(used for variant description)
(last modified September 27, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006612.5 in the KIF1C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_034137.1, covering KIF1C transcript NM_006612.5.
(upstream sequence)
. . . . . g.5057
ccagctcgcgctgcccgggcgggcgccggccgctggcgccgctactgctgccgcccc c.-301
. . . . . . g.5117
cggggcgcgagtccgccgcccgccgcccgggcacccggcgaggggcgggggcagctccga c.-241
. . . . . . g.5177
accggccccagatccttcccgcttccgcctcacgcttcccggaaagcttgtccctctccg c.-181
. . . . | 02 . . g.6930
ccgagctgctccgggagccccgccgcgccgag | ggtatctcccagagccccagctggtgtg c.-121
. . . . . . g.6990
gccaggccccaggagtaggatggggctccccctacgagggccggtggcagccagaactga c.-61
. . . . | 03 . . g.7299
tacagcccccctggtctggggccaggacgccag | ctgaggagggcaggagtgtctggagct c.-1
. . . . . . g.7359
ATGGCTGGTGCCTCGGTGAAAGTGGCAGTGAGGGTTCGGCCCTTTAACGCCCGTGAGACC c.60
M A G A S V K V A V R V R P F N A R E T p.20
. . . . | 04 . . g.7838
AGCCAGGATGCCAAGTGTGTGGTCAGCATGCAGGGCAACACCACCT | CCATCATCAATCCT c.120
S Q D A K C V V S M Q G N T T S | I I N P p.40
. . . . . . g.7898
AAACAGAGCAAGGATGCCCCCAAAAGCTTCACCTTTGACTACTCCTACTGGTCACACACT c.180
K Q S K D A P K S F T F D Y S Y W S H T p.60
| 05 . . . . . . g.8331
TCG | ACGGAGGACCCCCAGTTTGCATCTCAGCAGCAAGTGTATCGGGACATTGGAGAAGAG c.240
S | T E D P Q F A S Q Q Q V Y R D I G E E p.80
. . . . . . g.8391
ATGCTGCTCCACGCCTTTGAAGGCTACAACGTGTGCATCTTTGCCTATGGGCAGACCGGG c.300
M L L H A F E G Y N V C I F A Y G Q T G p.100
. . . . . . g.8451
GCTGGGAAATCCTATACCATGATGGGGCGACAGGAGCCAGGGCAGCAGGGCATCGTGCCC c.360
A G K S Y T M M G R Q E P G Q Q G I V P p.120
| 06 . . . . . . g.9168
CAG | CTCTGTGAGGACCTCTTCTCTCGCGTTAGTGAGAACCAGAGTGCTCAGCTATCCTAC c.420
Q | L C E D L F S R V S E N Q S A Q L S Y p.140
| 07 . . . . . g.9567
TCTGTGGAG | GTGAGCTATATGGAGATCTACTGTGAGCGGGTACGAGACCTCTTGAACCCC c.480
S V E | V S Y M E I Y C E R V R D L L N P p.160
. . . . . . g.9627
AAGAGTCGGGGTTCTCTGCGGGTCCGGGAGCACCCCATCCTGGGCCCGTACGTGCAGGAC c.540
K S R G S L R V R E H P I L G P Y V Q D p.180
. . . . . . g.9687
CTGTCCAAATTGGCTGTGACCTCCTACGCAGACATTGCTGACCTCATGGACTGTGGAAAT c.600
L S K L A V T S Y A D I A D L M D C G N p.200
| 08 . . . . . g.9835
AAAGCACG | GACTGTGGCTGCCACCAACATGAATGAGACCAGCAGCCGTTCCCATGCCGTC c.660
K A R | T V A A T N M N E T S S R S H A V p.220
. . . . . . g.9895
TTTACCATCGTCTTCACACAGCGCTGCCATGACCAGCTCACGGGGCTGGACTCGGAGAAG c.720
F T I V F T Q R C H D Q L T G L D S E K p.240
| 09 . . . . . . g.10724
| GTCAGTAAGATCAGTTTGGTGGACCTTGCTGGGAGTGAGCGAGCCGACTCCTCAGGGGCC c.780
| V S K I S L V D L A G S E R A D S S G A p.260
. | 10 . . . . g.10945
CGGGGCATGCGCCTGAAG | GAAGGAGCCAACATCAATAAGTCCCTGACTACACTAGGGAAA c.840
R G M R L K | E G A N I N K S L T T L G K p.280
. . | 11 . . . . g.11086
GTGATCTCGGCCCTTGCAGATATG | CAATCAAAGAAGCGAAAGTCGGATTTTATCCCCTAC c.900
V I S A L A D M | Q S K K R K S D F I P Y p.300
. . . . | 12 . . g.11639
AGGGACTCTGTGCTCACCTGGCTGCTCAAGGAAAATTTGG | GGGGGAACTCACGCACAGCC c.960
R D S V L T W L L K E N L G | G N S R T A p.320
. . . . . | 13 g.11908
ATGATTGCAGCCCTGAGCCCTGCTGACATCAATTACGAGGAGACTCTCAGCACCCTCAG | G c.1020
M I A A L S P A D I N Y E E T L S T L R | p.340
. . . . . . g.11968
TATGCTGACCGCACCAAGCAAATCCGCTGCAATGCCATCATCAACGAGGACCCTAATGCC c.1080
Y A D R T K Q I R C N A I I N E D P N A p.360
. . . . . . g.12028
CGGCTGATTAGAGAGCTGCAGGAGGAAGTAGCCCGGCTGCGGGAACTGCTGATGGCTCAG c.1140
R L I R E L Q E E V A R L R E L L M A Q p.380
. . | 14 . . . . g.14002
GGACTGTCAGCCTCTGCTCTGGAAG | GCCTGAAGACGGAAGAAGGGAGTGTCAGAGGCGCC c.1200
G L S A S A L E G | L K T E E G S V R G A p.400
. . . . . . g.14062
CTGCCAGCTGTGTCATCTCCCCCAGCTCCAGTTTCACCCTCATCACCCACCACACATAAT c.1260
L P A V S S P P A P V S P S S P T T H N p.420
. . . . . . g.14122
GGGGAGCTGGAGCCGTCATTCTCCCCCAACACGGAGTCCCAGATTGGGCCTGAGGAAGCC c.1320
G E L E P S F S P N T E S Q I G P E E A p.440
. | 15 . . . . . g.14360
ATGGAGAGGCTGCAG | GAGACAGAGAAGATTATAGCTGAGCTGAACGAGACATGGGAGGAG c.1380
M E R L Q | E T E K I I A E L N E T W E E p.460
. . . | 16 . . . g.14544
AAGCTACGCAAGACAGAAGCCCTGAGGATGGAGAG | AGAAGCATTGCTGGCTGAGATGGGG c.1440
K L R K T E A L R M E R | E A L L A E M G p.480
. . . . . | 17 . g.20714
GTGGCCGTCCGGGAGGATGGGGGAACTGTGGGCGTCTTCTCTCCAAAGAAG | ACTCCCCAC c.1500
V A V R E D G G T V G V F S P K K | T P H p.500
. . . . . . g.20774
CTGGTGAACCTGAACGAAGACCCTCTGATGTCTGAGTGTCTGCTCTACCACATCAAAGAT c.1560
L V N L N E D P L M S E C L L Y H I K D p.520
. | 18 . . . . . g.21844
GGCGTCACCAG | GGTCGGCCAAGTAGATATGGACATCAAGCTGACCGGACAGTTCATTCGG c.1620
G V T R | V G Q V D M D I K L T G Q F I R p.540
. . . . | 19 . . g.27062
GAGCAACACTGTCTGTTCCGGAGCATCCCCCAGCCAGATGGAGAAG | TGGTGGTCACTCTG c.1680
E Q H C L F R S I P Q P D G E V | V V T L p.560
. . . . . . g.27122
GAGCCTTGTGAAGGAGCTGAGACATATGTGAATGGGAAGCTTGTGACGGAGCCGCTGGTG c.1740
E P C E G A E T Y V N G K L V T E P L V p.580
. | 20 . . . . . g.27594
CTGAAGTCAG | GGAATAGGATTGTGATGGGCAAGAACCACGTTTTCCGCTTCAACCACCCG c.1800
L K S G | N R I V M G K N H V F R F N H P p.600
. . . . . . g.27654
GAGCAGGCAAGGCTGGAACGGGAACGAGGGGTCCCCCCACCCCCAGGACCGCCCTCTGAG c.1860
E Q A R L E R E R G V P P P P G P P S E p.620
. . . . . . g.27714
CCAGTCGACTGGAACTTTGCCCAGAAGGAACTGCTGGAGCAGCAAGGCATCGACATAAAG c.1920
P V D W N F A Q K E L L E Q Q G I D I K p.640
. | 21. . . . . g.27901
CTGGAAATGGAGAAGAG | GCTGCAGGATCTGGAGAATCAGTACCGGAAAGAAAAGGAAGAA c.1980
L E M E K R | L Q D L E N Q Y R K E K E E p.660
. . . | 22 . . . g.29174
GCCGATCTTCTGCTGGAGCAGCAGCGACTG | TATGCAGACTCGGACAGCGGGGATGACTCT c.2040
A D L L L E Q Q R L | Y A D S D S G D D S p.680
. . . . . . g.29234
GACAAGCGCTCTTGTGAAGAGAGCTGGAGGCTCATCTCCTCCTTGCGGGAGCAGCTGCCG c.2100
D K R S C E E S W R L I S S L R E Q L P p.700
. . . . . . g.29294
CCCACCACGGTCCAGACCATTGTCAAACGCTGTGGTCTGCCCAGCAGTGGCAAGCGCAGG c.2160
P T T V Q T I V K R C G L P S S G K R R p.720
. . . . . . g.29354
GCCCCTCGCAGGGTTTATCAGATCCCCCAGCGACGCAGGCTGCAGGGCAAAGACCCCCGC c.2220
A P R R V Y Q I P Q R R R L Q G K D P R p.740
. . . . . . g.29414
TGGGCCACCATGGCTGACCTGAAGATGCAGGCGGTGAAGGAGATCTGCTACGAGGTGGCC c.2280
W A T M A D L K M Q A V K E I C Y E V A p.760
. . . . . . g.29474
CTGGCTGACTTCCGCCACGGGCGGGCTGAGATTGAGGCCCTGGCCGCCCTCAAGATGCGG c.2340
L A D F R H G R A E I E A L A A L K M R p.780
. . . . . . g.29534
GAGCTGTGTCGCACCTATGGCAAGCCAGACGGCCCCGGAGACGCCTGGAGGGCTGTGGCC c.2400
E L C R T Y G K P D G P G D A W R A V A p.800
. . . . . . g.29594
CGGGATGTCTGGGACACTGTAGGCGAGGAGGAAGGAGGTGGAGCTGGCAGTGGTGGTGGC c.2460
R D V W D T V G E E E G G G A G S G G G p.820
. . . . . . g.29654
AGTGAGGAGGGAGCCCGAGGGGCGGAGGTGGAGGACCTCCGGGCCCACATCGACAAGCTG c.2520
S E E G A R G A E V E D L R A H I D K L p.840
. . . . . . g.29714
ACGGGGATTCTGCAGGAGGTGAAGCTGCAGAACAGCAGCAAGGACCGGGAGCTGCAGGCC c.2580
T G I L Q E V K L Q N S S K D R E L Q A p.860
. . . . | 23 . g.30532
CTGCGGGACCGCATGCTCCGCATGGAGAGGGTCATCCCCCTGGCCCAG | GATCATGAGGAT c.2640
L R D R M L R M E R V I P L A Q | D H E D p.880
. . . . . . g.30592
GAGAATGAAGAAGGTGGTGAGGTCCCCTGGGCCCCGCCTGAAGGATCAGAGGCAGCAGAG c.2700
E N E E G G E V P W A P P E G S E A A E p.900
. . . . . . g.30652
GAGGCAGCCCCCAGTGACCGCATGCCGTCAGCCCGGCCCCCCTCGCCACCACTGTCAAGC c.2760
E A A P S D R M P S A R P P S P P L S S p.920
. . . . . . g.30712
TGGGAGCGGGTGTCACGGCTCATGGAGGAGGACCCTGCCTTCCGTCGTGGTCGTCTTCGC c.2820
W E R V S R L M E E D P A F R R G R L R p.940
. . . . . . g.30772
TGGCTCAAGCAGGAGCAGCTACGGCTGCAGGGACTGCAGGGCTCTGGGGGCCGGGGCGGG c.2880
W L K Q E Q L R L Q G L Q G S G G R G G p.960
. . . . . . g.30832
GGGCTGCGCAGGCCCCCAGCCCGCTTTGTGCCCCCTCACGACTGCAAGCTACGCTTCCCC c.2940
G L R R P P A R F V P P H D C K L R F P p.980
. . . . . . g.30892
TTCAAGAGCAACCCCCAGCACCGGGAGTCTTGGCCAGGGATGGGGAGCGGGGAGGCTCCA c.3000
F K S N P Q H R E S W P G M G S G E A P p.1000
. . . . . . g.30952
ACTCCGCTCCAACCCCCTGAGGAGGTCACTCCCCATCCAGCCACCCCTGCCCGCCGGCCT c.3060
T P L Q P P E E V T P H P A T P A R R P p.1020
. . . . . . g.31012
CCGAGTCCCCGAAGGTCCCACCATCCCCGCAGGAACTCCCTGGATGGAGGGGGCCGATCC c.3120
P S P R R S H H P R R N S L D G G G R S p.1040
. . . . . . g.31072
CGGGGAGCGGGTTCTGCACAGCCTGAACCCCAGCACTTCCAGCCCAAAAAGCACAACTCT c.3180
R G A G S A Q P E P Q H F Q P K K H N S p.1060
. . . . . . g.31132
TATCCCCAGCCACCCCAACCCTACCCAGCCCAGCGGCCCCCAGGGCCCCGCTACCCCCCA c.3240
Y P Q P P Q P Y P A Q R P P G P R Y P P p.1080
. . . . . . g.31192
TACACTACTCCCCCACGAATGAGACGGCAGCGTTCTGCCCCTGACCTCAAGGAGAGTGGG c.3300
Y T T P P R M R R Q R S A P D L K E S G p.1100
. g.31204
GCAGCTGTGTGA c.3312
A A V X p.1103
. . . . . . g.31264
gtcccacatcctgggcagagggcctggtggggccccttgctaggagaagggaagacgccc c.*60
. . . . . . g.31324
gagacgctgcttccccagaagtgctggggcagggaggcccaggagatgagagagaaggtc c.*120
. . . . . . g.31384
cgagtaggtgatagaagacaagggggagaccgagccggaggctgaggaaaggaagagggc c.*180
. . . . . . g.31444
acggagttgccaggagcaaaccaaagtgaagagagagataggaagctgcctcggggccac c.*240
. . . . . . g.31504
cccttgcaaagggggtgtgtcccacaaacgctgctatgggtggggtggggggctggggtg c.*300
. . . . . . g.31564
ctgcgtagccagtgtttgactttcttttcaagtgggggaaagtgggagaggactgagagt c.*360
. . . . . . g.31624
gaggcaagttctccccagcccctgtccgtctgtctgtctgtctgtggtggtttctgtttc c.*420
. . . . . . g.31684
ttgggaggcatggtaggatcataagtcattcccctccccttccaggcctcctgctatatt c.*480
. . . . . . g.31744
tgggggacctgactggtttggctggagtcccatgaggatgtgggccctttaataaaggat c.*540
. . . . . . g.31804
agcaaacagggagcttgtggcctgtttgttttgggttttcatggaggtgtaggttatata c.*600
. . . . . . g.31864
aggcaatggcacaggtcttaagcatacttatcagtgaagtattgtatgtgtgctctgtgc c.*660
. . . . . . g.31924
aggcaccacccagatctggatataagaatgtttccatcttgtcttcctgaacttcaccct c.*720
. . . . . . g.31984
cctgtctcttccttcagggtgcgcagcccgatcttttccccgctttttttttttgggaga c.*780
. . . . . . g.32044
cagggtcttgctttgttgcccaggctggaggtacagtcttggctcactgcagcctccgcc c.*840
. . . . . . g.32104
tcctgagtagctgggattacaggcatgtgccaccacgcccggctcattactgtttttttt c.*900
. . . . . . g.32164
gtagtgacgaggtttcaccatattggccaggctggtctcgaactcctgatgacctcaagt c.*960
. . . . . . g.32224
gatccgcccaccttggcctcccaaagtggtgggattacaggtgtgagccaccgcgcccgg c.*1020
. . . . . . g.32284
cctcccctgctttcatgtttgcttacccagtgtctcagtctgtgccagcagcaccactgt c.*1080
. . . . . . g.32344
ctgttatggacaaagcacagaagcggggatgcgaggggaggtagagggaccgccagcctg c.*1140
. . . . . . g.32404
tcaatgcttaactggctgttgctgacagatacagaaggatttgtggggtacagaggagtt c.*1200
. . . . . . g.32464
ctgctttaagtcacctaacttacttgaaaggtctcccaagcagccagtttctcttgatag c.*1260
. . . . . . g.32524
tgaatgggttgggcaagcatactgcgcttacctgattgttttcatcctggttgtgttacc c.*1320
. . . . . . g.32584
tgccttctggcaggctacatcattgttcccagtcgttattttatttgtgttaagactgtt c.*1380
. . . . . . g.32644
tgttggccaggcgcagtggttcacgcctgtaatgccagcactgggaggccgaggcaggtg c.*1440
. . . . . . g.32704
gatcacgaggtcaggagatcgagaccatcctggctatcatggtgaaaccccatctctact c.*1500
. . . . . . g.32764
aaaaataaaaataaaaaaattagccgggcatggtggcgggggcctgtagtcccagctact c.*1560
. . . . . . g.32824
caggaggctgaggcaggagaatggcatgaacctgggaggcggagcttgcagtgagctgag c.*1620
. . . . . . g.32884
attgcgccactgcactccagcctgggcgacagagcgagactccatttcaagaaaaattaa c.*1680
. . . . . . g.32944
aaaactgtttgttgcctgcttgttttaatgttctggcttgaggcagcgagcccttgacta c.*1740
. . . . . . g.33004
tgccacattgccaggattttgcaggttagattgtactacagcactgcctttggcttgcca c.*1800
. . . . . . g.33064
gactctggagtccccacattttcatcctgttctcaggaaaacactttgacccacttgaag c.*1860
. . . . . . g.33124
ctctgagctactgcttcacagcttcctggggtcagtctccagccaaaaccatagatatcc c.*1920
. . . . . . g.33184
caactgcagccaaaccacggctctgggcgaaggaacgattaggtttactctaggtttcca c.*1980
. . . . . . g.33244
caccctgatgctcctgcctttactttgacacctctgactgccaggttttcacagacctgt c.*2040
. . . . . . g.33304
tgacagtgactcaagatctggaatgtaatggatggtttggcaacagtgtttgcttgagca c.*2100
. . . . . . g.33364
gtttaaaatctggccagggagactcaatgtgagcaagaaaatgatagaataccaagtttt c.*2160
. . . . . . g.33424
ctggaggtcagagggagctgagttgagtgttaccgagaatgctgtggggtttgagatgag c.*2220
. . . . . . g.33484
aaaaatagcttgctaatttaaaagacggattatttttccctaaagaccttgacttatgta c.*2280
. . . . . . g.33544
aatgtatattatccataattttaaaaatccacttatggctgggcacagaagctcacacct c.*2340
. . . . . . g.33604
gtaatcccagcactttgggaggctgaggcaggaggatcagttgagtccaggagttcgaga c.*2400
. . . . . . g.33664
ccagcctgggcaacatagtgaaaccctgtatctacaaaacatagaaaaactagttgggtg c.*2460
. . . . . . g.33724
tggtggtgtgtacctgtagttccagctactagggaggtaggaagatcacctgagcccatg c.*2520
. . . . . . g.33784
gagattgaggctgtggtgagctgtgaaggcaccacagcactctggcctgggcaagagtgg c.*2580
. . . . . . g.33844
gactctctcaaaaaaaaaaaaaaaaaaaaatccacatatccagccttccaagtcagtctt c.*2640
. . . . . . g.33904
taataatgtgcacgggccaggcacagtggctcacacccgtaatcccaacactttggaata c.*2700
. . . . . . g.33964
ttagggtgggagcatcacttgaggccaggaatttgagaccagcctgggcaacatagtgag c.*2760
. . . . . . g.34024
actgccccccccatctctacaaaaaataaaaatcaaaaataatactgtgggcaaacttta c.*2820
. . . . . . g.34084
cttagattttattcagagtagtgcctgtttatttttcatctgtgctacctgtgccggcat c.*2880
. . . . . . g.34144
tccatatgcatttgatttagtctttaaagtaccccggtaaaataggtcttttgtctgcat c.*2940
. . . . . . g.34204
ttttcagatgggaagactgaggttttgtttatttatttttatttatttattttttgagac c.*3000
. . . . . . g.34264
ggagtctcgctctgttgcctaggctggagtgcgatggcacaatcttggctcactacaacc c.*3060
. . . . . . g.34324
tccgcttcctgggttcaagcgattctcctgcctcagcctcctgagtagctaggattacag c.*3120
. . . . . . g.34384
gcgcccacaaccgcacccggctaattttttgtatctttagtagagacagggtttcactat c.*3180
. . . . . . g.34444
gttgtccaagctggtttcgaattcctgacctcaggtgatccacccgcctctgcctcccaa c.*3240
. . . . . . g.34504
aatgttgggattacaggcgtgagccaccacgcccagcctatttatttatttttttagaat c.*3300
. . . . . . g.34564
caagatcttgctatgttgcccaggctgaactcgaactcctgggctcaagcaatcctgcct c.*3360
. . . . . . g.34624
cccaagccaagcagctggtactgcaagcatgtgccaccgtgcctggctcctgaagactga c.*3420
. . . . . . g.34684
ggttggtttagattaatgagttgcccaaattcagacagttcttaagtggcaaagttagga c.*3480
. . . . . . g.34744
ttccaacccaggtcaacataactaaagcccaaaccccatctcacccctctaggccatcaa c.*3540
. . . . . . g.34804
gtattggctgggtgcggtggtttatgtctgtaatcccagcactttgggaggcggaggcgg c.*3600
. . . . . . g.34864
gaggactgtttgagctcaggagtttgagaccagcctgggcaacataacaagaccctgtct c.*3660
. . . . . . g.34924
ctacaaaaatatataaattagccgggtgtactggctcacacctgtagctacttgggaggc c.*3720
. . . . . . g.34984
tgaggtgggaggatcgcttgagcctgggaggtcaaggctgcggtgacctgtgattgcacc c.*3780
. . . . . . g.35044
accaggagaccctgtcttaaaaatgtatatataaaaataaaaagaacatcagacatcacc c.*3840
. . . . . . g.35104
atcacctcgcttagaatccatggggccttctcctcaaattcaatcttcccaggcatttca c.*3900
. . . . . . g.35164
tgaacttgcgtctagtttctgttccctctcaaattgcccaggctgtcctgtgagtgacag c.*3960
. . . . . . g.35224
cagctatttcgtgggcctcctctggaatcatgagaagtcacccaaacaatctcagttttc c.*4020
. . . . . . g.35284
tagctcactccgtcttgacatttctacactgtcatccttggttttcttggaaattaattt c.*4080
. . . . . . g.35344
gcttttcttcattgtctttctttggagctgctttccttttgttggttactattttatttt c.*4140
. . . . . . g.35404
tagcttctcacaccataccgacatatgttggttattcttttagacatgttttttgttgtt c.*4200
. . . . g.35452
gttgtcacctggaacttttgtatcttgaataaatttggggatcaaata c.*4248
(downstream sequence)
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