ENST00000596049.5 PIH1D1

Information
Transcript ID
ENST00000596049.5
Genome
hg38
Position
chr19:49,446,369-49,453,494
Strand
-
CDS length
873
Amino acid length
291
Gene symbol
PIH1D1
Gene type
protein-coding
Gene description
PIH1 domain containing 1
Gene Entrez Gene ID
55011
Variants

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Target data :
MGeND data only
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
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Target data :
MGeND data only
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Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Exon
Exon number Start Stop
10 49,446,369 49,446,423
9 49,446,551 49,446,694
8 49,447,024 49,447,099
7 49,447,338 49,447,467
6 49,447,827 49,447,908
5 49,448,001 49,448,062
4 49,449,475 49,449,654
3 49,450,782 49,450,848
2 49,451,485 49,451,578
1 49,453,393 49,453,494
CDS
Exon number Type Start Stop
10 CDS 49,446,382 49,446,423
9 CDS 49,446,551 49,446,694
8 CDS 49,447,024 49,447,099
7 CDS 49,447,338 49,447,467
6 CDS 49,447,827 49,447,908
5 CDS 49,448,001 49,448,062
4 CDS 49,449,475 49,449,654
3 CDS 49,450,782 49,450,848
2 CDS 49,451,485 49,451,574
Other genome
Genome Chromosome Start End Links
hg19 chr19 49,949,626 49,956,751 Link
CDS sequence
ATGGCGAACCCGAAGCTGCTGGGAATGGGGCTAAGCGAGGCGGAGGCGATCGGTGCTGATTCGGCGCGATTTGAGGAGCTGCTGCTGCAGGCCTCGAAGGAGCTCCAGCAAGCCCAGACAACCAGACCAGAATCGACACAAATCCAGCCTCAGCCTGGTTTCTGCATAAAGACCAACTCCTCGGAAGGGAAGGTTTTCATCAACATCTGCCACTCCCCCTCTATCCCTCCTCCCGCCGACGTGACCGAGGAGGAGCTGCTTCAGATGCTAGAGGAGGACCAAGCTGGGTTTCGCATCCCCATGAGTCTGGGAGAGCCTCATGCAGAACTGGATGCAAAAGGCCAGGGATGTACCGCCTACGACGTAGCTGTCAACAGCGACTTCTACCGGAGGATGCAGAACAGCGATTTCTTGCGGGAGCTCGTGATCACCATCGCCAGGGAGGGCCTTGAGGACAAATACAACTTGCAGCTGAATCCGGAATGGCGCATGATGAAGAACCGGCCATTCATGGGCTCCATCTCGCAGCAGAACATCCGCTCGGAGCAGCGTCCTCGGATCCAGGAGCTGGGGGACCTGTACACGCCCGCCCCCGGGAGAGCTGAGTCAGGGCCTGAAAAGCCTCACCTGAACCTGTGGCTGGAAGCCCCCGACCTCCTCTTGGCCGAAGTTGACCTCCCCAAACTGGATGGAGCCCTGGGGCTGTCGCTGGAGATCGGGGAGAACCGCCTGGTGATGGGGGGCCCCCAGCAGCTGTATCATCTAGACGCTTATATCCCGCTGCAGATCAACTCTCATGAGAGCAAGGCAGCCTTCCACCGGAAGAGAAAGCAATTAATGGTGGCCATGCCGCTTCTGCCGGTGCCTTCTTGA
Amino sequence
MANPKLLGMGLSEAEAIGADSARFEELLLQASKELQQAQTTRPESTQIQPQPGFCIKTNSSEGKVFINICHSPSIPPPADVTEEELLQMLEEDQAGFRIPMSLGEPHAELDAKGQGCTAYDVAVNSDFYRRMQNSDFLRELVITIAREGLEDKYNLQLNPEWRMMKNRPFMGSISQQNIRSEQRPRIQELGDLYTPAPGRAESGPEKPHLNLWLEAPDLLLAEVDLPKLDGALGLSLEIGENRLVMGGPQQLYHLDAYIPLQINSHESKAAFHRKRKQLMVAMPLLPVPS*