(used for variant description)
(last modified March 6, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_004715.4 in the CTDP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007988.1, covering CTDP1 transcript NM_004715.4.
(upstream sequence)
. . g.5027
ggaagtcggcgcgggctaggcgacggg c.-121
. . . . . . g.5087
tggaagccggtaccgagaggaactacagcgtcgccgcctgggttgtgtcgccgcggtagg c.-61
. . . . . . g.5147
cgctgcgctctgagcgcagcgcaggccccgtaccgaccgcccgcccgccctctgtccgcg c.-1
. . . . . . g.5207
ATGGAGGTGCCGGCCGCGGGTCGCGTTCCTGCCGAGGGCGCCCCGACGGCGGCTGTGGCC c.60
M E V P A A G R V P A E G A P T A A V A p.20
. . . . . . g.5267
GAGGTGCGCTGCCCGGGGCCCGCGCCGCTGCGCCTGCTGGAGTGGAGGGTGGCGGCGGGC c.120
E V R C P G P A P L R L L E W R V A A G p.40
. . . . . . g.5327
GCGGCCGTGCGCATCGGCTCGGTGCTGGCCGTGTTCGAGGCCGCCGCCTCCGCGCAGTCC c.180
A A V R I G S V L A V F E A A A S A Q S p.60
. . . . . . g.5387
TCCGGGGCCTCTCAGTCCCGTGTAGCCTCCGGGGGCTGCGTGCGCCCCGCGCGGCCGGAA c.240
S G A S Q S R V A S G G C V R P A R P E p.80
. . . . . . g.5447
CGCAGGCTGAGGTCGGAGCGCGCGGGCGTGGTGCGGGAGCTGTGCGCGCAGCCGGGCCAG c.300
R R L R S E R A G V V R E L C A Q P G Q p.100
. | 02 . . . . . g.20470
GTGGTCGCCCCAGG | AGCGGTTCTGGTGAGGTTGGAAGGATGCAGCCACCCGGTTGTCATG c.360
V V A P G | A V L V R L E G C S H P V V M p.120
. . . | 03 . . g.21198
AAAGGCCTGTGTGCTGAATGTGGCCAAGACCTCACCCA | GTTGCAGAGTAAGAACGGGAAG c.420
K G L C A E C G Q D L T Q | L Q S K N G K p.140
. . . . . . g.21258
CAGCAGGTGCCGCTGTCCACGGCGACCGTGTCCATGGTGCACAGCGTGCCGGAGTTGATG c.480
Q Q V P L S T A T V S M V H S V P E L M p.160
. | 04 . . . . . g.23107
GTGAGCTCCGAG | CAAGCTGAACAGCTGGGAAGAGAAGACCAGCAGCGACTGCACCGAAAC c.540
V S S E | Q A E Q L G R E D Q Q R L H R N p.180
. . . . . . g.23167
CGGAAGCTGGTGCTCATGGTGGACTTGGACCAGACGTTGATTCACACAACCGAGCAGCAC c.600
R K L V L M V D L D Q T L I H T T E Q H p.200
. . | 05 . . . . g.30005
TGTCAGCAGATGTCGAATAAA | GGCATCTTTCACTTCCAGCTGGGCCGGGGTGAGCCCATG c.660
C Q Q M S N K | G I F H F Q L G R G E P M p.220
. . . . . . g.30065
CTGCACACGCGCCTGCGTCCACACTGCAAGGACTTCCTGGAGAAGATCGCCAAGCTGTAC c.720
L H T R L R P H C K D F L E K I A K L Y p.240
. . . . . | 06 . g.35553
GAGCTGCACGTCTTCACCTTCGGCAGCCGGCTGTACGCACACACCATCGCAG | GCTTTTTA c.780
E L H V F T F G S R L Y A H T I A G | F L p.260
. . . . . . g.35613
GACCCCGAGAAGAAGCTTTTTTCTCACCGAATATTATCAAGGGATGAATGTATTGACCCA c.840
D P E K K L F S H R I L S R D E C I D P p.280
. . | 07 . . . . g.38208
TTTTCTAAAACGGGAAACCTTAG | AAATCTCTTTCCTTGTGGAGACTCAATGGTTTGCATT c.900
F S K T G N L R | N L F P C G D S M V C I p.300
. . . . . . g.38268
ATTGATGATCGAGAAGATGTCTGGAAGTTTGCCCCCAATCTGATAACTGTGAAGAAATAT c.960
I D D R E D V W K F A P N L I T V K K Y p.320
. . . . . . g.38328
GTATACTTCCAGGGCACGGGTGATATGAATGCGCCCCCTGGGTCCCGAGAATCTCAGACG c.1020
V Y F Q G T G D M N A P P G S R E S Q T p.340
. | 08 . . . . . g.39740
AGAAAGAAAG | TAAATCATTCTCGAGGCACTGAGGTCTCAGAGCCATCTCCGCCCGTGAGA c.1080
R K K V | N H S R G T E V S E P S P P V R p.360
. . . . . . g.39800
GACCCTGAGGGGGTAACGCAGGCCCCTGGAGTGGAGCCCAGCAATGGCCTGGAGAAGCCT c.1140
D P E G V T Q A P G V E P S N G L E K P p.380
. . . . . . g.39860
GCACGGGAGCTGAACGGCAGCGAGGCCGCCACCCCGCGGGACTCACCCCGCCCCGGGAAG c.1200
A R E L N G S E A A T P R D S P R P G K p.400
. . . . . . g.39920
CCAGACGAGAGGGACATCTGGCCCCCTGCCCAGGCCCCCACCAGCAGCCAAGAGCTGGCA c.1260
P D E R D I W P P A Q A P T S S Q E L A p.420
. . . . . . g.39980
GGCGCTCCTGAGCCCCAGGGATCCTGTGCGCAGGGTGGCCGGGTGGCACCGGGACAGCGG c.1320
G A P E P Q G S C A Q G G R V A P G Q R p.440
. . . . . . g.40040
CCTGCCCAGGGTGCCACGGGCACTGACCTGGACTTTGACTTATCCAGCGACAGCGAGAGC c.1380
P A Q G A T G T D L D F D L S S D S E S p.460
. . . . . . g.40100
AGCAGTGAGTCCGAGGGCACGAAGTCCTCCTCCTCCGCCTCTGATGGCGAAAGCGAGGGG c.1440
S S E S E G T K S S S S A S D G E S E G p.480
. . . . . . g.40160
AAAAGAGGCCGGCAGAAGCCGAAGGCTGCCCCAGAGGGAGCCGGGGCGCTGGCACAGGGC c.1500
K R G R Q K P K A A P E G A G A L A Q G p.500
. . . . . . g.40220
AGTTCCCTGGAGCCGGGGCGGCCTGCAGCACCGAGTCTCCCCGGAGAGGCCGAGCCTGGC c.1560
S S L E P G R P A A P S L P G E A E P G p.520
. . . . . . g.40280
GCGCATGCCCCGGACAAGGAGCCTGAGCTGGGTGGGCAGGAGGAGGGCGAGCGGGATGGC c.1620
A H A P D K E P E L G G Q E E G E R D G p.540
. . . . . . g.40340
CTCTGCGGCCTGGGCAACGGCTGTGCCGACAGGAAGGAGGCGGAGACCGAGTCACAGAAC c.1680
L C G L G N G C A D R K E A E T E S Q N p.560
. . . . . . g.40400
AGCGAGCTGTCGGGGGTCACTGCGGGTGAGTCCCTGGACCAGAGCATGGAGGAGGAGGAG c.1740
S E L S G V T A G E S L D Q S M E E E E p.580
. . . . . . g.40460
GAGGAGGACACGGATGAGGATGACCACCTCATCTACCTGGAGGAGATCCTGGTCCGTGTA c.1800
E E D T D E D D H L I Y L E E I L V R V p.600
. . . . . . g.40520
CACACTGACTACTATGCCAAGTATGACCGCTACCTCAACAAGGAGATCGAGGAGGCGCCG c.1860
H T D Y Y A K Y D R Y L N K E I E E A P p.620
. . . . . . g.40580
GACATCCGCAAGATCGTGCCGGAGCTCAAGAGCAAGGTGCTGGCAGACGTGGCCATAATT c.1920
D I R K I V P E L K S K V L A D V A I I p.640
. . . . . . g.40640
TTCAGTGGGCTACACCCGACAAACTTCCCGATAGAGAAGACGCGGGAGCATTACCACGCC c.1980
F S G L H P T N F P I E K T R E H Y H A p.660
. . . . . . g.40700
ACGGCGCTGGGAGCGAAGATCCTCACTCGGCTGGTGCTGAGCCCCGACGCCCCTGACAGG c.2040
T A L G A K I L T R L V L S P D A P D R p.680
. . | 09 . . . g.42766
GCCACGCACCTGATCGCCGCGCGAGCTG | GCACAGAGAAGGTGCTGCAGGCACAGGAGTGC c.2100
A T H L I A A R A G | T E K V L Q A Q E C p.700
. . . . . . g.42826
GGACACCTGCACGTGGTCAACCCTGACTGGCTGTGGAGCTGCCTGGAGCGCTGGGACAAG c.2160
G H L H V V N P D W L W S C L E R W D K p.720
. . . . . | 10 . g.43019
GTGGAGGAGCAGCTCTTCCCGCTCAGGGACGATCACACCAAGGCACAGAG | GGAGAACAGC c.2220
V E E Q L F P L R D D H T K A Q R | E N S p.740
. . . . . . g.43079
CCTGCGGCCTTTCCCGACCGGGAGGGTGTGCCCCCCACCGCCTTGTTCCACCCGATGCCG c.2280
P A A F P D R E G V P P T A L F H P M P p.760
. . . . . . g.43139
GTTCTTCCCAAGGCCCAGCCTGGCCCCGAGGTTCGGATCTACGACTCCAACACGGGGAAG c.2340
V L P K A Q P G P E V R I Y D S N T G K p.780
. . . . . . g.43199
CTCATCAGGACGGGCGCCCGGGGGCCCCCAGCACCCTCCAGCTCCCTACCCATCCGCCAG c.2400
L I R T G A R G P P A P S S S L P I R Q p.800
. | 11. . . . . g.54149
GAGCCCTCTTCCTTCAG | AGCGGTTCCGCCACCCCAGCCGCAGATGTTTGGTGAAGAGCTG c.2460
E P S S F R | A V P P P Q P Q M F G E E L p.820
. . . . . . g.54209
CCTGACGCTCAGGACGGAGAGCAGCCTGGCCCTTCTAGAAGAAAGCGACAGCCCAGTATG c.2520
P D A Q D G E Q P G P S R R K R Q P S M p.840
. . . . . . g.54269
TCTGAGACAATGCCGCTGTACACTCTTTGTAAGGAGGATTTAGAGAGTATGGACAAAGAG c.2580
S E T M P L Y T L C K E D L E S M D K E p.860
| 12 . . . . . . g.61614
| GTGGACGACATCCTTGGAGAAGGCAGCGACGACAGCGACAGCGAGAAGAGGAGGCCTGAG c.2640
| V D D I L G E G S D D S D S E K R R P E p.880
. . . . . . g.61674
GAGCAGGAGGAGGAGCCCCAGCCCCGGAAGCCAGGGACCCGCAGGGAGCGGACGCTCGGG c.2700
E Q E E E P Q P R K P G T R R E R T L G p.900
. . . . | 13. . g.78864
GCACCTGCGTCCAGCGAGAGGAGCGCGGCAGGGGGCCGGGGGCCCAG | AGGCCACAAGAGG c.2760
A P A S S E R S A A G G R G P R | G H K R p.920
. . . . . . g.78924
AAGCTGAATGAAGAGGACGCCGCCAGCGAGTCCAGCAGGGAGTCCAGCAACGAGGATGAG c.2820
K L N E E D A A S E S S R E S S N E D E p.940
. . . . . . g.78984
GGCAGCAGCTCCGAGGCCGACGAGATGGCCAAGGCGCTGGAGGCGGAGCTCAACGACCTC c.2880
G S S S E A D E M A K A L E A E L N D L p.960
g.78990
ATGTGA c.2886
M X p.961
. . . . . . g.79050
gcgcgggcagcgggcagggactgaagcctgaccgacctccagcagcactcggacgtcccc c.*60
. . . . . . g.79110
ggaccagccctcagtctcggtccacgctgctttcttcccaaaggacatgtatatttgcag c.*120
. . . . . . g.79170
agctccacatacagaaacacattattttgcagaaataggtgtttttaagaagttttacta c.*180
. . . . . . g.79230
caggaatgtctacttttgtaagtgacaggtgttaaaggcccaggtgtgctgtgccaaaga c.*240
. . . . . . g.79290
gctcagcagaggctcacgtggcccaggctggtgcgcccgctgtctcggtaaggggcgggt c.*300
. . . . . . g.79350
tggtgtgttttccccttgtgtaccagagcacattccttaggggacggctttgggggtccc c.*360
. . . . . . g.79410
acgagacatggactaggagtttaagcaggacagtgtgcgtgcacgagctccgagcccagc c.*420
. . . . . . g.79470
acagacatgcctggaacccccgccgcctgctgctccctcctagggaacccatttccgggg c.*480
. . . . . . g.79530
aacgccgtgactgtcgggcagcctggagcttcctgcagcctcctacgcagggtccacgcc c.*540
. . . . . . g.79590
acgtggcctgggctgccatcctgccgtcctcccactggcatcctggcaagggggcgttgc c.*600
. . . . . . g.79650
ttttcctgggcggccttttatgtcttggagacacctgatgtaaagtttctgtaaatctat c.*660
. . . . . . g.79710
ttcatatctgacccaccaaacagatttctctttaataaaaatcctttttgtaagttctct c.*720
(downstream sequence)
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