(used for variant description)
(last modified November 8, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_002161.5 in the IARS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering IARS transcript NM_002161.5.
(upstream sequence)
. . . g.5033
cggtgcggagcctgtctccttcactggatcccg c.-121
. . . . . . g.5093
cattttcagcgcgttgcatcacctccgtgcgcccggttgcagcgtggacgccggatgagt c.-61
. . . . . . | 02 g.9337
tgcttttaggcttgctggcccgcggggctgtccaggcacgcgaggcccctcag | caacaaa c.-1
. . . . . . g.9397
ATGCTTCAACAAGTTCCAGAAAACATAAATTTTCCTGCTGAAGAAGAGAAAATCTTGGAG c.60
M L Q Q V P E N I N F P A E E E K I L E p.20
. . . . . | 03 g.10475
TTTTGGACTGAATTTAATTGTTTTCAGGAATGCTTAAAGCAATCAAAACATAAACCAAA | A c.120
F W T E F N C F Q E C L K Q S K H K P K | p.40
. . . . . . g.10535
TTTACCTTCTATGATGGTCCTCCTTTTGCAACTGGACTGCCTCACTATGGACATATACTT c.180
F T F Y D G P P F A T G L P H Y G H I L p.60
. . . . . . g.10595
GCGGGTACAATTAAAGATATAGTTACAAGATATGCTCACCAGAGTGGGTTTCATGTTGAC c.240
A G T I K D I V T R Y A H Q S G F H V D p.80
. . . | 04 . . . g.10870
AGAAGATTTGGATGGGATTGCCATGGCTTACCTGTG | GAATATGAAATTGATAAGACACTG c.300
R R F G W D C H G L P V | E Y E I D K T L p.100
. . . . . . g.10930
GGAATCAGAGGACCAGAGGATGTGGCCAAAATGGGGATTACAGAGTATAACAATCAGTGC c.360
G I R G P E D V A K M G I T E Y N N Q C p.120
. . . | 05 . . . g.12162
CGAGCAATTGTGATGAGATATTCTGCTGAGTGGAAG | TCTACTGTTAGCAGACTTGGCCGA c.420
R A I V M R Y S A E W K | S T V S R L G R p.140
. . . . . | 06 g.12918
TGGATTGACTTTGACAATGACTATAAAACTCTGTATCCACAATTCATGGAATCAGTCTG | G c.480
W I D F D N D Y K T L Y P Q F M E S V W | p.160
. . . . . . g.12978
TGGGTCTTCAAACAACTCTATGATAAAGGCCTTGTTTATAGAGGTGTGAAAGTCATGCCC c.540
W V F K Q L Y D K G L V Y R G V K V M P p.180
. . . . . | 07. g.17866
TTCTCTACGGCATGTAACACTCCACTTTCCAACTTCGAGTCACACCAGAATTATAAG | GAT c.600
F S T A C N T P L S N F E S H Q N Y K | D p.200
. . . . . . g.17926
GTTCAAGATCCTTCAGTATTTGTAACTTTCCCTTTGGAAGAAGATGAAACTGTATCTTTA c.660
V Q D P S V F V T F P L E E D E T V S L p.220
. . . . . . g.17986
GTTGCTTGGACAACCACTCCCTGGACTCTACCTAGTAACCTTGCTGTGTGTGTTAATCCA c.720
V A W T T T P W T L P S N L A V C V N P p.240
. . | 08 . . . . g.20505
GAAATGCAATATGTGAAAATTAAAG | ATGTTGCCAGAGGACGATTACTCATTTTAATGGAA c.780
E M Q Y V K I K D | V A R G R L L I L M E p.260
. . . . . | 09 . g.20840
GCCAGATTGTCAGCCCTCTATAAATTGGAGAGTGACTATGAGATCCTTGAAAG | ATTTCCT c.840
A R L S A L Y K L E S D Y E I L E R | F P p.280
. . . . . | 10 . g.24241
GGTGCCTATCTTAAAGGCAAGAAGTACAGGCCCCTGTTTGACTATTTCCTGAAG | TGTAAA c.900
G A Y L K G K K Y R P L F D Y F L K | C K p.300
. . . . . . g.24301
GAGAATGGCGCTTTCACTGTGCTTGTTGACAACTATGTGAAGGAAGAAGAAGGCACAGGG c.960
E N G A F T V L V D N Y V K E E E G T G p.320
. . . | 11 . . . g.27131
GTTGTCCACCAAGCTCCTTACTTCGGTGCT | GAGGACTATCGGGTCTGTATGGACTTTAAC c.1020
V V H Q A P Y F G A | E D Y R V C M D F N p.340
. . . . . . g.27191
ATTATTCGGAAAGACTCACTCCCTGTTTGCCCTGTGGATGCTTCAGGCTGCTTCACAACG c.1080
I I R K D S L P V C P V D A S G C F T T p.360
. . . | 12 . . . g.27707
GAGGTGACAGATTTCGCAGGACAGTATGTGAAG | GATGCTGACAAAAGTATCATCAGGACT c.1140
E V T D F A G Q Y V K | D A D K S I I R T p.380
. . . . . . g.27767
TTGAAGGAACAAGGCCGACTTCTGGTTGCCACCACCTTCACTCACAGCTACCCTTTTTGC c.1200
L K E Q G R L L V A T T F T H S Y P F C p.400
| 13 . . . . . . g.28828
TGGAG | ATCAGACACTCCTCTAATTTACAAAGCAGTGCCCAGCTGGTTTGTGCGAGTGGAG c.1260
W R | S D T P L I Y K A V P S W F V R V E p.420
. . . . | 14 . . g.30472
AACATGGTGGACCAGCTCCTAAGGAACAATGACCTGTGCTACTG | GGTCCCAGAGTTGGTA c.1320
N M V D Q L L R N N D L C Y W | V P E L V p.440
. . . . . . g.30532
CGAGAAAAACGATTTGGAAATTGGCTGAAAGATGCACGTGACTGGACAATTTCCAGAAAC c.1380
R E K R F G N W L K D A R D W T I S R N p.460
. . . . . | 15 . g.33212
AGATACTGGGGCACCCCCATCCCACTGTGGGTCAGCGATGACTTTGAGGAG | GTGGTATGC c.1440
R Y W G T P I P L W V S D D F E E | V V C p.480
. . . . . . g.33272
ATTGGGTCAGTGGCGGAACTTGAAGAACTGTCAGGAGCAAAGATCTCAGATCTCCACAGA c.1500
I G S V A E L E E L S G A K I S D L H R p.500
| 16 . . . . . . g.33688
GAGAG | TGTTGACCACCTGACCATTCCTTCACGCTGTGGGAAGGGATCCTTGCACCGCATC c.1560
E S | V D H L T I P S R C G K G S L H R I p.520
. . . . . . g.33748
TCTGAAGTGTTTGACTGTTGGTTTGAGAGTGGCAGCATGCCCTATGCTCAGGTTCATTAC c.1620
S E V F D C W F E S G S M P Y A Q V H Y p.540
. . . . . . g.33808
CCGTTTGAAAACAAGAGGGAGTTTGAGGATGCTTTTCCTGCAGATTTCATTGCCGAGGGC c.1680
P F E N K R E F E D A F P A D F I A E G p.560
. . | 17 . . . . g.35741
ATCGACCAAACCAGAGGATG | GTTTTATACCCTGCTGGTGCTGGCCACGGCCCTCTTTGGA c.1740
I D Q T R G W | F Y T L L V L A T A L F G p.580
. . . . | 18. . g.38535
CAACCGCCTTTCAAGAACGTAATTGTGAATGGGCTTGTCCTGGCAAG | TGATGGCCAAAAA c.1800
Q P P F K N V I V N G L V L A S | D G Q K p.600
. . . . . . g.38595
ATGAGCAAACGGAAAAAGAATTATCCAGATCCAGTTTCCATCATCCAGAAGTATGGTGCT c.1860
M S K R K K N Y P D P V S I I Q K Y G A p.620
. | 19 . . . . . g.39807
GATGCCCTCAG | ATTATATCTGATTAACTCCCCTGTGGTGAGAGCAGAAAACCTCCGCTTT c.1920
D A L R | L Y L I N S P V V R A E N L R F p.640
. . . . . . g.39867
AAAGAAGAGGGTGTGCGGGACGTCCTTAAGGATGTACTGCTCCCATGGTACAATGCCTAT c.1980
K E E G V R D V L K D V L L P W Y N A Y p.660
. . . | 20 . . . g.41980
CGCTTCTTAATCCAGAACGTTCTGAGGCTCCAGAAG | GAGGAAGAAATAGAATTTCTCTAC c.2040
R F L I Q N V L R L Q K | E E E I E F L Y p.680
. . . . . . g.42040
AATGAGAACACGGTTAGAGAAAGCCCCAACATTACAGACCGGTGGATCCTGTCCTTCATG c.2100
N E N T V R E S P N I T D R W I L S F M p.700
. . . | 21. . . g.45326
CAGTCTCTCATTGGCTTCTTTGAGACTGAAATGGCAG | CTTATAGGCTTTATACTGTGGTG c.2160
Q S L I G F F E T E M A A | Y R L Y T V V p.720
. . . . . . g.45386
CCTCGCCTGGTCAAGTTTGTAGATATTCTGACCAATTGGTATGTTAGAATGAACCGCAGA c.2220
P R L V K F V D I L T N W Y V R M N R R p.740
| 22 . . . . . g.46922
AGATTAAAG | GGTGAAAATGGGATGGAGGATTGTGTCATGGCCCTAGAAACCTTGTTTAGT c.2280
R L K | G E N G M E D C V M A L E T L F S p.760
. . | 23. . . . g.47955
GTTCTGCTTTCTCTTTGCAGACTTATG | GCTCCCTACACACCTTTTCTCACTGAATTGATG c.2340
V L L S L C R L M | A P Y T P F L T E L M p.780
. . . . . . g.48015
TACCAGAATCTAAAGGTGCTGATTGACCCTGTTTCTGTTCAGGACAAGGACACACTCAGC c.2400
Y Q N L K V L I D P V S V Q D K D T L S p.800
. . | 24 . . . g.48498
ATTCACTACCTCATGCTGCCCCGTGTTCG | AGAAGAATTGATTGACAAGAAAACAGAGAGT c.2460
I H Y L M L P R V R | E E L I D K K T E S p.820
. . . . . . g.48558
GCAGTATCTCAGATGCAGTCTGTGATTGAACTTGGAAGAGTGATCAGAGACCGAAAAACT c.2520
A V S Q M Q S V I E L G R V I R D R K T p.840
. | 25 . . . . . g.48863
ATTCCCATAAAG | TATCCTTTGAAAGAAATTGTGGTTATCCATCAAGATCCAGAAGCTCTT c.2580
I P I K | Y P L K E I V V I H Q D P E A L p.860
. . . | 26 . . . g.51229
AAAGATATCAAGTCTTTGGAGAAGTATATCATTGAG | GAACTCAATGTTCGAAAAGTTACA c.2640
K D I K S L E K Y I I E | E L N V R K V T p.880
. . . . . . g.51289
CTGTCTACAGATAAAAACAAGTATGGCATTCGGCTAAGGGCAGAACCAGATCACATGGTC c.2700
L S T D K N K Y G I R L R A E P D H M V p.900
. . . . . . g.51349
CTGGGGAAGCGTCTGAAGGGAGCCTTTAAGGCAGTGATGACGTCCATCAAGCAGTTGAGC c.2760
L G K R L K G A F K A V M T S I K Q L S p.920
. . . | 27 . . . g.53714
AGTGAGGAGCTGGAGCAGTTCCAGAAGACTG | GGACCATTGTTGTGGAAGGCCATGAATTG c.2820
S E E L E Q F Q K T G | T I V V E G H E L p.940
. . . . . . g.53774
CACGATGAAGACATCCGCCTCATGTACACCTTTGATCAGGCCACAGGTGGGACTGCGCAA c.2880
H D E D I R L M Y T F D Q A T G G T A Q p.960
. . | 28 . . . . g.55481
TTTGAAGCACACTCAGATGCTCAG | GCTTTGGTCCTCTTAGATGTCACTCCTGACCAGTCA c.2940
F E A H S D A Q | A L V L L D V T P D Q S p.980
. . . . . . g.55541
ATGGTAGATGAAGGAATGGCTCGGGAAGTCATCAATCGCATACAGAAACTTCGCAAAAAG c.3000
M V D E G M A R E V I N R I Q K L R K K p.1000
| 29 . . . . . . g.56486
| TGCAATCTGGTTCCAACTGATGAAATCACAGTGTACTATAAAGCAAAGTCTGAAGGAACA c.3060
| C N L V P T D E I T V Y Y K A K S E G T p.1020
. . . . . . g.56546
TATCTGAATAGTGTTATTGAAAGCCACACAGAGTTCATATTTACCACCATAAAGGCTCCC c.3120
Y L N S V I E S H T E F I F T T I K A P p.1040
. . . . . | 30. g.57798
TTGAAACCATATCCAGTTTCTCCATCGGATAAAGTCCTTATTCAAGAAAAAACACAG | TTG c.3180
L K P Y P V S P S D K V L I Q E K T Q | L p.1060
. . . . . . g.57858
AAGGGATCTGAACTGGAAATTACACTCACCAGAGGATCTTCCCTTCCTGGTCCTGCTTGT c.3240
K G S E L E I T L T R G S S L P G P A C p.1080
. . . . | 31 . . g.69647
GCATATGTCAATCTTAACATTTGTGCAAATGGCAGTGAACAAG | GTGGAGTATTGCTCCTG c.3300
A Y V N L N I C A N G S E Q G | G V L L L p.1100
. . . . . . g.69707
GAAAATCCAAAAGGTGACAATAGGTTGGACCTTTTAAAGCTGAAGAGTGTTGTCACTAGC c.3360
E N P K G D N R L D L L K L K S V V T S p.1120
. . . . | 32 . g.75278
ATTTTTGGTGTGAAAAATACAGAGCTGGCTGTCTTCCATGATGAAACAG | AAATACAAAAC c.3420
I F G V K N T E L A V F H D E T E | I Q N p.1140
. . . . . . g.75338
CAAACTGACTTACTGAGTCTTAGTGGAAAAACACTTTGTGTGACTGCAGGATCGGCTCCC c.3480
Q T D L L S L S G K T L C V T A G S A P p.1160
. . . . . . g.75398
TCTCTGATCAACAGTTCTAGTACTCTTCTTTGTCAGTATATCAACCTACAGCTCCTGAAT c.3540
S L I N S S S T L L C Q Y I N L Q L L N p.1180
. | 33 . . . . . g.76131
GCAAAGCCACAAG | AGTGTTTAATGGGGACAGTGGGCACTCTCCTGCTTGAAAACCCACTT c.3600
A K P Q E | C L M G T V G T L L L E N P L p.1200
. . . . . . g.76191
GGGCAGAATGGACTCACCCACCAAGGTCTTCTGTATGAAGCAGCCAAGGTGTTTGGCCTT c.3660
G Q N G L T H Q G L L Y E A A K V F G L p.1220
. . . . | 34 . . g.87881
CGGAGCAGGAAGCTAAAGCTGTTTCTGAATGAGACCCAAACGCAGG | AAATTACAGAAGAC c.3720
R S R K L K L F L N E T Q T Q E | I T E D p.1240
. . . . . . g.87941
ATCCCCGTGAAGACTTTGAATATGAAGACTGTGTATGTTTCTGTGTTACCAACAACAGCA c.3780
I P V K T L N M K T V Y V S V L P T T A p.1260
g.87950
GACTTCTAG c.3789
D F X p.1262
. . . . . . g.88010
catgtacttatcaatgttgttcggtcagcccttccctaattacacctatcccctacacat c.*60
. . . . . . g.88070
acatgcacatagacacacacatgaacacactgaagatatttccttcaggtgtgtgtaaaa c.*120
. . . . . . g.88130
tatgctgcttggattgaaattcaaatgggattgattagtcaagtaacttgagacctcaca c.*180
. . . . . . g.88190
gtaatcttcacacttaaccttagacacctatgcagtcatgttgggagcaggttacaatgt c.*240
. . . . . . g.88250
tacttcagcccacagtttatttctatacttgagttcttaagtacagaagatagaagtgat c.*300
. . . . . . g.88310
ttaaatggcatagtatatatatcattttctggccttttaaaatttatttgagacctcttg c.*360
. . . . . . g.88370
atgaaatggacatattatatatttctgccacctggattttcctggataatttgatggaat c.*420
. . . . . . g.88430
attttaagtttcagtaaatcagaacaataaacaaactcagatataaatgtgttgaaagta c.*480
. . . . . . g.88490
attcattctcccatagataaatgaaacttgaaatgtgtaaactttgaagaacataaaaac c.*540
. . . . . . g.88550
ttcatggtggtttcttattaagacagtggactagacatctaataaaacttctttccaaaa c.*600
(downstream sequence)
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