(used for variant description)
(last modified June 15, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_004984.2 in the KIF5A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008155.1, covering KIF5A transcript NM_004984.2.
(upstream sequence)
. . g.5028
acgcccaggtcgcccgcatcccgctgcc c.-181
. . . . . . g.5088
gcaggagagagacagcgcgccccggccctgctccccaggcttcgcccgggcgccctcaac c.-121
. . . . . . g.5148
tctgtccccagagactgagcacctgtcctccgcctcggcctctgctgagagccctctcct c.-61
. . . . . . g.5208
ctggagcacacaccacccctgcagcccaagaagagtcccagccccacgccggctaccacc c.-1
. . . . . . g.5268
ATGGCGGAGACCAACAACGAATGTAGCATCAAGGTGCTCTGCCGATTCCGGCCCCTGAAC c.60
M A E T N N E C S I K V L C R F R P L N p.20
. . . . . . g.5328
CAGGCTGAGATTCTGCGGGGAGACAAGTTCATCCCCATTTTCCAAGGGGACGACAGCGTC c.120
Q A E I L R G D K F I P I F Q G D D S V p.40
| 02 . . . . . g.18426
GTTATTGGG | GGGAAGCCATATGTTTTTGACCGTGTATTCCCCCCAAACACGACTCAAGAG c.180
V I G | G K P Y V F D R V F P P N T T Q E p.60
. . . | 03. . . g.18579
CAAGTTTATCATGCATGTGCCATGCAGATTGTCAAAG | ATGTCCTTGCTGGCTACAATGGC c.240
Q V Y H A C A M Q I V K D | V L A G Y N G p.80
. . . . . | 04 . g.19053
ACCATTTTTGCTTATGGACAGACATCCTCAGGGAAAACACATACCATGGAG | GGAAAGCTG c.300
T I F A Y G Q T S S G K T H T M E | G K L p.100
. . . . . . g.19113
CACGACCCTCAGCTGATGGGAATCATTCCTCGAATTGCCCGAGACATCTTCAACCACATC c.360
H D P Q L M G I I P R I A R D I F N H I p.120
. . . | 05 . . . g.19420
TACTCCATGGATGAGAACCTTGAGTTCCACATCAAG | GTTTCTTACTTTGAAATTTACCTG c.420
Y S M D E N L E F H I K | V S Y F E I Y L p.140
. . | 06 . . . . g.19889
GACAAAATTCGTGACCTTCTGGATG | TGACCAAGACAAATCTGTCCGTGCACGAGGACAAG c.480
D K I R D L L D V | T K T N L S V H E D K p.160
. . | 07 . . . . g.22101
AACCGGGTGCCATTTGTCAAG | GGTTGTACTGAACGCTTTGTGTCCAGCCCGGAGGAGATT c.540
N R V P F V K | G C T E R F V S S P E E I p.180
. . . . | 08 . g.22441
CTGGATGTGATTGATGAAGGGAAATCAAATCGTCATGTGGCTGTCACCA | ACATGAATGAA c.600
L D V I D E G K S N R H V A V T N | M N E p.200
. . . . . . g.22501
CACAGCTCTCGGAGCCACAGCATCTTCCTCATCAACATCAAGCAGGAGAACATGGAAACG c.660
H S S R S H S I F L I N I K Q E N M E T p.220
. . . . . | 09 . g.23905
GAGCAGAAGCTCAGTGGGAAGCTGTATCTGGTGGACCTGGCAGGGAGTGAGAAG | GTCAGC c.720
E Q K L S G K L Y L V D L A G S E K | V S p.240
. . . . . . g.23965
AAGACTGGAGCAGAGGGAGCCGTGCTGGACGAGGCAAAGAATATCAACAAGTCACTGTCA c.780
K T G A E G A V L D E A K N I N K S L S p.260
. . . | 10 . . g.24213
GCTCTGGGCAATGTGATCTCCGCACTGGCTGAGGGCACT | AAAAGCTATGTTCCATATCGT c.840
A L G N V I S A L A E G T | K S Y V P Y R p.280
. . . . . . g.24273
GACAGCAAAATGACAAGGATTCTCCAGGACTCTCTCGGGGGAAACTGCCGGACGACTATG c.900
D S K M T R I L Q D S L G G N C R T T M p.300
. . . . . . g.24333
TTCATCTGTTGCTCACCATCCAGTTATAATGATGCAGAGACCAAGTCCACCCTGATGTTT c.960
F I C C S P S S Y N D A E T K S T L M F p.320
| 11 . . . . . g.24523
GGGCAGCG | GGCAAAGACCATTAAGAACACTGCCTCAGTAAATTTGGAGTTGACTGCTGAG c.1020
G Q R | A K T I K N T A S V N L E L T A E p.340
. . . . . . g.24583
CAGTGGAAGAAGAAATATGAGAAGGAGAAGGAGAAGACAAAGGCCCAGAAGGAGACGATT c.1080
Q W K K K Y E K E K E K T K A Q K E T I p.360
. . . | 12. . . g.24946
GCGAAGCTGGAGGCTGAGCTGAGCCGGTGGCGCAATG | GAGAGAATGTGCCTGAGACAGAG c.1140
A K L E A E L S R W R N G | E N V P E T E p.380
. . . . . . g.25006
CGCCTGGCTGGGGAGGAGGCAGCCCTGGGAGCCGAGCTCTGTGAGGAGACCCCTGTGAAT c.1200
R L A G E E A A L G A E L C E E T P V N p.400
. . . . . . g.25066
GACAACTCATCCATCGTGGTGCGCATCGCGCCCGAGGAGCGGCAGAAATACGAGGAGGAG c.1260
D N S S I V V R I A P E E R Q K Y E E E p.420
. . . | 13 . . . g.26284
ATCCGCCGTCTCTATAAGCAGCTTGACGACAAG | GATGATGAAATCAACCAACAAAGCCAA c.1320
I R R L Y K Q L D D K | D D E I N Q Q S Q p.440
. . . . | 14 . . g.27015
CTCATAGAGAAGCTCAAGCAGCAAATGCTGGACCAGGAAGAG | CTGCTGGTGTCCACCCGA c.1380
L I E K L K Q Q M L D Q E E | L L V S T R p.460
. . . . . . g.27075
GGAGACAACGAGAAGGTCCAGCGGGAGCTGAGCCACCTGCAATCAGAGAACGATGCCGCT c.1440
G D N E K V Q R E L S H L Q S E N D A A p.480
. . . . . . g.27135
AAGGATGAGGTGAAGGAAGTGCTGCAGGCCCTGGAGGAGCTGGCTGTGAACTATGACCAG c.1500
K D E V K E V L Q A L E E L A V N Y D Q p.500
. . . . . . g.27195
AAGTCCCAGGAGGTGGAGGAGAAGAGCCAGCAGAACCAGCTTCTGGTGGATGAGCTGTCT c.1560
K S Q E V E E K S Q Q N Q L L V D E L S p.520
| 15 . . . . . g.27567
CAGAAGGTG | GCCACCATGCTGTCCCTGGAGTCTGAGTTGCAGCGGCTACAGGAGGTCAGT c.1620
Q K V | A T M L S L E S E L Q R L Q E V S p.540
. . . . . . g.27627
GGACACCAGCGAAAACGAATTGCTGAGGTGCTGAACGGGCTGATGAAGGATCTGAGCGAG c.1680
G H Q R K R I A E V L N G L M K D L S E p.560
. . . | 16 . . . g.30044
TTCAGTGTCATTGTGGGCAACGGGGAGATTAAGCTG | CCAGTGGAGATCAGTGGGGCCATC c.1740
F S V I V G N G E I K L | P V E I S G A I p.580
. . . . . . g.30104
GAGGAGGAGTTCACTGTGGCCCGACTCTACATCAGCAAAATCAAATCAGAAGTCAAGTCT c.1800
E E E F T V A R L Y I S K I K S E V K S p.600
. . . . . . g.30164
GTGGTCAAGCGGTGCCGGCAGCTGGAGAACCTCCAGGTGGAGTGTCACCGCAAGATGGAA c.1860
V V K R C R Q L E N L Q V E C H R K M E p.620
. . . . | 17 . . g.30591
GTGACCGGGCGGGAGCTCTCATCCTGCCAGCTCCTCATCTCTCAG | CATGAGGCCAAGATC c.1920
V T G R E L S S C Q L L I S Q | H E A K I p.640
. . . . . . g.30651
CGCTCGCTTACGGAATACATGCAGAGCGTGGAGCTAAAGAAGCGGCACCTGGAAGAGTCC c.1980
R S L T E Y M Q S V E L K K R H L E E S p.660
. . . . | 18 . . g.31040
TATGACTCCTTGAGCGATGAGCTGGCCAAGCTCCAGGCCCAGG | AAACTGTGCATGAAGTG c.2040
Y D S L S D E L A K L Q A Q E | T V H E V p.680
. . . . | 19 . g.31217
GCCCTGAAGGACAAGGAGCCTGACACTCAGGATGCAGATGAAGTGAAG | AAGGCTCTGGAG c.2100
A L K D K E P D T Q D A D E V K | K A L E p.700
. . . . . . g.31277
CTGCAGATGGAGAGTCACCGGGAGGCCCATCACCGGCAGCTGGCCCGGCTCCGGGACGAG c.2160
L Q M E S H R E A H H R Q L A R L R D E p.720
. . . | 20 . . g.31719
ATCAACGAGAAGCAGAAGACCATTGATGAGCTCAAAGA | CCTAAATCAGAAGCTCCAGTTA c.2220
I N E K Q K T I D E L K D | L N Q K L Q L p.740
. . . . . . g.31779
GAGCTAGAGAAGCTTCAGGCTGACTACGAGAAGCTGAAGAGCGAAGAACACGAGAAGAGC c.2280
E L E K L Q A D Y E K L K S E E H E K S p.760
. . | 21 . . . . g.32689
ACCAAGCTGCAGGAGCTGAC | ATTTCTGTACGAGCGACATGAGCAGTCCAAGCAGGACCTC c.2340
T K L Q E L T | F L Y E R H E Q S K Q D L p.780
. . | 22 . . . . g.32984
AAGGGTCTGGAGGAGACAGTT | GCCCGGGAACTCCAGACCCTCCACAACCTTCGCAAGCTG c.2400
K G L E E T V | A R E L Q T L H N L R K L p.800
. . . | 23 . . . g.33201
TTCGTTCAAGACGTCACGACTCGAGTCAAGAAA | AGTGCAGAAATGGAGCCCGAAGACAGT c.2460
F V Q D V T T R V K K | S A E M E P E D S p.820
. . . . . . g.33261
GGGGGGATTCACTCCCAAAAGCAGAAGATTTCCTTTCTTGAGAACAACCTGGAACAGCTT c.2520
G G I H S Q K Q K I S F L E N N L E Q L p.840
. | 24 . . . . g.35934
ACAAAGGTTCACAAACAG | CTGGTACGTGACAATGCAGATCTGCGTTGTGAGCTTCCTAAA c.2580
T K V H K Q | L V R D N A D L R C E L P K p.860
. . . . . . g.35994
TTGGAAAAACGACTTAGGGCTACGGCTGAGAGAGTTAAGGCCCTGGAGGGTGCACTGAAG c.2640
L E K R L R A T A E R V K A L E G A L K p.880
. . . . . . g.36054
GAGGCCAAGGAGGGCGCCATGAAGGACAAGCGCCGGTACCAGCAGGAGGTGGACCGCATC c.2700
E A K E G A M K D K R R Y Q Q E V D R I p.900
. . . . . | 25 . g.36356
AAGGAGGCCGTTCGCTACAAGAGCTCGGGCAAACGGGGCCATTCTGCCCAGATTG | CCAAA c.2760
K E A V R Y K S S G K R G H S A Q I A | K p.920
. . . . . . g.36416
CCCGTCCGGCCTGGCCACTACCCAGCATCCTCACCCACCAACCCCTATGGCACCCGGAGC c.2820
P V R P G H Y P A S S P T N P Y G T R S p.940
. . . . . . g.36476
CCTGAGTGCATCAGTTACACCAACAGCCTCTTCCAGAACTACCAGAATCTCTACCTGCAG c.2880
P E C I S Y T N S L F Q N Y Q N L Y L Q p.960
. . | 26 . . . g.36837
GCCACACCCAGCTCCACCTCAGATATGTA | CTTTGCAAACTCCTGTACCAGCAGTGGAGCC c.2940
A T P S S T S D M Y | F A N S C T S S G A p.980
. . . . . | 27 . g.37546
ACATCTTCTGGCGGCCCCTTGGCTTCCTACCAGAAGGCCAACATGGACAATG | GAAATGCC c.3000
T S S G G P L A S Y Q K A N M D N G | N A p.1000
. . | 28 . . . . g.38077
ACAGATATCAATGACAATAG | GAGTGACCTGCCGTGTGGCTATGAGGCTGAGGACCAGGCC c.3060
T D I N D N R | S D L P C G Y E A E D Q A p.1020
. . . g.38116
AAGCTTTTCCCTCTCCACCAAGAGACAGCAGCCAGCTAA c.3099
K L F P L H Q E T A A S X p.1032
. . . | 29 . . . g.39178
tctcccacacccacggctgcatacctgcactttcag | tttctaagagggactgaggcctct c.*60
. . . . . . g.39238
tctcagcatgctgcaaacctgtggtctctgatactaactccctccccaacccctgttgtt c.*120
. . . . . . g.39298
ggactgtactatgtttgatgtcttctcttacttactctgtatctctttgtactctgtatc c.*180
. . . . . . g.39358
tatatatcaaaagctgctgctatgtctctcttctgtcttattctcaagtatctactgatg c.*240
. . . . . . g.39418
tatttagcaatttcaaagcatagtctaccttccttatttggggcaatagggaggagggtg c.*300
. . . . . . g.39478
aatgtttcttctttctcatctactcgtctcacactgagtggtgttagtcactgagtagag c.*360
. . . . . . g.39538
gtcacagagatgacaaaaggaaaaatgggagctagagggttgtgacccttcatacacaca c.*420
. . . . . . g.39598
cgcacgcacgcacacaaacatgcacacacgcatgcacacacacaaagccttaagcagaag c.*480
. . . . . . g.39658
aatgtcttagcatcatgagacagagaaatagactcttcctccctcctctttcacatatag c.*540
. . . . . g.39708
cacaggggaaggtaaaatggaagggctgctaattgagacatataattttc c.*590
(downstream sequence)
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