(used for variant description)
(last modified June 7, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001378.2 in the DYNC1I2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering DYNC1I2 transcript NM_001378.2.
(upstream sequence)
. . . . g.4985
aattcccagaacgcactgctcgtcgcacgcaggttttccttgttgccg c.-181
. . . . . . g.5045
gggtttgtagttcttctcgatcgtgtcagtttgtaaggcgagggcggaagttggattcct c.-121
. . . . . . g.5105
ggcctgagaatattaggcgtagttttccagtttttggcaaagcggaaatacttaaggccc c.-61
. . . . . . | 02 g.7684
ctgggttgactgggttctttgttttatctaccggcttctgctttacgacag | gtcacaaac c.-1
. . . . . . g.7744
ATGTCAGACAAAAGTGAATTAAAGGCTGAGTTGGAACGTAAGAAGCAGCGACTGGCCCAA c.60
M S D K S E L K A E L E R K K Q R L A Q p.20
. . . . | 03 . g.10317
ATCAGAGAGGAAAAGAAGAGAAAAGAAGAAGAAAGGAAAAAAAAAGAA | ACAGACCAGAAG c.120
I R E E K K R K E E E R K K K E | T D Q K p.40
. . . . . . g.10377
AAGGAAGCTGTTGCTCCTGTGCAAGAAGAATCAGATCTTGAAAAAAAAAGGAGAGAAGCT c.180
K E A V A P V Q E E S D L E K K R R E A p.60
. . . . | 04 . . g.24089
GAAGCATTGCTTCAAAGCATGGGGCTAACTCCAGAATCCCCCATTG | TTTTTTCTGAATAC c.240
E A L L Q S M G L T P E S P I V | F S E Y p.80
| 05 . . . . . . g.24871
TGGG | TCCCTCCTCCTATGTCTCCATCCTCCAAATCTGTGAGCACTCCAAGTGAAGCTGGA c.300
W V | P P P M S P S S K S V S T P S E A G p.100
. . . | 06 . . . g.30320
AGCCAAGACTCTGGAGATGGCGCCGTGGGATCTAG | GACGCTGCATTGGGATACAGATCCA c.360
S Q D S G D G A V G S R | T L H W D T D P p.120
. . . | 07 . . . g.32881
TCAGTTCTTCAGCTTCACTCAGATTCCGATTTGGG | ACGAGGACCTATTAAACTTGGAATG c.420
S V L Q L H S D S D L G | R G P I K L G M p.140
. . . . . . g.32941
GCTAAAATCACGCAAGTCGACTTTCCTCCTCGAGAAATTGTCACGTATACAAAGGAAACT c.480
A K I T Q V D F P P R E I V T Y T K E T p.160
. . . | 08 . . . g.43175
CAGACTCCAGTTATGGCTCAACCCAAAGAAG | ATGAAGAGGAAGATGATGATGTAGTGGCT c.540
Q T P V M A Q P K E D | E E E D D D V V A p.180
. . . . . . g.43235
CCTAAACCACCTATTGAACCTGAAGAAGAGAAAACTTTAAAGAAAGATGAGGAAAATGAT c.600
P K P P I E P E E E K T L K K D E E N D p.200
| 09. . . . . . g.43500
AGTAAAG | CTCCCCCTCATGAGCTGACTGAAGAAGAAAAGCAACAAATCTTGCACTCTGAG c.660
S K A | P P H E L T E E E K Q Q I L H S E p.220
. . . . . . g.43560
GAATTTTTAAGTTTCTTTGACCATTCTACAAGAATTGTAGAAAGAGCTCTTTCTGAGCAG c.720
E F L S F F D H S T R I V E R A L S E Q p.240
. . . . . | 10 . g.43732
ATTAACATCTTCTTTGACTATAGTGGGAGAGATTTGGAAGACAAAGAAGG | AGAGATTCAA c.780
I N I F F D Y S G R D L E D K E G | E I Q p.260
. . . . . . g.43792
GCAGGTGCTAAACTGTCATTAAATCGACAATTTTTTGACGAACGTTGGTCAAAGCATCGG c.840
A G A K L S L N R Q F F D E R W S K H R p.280
. . . | 11 . . . g.44349
GTGGTTAGTTGTTTGGATTGGTCATCTCAG | TATCCGGAGTTACTCGTGGCTTCCTATAAC c.900
V V S C L D W S S Q | Y P E L L V A S Y N p.300
. . . . . . g.44409
AACAATGAAGATGCCCCTCATGAGCCTGATGGTGTGGCCCTTGTATGGAATATGAAATAC c.960
N N E D A P H E P D G V A L V W N M K Y p.320
. . . | 12 . . . g.45373
AAAAAAACTACCCCAGAGTATGTGTTTCACTGCCAG | TCAGCTGTGATGTCTGCCACATTT c.1020
K K T T P E Y V F H C Q | S A V M S A T F p.340
. . . . . . g.45433
GCAAAATTTCATCCAAATCTTGTTGTTGGTGGTACATATTCAGGCCAAATTGTGCTTTGG c.1080
A K F H P N L V V G G T Y S G Q I V L W p.360
. . . . . . g.45493
GATAACCGTAGCAATAAAAGAACTCCAGTGCAAAGAACTCCACTGTCAGCAGCTGCACAC c.1140
D N R S N K R T P V Q R T P L S A A A H p.380
| 13 . . . . . . g.45890
ACA | CACCCTGTATATTGTGTAAATGTTGTTGGAACACAAAATGCTCACAATCTGATTAGC c.1200
T | H P V Y C V N V V G T Q N A H N L I S p.400
. . . . . | 14. g.46248
ATCTCTACTGATGGAAAAATTTGTTCATGGAGTCTGGACATGCTTTCCCATCCACAG | GAT c.1260
I S T D G K I C S W S L D M L S H P Q | D p.420
. . . . . . g.46308
AGCATGGAGTTGGTTCATAAACAGTCAAAAGCAGTAGCTGTGACATCTATGTCCTTCCCT c.1320
S M E L V H K Q S K A V A V T S M S F P p.440
. . . . . . g.46368
GTTGGAGATGTCAACAACTTTGTTGTTGGGAGTGAAGAAGGTTCTGTGTACACAGCATGC c.1380
V G D V N N F V V G S E E G S V Y T A C p.460
. | 15 . . . . . g.47286
CGCCATGGCAG | CAAAGCTGGAATCAGTGAGATGTTTGAGGGGCATCAAGGACCAATCACT c.1440
R H G S | K A G I S E M F E G H Q G P I T p.480
. . . . . . g.47346
GGCATCCATTGTCATGCAGCTGTTGGAGCAGTAGACTTCTCACATCTTTTTGTCACTTCA c.1500
G I H C H A A V G A V D F S H L F V T S p.500
. . . | 16 . . . g.61601
TCGTTTGACTGGACAGTAAAGCTTTGGACAACTAAG | AATAACAAGCCTTTGTATTCATTT c.1560
S F D W T V K L W T T K | N N K P L Y S F p.520
. . . . . . g.61661
GAAGATAATGCAGACTATGTTTATGATGTTATGTGGTCACCTACCCACCCAGCCCTGTTT c.1620
E D N A D Y V Y D V M W S P T H P A L F p.540
. . . . . | 17. g.63333
GCCTGTGTGGATGGCATGGGGAGATTGGATTTGTGGAATCTCAATAATGACACAGAG | GTA c.1680
A C V D G M G R L D L W N L N N D T E | V p.560
. . . . . . g.63393
CCAACTGCCAGCATTTCTGTGGAGGGTAATCCTGCTCTTAATCGTGTGAGATGGACCCAT c.1740
P T A S I S V E G N P A L N R V R W T H p.580
. . . . . . g.63453
TCTGGCAGAGAGATTGCTGTGGGTGATTCTGAAGGACAGATTGTTATATACGATGTGGGA c.1800
S G R E I A V G D S E G Q I V I Y D V G p.600
| 18 . . . . . . g.65361
GAG | CAGATTGCTGTTCCCCGCAATGATGAATGGGCACGGTTTGGCCGAACACTTGCAGAA c.1860
E | Q I A V P R N D E W A R F G R T L A E p.620
. . . . . g.65418
ATTAATGCAAACCGAGCTGATGCAGAGGAGGAAGCAGCTACCCGAATACCTGCTTAG c.1917
I N A N R A D A E E E A A T R I P A X p.638
. . . . . . g.65478
ttcctgaaaaggggagtgtaactagtggatttgggaaaggttcttaagtagatcctgaga c.*60
. . . . . . g.65538
ctatttgcatgcttctgtctaaatgataattaaaaggaaatttcatggattaaaccatgg c.*120
. . . . . . g.65598
gtttaatgcagcaaggaaacttacaatgtccctttatatataacatgcatcttgttttgg c.*180
. . . . . . g.65658
atttgtgtcattttttaatatagctgattgacttcacagaaagcagcttttttgaattct c.*240
. . . . . . g.65718
aatacataggtgtatatttggtattagttattttgagttcttttcaacttataacactgt c.*300
. . . . . . g.65778
atacagttatttctaaagcacagatgaaataagttctgcatatttttaaataatcacagt c.*360
. . . . . . g.65838
tccctgttatacagataatgttctcactacccataatatgtaggaacattgtttctcctt c.*420
. . . . . . g.65898
agccgtagtatgcatacacctatccatgttcattctgacatcctttgttgtctttataat c.*480
. . . . . . g.65958
tcatgtggtagttacctataaataaaaacaaatatgcgttaacttttcaaattttcattt c.*540
. . . . . . g.66018
ttactccttacaacttgaatttttccatcttttataaaatatattttttccatatctttc c.*600
. . . . . . g.66078
tttaagctcctgctgtgagcagccatctcaaatcctatagagctgtgtaccctaaatata c.*660
. . . . . . g.66138
ccatgtggtatatactatagatctcccagtgcattatgaattgatgtctagataatctgt c.*720
. . . . . . g.66198
tggtgaaaaaatttcccctaggttaacttttgctttactactttatattctttccatcta c.*780
. . . . . . g.66258
agacatatttcctttaaaggataaatagaaagctgcctataattttcactgattaagaac c.*840
. . . . . . g.66318
tatgtatgtgacctcactgagagtaaaatctttgagagaaattgatttcatgatttcagt c.*900
. . . . . . g.66378
agccataaaggcaaagtgctcaaatggacccatactttggcattaaaatctacatcttga c.*960
. . . . . . g.66438
gatctgttgccacagcattgtctacaagtccgaaaggtaggtgacaaatatctaagaatc c.*1020
. . . . . . g.66498
agtattgaaatcagtgaatttcaggaatagaggaaaggactatgatcagatcttgatttt c.*1080
. . . . . . g.66558
atctactttaaattgtctatttatttgatcccaaccttttgtacttctgaagtgtaactg c.*1140
. . . . . . g.66618
tcttttattcaacagaacatgaactaggaagagagattagaaaacagaatgtgaacattt c.*1200
. . . . . . g.66678
ttcttttaataattgtaacaaagatttgttgggagagaaatttccaaataatgagtagtg c.*1260
. . . . . . g.66738
tatagtgtaaggaataattgacctggaattattggccccaaactctgattcttgctgaag c.*1320
. . . . . . g.66798
catctatgagaagtgtgattttagccaagtctgtgccgcattctttatatgtaggaatta c.*1380
. . . . . . g.66858
agttttgatttaatgatttctgaattttctttcagctctactcaattaaggggtatcagt c.*1440
. . . . . . g.66918
atgtgaaatggaatatagaaaagtaggcaattctttacttttctatattcagtttcataa c.*1500
. . . . . . g.66978
attaataccccataattgcccattatataccaaagacaatatctcaagttatctcattgt c.*1560
. . . . . . g.67038
agcagtgtctgtgagtcaaaacttcaattttagtagagtcacactttctttatatagaaa c.*1620
. . . . . . g.67098
aattcatgtactcactactcatgtagttactgtatctttaccttcagtttgtaaaaatga c.*1680
. . . . . . g.67158
ctaaaagtagggaaaacaagtgttaaaacataatggataagaaaaggttggaaatcatat c.*1740
. . . . . . g.67218
ggcaaatcacatgttcctcagcctcaaggtgtgtttagttgtgaaagaaagaataaaatt c.*1800
. . . . . . g.67278
gtttaaatatttcactttttgggaatgacttctcccctactcccccagaaaatgcgatgt c.*1860
. . . . . . g.67338
atacctttgcccattcaactttagtccatatttttaggaacacacaaatttactttaagg c.*1920
. . . . . . g.67398
aattacctttaaagttgactatataatagcaaaagagaaagtattgagactgtcagtgtt c.*1980
. . . . . . g.67458
gataaagcttctagcaagattaggttgactagaagtgcatcacagttctttatactttta c.*2040
. . . . . . g.67518
gaactaaaagccttataattttgaaaaatatccagttacagaaattgtaccttatcagtt c.*2100
. . . . . . g.67578
atactttttttctgagtaagaaaacaagctatagctttctggttaatttcttatttttcg c.*2160
. . . . . . g.67638
ttgtttggtttttgtctttttgagtggaacgttaaagtttattaccttcatgttaaggaa c.*2220
. . . . g.67687
tatccagcttcacagacaattaacttgcaataaatctctgaaataatca c.*2269
(downstream sequence)
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