(used for variant description)
(last modified February 11, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_001136035.2 in the TRMT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering TRMT1 transcript NM_001136035.2.
(upstream sequence)
g.5009
gattcgccc c.-121
. . . . . . g.5069
acccactgtgccaacatggcggcgcccaggtcctaattcgggaaacgtgcaccttgacta c.-61
. . . | 02. . . g.5350
attcggttttctgtggctacgagagcag | gcttggcgggcggaggcgccagcggatgtctc c.-1
. . . . . . g.5410
ATGCAAGGATCGTCTCTGTGGCTAAGCCTCACTTTCCGCTCCGCCCGGGTGCTCTCTAGA c.60
M Q G S S L W L S L T F R S A R V L S R p.20
. . . . . . g.5470
GCCCGGTTTTTCGAGTGGCAGTCTCCAGGGCTGCCGAATACAGCAGCGATGGAGAACGGC c.120
A R F F E W Q S P G L P N T A A M E N G p.40
. . . . . . g.5530
ACCGGGCCCTACGGAGAAGAACGTCCACGTGAAGTCCAGGAGACGACAGTCACCGAGGGG c.180
T G P Y G E E R P R E V Q E T T V T E G p.60
. . . . . . g.5590
GCTGCCAAAATCGCCTTTCCCAGTGCCAACGAGGTCTTTTATAACCCGGTGCAGGAATTC c.240
A A K I A F P S A N E V F Y N P V Q E F p.80
. | 03 . . . . . g.5743
AATCGGGACCTGAC | ATGTGCTGTGATCACCGAGTTTGCTCGCATTCAGCTTGGGGCCAAA c.300
N R D L T | C A V I T E F A R I Q L G A K p.100
. | 04 . . . . . g.6031
GGAATCCAGA | TCAAGGTTCCAGGAGAGAAGGACACGCAAAAAGTGGTCGTGGACTTGTCA c.360
G I Q I | K V P G E K D T Q K V V V D L S p.120
. . . . . . g.6091
GAGCAAGAGGAGGAAAAGGTTGAACTGAAAGAGAGTGAAAACCTGGCCTCAGGAGACCAA c.420
E Q E E E K V E L K E S E N L A S G D Q p.140
. . . | 05 . . . g.6310
CCTCGCACAGCGGCCGTGGGGGAGATCTGTGAG | GAAGGCCTGCATGTGCTGGAAGGCCTG c.480
P R T A A V G E I C E | E G L H V L E G L p.160
. . . . . . g.6370
GCAGCTTCAGGCCTACGTTCCATTCGATTTGCCCTAGAGGTGCCTGGGCTCAGATCTGTG c.540
A A S G L R S I R F A L E V P G L R S V p.180
. . . . . . g.6430
GTTGCAAACGATGCCTCCACCCGGGCTGTGGATCTCATACGCCGGAATGTCCAGCTCAAT c.600
V A N D A S T R A V D L I R R N V Q L N p.200
. . . . | 06 . . g.8757
GACGTGGCCCACCTGGTACAGCCGAGCCAAGCAGATGCCCG | GATGCTGATGTACCAGCAC c.660
D V A H L V Q P S Q A D A R | M L M Y Q H p.220
. . . . . . g.8817
CAGAGGGTGTCGGAGAGGTTTGACGTCATCGATCTGGACCCCTATGGCAGCCCAGCCACC c.720
Q R V S E R F D V I D L D P Y G S P A T p.240
. . . | 07. . . g.8955
TTCCTGGATGCAGCTGTGCAGGCTGTGAGTGAAGGAG | GGTTGCTGTGTGTGACCTGCACA c.780
F L D A A V Q A V S E G G | L L C V T C T p.260
. . . . . . g.9015
GACATGGCGGTGTTGGCGGGGAACAGCGGGGAGACGTGCTACAGCAAGTACGGGGCCATG c.840
D M A V L A G N S G E T C Y S K Y G A M p.280
. . . | 08 . . . g.11473
GCCCTCAAGAGCCGGGCCTGCCACGAGATG | GCCCTGAGAATCGTCCTGCACAGCCTGGAC c.900
A L K S R A C H E M | A L R I V L H S L D p.300
. . . . . . g.11533
CTCCGCGCCAACTGCTACCAGCGCTTCGTGGTGCCGCTGCTCAGCATCAGCGCTGACTTC c.960
L R A N C Y Q R F V V P L L S I S A D F p.320
. . . . . | 09 g.11749
TACGTGCGTGTTTTTGTCCGTGTCTTCACCGGCCAGGCCAAGGTCAAGGCCTCAGCCAG | C c.1020
Y V R V F V R V F T G Q A K V K A S A S | p.340
. . . . . . g.11809
AAGCAGGCGCTGGTGTTCCAGTGTGTGGGCTGCGGGGCCTTCCACCTTCAGCGTCTCGGC c.1080
K Q A L V F Q C V G C G A F H L Q R L G p.360
. . | 10 . . . . g.11945
AAAGCGTCAGGAGTCCCCAGCGGCCG | GGCCAAGTTCTCTGCAGCCTGTGGTCCCCCTGTG c.1140
K A S G V P S G R | A K F S A A C G P P V p.380
. . . | 11 . . . g.12089
ACCCCCGAGTGTGAACACTGTGGGCAACGACACCAG | CTTGGTGGCCCCATGTGGGCAGAG c.1200
T P E C E H C G Q R H Q | L G G P M W A E p.400
. . . . . . g.12149
CCCATCCATGACCTGGATTTTGTGGGCCGTGTCCTGGAGGCTGTGAGCGCTAACCCCGGC c.1260
P I H D L D F V G R V L E A V S A N P G p.420
. . . . . | 12 . g.12292
CGCTTCCACACCTCGGAGCGGATCCGAGGGGTCCTGAGCGTCATCACTGAG | GAGCTCCCG c.1320
R F H T S E R I R G V L S V I T E | E L P p.440
. . . . . . g.12352
GACGTGCCTCTGTACTACACCCTGGACCAGCTGAGCAGCACCATCCACTGCAACACACCA c.1380
D V P L Y Y T L D Q L S S T I H C N T P p.460
. | 13. . . . . g.13933
AGCCTCCTGCAGTTGCG | GTCGGCCCTCCTCCACGCTGACTTCCGGGTCTCACTCTCCCAC c.1440
S L L Q L R | S A L L H A D F R V S L S H p.480
. . . . . . g.13993
GCCTGTAAGAACGCTGTGAAGACGGATGCCCCTGCCTCTGCCCTCTGGGACATCATGCGT c.1500
A C K N A V K T D A P A S A L W D I M R p.500
| 14 . . . . . . g.14153
TGCTGG | GAGAAGGAATGTCCGGTGAAACGGGAGCGACTATCAGAGACTAGCCCAGCGTTC c.1560
C W | E K E C P V K R E R L S E T S P A F p.520
. . | 15 . . . . g.16180
CGCATTCTCAGTGTGGAGCCCAG | GCTGCAGGCCAACTTCACCATCCGGGAAGATGCCAAC c.1620
R I L S V E P R | L Q A N F T I R E D A N p.540
. . . . . . g.16240
CCCAGCTCCCGACAGCGAGGACTCAAGCGCTTCCAGGCTAACCCGGAGGCCAACTGGGGT c.1680
P S S R Q R G L K R F Q A N P E A N W G p.560
. . | 16 . . . . g.16390
CCCCGGCCTCGTGCCCGGCCAGG | GGGCAAGGCGGCCGACGAAGCTATGGAGGAGAGACGC c.1740
P R P R A R P G | G K A A D E A M E E R R p.580
. . . . . . g.16450
AGGCTGCTTCAGAACAAGCGGAAGGAGCCGCCGGAAGATGTGGCCCAGCGGGCTGCCCGG c.1800
R L L Q N K R K E P P E D V A Q R A A R p.600
. . . | 17 . . . g.16695
CTCAAGACATTTCCTTGCAAGAGGTTTAAGGAG | GGCACCTGTCAACGCGGGGACCAGTGC c.1860
L K T F P C K R F K E | G T C Q R G D Q C p.620
. . . . . . g.16755
TGCTACTCCCACAGCCCCCCGACACCCAGGGTTTCTGCTGATGCTGCCCCTGACTGTCCA c.1920
C Y S H S P P T P R V S A D A A P D C P p.640
. . . . . . g.16815
GAGACCTCCAACCAGACCCCCCCTGGACCTGGGGCTGCCGCTGGGCCAGGCATAGACTGA c.1980
E T S N Q T P P G P G A A A G P G I D X p.659
. . . g.16850
accaataaagagatgtcacgtcaccttctcccgat c.*35
(downstream sequence)
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