(used for variant description)
(last modified August 6, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_182916.2 in the TRNT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering TRNT1 transcript NM_182916.2.
(upstream sequence)
. . . . g.5042
gttggtgacgtcaccgcgttcaccagcccggaagtgcgcgtg c.-61
. . . . | 02 . . g.7125
gcggcggtggcggctgcggcaacagcggggccg | atgtgtagttggtgactgcctctccag c.-1
. . . . . . g.7185
ATGCTGAGGTGCCTGTATCATTGGCACAGGCCAGTGCTGAACCGTAGGTGGAGTAGGCTG c.60
M L R C L Y H W H R P V L N R R W S R L p.20
. . . . . . g.7245
TGCCTTCCGAAGCAGTATCTATTCACAATGAAGTTGCAGTCTCCCGAATTCCAGTCACTT c.120
C L P K Q Y L F T M K L Q S P E F Q S L p.40
. . | 03 . . . g.15376
TTCACAGAAGGACTGAAGAGTCTGACAG | AATTATTTGTCAAAGAGAATCACGAATTAAGA c.180
F T E G L K S L T E | L F V K E N H E L R p.60
. . . . . . g.15436
ATAGCAGGAGGAGCAGTGAGGGATTTATTAAATGGAGTAAAGCCTCAGGATATAGATTTT c.240
I A G G A V R D L L N G V K P Q D I D F p.80
. . . . . . g.15496
GCCACCACTGCTACCCCTACTCAAATGAAGGAGATGTTTCAGTCGGCTGGGATTCGGATG c.300
A T T A T P T Q M K E M F Q S A G I R M p.100
. . . . | 04 . . g.18612
ATAAACAACAGAGGAGAAAAGCACGGAACAATTACTGCCAGG | CTTCATGAAGAAAATTTT c.360
I N N R G E K H G T I T A R | L H E E N F p.120
. . . . . . g.18672
GAGATTACTACACTACGGATTGATGTCACCACTGATGGAAGACATGCTGAGGTAGAATTT c.420
E I T T L R I D V T T D G R H A E V E F p.140
. . . . . . g.18732
ACAACTGACTGGCAGAAAGATGCGGAACGCAGAGATCTCACTATAAATTCTATGTTTTTA c.480
T T D W Q K D A E R R D L T I N S M F L p.160
| 05 . . . . . . g.22727
G | GTTTTGATGGCACTTTATTTGACTACTTTAATGGTTATGAAGATTTAAAAAATAAGAAA c.540
G | F D G T L F D Y F N G Y E D L K N K K p.180
. . . . . . g.22787
GTTAGATTTGTTGGACATGCTAAACAGAGAATACAAGAGGATTATCTTAGAATTTTAAGA c.600
V R F V G H A K Q R I Q E D Y L R I L R p.200
| 06 . . . . . g.24566
TACTTCAG | GTTTTATGGGAGAATTGTAGACAAACCTGGTGACCATGATCCTGAGACTTTG c.660
Y F R | F Y G R I V D K P G D H D P E T L p.220
. . . . . . g.24626
GAAGCAATTGCAGAAAATGCAAAAGGCTTGGCTGGAATATCAGGAGAAAGGATTTGGGTG c.720
E A I A E N A K G L A G I S G E R I W V p.240
. . . . . . g.24686
GAACTGAAAAAAATTCTTGTTGGTAACCATGTAAATCATTTGATTCACCTTATCTATGAT c.780
E L K K I L V G N H V N H L I H L I Y D p.260
. . | 07 . . . . g.25572
CTTGATGTGGCTCCTTATATAG | GTTTACCTGCTAATGCAAGTTTAGAAGAATTTGACAAA c.840
L D V A P Y I G | L P A N A S L E E F D K p.280
. . . . . . g.25632
GTCAGTAAAAATGTTGATGGTTTTTCACCAAAGCCAGTGACTCTTTTGGCCTCATTATTC c.900
V S K N V D G F S P K P V T L L A S L F p.300
. . . . . . g.25692
AAAGTACAAGATGATGTCACAAAATTGGATTTGAGGTTGAAGATCGCAAAAGAGGAGAAA c.960
K V Q D D V T K L D L R L K I A K E E K p.320
. . . . . . g.25752
AACCTTGGCTTATTTATAGTTAAAAATAGGAAAGATTTAATTAAAGCAACAGATAGTTCA c.1020
N L G L F I V K N R K D L I K A T D S S p.340
. . . | 08 . . . g.26014
GACCCATTGAAACCCTATCAAGACTTCATTATAGAT | TCTAGGGAACCTGATGCAACTACT c.1080
D P L K P Y Q D F I I D | S R E P D A T T p.360
. . . . . . g.26074
CGTGTATGTGAACTACTGAAGTACCAAGGAGAGCACTGTCTCCTAAAGGAAATGCAGCAG c.1140
R V C E L L K Y Q G E H C L L K E M Q Q p.380
. . . . . . g.26134
TGGTCCATTCCTCCATTTCCTGTAAGTGGCCATGACATCAGAAAAGTGGGCATTTCTTCA c.1200
W S I P P F P V S G H D I R K V G I S S p.400
. . . . . . g.26194
GGAAAAGAAATTGGGGCTCTATTACAACAGTTGCGAGAACAGTGGAAAAAAAGTGGTTAC c.1260
G K E I G A L L Q Q L R E Q W K K S G Y p.420
. . . . g.26239
CAAATGGAAAAAGATGAACTTCTGAGTTACATAAAGAAGACCTAA c.1305
Q M E K D E L L S Y I K K T X p.434
. . . . . . g.26299
aactgatggctactaaaaagcagagcatttctggtaagactaaattttctcccctccctc c.*60
. . . . . . g.26359
ttaatgaggttttagagactacaccagaataaaagacagtttaggggacctctgtagaac c.*120
. . . . . . g.26419
aacaagggtcttattttgtgaattatatatttcaagaactaaacagagatccacctttct c.*180
. . . . . . g.26479
ggatctgatttatatcactgaaatgtacagttcttttggaatagtttcacctgagaaaac c.*240
. . . . . . g.26539
atagttggctattatctatcttaacctgttcaggcttttaaaaaaaactgtttttgcata c.*300
. . . . . . g.26599
gggtagtactaagatcttaaaaagtggtaactgtcttgaagaaaaaacgtttattgtttg c.*360
. . . . . . g.26659
tttgcaattgaaataacagggttaccttaacaatgactgtctatgatgtgtcagttctta c.*420
. . . . . . g.26719
tctgaattccaaaataaacctgtgcttaaaaaagaaataattgaccaagtaagtttgcat c.*480
. . . . . . g.26779
aaaatgtgaatactaaatgtgtccccagttgctggcattcatatgtacaggatttgttct c.*540
. . . . . . g.26839
agcaagctatgcttcagtatgtggttgatatttttctgtcacaatgatttctttatgcat c.*600
. . . . . . g.26899
gcagagcctggggaagtcatgggattaacttgagggtcactattgagcctattaattaat c.*660
. . . . . . g.26959
tattgttttaataaaacaaacattggtattggaagataaatatgtttatgtggtatctga c.*720
. . . . . . g.27019
caatgtgtattaggtgtcatatacaatggtaatatgcctgtctttaaagtgttattttat c.*780
. . . . . . g.27079
taattaaaaggatatggctattattatatattctctaaagatttgagtcctaaatgcttt c.*840
. . g.27108
catcaggtaaataaaatgtataatacaaa c.*869
(downstream sequence)
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