_001301289
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQ
TLLELNNM*

Gene Symbol:TPM1
Accession:NM_001330346
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDH
ALNDMTSI*

Gene Symbol:TPM1
Accession:NM_001365778
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
LEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEK
AADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELK
TVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTL
LELNNM*

Gene Symbol:TPM1
Accession:NM_001407332
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAEQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001407341
Location:EXON
Amino Acid Prediction: N to D (nonsynonymous)
Amino Acid Position: 167
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGSSSLEAVRRKIRSLQEQADAAEERAGTLQRELDHERKLRETAEADVASLNRRIQLVEEELDRAQERLATALQKLEEA
EKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEE
LKTVTNDLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEGKILSSVFSLILMVEYQPG
KTIFQFKGIHIDTLLCTCTFFLCVLWGFSLWLLNS*

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene Symbol:TPM1
Accession:NM_000366
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407331
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001018006
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407323
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407329
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407330
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_001407322
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407344
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001018020
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001330344
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407342
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407340
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_001407337
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407326
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407335
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_001407325
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407327
Location:INTRON

Gene Symbol:
Accession:
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000629029 CLINVAR
  RCV001702695 CLINVAR
dbSNP (RS) rs1555409523 CLINVAR
MedGen C0007194 CLINVAR
  C3661900 CLINVAR
NCBI Gene TPM1 CLINVAR
OMIM 191010 CLINVAR