(used for variant description)
(last modified July 11, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_004082.4 in the DCTN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008735.2, covering DCTN1 transcript NM_004082.4.
(upstream sequence)
. g.16750
agaggctagcacggttcc c.-301
. . . . . . g.16810
tgacaagtctagagcagcactagcgcagagtgagactcatcagctggcaagcaggattct c.-241
. . . . . . g.16870
gtgtctctgggttcaggaatcctcaggcagcagaggggacttgctcctcagcccccatca c.-181
. . . . . . g.16930
ctgcccccacccctacccgtgtaggccaccgagtgaggcccatggactggggagggctgt c.-121
. . . . . . g.16990
gcctgacgactcctgtgtccctctatgagggcccagcgccctgaccctcctgcctaggtt c.-61
. . . . . . g.17050
tctaccttttctctctgtctttggccagctgggggagggggtagaggccgggtgagcaac c.-1
. . . | 02 . . . g.18869
ATGGCACAGAGCAAGAGGCACGTGTACAGCCGG | ACGCCCAGCGGCAGCAGGATGAGTGCG c.60
M A Q S K R H V Y S R | T P S G S R M S A p.20
. . . . . . g.18929
GAGGCAAGCGCCCGGCCTCTGCGGGTGGGCTCCCGTGTAGAGGTGATTGGAAAAGGCCAC c.120
E A S A R P L R V G S R V E V I G K G H p.40
. . . . . . g.18989
CGAGGCACTGTGGCCTATGTTGGAGCCACACTGTTTGCCACTGGCAAATGGGTAGGCGTG c.180
R G T V A Y V G A T L F A T G K W V G V p.60
. . . . . . g.19049
ATTCTGGATGAAGCAAAGGGCAAAAATGATGGAACTGTTCAAGGCAGGAAGTACTTCACT c.240
I L D E A K G K N D G T V Q G R K Y F T p.80
. . . | 03 . . g.19382
TGTGATGAAGGGCATGGCATCTTTGTGCGCCAGTCCCAG | ATCCAGGTATTTGAAGATGGA c.300
C D E G H G I F V R Q S Q | I Q V F E D G p.100
. . . . . | 04 g.19623
GCAGATACTACTTCCCCAGAGACACCTGATTCTTCTGCTTCAAAAGTCCTCAAAAGAG | AG c.360
A D T T S P E T P D S S A S K V L K R E | p.120
. . . | 05 . . | 06 . g.22753
GGAACTGATACAACTGCAAAGACTAGCAAACTG | CGGGGACTGAAGCCTAAGAAG | GCACCG c.420
G T D T T A K T S K L | R G L K P K K | A P p.140
. | 07 . . | 08 . . . g.25386
ACAGCCCGAAAG | ACCACAACTCGGCGACCCAAG | CCCACGCGCCCAGCCAGTACTGGGGTG c.480
T A R K | T T T R R P K | P T R P A S T G V p.160
. . . . . . g.25446
GCTGGGGCCAGTAGCTCCCTGGGCCCCTCTGGCTCAGCGTCAGCAGGTGAGCTGAGCAGC c.540
A G A S S S L G P S G S A S A G E L S S p.180
. . . . . . g.25506
AGTGAGCCCAGCACCCCGGCTCAGACTCCGCTGGCAGCACCCATCATCCCCACGCCGGTC c.600
S E P S T P A Q T P L A A P I I P T P V p.200
. . . . | 09 . . g.25926
CTCACCTCTCCTGGAGCAGTCCCCCCGCTTCCTTCCCCATCCAAG | GAGGAGGAGGGACTA c.660
L T S P G A V P P L P S P S K | E E E G L p.220
. . . . . . g.25986
AGGGCTCAGGTGCGGGACCTGGAGGAGAAACTAGAGACCCTGAGACTGAAACGGGCAGAA c.720
R A Q V R D L E E K L E T L R L K R A E p.240
. . . . . . g.26046
GACAAAGCAAAGCTAAAAGAGCTGGAGAAACACAAAATCCAGCTGGAGCAGGTGCAGGAA c.780
D K A K L K E L E K H K I Q L E Q V Q E p.260
. . . . . . g.26106
TGGAAGAGCAAAATGCAGGAGCAGCAGGCCGACCTGCAGCGGCGCCTCAAGGAGGCGAGA c.840
W K S K M Q E Q Q A D L Q R R L K E A R p.280
| 10 . . . . . . g.26319
AAG | GAAGCCAAGGAGGCGCTGGAGGCAAAGGAACGCTATATGGAGGAGATGGCTGATACT c.900
K | E A K E A L E A K E R Y M E E M A D T p.300
. . . . . . g.26379
GCTGATGCCATTGAGATGGCCACTTTGGACAAGGAGATGGCTGAAGAGCGGGCTGAGTCC c.960
A D A I E M A T L D K E M A E E R A E S p.320
. . . . . . g.26439
CTGCAGCAGGAGGTGGAGGCACTGAAGGAGCGGGTGGACGAGCTCACTACTGACTTAGAG c.1020
L Q Q E V E A L K E R V D E L T T D L E p.340
. . | 11 . . . g.26575
ATCCTCAAGGCTGAGATTGAAGAGAAGG | GCTCAGATGGCGCTGCATCCAGTTATCAGCTC c.1080
I L K A E I E E K G | S D G A A S S Y Q L p.360
. . . . | 12. . g.26755
AAGCAGCTTGAGGAGCAGAATGCCCGCCTGAAGGATGCCCTGGTGAG | GATGCGGGATCTT c.1140
K Q L E E Q N A R L K D A L V R | M R D L p.380
. . . . . . g.26815
TCTTCCTCAGAGAAGCAGGAGCATGTGAAGCTCCAGAAGCTCATGGAAAAGAAGAACCAA c.1200
S S S E K Q E H V K L Q K L M E K K N Q p.400
. . . . . . g.26875
GAGCTGGAAGTTGTGAGGCAACAGCGGGAGCGTCTGCAGGAGGAGCTAAGCCAGGCAGAG c.1260
E L E V V R Q Q R E R L Q E E L S Q A E p.420
. . | 13. . . . g.27051
AGCACCATTGATGAGCTCAAGGAGCAG | GTGGATGCTGCTCTGGGTGCTGAGGAGATGGTG c.1320
S T I D E L K E Q | V D A A L G A E E M V p.440
. . . . . . g.27111
GAGATGCTGACAGATCGGAACCTGAATCTGGAAGAGAAAGTGCGCGAGTTGAGGGAGACT c.1380
E M L T D R N L N L E E K V R E L R E T p.460
. | 14 . . . . . g.27644
GTGGGAGACTTG | GAAGCGATGAATGAGATGAACGATGAGCTGCAGGAGAATGCACGTGAG c.1440
V G D L | E A M N E M N D E L Q E N A R E p.480
. . . . . . g.27704
ACAGAACTGGAGCTGCGGGAGCAGCTGGACATGGCAGGCGCGCGGGTTCGTGAGGCCCAG c.1500
T E L E L R E Q L D M A G A R V R E A Q p.500
. . . . . . g.27764
AAGCGTGTGGAGGCAGCCCAGGAGACGGTTGCAGACTACCAGCAGACCATCAAGAAGTAC c.1560
K R V E A A Q E T V A D Y Q Q T I K K Y p.520
. . | 15 . . . . g.27909
CGCCAGCTGACCGCCCATCTACAG | GATGTGAATCGGGAACTGACAAACCAGCAGGAAGCA c.1620
R Q L T A H L Q | D V N R E L T N Q Q E A p.540
. . . . . . g.27969
TCTGTGGAGAGGCAACAGCAGCCACCTCCAGAGACCTTTGACTTCAAAATCAAGTTTGCT c.1680
S V E R Q Q Q P P P E T F D F K I K F A p.560
. . | 16 . . . . g.28246
GAGACTAAGGCCCATGCCAAG | GCAATTGAGATGGAATTGAGGCAGATGGAGGTGGCCCAG c.1740
E T K A H A K | A I E M E L R Q M E V A Q p.580
. . . . . . g.28306
GCCAATCGACACATGTCCCTGCTGACAGCCTTCATGCCTGACAGCTTCCTTCGGCCAGGT c.1800
A N R H M S L L T A F M P D S F L R P G p.600
. . . . . | 17 . g.28962
GGGGACCATGACTGCGTTCTGGTGCTGTTGCTCATGCCTCGTCTCATTTGCAAG | GCAGAG c.1860
G D H D C V L V L L L M P R L I C K | A E p.620
. . . . . . g.29022
CTGATCCGGAAGCAGGCCCAGGAGAAGTTTGAACTAAGTGAGAACTGTTCAGAGCGGCCT c.1920
L I R K Q A Q E K F E L S E N C S E R P p.640
. . . . . . g.29082
GGGCTGCGAGGAGCTGCTGGGGAGCAACTCAGCTTTGCTGCTGGACTGGTGTACTCGCTG c.1980
G L R G A A G E Q L S F A A G L V Y S L p.660
. . . | 18 . . . g.29248
AGCCTGCTGCAGGCCACGCTACACCGCTATGAGCA | TGCCCTCTCTCAGTGCAGTGTGGAT c.2040
S L L Q A T L H R Y E H | A L S Q C S V D p.680
. . . . . . g.29308
GTGTATAAGAAAGTGGGCAGCCTGTACCCTGAGATGAGTGCCCATGAGCGCTCCTTGGAT c.2100
V Y K K V G S L Y P E M S A H E R S L D p.700
. . . . . . g.29368
TTCCTCATTGAACTGCTGCACAAGGATCAGCTGGATGAGACTGTCAATGTGGAGCCTCTC c.2160
F L I E L L H K D Q L D E T V N V E P L p.720
. . | 19 . . . . g.29703
ACCAAGGCCATCAAGTACTATCAG | CATCTGTACAGCATCCACCTTGCCGAACAGCCTGAG c.2220
T K A I K Y Y Q | H L Y S I H L A E Q P E p.740
. . . | 20 . . . g.30007
GACTGTACTATGCAGCTGGCTGACCACATTAAG | TTCACGCAGAGTGCTCTGGACTGCATG c.2280
D C T M Q L A D H I K | F T Q S A L D C M p.760
. . . | 21 . . . g.30179
AGTGTGGAGGTAGGACGGCTGCGTGCCTTCTTGCAG | GGTGGGCAGGAGGCTACAGATATT c.2340
S V E V G R L R A F L Q | G G Q E A T D I p.780
. . . . . . g.30239
GCCCTCCTGCTCCGGGATCTGGAAACTTCATGCAGTGACATCCGCCAGTTCTGCAAGAAG c.2400
A L L L R D L E T S C S D I R Q F C K K p.800
. . . . . . g.30299
ATCCGAAGGCGAATGCCAGGGACAGATGCTCCTGGGATCCCAGCTGCACTGGCCTTTGGA c.2460
I R R R M P G T D A P G I P A A L A F G p.820
| 22 . . . . . . g.30521
CCACAG | GTATCTGACACGCTCCTAGACTGCAGGAAACACTTGACGTGGGTCGTGGCTGTG c.2520
P Q | V S D T L L D C R K H L T W V V A V p.840
. . . . . . g.30581
CTGCAGGAGGTGGCAGCTGCTGCTGCCCAGCTCATTGCCCCACTGGCAGAGAATGAGGGG c.2580
L Q E V A A A A A Q L I A P L A E N E G p.860
. . . . | 23 . g.30724
CTACTTGTGGCTGCTCTGGAGGAACTGGCTTTCAAAGCAAGCGAGCAG | ATCTATGGGACC c.2640
L L V A A L E E L A F K A S E Q | I Y G T p.880
. . . . . . g.30784
CCCTCCAGCAGCCCCTATGAGTGTCTGCGCCAGTCATGCAACATCCTCATCAGTACCATG c.2700
P S S S P Y E C L R Q S C N I L I S T M p.900
. . . . . . g.30844
AACAAGCTGGCCACAGCCATGCAGGAGGGGGAGTATGATGCAGAGCGGCCCCCCAGCAAG c.2760
N K L A T A M Q E G E Y D A E R P P S K p.920
| 24 . . . . . . g.31129
| CCTCCACCGGTTGAACTGCGGGCTGCTGCCCTTCGTGCAGAGATCACAGATGCTGAAGGC c.2820
| P P P V E L R A A A L R A E I T D A E G p.940
. . . . . . g.31189
CTGGGTTTGAAGCTCGAAGATCGAGAGACAGTTATTAAGGAGTTGAAGAAGTCACTCAAG c.2880
L G L K L E D R E T V I K E L K K S L K p.960
| 25 . . . . . . g.31484
ATTAAG | GGAGAGGAGCTAAGTGAGGCCAATGTGCGGCTGAGCCTCCTGGAGAAGAAGTTG c.2940
I K | G E E L S E A N V R L S L L E K K L p.980
. . . . . . g.31544
GACAGTGCTGCCAAGGATGCAGATGAGCGCATCGAGAAAGTCCAGACTCGGCTGGAGGAG c.3000
D S A A K D A D E R I E K V Q T R L E E p.1000
. . | 26 . . . g.31877
ACCCAGGCACTGCTGCGAAAGAAGGAGAA | AGAGTTTGAGGAGACAATGGATGCACTCCAG c.3060
T Q A L L R K K E K | E F E E T M D A L Q p.1020
. . . . . . g.31937
GCTGACATCGACCAGCTGGAGGCAGAGAAGGCAGAACTAAAGCAGCGTCTGAACAGCCAG c.3120
A D I D Q L E A E K A E L K Q R L N S Q p.1040
. . . . . . g.31997
TCCAAACGCACGATTGAGGGACTCCGGGGCCCTCCTCCTTCAGGCATTGCTACTCTGGTC c.3180
S K R T I E G L R G P P P S G I A T L V p.1060
. | 27 . . | 28 . . . g.33689
TCTGGCATTGCTGGTG | AAGAACAGCAGCGAG | GAGCCATCCCTGGGCAGGCTCCAGGGTCT c.3240
S G I A G E | E Q Q R G | A I P G Q A P G S p.1080
. . . . . . g.33749
GTGCCAGGCCCAGGGCTGGTGAAGGACTCACCACTGCTGCTTCAGCAGATCTCTGCCATG c.3300
V P G P G L V K D S P L L L Q Q I S A M p.1100
. . . . | 29 . . g.33925
AGGCTGCACATCTCCCAGCTCCAGCATGAGAACAGCATCCTCAAG | GGAGCCCAGATGAAG c.3360
R L H I S Q L Q H E N S I L K | G A Q M K p.1120
. . . . . . g.33985
GCATCCTTGGCATCCCTGCCCCCTCTGCATGTTGCAAAGCTATCCCATGAGGGCCCTGGC c.3420
A S L A S L P P L H V A K L S H E G P G p.1140
. . . . . . g.34045
AGTGAGTTACCAGCTGGAGCGCTGTATCGTAAGACCAGCCAGCTGCTGGAGACATTGAAT c.3480
S E L P A G A L Y R K T S Q L L E T L N p.1160
. . . . | 30 . g.34369
CAATTGAGCACACACACGCACGTAGTAGACATCACTCGCACCAGCCCTG | CTGCCAAGAGC c.3540
Q L S T H T H V V D I T R T S P A | A K S p.1180
. . . . . . g.34429
CCGTCGGCCCAACTTATGGAGCAAGTGGCTCAGCTTAAGTCCCTGAGTGACACCGTCGAG c.3600
P S A Q L M E Q V A Q L K S L S D T V E p.1200
| 31 . . . . . g.34997
AAGCTCAAG | GATGAGGTCCTCAAGGAGACAGTATCTCAGCGCCCTGGAGCCACAGTACCC c.3660
K L K | D E V L K E T V S Q R P G A T V P p.1220
. . . | 32 . . g.35472
ACTGACTTTGCCACCTTCCCTTCATCAGCCTTCCTCAGG | GCCAAGGAGGAGCAGCAGGAT c.3720
T D F A T F P S S A F L R | A K E E Q Q D p.1240
. . . . . . g.35532
GACACAGTCTACATGGGCAAAGTGACCTTCTCATGTGCGGCTGGTTTTGGACAGCGACAC c.3780
D T V Y M G K V T F S C A A G F G Q R H p.1260
. . . . . g.35589
CGGCTGGTGCTGACCCAGGAGCAGCTGCACCAGCTTCACAGTCGCCTCATCTCCTAA c.3837
R L V L T Q E Q L H Q L H S R L I S X p.1278
. . . . . . g.35649
gcactcctttcccctgctgtccccttcgaccctcagccctctggtgccgctctgcccgat c.*60
. . . . . . g.35709
gcacagccacctcagccagcccccaggtagaaacgtgggttaagctcttcctgccccgtt c.*120
. . . . . . g.35769
cagcttcactcccaccctttcagcgtcctgccccttcaccttgacccgggttcccccact c.*180
. . . . . . g.35829
cccattccctggcctctgccataatttgttgttcaactgctccctccttcctgaggggcc c.*240
. . . . . . g.35889
tcagggcttgtggggggtaggctgagaccccaccaccaaaggttaagtgaggtccccttg c.*300
. . . . g.35934
attgaggacttcaccccttgattaaagcaacttctgcttcagtgc c.*345
(downstream sequence)
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