(used for variant description)
(last modified October 17, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_017646.4 in the TRIT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering TRIT1 transcript NM_017646.4.
(upstream sequence)
. g.5014
cagactgccataag c.-1
. . . . . . g.5074
ATGGCGTCCGTGGCGGCTGCACGAGCAGTTCCCGTGGGCAGTGGGCTCAGGGGCCTGCAA c.60
M A S V A A A R A V P V G S G L R G L Q p.20
. . . . . . g.5134
CGGACCCTACCTCTTGTAGTGATTCTCGGGGCCACGGGCACCGGCAAATCCACGCTGGCG c.120
R T L P L V V I L G A T G T G K S T L A p.40
. . . . . | 02 . g.31094
TTGCAGCTAGGCCAGCGGCTCGGCGGTGAGATCGTCAGCGCTGACTCCATGCAG | GTCTAT c.180
L Q L G Q R L G G E I V S A D S M Q | V Y p.60
. . . . . . g.31154
GAAGGCCTAGACATCATCACCAACAAGGTTTCTGCCCAAGAGCAGAGAATCTGCCGGCAC c.240
E G L D I I T N K V S A Q E Q R I C R H p.80
. . . . . . g.31214
CACATGATCAGCTTTGTGGATCCTCTTGTGACCAATTACACAGTGGTGGACTTCAGAAAT c.300
H M I S F V D P L V T N Y T V V D F R N p.100
. | 03 . . . . . g.34482
AGAGCAACTGCTCTG | ATTGAAGATATATTTGCCCGAGACAAAATTCCTATTGTTGTGGGA c.360
R A T A L | I E D I F A R D K I P I V V G p.120
. . . . . | 04 . g.35635
GGAACCAATTATTACATTGAATCTCTGCTCTGGAAAGTTCTTGTCAATACCAAG | CCCCAG c.420
G T N Y Y I E S L L W K V L V N T K | P Q p.140
. . . . . . g.35695
GAGATGGGCACTGAGAAAGTGATTGACCGAAAAGTGGAGCTTGAAAAGGAGGATGGTCTT c.480
E M G T E K V I D R K V E L E K E D G L p.160
. . . . . . g.35755
GTACTTCACAAACGCCTAAGCCAGGTGGACCCAGAAATGGCTGCCAAGCTGCATCCACAT c.540
V L H K R L S Q V D P E M A A K L H P H p.180
. . | 05 . . . . g.38284
GACAAACGCAAAGTGGCCAG | GAGCTTGCAAGTTTTTGAAGAAACAGGAATCTCTCATAGT c.600
D K R K V A R | S L Q V F E E T G I S H S p.200
. . . . . . g.38344
GAATTTCTCCATCGTCAACATACGGAAGAAGGTGGTGGTCCCCTTGGAGGTCCTCTGAAG c.660
E F L H R Q H T E E G G G P L G G P L K p.220
. . . . | 06 . . g.40425
TTCTCTAACCCTTGCATCCTTTGGCTTCATGCTGACCAGGCAG | TTCTAGATGAGCGCTTG c.720
F S N P C I L W L H A D Q A V | L D E R L p.240
. . . . . . g.40485
GATAAGAGGGTGGATGACATGCTTGCTGCTGGGCTCTTGGAGGAACTAAGAGATTTTCAC c.780
D K R V D D M L A A G L L E E L R D F H p.260
. . . | 07 . . . g.40870
AGACGCTATAATCAGAAGAATGTTTCGGAAAATAG | CCAGGACTATCAACATGGTATCTTC c.840
R R Y N Q K N V S E N S | Q D Y Q H G I F p.280
. . . . . . g.40930
CAATCAATTGGCTTCAAGGAATTTCACGAGTACCTGATCACTGAGGGAAAATGCACACTG c.900
Q S I G F K E F H E Y L I T E G K C T L p.300
. . | 08 . . . g.41240
GAGACTAGTAACCAGCTTCTAAAGAAAG | GTATTGAGGCTCTGAAACAAGTAACTAAGAGA c.960
E T S N Q L L K K G | I E A L K Q V T K R p.320
. . . . | 09 . . g.43879
TATGCCCGGAAACAAAACCGATGGGTTAAAAACCGTTTTTTGAGCA | GACCTGGTCCCATT c.1020
Y A R K Q N R W V K N R F L S R | P G P I p.340
. . . . . . g.43939
GTCCCCCCTGTCTATGGCTTAGAGGTATCTGATGTCTCGAAGTGGGAAGAGTCTGTTCTT c.1080
V P P V Y G L E V S D V S K W E E S V L p.360
. . . | 10 . . . g.44311
GAACCTGCTCTTGAAATCGTGCAAAGTTTCATCCAG | GGCCACAAGCCTACAGCCACTCCA c.1140
E P A L E I V Q S F I Q | G H K P T A T P p.380
. . . . . . g.44371
ATAAAGATGCCATACAATGAAGCTGAGAACAAGAGAAGTTATCACCTGTGTGACCTCTGT c.1200
I K M P Y N E A E N K R S Y H L C D L C p.400
. . . | 11 . . . g.46618
GATCGAATCATCATTGGGGATCGCGAATGGGCAG | CGCACATAAAATCCAAATCCCACTTG c.1260
D R I I I G D R E W A A | H I K S K S H L p.420
. . . . . . g.46678
AACCAACTGAAGAAAAGAAGAAGATTGGACTCAGATGCTGTCAACACCATAGAAAGTCAG c.1320
N Q L K K R R R L D S D A V N T I E S Q p.440
. . . . . . g.46738
AGTGTTTCCCCAGACCATAACAAAGAACCTAAAGAGAAGGGATCCCCAGGGCAGAATGAT c.1380
S V S P D H N K E P K E K G S P G Q N D p.460
. . g.46762
CAAGAGCTGAAATGCAGCGTTTAA c.1404
Q E L K C S V X p.467
. . . . . . g.46822
gagacatgtccagtggcctttggaaaggtggtggggatccagttcaggagggaggggtat c.*60
. . . . . . g.46882
gtttgtctcccagtctgggcaaaggagtgctatgcggaattctctgcatagcagaaaagc c.*120
. . . . . . g.46942
tcccaccattttcttttgatgtggttttaaagtctcacgttctctataatagaaacagca c.*180
. . . . . . g.47002
ggtcttgtcagctccttgtgtggctgatgtgtctggaaatgatgtagttcaggaaagcat c.*240
. . . . . . g.47062
tttttttttctttgaaccttaaaggttctattattaaaagcagcacagattccacatttt c.*300
. . . . . . g.47122
tatacatgaggatcttctttgtggtgaataccaggattgactgcatccctttaaagaagt c.*360
. . . . . . g.47182
tttatgtccctgactctggctaaaattatctaatttccagatgcttttgtagatgactga c.*420
. . . . . . g.47242
agtatttgtgagccacatattgggagttctagatttgagtgaatggcaggaaagggccat c.*480
. . . . . . g.47302
ctccattgagatgattaagtgaaccaaactagttctcagaattctacagagaaggaggga c.*540
. . . . . . g.47362
atcagactgaggaagctgtgacataggacttgaagaccaaagactttgaaatttgcgagc c.*600
. . . . . . g.47422
tgctcatgtgtgagttattatcactgctgtctttctattgagttacaaatctatattttt c.*660
. . . . . g.47475
attgaagtttaaataaagaaaaaatttacaagagcctctttgatccttaaaaa c.*713
(downstream sequence)
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