(used for variant description)
(last modified January 26, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_020461.3 in the TUBGCP6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032160.1, covering TUBGCP6 transcript NM_020461.3.
(upstream sequence)
. . . g.5032
actttccacgggtgaggcctggagaacgggtg c.-481
. . . . . . g.5092
gacgtgcaggccagaacccgggacccacccggctgagcccccagactctccgctgcccac c.-421
. . . . . . g.5152
gaccctcggagtggcaccctctcctggccgtctcctctcgtgggtcccgaagaacgggtg c.-361
. . . . . . g.5212
caaagccgagttcgtccgctgtactgcgcgggcgcgcgtttcgttcttcggttttgccac c.-301
. . . . . . g.5272
ggttctgtgactccctaaaggttgagggctactgaattagaagaaacgccgagctggctt c.-241
. . . . . . g.5332
ctggtgggctgccgggcgccgggcagcgtgcttggactggggagggcagggcgtgtttac c.-181
. . . . . . g.5392
tctgagtagagcaaccgcaagacctcctttaaaaaataccagttctgagcttcggcattg c.-121
. . . . . . g.5452
gagaggccgcctgtcattcagcctcttcggaccctctctcactccctgtcttccggagcg c.-61
. . . . . . g.5512
tgagtgaagcccgggtgaggtgttttcccacacgccgggggcccggagctgagaaggggc c.-1
. . . . . . g.5572
ATGGCCAGCATCACGCAGCTGTTCGACGACCTGTGTGAGGCCCTCCTGCCGGCTGCCAAG c.60
M A S I T Q L F D D L C E A L L P A A K p.20
. . . . . . g.5632
ACTCACCTGGGCCAGCGCAGTGTGAACCGGAAGAGGGCAAAGCGGAGCCTCAAGAAGGTG c.120
T H L G Q R S V N R K R A K R S L K K V p.40
. . . . . . g.5692
GCCTACAATGCTCTTTTCACAAATCTTTTTCAAGATGAGACTCAACAGCTGCAGCCTGAC c.180
A Y N A L F T N L F Q D E T Q Q L Q P D p.60
. . . . . . g.5752
ATGTCAAAACTACCAGCGAGAAACAAGATCCTCATGTTGTCCTTTGACTTGAGAGTGGGT c.240
M S K L P A R N K I L M L S F D L R V G p.80
. . . . . . g.5812
GGCCTGGGCCCCAAGGCCGACCGTTTGGAGGAGCTTGTGGAGGAGCTGGAAGCAGCCCCT c.300
G L G P K A D R L E E L V E E L E A A P p.100
. . . . . . g.5872
TGCTGTCCGCTTTTGGAGGTGGGGTCTGTTTTGGACCTCCTGGTTCAGCTGGCAGGGAGT c.360
C C P L L E V G S V L D L L V Q L A G S p.120
. . . . . . g.5932
GGTCCCCCTCAAGTTCTGCCGAGAAAACGAGACTACTTCCTTAACAACAAGCATGTGGGG c.420
G P P Q V L P R K R D Y F L N N K H V G p.140
. . . . . . g.5992
AGAAACGTTCCGTACAGCGGCTATGATTGCGACGACCTGAGTGTGTTTGAGATGGACGTT c.480
R N V P Y S G Y D C D D L S V F E M D V p.160
. . . . . . g.6052
CAGTCTCTGATCTCCAGAGAAGAGTGTTTGTGTCACAGCATGATCCAGGAAACACTTCAG c.540
Q S L I S R E E C L C H S M I Q E T L Q p.180
. . . . . . g.6112
GTTATGGAGGCTGCTCCAGGCACTGGCCTGCCCACCGTCGGGCTCTTCTCATTTGGTGAC c.600
V M E A A P G T G L P T V G L F S F G D p.200
. . . . . . g.6172
CCTTGTGGTGACAGGTTCGAGAGAGACACCCGGGTCTCGCTCTTCGGGGCCCTTGTGCAC c.660
P C G D R F E R D T R V S L F G A L V H p.220
. . . . . . g.6232
AGCCGCACTTATGACATGGACGTCCGACTGGGCCTGCCCCCCGTGCCAGACAATGCGGAC c.720
S R T Y D M D V R L G L P P V P D N A D p.240
. . | 02 . . . . g.9643
CTCTCTGGGCTGGCTATTAAG | GTCCCACCGAGTGTGGATCAGTGGGAAGACGAAGGATTC c.780
L S G L A I K | V P P S V D Q W E D E G F p.260
. . . . . . g.9703
CAGTCAGCGTCCAACTTGACTCCTGATTCCCAGTCTGAGCCCAGCGTGACCCCAGACGTG c.840
Q S A S N L T P D S Q S E P S V T P D V p.280
. . . . . . g.9763
GACCTGTGGGAAGCCGCACTTACCTATGAGGCCAGCAAGCGGAGGTGCTGGGAGCGAGTT c.900
D L W E A A L T Y E A S K R R C W E R V p.300
| 03 . . . . . . g.16500
GGCTG | CCCCCCTGGCCACAGAGAGGAGCCTTACCTGACGGAGGCGGGAAGGGACGCTTTC c.960
G C | P P G H R E E P Y L T E A G R D A F p.320
. . . . . . g.16560
GACAAGTTCTGCAGGCTCCACCAAGGGGAGCTCCAGCTGCTTGCTGGGGGCGTCCTACAG c.1020
D K F C R L H Q G E L Q L L A G G V L Q p.340
. . . . . . g.16620
GCCCCGCAGCCCGTGCTGGTGAAGGAGTGCGAGCTGGTGAAAGACGTGCTGAACGTCTTG c.1080
A P Q P V L V K E C E L V K D V L N V L p.360
. . . | 04 . . . g.20418
ATTGGGGTCGTGTCTGCCACGTTTTCGCTCTGCCAG | CCGGCCCAGGCCTTTGTGGTGAAG c.1140
I G V V S A T F S L C Q | P A Q A F V V K p.380
. . . . . . g.20478
CGGGGCGTCCACGTGTCAGGAGCGTCTCCCGAGAGCATCAGCAGCCTGCTCTCGGAAGTG c.1200
R G V H V S G A S P E S I S S L L S E V p.400
. . . . . . g.20538
GCCGAGTATGGGACCTGCTACACGCGCCTGAGTCATTTCTCTCTGCAGCCCGTCCTGGAC c.1260
A E Y G T C Y T R L S H F S L Q P V L D p.420
. . . | 05 . . . g.21973
TCTTTGTACAGCAAGGGCCTCGTGTTCCAG | GCCTTCACCAGTGGCCTGAGGAGGTACCTG c.1320
S L Y S K G L V F Q | A F T S G L R R Y L p.440
. . . . . . g.22033
CAGTATTACCGGGCCTGCGTCCTTTCCACTCCGCCCACCCTGAGCCTCCTCACCATTGGT c.1380
Q Y Y R A C V L S T P P T L S L L T I G p.460
. . . | 06 . . . g.22922
TTTCTCTTCAAGAAACTTGGCCGGCAGCTCAG | GTACCTGGCCGAGCTCTGTGGCGTTGGC c.1440
F L F K K L G R Q L R | Y L A E L C G V G p.480
. . . . . | 07 . g.23138
GCTGTGCTCCCGGGCACCTGTGGAGGAGGCCCCAGGGCCGCGTTTCCCACC | GGCGTGAAG c.1500
A V L P G T C G G G P R A A F P T | G V K p.500
. . . . . . g.23198
CTGCTGTCCTACCTCTACCAGGAGGCTCTGCACAACTGCAGCAACGAGCACTACCCTGTA c.1560
L L S Y L Y Q E A L H N C S N E H Y P V p.520
. . . . | 08 . . g.23612
CTGCTGTCCCTGCTGAAGACCAGCTGCGAGCCCTACACCCG | GTTCATCCACGACTGGGTG c.1620
L L S L L K T S C E P Y T R | F I H D W V p.540
. . . . . . g.23672
TACAGCGGGGTGTTCAGAGACGCTTATGGCGAGTTCATGATTCAGGTGAACCACGAGTAC c.1680
Y S G V F R D A Y G E F M I Q V N H E Y p.560
. | 09 . . . . . g.23829
CTCAGCTTCCGAG | ATAAGTTGTACTGGACACATGGCTACGTGCTCATCTCCAAAGAGGTG c.1740
L S F R D | K L Y W T H G Y V L I S K E V p.580
. . . . . . g.23889
GAGGACTGTGTTCCCGTGTTTCTGAAGCACATTGCCCACGACATATACGTCTGCGGAAAG c.1800
E D C V P V F L K H I A H D I Y V C G K p.600
. . . | 10 . . . g.24055
ACCATTAACCTGCTGAAGCTCTGCTGCCCCCGG | CATTACCTCTGTTGGTCCGACGTCCCT c.1860
T I N L L K L C C P R | H Y L C W S D V P p.620
. . . . . . g.24115
GTCCCCCGGATCTCGGTGATTTTCTCCCTTGAGGAGTTGAAGGAGATTGAGAAGGACTGT c.1920
V P R I S V I F S L E E L K E I E K D C p.640
. . . . . . g.24175
GCCGTCTACGTTGGGCGCATGGAGAGGGTGGCCCGCCACAGCTCTGTCAGCAAGGAGGAG c.1980
A V Y V G R M E R V A R H S S V S K E E p.660
| 11 . . . . . . g.25436
AAG | GAATTACGTATGGAAATTGCAAAACAAGAATTAATCGCTCATGCCCGGGAAGCAGCA c.2040
K | E L R M E I A K Q E L I A H A R E A A p.680
. . | 12 . . . . g.25586
TCCAGGGTCCTGAGTGCACTGAGTG | ACCGGCAGATGTCAGAACGGATGGCCTTGGATGCC c.2100
S R V L S A L S D | R Q M S E R M A L D A p.700
. . . . . | 13 . g.25721
CGGAAGCGTGAGCAGTTTCAGAGGCTGAAAGAACAATTTGTGAAGGACCAGGAG | CGACGC c.2160
R K R E Q F Q R L K E Q F V K D Q E | R R p.720
. . . . . . g.25781
CAGGCGGCCAGGCAGGAGGAGCTGGATGATGACTTCAGCTACGCCCGTGAACTCCGAGAC c.2220
Q A A R Q E E L D D D F S Y A R E L R D p.740
. . . . . | 14 . g.27389
AGGGAGAGAAGGCTGAAGTCCCTGGAGGAGGAGCTGGAGAGGAAGGCGAG | GCAGGCACTG c.2280
R E R R L K S L E E E L E R K A R | Q A L p.760
. . . . . . g.27449
GTCGACCACTACAGCAAGCTCTCTGCAGAGGCAGCTCGTCGGGAGCAGAAGGCACTGTGG c.2340
V D H Y S K L S A E A A R R E Q K A L W p.780
. . . . . . g.27509
AGAATCCAGAGGCACCGACTGGAGAGTGCACGGCTTCGTTTTCTCTTAGAAGATGAGAAA c.2400
R I Q R H R L E S A R L R F L L E D E K p.800
| 15 . . . . . g.27920
CACATTCAG | GAGATGCTGAAAGCAGTGTCTGAGGCTCACCAGCCCCAGGAGCCGCCAGAC c.2460
H I Q | E M L K A V S E A H Q P Q E P P D p.820
. . | 16 . . . . g.28133
GTCCTCTTGAGCGTGCACCCCCAG | GTCACGTCTCCGGGCCCTGAGCACCCAGAGGGAGGC c.2520
V L L S V H P Q | V T S P G P E H P E G G p.840
. . . . . . g.28193
CAAGGCTGTGATTCTGGGTCTGCAGAGCAACACTCGCCTGCCTGGGATGGCTGGAACAGG c.2580
Q G C D S G S A E Q H S P A W D G W N R p.860
. . . . . . g.28253
CCAGGCCTGCTGACCCCACAGCCCCTTAAGCCTCTAGCAGTGGGGGCTGGTGGCAGGGGG c.2640
P G L L T P Q P L K P L A V G A G G R G p.880
. . . . . . g.28313
CTGCAGCAGGCGGAGGGGGCCAGACCCTTCTCTGACAGCCTCAGCATTGGAGACTTCCTA c.2700
L Q Q A E G A R P F S D S L S I G D F L p.900
. . . . . . g.28373
CCTGTGGGCCCAGGGGCTGAGCCGTCCGTGCAGACTGGCATGGTCCCTCTCCTGGAGGTG c.2760
P V G P G A E P S V Q T G M V P L L E V p.920
. . . . . . g.28433
GCGCTGCAGACCATTAACTTGGACCTGCCCCCCTCAGCTCCTGGGGAGGCACCCGCAGCA c.2820
A L Q T I N L D L P P S A P G E A P A A p.940
. . . . . . g.28493
GCCAGCACTCAGCCCTCCAGGCCACAGGAGTACGACTTTAGTACTGTCCTGAGGCCAGCT c.2880
A S T Q P S R P Q E Y D F S T V L R P A p.960
. . . . . . g.28553
GTGGCCACCTCACCTGCACCAGGGCCCCTGCAGGCTGCAGAGTGCAGCTTGGGCAGCTCA c.2940
V A T S P A P G P L Q A A E C S L G S S p.980
. . . . . . g.28613
GGGCTACAGCTGTGGGAGGACAGTTGTGGGAAGATGGATGCCTGTGGCTCCGCCTCGCGG c.3000
G L Q L W E D S C G K M D A C G S A S R p.1000
. . . . . . g.28673
GAGACTCTGCTCCCCTCACACCCACCCAGGCGTGCTGCTCTGGAGGAGGGGAGCAGCCAG c.3060
E T L L P S H P P R R A A L E E G S S Q p.1020
. . . . . . g.28733
CCCACAGAGCGGCTCTTTGGGCAGGTGTCAGGGGGTGGTCTTCCCACAGGGGACTACGCT c.3120
P T E R L F G Q V S G G G L P T G D Y A p.1040
. . . . . . g.28793
TCTGAAATAGCTCCCACCCGGCCACGGTGGAACACCCACGGGCACGTGTCTGACGCCAGC c.3180
S E I A P T R P R W N T H G H V S D A S p.1060
. . . . . . g.28853
ATCAGGGTCGGGGAGAATGTGTCAGATGTGGCTCCCACCCAGCCACGGTGGAACACCCAC c.3240
I R V G E N V S D V A P T Q P R W N T H p.1080
. . . . . . g.28913
GGACACGTATCCAATGCCAGCATCAGCTTAGGGGAGTCTGTGTCAGATGTGGCTCCCACT c.3300
G H V S N A S I S L G E S V S D V A P T p.1100
. . . . . . g.28973
CGGCCACGGTGGAACATCCATGGACATGTGTCCAACGCCAGCATCAGGGTCGGGGAGAAT c.3360
R P R W N I H G H V S N A S I R V G E N p.1120
. . . . . . g.29033
GTGTCAGATGTGGCTCCCACCAGGCCACGGTGGAATACCCACGGGCACGTGTCCAACGCC c.3420
V S D V A P T R P R W N T H G H V S N A p.1140
. . . . . . g.29093
AGCATCAGGGTTGGGGAGAACGTGTCGGACGTGGCTCCCACCCGGCCACGGTGGAACACC c.3480
S I R V G E N V S D V A P T R P R W N T p.1160
. . . . . . g.29153
CATGGACACGTGTCCGATGCCAGCATCAGCTTGGGGGAGTCTGTGTCAGACATGGCTCCC c.3540
H G H V S D A S I S L G E S V S D M A P p.1180
. . . . . . g.29213
GCCCGGCCACGGTGGAACACCCATGGACACGTGTCTGATGCCAGCATCAGCTTGGGGGAG c.3600
A R P R W N T H G H V S D A S I S L G E p.1200
. . . . . . g.29273
TCTGTGTCAGACATGGCTCCCACCCGGCCACGGTGGAACACCCACGGACATGTGTCTGAC c.3660
S V S D M A P T R P R W N T H G H V S D p.1220
. . . . . . g.29333
ACCAGCATCAGGGTTGGGGAGAACGTATCGGACGTGGCTCCCATCCGGTCACGGTGCAAC c.3720
T S I R V G E N V S D V A P I R S R C N p.1240
. . . . . . g.29393
ACCCATGGACACGTGTCCGACGCCAGCATCAGCTTGGGGGAGCCTGTGTCGGATGTGGTT c.3780
T H G H V S D A S I S L G E P V S D V V p.1260
. . . . . . g.29453
TCCACCCGGCCACGGTGGAACACCCATGTACCCATCCCTCCGCCCCACATGGTGCTGGGG c.3840
S T R P R W N T H V P I P P P H M V L G p.1280
. . . . . . g.29513
GCTCTCTCACCAGAAGCTGAGCCCAACACACCCAGGCCCCAACAGAGCCCCCCTGGCCAC c.3900
A L S P E A E P N T P R P Q Q S P P G H p.1300
. . . . . . g.29573
ACGTCCCAGTCAGCGCTCAGCCTGGGAGCACAGAGCACTGTGCTGGACTGTGGGCCACGG c.3960
T S Q S A L S L G A Q S T V L D C G P R p.1320
. . . . . . g.29633
CTGCCTGTAGAAGTGGGGCCATCTCTGTCCTCCCCCAGCTCGGGCTGCGGGGAGGGGAGC c.4020
L P V E V G P S L S S P S S G C G E G S p.1340
. . . . . . g.29693
ATCAGCGTGGGGGAGAACGTGTCAGACGTGGCTCCCACCCAACCATGGTGGCCCAACACC c.4080
I S V G E N V S D V A P T Q P W W P N T p.1360
. . | 17 . . . g.29988
CCGGGAGACAGTGTCTCTGAAGAACTAG | GCCCTGGGAGGAGCGGGGACACTGAGGACCTC c.4140
P G D S V S E E L G | P G R S G D T E D L p.1380
. . | 18. . . . g.30213
TCTCCAAATTGGCCTCTCAACTCACAG | GAAGACACAGCTGCCCAGAGCAGCCCAGGCCGT c.4200
S P N W P L N S Q | E D T A A Q S S P G R p.1400
. . . . . . g.30273
GGTGAGGAGGCGGAGGCATCGGCGGCGGAGGCTCAGGGTGGGGAGCAGGCCTACCTGGCA c.4260
G E E A E A S A A E A Q G G E Q A Y L A p.1420
. . . . . | 19 . g.30520
GGCCTGGCAGGGCAGTACCACTTGGAGCGGTACCCGGACAGTTACGAGTCCATGT | CCGAG c.4320
G L A G Q Y H L E R Y P D S Y E S M S | E p.1440
. . . . . . g.30580
CCGCCCATTGCTCATCTTTTGCGCCCCGTGCTTCCCCGGGCCTTCGCCTTCCCCGTGGAC c.4380
P P I A H L L R P V L P R A F A F P V D p.1460
. . . . . . g.30640
CCCCAGGTCCAGTCTGCCGCTGATGAGACTGCTGTGCAGCTGAGCGAGTTGCTGACGCTG c.4440
P Q V Q S A A D E T A V Q L S E L L T L p.1480
. . . . | 20 . . g.30778
CCCGTGCTCATGAAGCGCTCCATCACGGCACCGCTGGCCGCCCA | CATCTCCTTGGTGAAC c.4500
P V L M K R S I T A P L A A H | I S L V N p.1500
. . . . . . g.30838
AAGGCCGCTGTCGACTACTTCTTCGTGGAGCTGCACCTGGAGGCGCACTATGAGGCACTG c.4560
K A A V D Y F F V E L H L E A H Y E A L p.1520
. . . . . . g.30898
CGGCACTTCCTGCTGATGGAGGACGGCGAGTTCGCCCAGTCCCTCAGCGACCTGCTCTTT c.4620
R H F L L M E D G E F A Q S L S D L L F p.1540
| 21 . . . . . . g.31128
GAGAAG | CTTGGAGCTGGGCAAACGCCCGGAGAGCTGCTCAACCCGCTGGTGCTGAACTCT c.4680
E K | L G A G Q T P G E L L N P L V L N S p.1560
. . . . . . g.31188
GTGCTGAGCAAGGCCCTGCAGTGCAGCCTGCATGGGGACACCCCGCACGCCTCCAACCTC c.4740
V L S K A L Q C S L H G D T P H A S N L p.1580
. . . . . . g.31248
TCCCTCGCTCTCAAGTACCTGCCCGAGGTGTTTGCCCCCAACGCCCCGGATGTGCTGAGC c.4800
S L A L K Y L P E V F A P N A P D V L S p.1600
. . | 22 . . . . g.31390
TGCCTGGAGCTCAGGTACAAG | GTGGACTGGCCTCTCAACATTGTCATCACCGAGGGCTGC c.4860
C L E L R Y K | V D W P L N I V I T E G C p.1620
. . . . . . g.31450
CTGAGCAAGTACAGCGGCGTCTTCTCCTTCCTGCTGCAGCTGAAGCTCATGATGTGGGCG c.4920
L S K Y S G V F S F L L Q L K L M M W A p.1640
. . . | 23 . . . g.31595
CTCAAGGACGTCTGCTTCCACCTCAAGCGCACAG | CCCTGCTGAGCCACATGGCCGGCTCT c.4980
L K D V C F H L K R T A | L L S H M A G S p.1660
. . . . . . g.31655
GTGCAGTTCCGTCAGCTGCAGCTGTTCAAGCACGAGATGCAGCATTTCGTGAAGGTCATC c.5040
V Q F R Q L Q L F K H E M Q H F V K V I p.1680
. . . . . . g.31715
CAGGGCTACATCGCCAACCAGATCCTGCACGTCACCTGGTGCGAGTTCAGGGCCAGGTTG c.5100
Q G Y I A N Q I L H V T W C E F R A R L p.1700
. . . . . . g.31775
GCCACCGTGGGCGACCTGGAGGAGATCCAGCGTGCGCACGCAGAGTACCTGCACAAGGCC c.5160
A T V G D L E E I Q R A H A E Y L H K A p.1720
| 24 . . . . . g.31906
GTCTTCAG | GGGCCTGCTCACGGAGAAGGCGGCGCCCGTCATGAACGTCATCCACAGCATC c.5220
V F R | G L L T E K A A P V M N V I H S I p.1740
. . . . . . g.31966
TTCAGCCTCGTGCTCAAGTTCCGCAGCCAGCTCATCTCCCAGGCCTGGGGGCCCCCTGGG c.5280
F S L V L K F R S Q L I S Q A W G P P G p.1760
. . . . . . g.32026
GGCCCGCGGGGTGCAGAGCACCCCAACTTTGCACTCATGCAGCAGTCCTACAACACCTTC c.5340
G P R G A E H P N F A L M Q Q S Y N T F p.1780
. . | 25 . . . g.32176
AAGTACTACTCCCACTTTCTCTTCAAAG | TGGTGACCAAGCTGGTGAACCGCGGCTACCAG c.5400
K Y Y S H F L F K V | V T K L V N R G Y Q p.1800
. . . . . . g.32236
CCCCACCTGGAGGACTTTCTGCTGCGCATCAACTTCAACAACTACTACCAGGACGCCTGA c.5460
P H L E D F L L R I N F N N Y Y Q D A X p.1819
. . . . g.32283
ggctgctctgcgggggacgtgcacaataaaggtgttctcggaccctg c.*47
(downstream sequence)
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