RGD:8569052 Rat Genome Database

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Variant: RGD:8569052 -  Homo sapiens

RGD ID: 8569052
RS ID: rs199476302
ClinVar ID: CV40553
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPM1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 15 63,335,095
GRCh38 15 63,042,896
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.5258G>C
NC_000015.10:g.63042896G>C
NC_000015.9:g.63335095G>C
NP_001018005.1:p.Glu23Gln
More... 		12/30/2019 missense|missense variant uncertain significance|not provided 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:TPM1
Accession:NM_001018005
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKLALNED*

Gene Symbol:TPM1
Accession:NM_001407331
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI*

Gene Symbol:TPM1
Accession:NM_001301244
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI*

Gene Symbol:TPM1
Accession:NM_001407330
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSHLSELCICLFSS*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI*

Gene Symbol:TPM1
Accession:NM_001407327
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSHLSELCICLFSS*

Gene Symbol:TPM1
Accession:NM_001018006
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM*

Gene Symbol:TPM1
Accession:NM_001407322
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
LEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEK
AADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLR
IMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHAL
NDMTSI*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI*

Gene Symbol:TPM1
Accession:XM_047433001
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSHLSELCICLFSS*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSHLSELCICLFSS*

Gene Symbol:TPM1
Accession:NM_001407325
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEGKILSSVFSLILMVEYQPGKTIFQFKGIHIDTLLCTCTFFLCVLWGFSLWLLNS*

Gene Symbol:TPM1
Accession:NM_001407323
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
LEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEK
AADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLR
IMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHAL
NDMTSM*

Gene Symbol:TPM1
Accession:NM_001407334
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001407333
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001018004
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM*

Gene Symbol:TPM1
Accession:NM_001407326
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSIESGSCQRRKP*

Gene Symbol:TPM1
Accession:NM_001407335
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001365779
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001407336
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKLALNED*

Gene Symbol:TPM1
Accession:NM_001407337
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKLALNED*

Gene Symbol:TPM1
Accession:NM_001407328
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSHLSELCICLFSS*

Gene Symbol:TPM1
Accession:NM_001407332
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001018020
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM*

Gene Symbol:TPM1
Accession:NM_000366
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NM_001365778
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
LEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEK
AADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELK
TVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTL
LELNNM*

Gene Symbol:TPM1
Accession:NM_001365777
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDKFLCFTSPKTPSSSWMSHLSELCICLFSS*

Gene Symbol:TPM1
Accession:NM_001018007
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEEKVAHAKEENLSMHQMLDQTLLELNNM*

Gene Symbol:TPM1
Accession:NM_001407338
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKLALNED*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKLALNED*

Gene Symbol:TPM1
Accession:NM_001407324
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
LEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEK
AADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADRKYEEVARKLVIIESDLERAEERAELSEGKCAELEEELK
TVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAEFAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHAL
NDMTSM*

Gene Symbol:TPM1
Accession:NM_001407329
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGQVRQLEEQLRIMDQTLKALMAAEDKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSI*

Gene Symbol:TPM1
Accession:NM_001365776
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEDELVSLQKKLKGTEDELDKYSEALKDAQEKLELAEKKATD
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDQLYQQLEQNRRLTNELKLALNED*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAIKKKMQMLKLDKENALDRAQQAEADKKAAEDRSKQLEEDIAAKEKLLRVSEDERDRVLEELHKAEDSLLAAEEAAAK
AEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIESRAQKDEEKMEIQEIQLKEAKHIAEDADR
KYEEVARKLVIIESDLERAEERAELSEGKCAELEEELKTVTNNLKSLEAQAEKYSQKEDRYEEEIKVLSDKLKEAETRAE
FAERSVTKLEKSIDDLEDELYAQKLKYKAISEELDHALNDMTSM*

Gene Symbol:TPM1
Accession:NR_176346
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:NR_176337
Location:EXON;NON-CODING

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

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

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

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

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

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

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

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001018008
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407341
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001330351
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365781
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365782
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001330346
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001330344
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001365780
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407340
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001301289
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407344
Location:INTRON

Gene Symbol:TPM1
Accession:NM_001407342
Location:INTRON

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

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

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

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

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

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

Variant Samples
Additional References at PubMed
PMID:20215591   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000024589 CLINVAR
  RCV001053173 CLINVAR
dbSNP (RS) rs199476302 CLINVAR
MedGen C0007194 CLINVAR
  C3661900 CLINVAR
NCBI Gene TPM1 CLINVAR
OMIM 191010 CLINVAR