ENST00000430002.6 PTH1R

Information
Transcript ID
ENST00000430002.6
Genome
hg19
Position
chr3:46,923,739-46,945,245
Strand
+
CDS length
1,782
Amino acid length
594
Gene symbol
PTH1R
Gene type
protein-coding
Gene description
parathyroid hormone 1 receptor
Gene Entrez Gene ID
5745
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
1 46,923,739 46,923,756
2 46,925,002 46,925,124
3 46,935,397 46,935,499
4 46,937,225 46,937,359
5 46,939,345 46,939,455
6 46,939,564 46,939,682
7 46,939,868 46,939,962
8 46,940,152 46,940,347
9 46,940,793 46,940,946
10 46,942,515 46,942,575
11 46,942,904 46,942,970
12 46,943,256 46,943,350
13 46,944,016 46,944,157
14 46,944,239 46,944,280
15 46,944,760 46,945,245
CDS
Exon number Type Start Stop
2 CDS 46,925,050 46,925,124
3 CDS 46,935,397 46,935,499
4 CDS 46,937,225 46,937,359
5 CDS 46,939,345 46,939,455
6 CDS 46,939,564 46,939,682
7 CDS 46,939,868 46,939,962
8 CDS 46,940,152 46,940,347
9 CDS 46,940,793 46,940,946
10 CDS 46,942,515 46,942,575
11 CDS 46,942,904 46,942,970
12 CDS 46,943,256 46,943,350
13 CDS 46,944,016 46,944,157
14 CDS 46,944,239 46,944,280
15 CDS 46,944,760 46,945,146
Other genome
Genome Chromosome Start End Links
hg38 chr3 46,882,249 46,903,755 Link
CDS sequence
ATGGGGACCGCCCGGATCGCACCCGGCCTGGCGCTCCTGCTCTGCTGCCCCGTGCTCAGCTCCGCGTACGCGCTGGTGGATGCAGATGACGTCATGACTAAAGAGGAACAGATCTTCCTGCTGCACCGTGCTCAGGCCCAGTGCGAAAAACGGCTCAAGGAGGTCCTGCAGAGGCCAGCCAGCATAATGGAATCAGACAAGGGATGGACATCTGCGTCCACATCAGGGAAGCCCAGGAAAGATAAGGCATCTGGGAAGCTCTACCCTGAGTCTGAGGAGGACAAGGAGGCACCCACTGGCAGCAGGTACCGAGGGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTGGGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCACAAAGGCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCACAACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAACGGGAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCGTCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAGGCGGCTGCACTGCACGCGCAACTACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAGGACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAGCTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTACGCGGGCTGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTGGTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTACCTGTGGGGCTTCACAGTCTTCGGCTGGGGTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTCAGTGTCAGAGCTACCCTGGCCAACACCGGGTGCTGGGACTTGAGCTCCGGGAACAAAAAGTGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTGCTCAACTTCATCCTCTTCATCAATATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGGCAGCAGTACCGGAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCACTACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAGATGCACTATGAGATGCTCTTCAACTCCTTCCAGGGATTTTTTGTCGCAATCATATACTGTTTCTGCAATGGCGAGGTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCACTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTGTCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCCCGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCAGGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGACGATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGGCCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGA
Amino sequence
MGTARIAPGLALLLCCPVLSSAYALVDADDVMTKEEQIFLLHRAQAQCEKRLKEVLQRPASIMESDKGWTSASTSGKPRKDKASGKLYPESEEDKEAPTGSRYRGRPCLPEWDHILCWPLGAPGEVVAVPCPDYIYDFNHKGHAYRRCDRNGSWELVPGHNRTWANYSECVKFLTNETREREVFDRLGMIYTVGYSVSLASLTVAVLILAYFRRLHCTRNYIHMHLFLSFMLRAVSIFVKDAVLYSGATLDEAERLTEEELRAIAQAPPPPATAAAGYAGCRVAVTFFLYFLATNYYWILVEGLYLHSLIFMAFFSEKKYLWGFTVFGWGLPAVFVAVWVSVRATLANTGCWDLSSGNKKWIIQVPILASIVLNFILFINIVRVLATKLRETNAGRCDTRQQYRKLLKSTLVLMPLFGVHYIVFMATPYTEVSGTLWQVQMHYEMLFNSFQGFFVAIIYCFCNGEVQAEIKKSWSRWTLALDFKRKARSGSSSYSYGPMVSHTSVTNVGPRVGLGLPLSPRLLPTATTNGHPQLPGHAKPGTPALETLETTPPAMAAPKDDGFLNGSCSGLDEEASGPERPPALLQEEWETVM*