(used for variant description)
(last modified February 15, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001142415.1 in the AIMP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028166.1, covering AIMP1 transcript NM_001142415.1.
(upstream sequence)
. . . | 02 . . g.14400
aaaccaaagcaaaattctgcctccaag | gattttctgccgtctcttggcaaaa c.-1
. . . . . . g.14460
ATGGCAAATAATGATGCTGTTCTGAAGAGACTGGAGCAGAAGGGTGCAGAGGCAGATCAA c.60
M A N N D A V L K R L E Q K G A E A D Q p.20
. . . . | 03 . g.16852
ATCATTGAATATCTTAAGCAGCAAGTTTCTCTACTTAAGGAGAAAGCAA | TTTTGCAGGCA c.120
I I E Y L K Q Q V S L L K E K A I | L Q A p.40
. . . . . . g.16912
ACTTTGAGGGAAGAGAAGAAACTTCGAGTTGAAAATGCTAAACTGAAGAAAGAAATTGAA c.180
T L R E E K K L R V E N A K L K K E I E p.60
. . . . | 04 . . g.17483
GAACTGAAACAAGAGCTAATTCAGGCAGAAATTCAAAATGGAG | TGAAGCAAATACCATTT c.240
E L K Q E L I Q A E I Q N G V | K Q I P F p.80
. . . . . . g.17543
CCATCTGGTACTCCACTGCACGCTAATTCTATGGTTTCTGAAAATGTGATACAGTCTACA c.300
P S G T P L H A N S M V S E N V I Q S T p.100
. . . . . . g.17603
GCAGTAACAACCGTATCTTCTGGTACCAAAGAACAGATAAAAGGAGGAACAGGAGACGAA c.360
A V T T V S S G T K E Q I K G G T G D E p.120
. . . | 05 . . . g.21091
AAGAAAGCGAAAGAGAAAATTGAAAAGAAAG | GAGAGAAGAAGGAGAAAAAACAGCAATCA c.420
K K A K E K I E K K G | E K K E K K Q Q S p.140
. . . . . . g.21151
ATAGCTGGAAGTGCCGACTCTAAGCCAATAGATGTTTCCCGTCTGGATCTTCGAATTGGT c.480
I A G S A D S K P I D V S R L D L R I G p.160
. . . . . . g.21211
TGCATCATAACTGCTAGAAAACACCCTGATGCAGATTCTTTGTATGTGGAAGAAGTAGAT c.540
C I I T A R K H P D A D S L Y V E E V D p.180
. . . . . . g.21271
GTCGGAGAAATAGCCCCAAGGACAGTTGTCAGTGGCCTGGTGAATCATGTTCCTCTTGAA c.600
V G E I A P R T V V S G L V N H V P L E p.200
| 06 . . . . . . g.26316
CAG | ATGCAAAATCGGATGGTGATTTTACTTTGTAACCTGAAACCTGCAAAGATGAGGGGA c.660
Q | M Q N R M V I L L C N L K P A K M R G p.220
. . . . . . g.26376
GTATTATCTCAAGCAATGGTCATGTGTGCTAGTTCACCAGAGAAAATTGAAATCTTGGCT c.720
V L S Q A M V M C A S S P E K I E I L A p.240
. . . . . | 07 . g.36924
CCTCCAAATGGGTCTGTTCCTGGAGACAGAATTACTTTTGATGCTTTCCCAG | GAGAGCCT c.780
P P N G S V P G D R I T F D A F P G | E P p.260
. . . . . . g.36984
GACAAGGAGCTGAATCCTAAGAAGAAGATTTGGGAGCAGATCCAGCCTGATCTTCACACT c.840
D K E L N P K K K I W E Q I Q P D L H T p.280
. . . . . . g.37044
AATGATGAGTGTGTGGCTACATACAAAGGAGTTCCCTTTGAGGTGAAAGGGAAGGGAGTA c.900
N D E C V A T Y K G V P F E V K G K G V p.300
. . . g.37083
TGTAGGGCTCAAACCATGAGCAACAGTGGAATCAAATAA c.939
C R A Q T M S N S G I K X p.312
. . . . . . g.37143
aatgcttccactaccaaaagacattagagaaaaccttaaaagtaataaagagaaatatat c.*60
. . . . . . g.37203
ttgtcacttatacctaaaatatgagtggctcatttttgcattactctcttctagacttga c.*120
. . . . . . g.37263
ctagtcatttacttggtatatattgttttcattgattggggaaacactagatttttacct c.*180
. . . . . . g.37323
cggtttttgatcatttataatggagagaggaagttgcctatgttttgtaataatttattt c.*240
. . . . . . g.37383
tttagcaggaatattgattagcagcttttttttctttatacacatagataactaactaga c.*300
. . . . . . g.37443
ttaatgtttagtttcttatttgtaggcacaggatgcatgaaatttcaagctctgggattt c.*360
. . . . . . g.37503
tttgtatattgtgtatctgtatcaaaaatatcctctccttttcaaaaatgacaggttgga c.*420
. . . . . . g.37563
aaatgtttgtcagacttattaactggtcatattataataatactgataatgaccaactgc c.*480
. . . . . . g.37623
tcattctgaaagccaaacataaaagctaggagaagtggcatctgaacatttttgctttgc c.*540
. . . . . . g.37683
tgccagagtaaccctgactaataatacaataacagcaatttttttaaaaaactgagattt c.*600
. . . . . . g.37743
cctactggcttgaagtttttctatttagcaaaataattagtaataagttttgactaggtc c.*660
. . . . . . g.37803
taaagaatgaacacattgtaaacagttgccacagtagtttctaataaattgatcataaaa c.*720
. . . . . . g.37863
gcagctatcctttttttttttaattctagcttctttttaaagattatttgggtacctaat c.*780
. . . . . . g.37923
aaaggataatttatatcttattacagactgatattttgctttttcatgtgtcatcatact c.*840
. . . . . . g.37983
gtcagtatattaaaagaaattacagcctaaaacttaacatataccatacatatatattaa c.*900
. . . . . . g.38043
ggtgtcaaatagctattctcactcatcttacaaatattgtaagagcaataaaaattaatt c.*960
. . . . . . g.38103
gaggaattataagcctacaggtcatcagccttgaggtgattactgatgatttgggcttac c.*1020
. . . . . . g.38163
acacatgtcagcaagatagggagtgtggataggggagggctggtagctaacaaggggcct c.*1080
. . . . . . g.38223
cacagagaaatattagtgactttaaccaggtttcagaatctgggccttacctttacaggt c.*1140
. . . . . . g.38283
tcaacaaaagaatggcatcaatagaggcagaagtatagacattgttttaaaaatacacac c.*1200
. . . . . . g.38343
atgcacacacacacaaaacattttagcattatagctgtctgaatccttcaataagaagga c.*1260
. . . . . . g.38403
gaggcacacacaaatacacacactcacacaaaactcaacaaccataaaacaaccctgcat c.*1320
. . . . . . g.38463
gttataaaaggcagaattaaattttatttatttaaatccatggaactctggtaggccagg c.*1380
. . . . . . g.38523
atatattatagtaccattatcaatgtgatattctgaaaatatgaactgagcgtcattaac c.*1440
. . . . . . g.38583
aattgttggtacctaaacacaaaatgaatttcaaaagttactttgttctcaagatatgtc c.*1500
. . . g.38616
attcttttgggaataaatacttctggtgacaaa c.*1533
(downstream sequence)
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