RGD:13508737 Rat Genome Database

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Variant: RGD:13508737 -  Homo sapiens

RGD ID: 13508737
RS ID: rs1554523224
ClinVar ID: CV481493
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TPK1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 144,245,621
GRCh38 7 144,548,528
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_071890.2:p.Cys192Trp
NC_000007.14:g.144548528A>C
NC_000007.13:g.144245621A>C
NM_001350880.1:c.429T>G
More... 		11/28/2017 missense variant likely pathogenic ENCEPHALOPATHY, EPISODIC, DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY; Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TPK1
Accession:XM_011516047
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011969
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLRTCDYTRTTW
IAKDNPVPRLIRLIRLNHICKVPLAMRRI*

Gene Symbol:TPK1
Accession:NM_001350885
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516039
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKDSSDSILQDLTWTMCEKALNFLPEFINGDFDSIRPEVREYYATKVLIFSILGTSFKEEKEPFSG
RREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:XM_011516048
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350887
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_047420197
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516037
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASV
NTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSN
TYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516040
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLILIISKGTQS
RQ*

Gene Symbol:TPK1
Accession:NM_001350895
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 75
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTT
TGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516032
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350883
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLL
QPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001042482
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVL
AFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350886
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350884
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLL
QPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350880
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVL
AFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_047420196
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_005249970
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:NM_001350894
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350882
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 187
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLL
QPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_047420192
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:XM_011516034
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516031
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011970
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASV
NTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSN
TYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350881
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLRTCDYTRTTWIAKDNPVPRLIRLIRLNHICKVPLAI
K*

Gene Symbol:TPK1
Accession:XM_047420199
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011971
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEVPTAYMISPKEREKASNLKLSSRPPATSHLIRTPKDTHYCGASKGLGNSFIGNESFLPEFINGDFDSIRPEVREYYAT
KVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASV
NTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSN
TYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516033
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTL
VSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011980
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLAERGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:NM_001350893
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_024446717
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350889
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_047420195
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVL
AFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_001350879
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:XM_047420194
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVL
AFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:NM_022445
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

Gene Symbol:TPK1
Accession:XM_017011972
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQ
IMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLREGFKEIPIC
PAHADG*

Gene Symbol:TPK1
Accession:XM_047420198
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEESLIYLLQPGKHRLHVDTGMEGDWCGLI
PVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_011516043
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAFTPLEPLLSTGNLKYCLVILNQPLDNYFRHLWNKALLRACADGGANRLYDITEGERESFLPEFINGDFDSIRPEVR
EYYATKVLIFSILGTSFKEEKEPFSGRREEKKGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKGKHRLHVDTGMEGDWC
GLIPVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMAIKS*

Gene Symbol:TPK1
Accession:XM_017011981
Location:EXON
Amino Acid Prediction: C to W (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRLAERGCELISTPDQDHTDFTKCLKMLQKKIEEKDLKVDVIVTLGGLAGRFDQIMASVNTLFQATHITPFPIIIIQEES
LIYLLQPGKHRLHVDTGMEGDWCGLIPVGQPWMQVTTTGLKWNLTNDVLAFGTLVSTSNTYDGSGVVTVETDHPLLWTMA
IKS*

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

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

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

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

Gene Symbol:TPK1
Accession:XM_011516046
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000578305 CLINVAR
dbSNP (RS) rs1554523224 CLINVAR
MedGen C3280866 CLINVAR
NCBI Gene TPK1 CLINVAR
OMIM 606370 CLINVAR
  614458 CLINVAR