(used for variant description)
(last modified April 13, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_025099.5 in the CTC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering CTC1 transcript NM_025099.5.
(upstream sequence)
. . . . . g.5059
ccccatccccacccccaagcgagcacctgcccctcccgggggcggagctccggcgcatc c.-1
. . . | 02 . . . g.9974
ATGGCGGCTGGCCGGGCCCAGGTCCCTTCCTCC | GAACAAGCCTGGCTTGAGGATGCTCAG c.60
M A A G R A Q V P S S | E Q A W L E D A Q p.20
. . . . . . g.10034
GTCTTCATCCAAAAGACCCTGTGTCCAGCTGTCAAGGAGCCTAATGTCCAGTTGACTCCA c.120
V F I Q K T L C P A V K E P N V Q L T P p.40
. . . . . . g.10094
TTGGTAATTGATTGTGTGAAGACTGTCTGGTTGTCCCAGGGAAGGAACCAAGGTTCTACA c.180
L V I D C V K T V W L S Q G R N Q G S T p.60
. | 03. . . . . g.14509
CTGCCCCTCAGCTATAG | CTTCGTCTCAGTACAGGACCTCAAGACTCACCAGCGTCTCCCA c.240
L P L S Y S | F V S V Q D L K T H Q R L P p.80
. . . . . . g.14569
TGCTGCAGCCACCTGTCGTGGAGCAGTAGTGCATACCAGGCCTGGGCCCAAGAGGCTGGA c.300
C C S H L S W S S S A Y Q A W A Q E A G p.100
. . . . . . g.14629
CCAAATGGGAACCCCCTGCCCCGAGAGCAGCTGTTACTTTTAGGGACACTAACAGACCTA c.360
P N G N P L P R E Q L L L L G T L T D L p.120
. . . . . . g.14689
TCGGCAGACTTGGAACAAGAGTGCAGGAACGGAAGCCTCTATGTGAGAGATAACACTGGC c.420
S A D L E Q E C R N G S L Y V R D N T G p.140
. | 04 . . . . . g.14898
GTCCTGAGCTGTGAG | CTCATAGACCTGGACCTTTCTTGGTTGGGCCATCTTTTTCTGTTC c.480
V L S C E | L I D L D L S W L G H L F L F p.160
. . . . . . g.14958
CCCCGTTGGAGTTACCTCCCTCCTGCCAGGTGGAATTCCTCAGGGGAAGGGCACTTGGAG c.540
P R W S Y L P P A R W N S S G E G H L E p.180
. . . . . . g.15018
CTGTGGGATGCCCCTGTGCCAGTGTTTCCTTTGACCATCAGTCCTGGCCCCGTCACGCCT c.600
L W D A P V P V F P L T I S P G P V T P p.200
. . . . | 05. . g.15589
ATCCCTGTCCTCTACCCAGAGAGTGCTTCCTGCCTGCTCAGGCTCAG | AAACAAGCTCAGA c.660
I P V L Y P E S A S C L L R L R | N K L R p.220
. . . . . . g.15649
GGTGTGCAGCGAAACCTGGCTGGGAGTCTAGTTCGATTGAGTGCTCTGGTGAAAAGTAAA c.720
G V Q R N L A G S L V R L S A L V K S K p.240
. . . . . . g.15709
CAGAAAGCTTACTTCATCCTGTCTCTTGGTAGATCACACCCAGCTGTCACCCACGTGTCC c.780
Q K A Y F I L S L G R S H P A V T H V S p.260
. | 06 . . . . . g.16801
ATCATCGTGCAG | GTCCCTGCCCAGCTGGTGTGGCACAGAGCCCTTCGGCCTGGTACAGCC c.840
I I V Q | V P A Q L V W H R A L R P G T A p.280
. . . . . . g.16861
TATGTGCTGACAGAACTGCGAGTGTCCAAGATCCGTGGTCAGCGCCAGCATGTTTGGATG c.900
Y V L T E L R V S K I R G Q R Q H V W M p.300
. . . . . . g.16921
ACCAGTCAGTCCTCCCGTCTGTTGCTGCTGAAACCAGAATGTGTGCAGGAGCTGGAACTG c.960
T S Q S S R L L L L K P E C V Q E L E L p.320
. . . . . . g.16981
GAGCTGGAAGGACCCCTCTTAGAGGCTGACCCCAAGCCACTCCCCATGCCCAGCAACTCG c.1020
E L E G P L L E A D P K P L P M P S N S p.340
. . . . . | 07. g.17139
GAGGACAAGAAGGATCCAGAAAGTCTTGTCCGGTATTCTAGACTCCTATCCTATTCG | GGA c.1080
E D K K D P E S L V R Y S R L L S Y S | G p.360
. . . . . . g.17199
GCAGTCACTGGCGTGTTGAATGAGCCCGCTGGCCTCTATGAGCTGGATGGGCAGCTGGGG c.1140
A V T G V L N E P A G L Y E L D G Q L G p.380
. . . . . . g.17259
CTCTGCCTTGCCTACCAGCAGTTCCGTGGCCTTAGGCGGGTGATGCGACCTGGAGTGTGT c.1200
L C L A Y Q Q F R G L R R V M R P G V C p.400
| 08 . . . . . . g.17864
CTGCAG | CTCCAGGATGTTCACCTGCTCCAGTCAGTGGGAGGGGGGACAAGAAGGCCAGTG c.1260
L Q | L Q D V H L L Q S V G G G T R R P V p.420
. . . . . . g.17924
CTCGCCCCCTGCCTCCGTGGCGCCGTTCTGCTTCAAAGCTTCTCTCGTCAGAAGCCTGGG c.1320
L A P C L R G A V L L Q S F S R Q K P G p.440
. . . . . . g.17984
GCTCACTCATCCCGTCAAGCCTACGGGGCCTCCCTGTACGAGCAGCTGGTGTGGGAACGT c.1380
A H S S R Q A Y G A S L Y E Q L V W E R p.460
. . . . . | 09 g.18170
CAGTTAGGACTTCCCCTCTACCTGTGGGCTACCAAGGCCCTGGAGGAGCTGGCCTGCAA | G c.1440
Q L G L P L Y L W A T K A L E E L A C K | p.480
. . . . . . g.18230
CTGTGTCCCCATGTGCTGAGACACCACCAGTTCCTGCAACATTCCTCTCCTGGGAGCCCC c.1500
L C P H V L R H H Q F L Q H S S P G S P p.500
. . . . . . g.18290
AGCCTGGGACTGCAACTCCTGGCTCCTACCCTGGATCTTCTAGCTCCGCCAGGCAGCCCT c.1560
S L G L Q L L A P T L D L L A P P G S P p.520
. . . . . | 10. g.18443
GTTCGGAATGCACACAATGAGATCCTTGAAGAGCCACATCACTGTCCCCTCCAGAAA | TAC c.1620
V R N A H N E I L E E P H H C P L Q K | Y p.540
. . . . . . g.18503
ACTCGGCTGCAGACTCCCTCCTCCTTCCCCACTCTGGCCACCCTGAAAGAAGAAGGACAG c.1680
T R L Q T P S S F P T L A T L K E E G Q p.560
. . . . . . g.18563
CGTAAGGCCTGGGCCTCCTTTGACCCTAAGGCCCTTCTGCCCCTCCCGGAGGCCTCCTAC c.1740
R K A W A S F D P K A L L P L P E A S Y p.580
. . . . . . g.18623
CTGCCCAGCTGCCAACTCAATCGCCGCCTGGCTTGGTCCTGGCTCTGTCTGCTGCCCTCT c.1800
L P S C Q L N R R L A W S W L C L L P S p.600
. | 11 . . . . g.20105
GCCTTCTGCCCAGCCCAG | GTTTTACTTGGGGTTCTGGTGGCTTCATCTCATAAAGGTTGT c.1860
A F C P A Q | V L L G V L V A S S H K G C p.620
. . . . . . g.20165
CTGCAACTTCGGGACCAAAGTGGTTCCCTGCCCTGCCTGCTCCTGGCCAAGCACTCTCAA c.1920
L Q L R D Q S G S L P C L L L A K H S Q p.640
. . | 12 . . . . g.20655
CCCCTCAGTGACCCACGGCTGATAG | GCTGCCTGGTGCGGGCAGAGAGGTTTCAGTTGATC c.1980
P L S D P R L I G | C L V R A E R F Q L I p.660
. . . . . . g.20715
GTAGAGAGGGACGTGAGAAGCAGCTTCCCTTCCTGGAAGGAGCTGAGCATGCCAGGCTTC c.2040
V E R D V R S S F P S W K E L S M P G F p.680
. . | 13 . . . . g.20908
ATCCAGAAGCAGCAGGCCAG | AGTCTATGTCCAGTTCTTTCTGGCTGATGCCCTGATCCTG c.2100
I Q K Q Q A R | V Y V Q F F L A D A L I L p.700
. . . . . . g.20968
CCTGTGCCCAGACCCTGCCTTCATTCAGCAACACCCTCAACACCTCAGACAGATCCCACC c.2160
P V P R P C L H S A T P S T P Q T D P T p.720
. . . . . . g.21028
GGCCCAGAGGGACCCCACCTAGGACAGAGCCGGCTCTTCTTGCTCTGCCACAAGGAGGCC c.2220
G P E G P H L G Q S R L F L L C H K E A p.740
. . . . . . g.21088
CTCATGAAGCGTAATTTTTGTGTCCCCCCAGGAGCAAGTCCAGAGGTGCCCAAGCCCGCC c.2280
L M K R N F C V P P G A S P E V P K P A p.760
. . . . . . g.21148
CTCAGTTTCTATGTGTTGGGGAGCTGGCTTGGGGGCACCCAGAGGAAGGAGGGTACTGGA c.2340
L S F Y V L G S W L G G T Q R K E G T G p.780
. . . . | 14 . . g.21295
TGGGGGCTGCCCGAGCCCCAGGGAAATGACGACAATGATCAGAAG | GTTCACCTCATTTTC c.2400
W G L P E P Q G N D D N D Q K | V H L I F p.800
. . . . . . g.21355
TTTGGCTCTTCAGTCCGCTGGTTTGAGTTCTTGCACCCGGGACAGGTGTACCGACTCATA c.2460
F G S S V R W F E F L H P G Q V Y R L I p.820
. | 15 . . . . . g.21671
GCTCCTGGCCCCGCT | ACACCAATGTTGTTTGAAAAGGATGGTTCATCCTGCATATCTCGG c.2520
A P G P A | T P M L F E K D G S S C I S R p.840
. . . . . . g.21731
CGTCCTCTGGAGTTGGCTGGCTGTGCATCCTGCCTCACTGTCCAGGACAACTGGACTCTG c.2580
R P L E L A G C A S C L T V Q D N W T L p.860
. . . . . . g.21791
GAGCTTGAAAGCTCCCAGGATATCCAAGATGTGCTGGATGCAAACAAGTCATTGCCTGAA c.2640
E L E S S Q D I Q D V L D A N K S L P E p.880
. . | 16 . . . g.22475
TCCTCACTGACCGACCTGCTCAGTGACAA | TTTCACAGATTCCTTGGTGTCTTTCTCCGCT c.2700
S S L T D L L S D N | F T D S L V S F S A p.900
. . . . . | 17 g.22629
GAGATTTTGTCACGGACACTATGTGAACCCCTTGTGGCGTCTCTCTGGATGAAACTGG | GG c.2760
E I L S R T L C E P L V A S L W M K L G | p.920
. . . . . . g.22689
AACACGGGGGCCATGAGAAGGTGTGTGAAGCTAACAGTCGCTCTTGAGACTGCTGAATGT c.2820
N T G A M R R C V K L T V A L E T A E C p.940
. . . . . . g.22749
GAATTCCCCCCTCACCTGGATGTATATATAGAAGACCCACACTTGCCTCCCTCACTAGGA c.2880
E F P P H L D V Y I E D P H L P P S L G p.960
. . . . . | 18 . g.23134
CTACTTCCAGGAGCCCGGGTCCACTTCAGCCAGTTGGAGAAAAGGGTTTCCAG | ATCTCAC c.2940
L L P G A R V H F S Q L E K R V S R | S H p.980
. . . . . . g.23194
AATGTTTATTGTTGTTTCCGGTCATCCACTTATGTGCAGGTCCTGAGTTTTCCCCCTGAG c.3000
N V Y C C F R S S T Y V Q V L S F P P E p.1000
. | 19 . . . . . g.23698
ACCACCATCAG | CATTCCCCTGCCCCACATCTACCTGGCTGAACTTCTGCAGGGTGGTCAG c.3060
T T I S | I P L P H I Y L A E L L Q G G Q p.1020
. . . . . . g.23758
TCCCCATTCCAGGCCACTGCCTCTTGCCATATCGTCTCTGTCTTCAGCCTTCAGCTCTTC c.3120
S P F Q A T A S C H I V S V F S L Q L F p.1040
. . . | 20 . . . g.23913
TGGGTGTGTGCTTATTGTACCAGCATCTGCCGGCAG | GGAAAGTGCACTCGCCTGGGCTCC c.3180
W V C A Y C T S I C R Q | G K C T R L G S p.1060
. . . . | 21 . . g.24222
ACTTGCCCTACGCAGACAGCTATAAGCCAGGCCATCATCAG | GCTCCTGGTGGAGGATGGG c.3240
T C P T Q T A I S Q A I I R | L L V E D G p.1080
. . . . . . g.24282
ACTGCCGAAGCCGTGGTGACCTGTAGGAATCACCATGTGGCAGCAGCACTAGGGCTGTGT c.3300
T A E A V V T C R N H H V A A A L G L C p.1100
. . . . . . g.24342
CCTAGAGAGTGGGCCTCCCTCCTAGATTTCGTCCAAGTGCCAGGCAGAGTGGTCTTGCAG c.3360
P R E W A S L L D F V Q V P G R V V L Q p.1120
. . | 22. . . . g.24499
TTTGCAGGGCCTGGAGCCCAACTTGAG | TCTTCAGCCAGGGTTGACGAGCCCATGACCATG c.3420
F A G P G A Q L E | S S A R V D E P M T M p.1140
. . . . . . g.24559
TTCCTCTGGACACTTTGTACTAGCCCCTCTGTCCTCCGTCCTATTGTGCTTTCTTTTGAG c.3480
F L W T L C T S P S V L R P I V L S F E p.1160
. . . | 23 . . . g.24802
CTGGAAAGGAAACCGTCGAAGATCGTCCCATTAG | AACCTCCTCGGCTACAGCGATTCCAG c.3540
L E R K P S K I V P L E | P P R L Q R F Q p.1180
. . . . . . g.24862
TGTGGAGAGCTCCCTTTCCTGACTCACGTGAACCCCAGGCTCCGATTGTCCTGCCTTTCT c.3600
C G E L P F L T H V N P R L R L S C L S p.1200
. . . . . g.24916
ATCCGAGAGTCAGAGTACTCCAGCTCTCTGGGGATCCTTGCTTCCTCCTGTTAA c.3654
I R E S E Y S S S L G I L A S S C X p.1217
. . . . . . g.24976
ctgaactgcaaggatggcctgagagtccttccttgctgaaaacctgaaggcctaggtcct c.*60
. . . . . . g.25036
ggctcctctccctacttgttctgtgattgaaccaaggactccagattcacaaactgctac c.*120
. . . . . . g.25096
tccactataatttcccttctttggtgttctggtgccagcctgccttggcaaaattgtggc c.*180
. . . . . . g.25156
aacaggaaatcatggccctattaatatgtcctctgattgggacaaggcacctgcattcac c.*240
. . . . . . g.25216
aggcggccctgagcacctgggttctgactttgtcgcaggagctgagggaacaaaagactt c.*300
. . . . . . g.25276
gctcgctgtggggtgatggtgacaggcctattgacctgcaatgaagccctctggtgtcat c.*360
. . . . . . g.25336
ttctcactggtactcatctctggggtcccaggcctcctgactcctagttgtccacctcct c.*420
. . . . . . g.25396
aggaactcctagtcgttcatcatcatttcagccctttgccgccagggccaaaggtggaaa c.*480
. . . . . . g.25456
gtgatttggaagagaagagcttttcgtccagcagaagaaatggtaccaaaatcagtctgt c.*540
. . . . . . g.25516
aaaggaagtaaattggggagttggcggcaaggcagagagcatagctatgatggtctcagt c.*600
. . . . . . g.25576
cagtaaggctgggccctgcaggaagtcaaatatgaatgcctagaggtgttcacaagcaca c.*660
. . . . . . g.25636
aagaaggtgtagggggaggcaagtgccaggcacaagcaggggcaggtgaggactctgggt c.*720
. . . . . . g.25696
gactgtgctatagggccccaggctacggttagccctgtaggtttcccaagggcctggcct c.*780
. . . . . . g.25756
aaggcagatccttgatcgatataccttgagaccagaaggtgctccgaaatcacaaccgta c.*840
. . . . . . g.25816
caattaggggatctaggaacaattctttggagataccaatgcctttggctggtgttgctg c.*900
. . . . . . g.25876
catttctttactggggactgatagatggagaggtggaaagatgagctgaggcacatcttt c.*960
. . . . . . g.25936
cagagctactgggaggccatttcttcctggctgttaggatttgttcgtgtttgggagacc c.*1020
. . . . . . g.25996
tttagagcgtggttaaacccatatgttgggatttatgctgcttttatggtagcaataccc c.*1080
. . . . . . g.26056
tatattaagatttgaagtagacccggaaagttagtggccggttagctcagttggttagag c.*1140
. . . . . . g.26116
cgtggtgctaataacgccaaggtcgcgggttcgaaccccgtacgggccagtgggtggctt c.*1200
. . . . . . g.26176
ttttttgtgtgtgttttgttttctgaccctctgctgttatccggaagtttctacccggag c.*1260
. . . . . . g.26236
ccagttgccttctggtaacagaattatattgcacctactgcttcctattccctgaatcac c.*1320
. . . . . . g.26296
tagcgctcccgaaggcttggagggaggagtctctgggcacccgggtgaaaggaaggttca c.*1380
. . . . . . g.26356
cgtgcaaccgccgcgtctttttttccctgaagcgctttcatggaggcagatgtttgtcag c.*1440
. . . . . . g.26416
tcaagggaagtaagaaaggcattggatgaaaacgaagccctaagcctcgtagtcgtggcc c.*1500
. . . . . . g.26476
gagtggttaaggcgatggactagaaatccattggggtctccccgcgcaggttcgaatcct c.*1560
. . . . . . g.26536
gccgactacgtcatatttttttcttcagcatactgaccatatttctctccaggatgggat c.*1620
. . . . . . g.26596
gatccagtcggcaccctccaaacctctcatctaggaactctagaatcgagaatttgattt c.*1680
. . . . . . g.26656
agagtctatgattttggtttgaaatctatgattaacgtctttggacattgaaggaaatcc c.*1740
. . . . . . g.26716
gaggaatggacaagtgatgcaagagccagttgagttaccaaattagttctagaaagatct c.*1800
. . . . . . g.26776
gaaaaagctcggtccgggttcctagctctatattcttgtagatgaatttcaggaaccttt c.*1860
. . . . . . g.26836
atggcagcttcggcgccgtggcttagttggttaaagcgcctgtctagtaaacaggagatc c.*1920
. . . . . . g.26896
ctgggttcgaatcccagcggtgcctttattcaattgaaacagcgtgattttgcggctaaa c.*1980
. . . . . . g.26956
tccacatcctttcatgtattgtttttatatcagaacgcgtaagagtttctgttctgcact c.*2040
. . . . . . g.27016
catagcacccacatttcctgcagagtcaagctgccactcccatgagatcgccactctaaa c.*2100
. . . . . . g.27076
aggtggttctctaacttaggggcagaaatgttgcataggcctaagggtcctttgcttaac c.*2160
. . . . . . g.27136
tgatgccacaccccactggtgcaggtggactgggtcaggcggccgccccaccctcgatgg c.*2220
. . . . . . g.27196
aaggggctgcccaccttccaggcctctttctccaccctaggacgtcccctagaacctgag c.*2280
. . . . . . g.27256
ccactttgttttgtttggctcttcattatagttctttgggtttggtggctcataatgtta c.*2340
. . . . . . g.27316
tatatatagtatataatataaaaatatatatttaaatatacagtatttaaaatttggcac c.*2400
. . . . . . g.27376
agcttccagatgcggtcctctaactggtctttcacttgcagttacctccatccctctcca c.*2460
. . . . . . g.27436
ccagcgggatgtcagggtaaggagtaagcagggatccggctggcctggcctggcctggca c.*2520
. . . . . . g.27496
ccaggtttcgtgcagcagggtgcagaagggctgaggccatgtgaacagagtccaagaaag c.*2580
. . . . . . g.27556
catcattcgggagtcgctagggatcctggtgtggaagggcagggcacttttctggagcac c.*2640
. . . . . . g.27616
tgaagctaggctggttaaggaagaaataaatgccagagataaggcaagaaataggatctg c.*2700
. . . . . . g.27676
tgagctcttggcaggacctaaacctccttggaagataggcagaaagctctcgacaccatt c.*2760
. . . . . . g.27736
ccatggcccacgaaccaatgtaagatgagcaaatggcttgaaggaattgctacctccagg c.*2820
. . . . . . g.27796
tcaagccagggatgcagcactgccgagaccacgtttgtgccaagcactgggctggaccct c.*2880
. . . . . . g.27856
gtgcagaaccaaatgaacaaggcacgttcccctttcagcactaacggcactgtaagaaca c.*2940
. . . . . . g.27916
gggagaagtggaatctaatctggcctgagggtagagggtgatcagctaagtctgaaacac c.*3000
. . . . . . g.27976
catgtagaaacttgccatgtatggccgggcgcggtggctcacgcctgtaatcccagcgct c.*3060
. . . . . . g.28036
ttgggaggccaaggtgggcggatcacgaggtcaggagttccagaccagcagcctggccaa c.*3120
. . . . . . g.28096
catagtgaaacctggtaacatagtgaaacctcgtctctactaaaaatgcaaaaaattagc c.*3180
. . . . . . g.28156
caggcgtggtggcaggcgcctgcagtcctagctacttgggaggctgaggcaagagaatcg c.*3240
. . . . . . g.28216
cttcaaccttggaggggggaggaggtgttgtcagccgagatcgcgccactgcatcccagc c.*3300
. . . . . g.28275
ctgggcaacaagagtgaaactccgtctcaaaaaaatgaaataaaataaacgaatgatca c.*3359
(downstream sequence)
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