RGD:12893669 Rat Genome Database

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Variant: RGD:12893669 -  Homo sapiens

RGD ID: 12893669
RS ID: rs368458768
ClinVar ID: CV406999
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPK1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 144,150,706
GRCh38 7 144,453,613
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000007.14:g.144453613C>G
NC_000007.13:g.144150706C>G
NM_001042482.2:c.517G>C
NM_001350889.1:c.346G>C
More... 		02/09/2022 3 prime utr variant|missense variant pathogenic|likely pathogenic ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY; none provided; Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TPK1
Accession:NM_001350881
Location:3UTRS;EXON

Gene Symbol:TPK1
Accession:XM_017011971
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASV
NTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSN
TYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_047420196
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 168
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350880
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVL
AFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_005249970
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:NM_001350885
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350893
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_047420194
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVL
AFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350895
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTT
TGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350884
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLL
QPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_047420192
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:XM_011516039
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKDSSDSILQDLTWTMCEKALNFLPEFINGDFDSIRPEVREYYATKVLIFSILGTSFKEEKEPFSG
RREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:NM_001350883
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLL
QPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350879
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:XM_047420199
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516032
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516037
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASV
NTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSN
TYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516047
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011970
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASV
NTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSN
TYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001042482
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVL
AFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350887
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_047420198
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_022445
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:XM_011516043
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 199
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWC
GLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516031
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350882
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLL
QPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011980
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLAERGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:NM_001350894
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_047420195
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVL
AFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516048
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011981
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLAERGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:NM_001350889
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_024446717
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516033
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516034
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 248
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPCMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350886
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_047420197
Location:EXON
Amino Acid Prediction: D to H (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPCMQVTTTGLKWNLTNDVLAFGTLVSTSNTYHGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NR_146935
Location:EXON;NON-CODING

Gene Symbol:TPK1
Accession:NR_146934
Location:EXON;NON-CODING

Gene Symbol:TPK1
Accession:NR_146936
Location:EXON;NON-CODING

Gene Symbol:TPK1
Accession:XM_011516046
Location:INTRON

Gene Symbol:TPK1
Accession:XM_017011972
Location:INTRON

Gene Symbol:TPK1
Accession:XM_017011969
Location:INTRON

Gene Symbol:TPK1
Accession:XM_011516040
Location:INTRON

Gene Symbol:TPK1
Accession:XR_001744630
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000479810 CLINVAR
  RCV001078175 CLINVAR
dbSNP (RS) rs368458768 CLINVAR
MedGen C3280866 CLINVAR
  CN517202 CLINVAR
NCBI Gene TPK1 CLINVAR
OMIM 606370 CLINVAR
  614458 CLINVAR