(used for variant description)
(last modified November 10, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_014633.3 in the CTR9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_051671.1, covering CTR9 transcript NM_014633.3.
(upstream sequence)
. . g.5029
gggaaggagaagccagagctccagcggcg c.-121
. . . . . . g.5089
ccgcggggcggcagtcaagaccagagccggagccgtcactcacctctggattagcctgaa c.-61
. . . . . . g.5149
gcggagactaccggctgcggagcggcggggcgagacacttgctcgccttttgaccccatc c.-1
. . . . | 02 . . g.6423
ATGTCGCGGGGCTCCATCGAGATTCCCCTCCGGGACACTGACGAG | GTCATTGAACTTGAC c.60
M S R G S I E I P L R D T D E | V I E L D p.20
. . . . . . g.6483
TTCGATCAGTTACCGGAGGGAGATGAAGTTATCAGTATTCTGAAACAGGAACACACACAA c.120
F D Q L P E G D E V I S I L K Q E H T Q p.40
. . | 03 . . . . g.8730
CTGCACATATGGATTGCTTTGGCG | CTGGAATACTACAAGCAAGGAAAAACAGAAGAGTTT c.180
L H I W I A L A | L E Y Y K Q G K T E E F p.60
. . . . . . g.8790
GTAAAATTGTTGGAAGCAGCACGTATAGATGGCAATTTGGACTATAGAGACCATGAAAAA c.240
V K L L E A A R I D G N L D Y R D H E K p.80
. . . . . . g.8850
GACCAGATGACTTGCTTGGATACATTGGCAGCGTATTATGTACAACAGGCTCGGAAAGAA c.300
D Q M T C L D T L A A Y Y V Q Q A R K E p.100
. . . . . . g.8910
AAGAATAAGGACAATAAAAAGGATCTTATTACACAGGCCACCTTGTTGTATACAATGGCC c.360
K N K D N K K D L I T Q A T L L Y T M A p.120
. . | 04 . . . . g.9450
GATAAAATTATTATGTATGATCAG | AACCATTTGTTGGGAAGAGCCTGCTTCTGCCTACTT c.420
D K I I M Y D Q | N H L L G R A C F C L L p.140
. . . . . . g.9510
GAGGGTGACAAAATGGATCAAGCTGATGCACAGTTTCATTTTGTACTCAATCAGTCTCCA c.480
E G D K M D Q A D A Q F H F V L N Q S P p.160
. . | 05 . . . . g.10523
AATAATATTCCAGCCCTTCTTG | GTAAAGCTTGCATTTCCTTCAACAAGAAGGATTACAGA c.540
N N I P A L L G | K A C I S F N K K D Y R p.180
. . . . . | 06 . g.13917
GGAGCTCTTGCTTACTATAAGAAAGCATTGCGTACTAACCCAGGATGTCCAG | CGGAAGTT c.600
G A L A Y Y K K A L R T N P G C P A | E V p.200
. . . . . . g.13977
CGTTTAGGAATGGGTCATTGCTTTGTGAAACTTAACAAACTGGAAAAAGCTCGTCTGGCA c.660
R L G M G H C F V K L N K L E K A R L A p.220
. . . . . . g.14037
TTCAGCAGAGCCCTGGAACTCAATTCCAAATGCGTGGGAGCATTGGTTGGACTGGCTGTT c.720
F S R A L E L N S K C V G A L V G L A V p.240
. . | 07 . . . . g.15722
CTAGAACTCAACAATAAAGAG | GCTGATTCCATTAAAAATGGTGTCCAGCTTCTTTCCAGA c.780
L E L N N K E | A D S I K N G V Q L L S R p.260
. . . . . . g.15782
GCCTATACTATTGATCCTAGCAACCCTATGGTATTGAACCATTTGGCAAATCACTTTTTC c.840
A Y T I D P S N P M V L N H L A N H F F p.280
| 08 . . . . . g.17218
TTCAAAAAG | GATTATAGTAAAGTCCAGCATCTGGCCCTCCATGCATTCCATAATACAGAA c.900
F K K | D Y S K V Q H L A L H A F H N T E p.300
. . . . . | 09. g.17382
GTGGAAGCTATGCAAGCAGAGAGCTGCTATCAGCTAGCTAGATCATTCCATGTTCAG | GAA c.960
V E A M Q A E S C Y Q L A R S F H V Q | E p.320
. . . . . . g.17442
GATTATGACCAAGCTTTTCAGTACTATTATCAAGCCACACAGTTTGCCTCATCCTCTTTT c.1020
D Y D Q A F Q Y Y Y Q A T Q F A S S S F p.340
. . . . . . g.17502
GTGCTCCCATTTTTTGGTTTGGGACAAATGTATATTTATCGAGGTGACAAAGAAAATGCA c.1080
V L P F F G L G Q M Y I Y R G D K E N A p.360
. . . . . . g.17562
TCTCAGTGCTTTGAGAAGGTTTTGAAAGCTTATCCTAATAATTACGAAACTATGAAAATT c.1140
S Q C F E K V L K A Y P N N Y E T M K I p.380
. . . . . | 10 . g.17854
CTCGGCTCTCTCTATGCTGCCTCAGAAGATCAAGAAAAACGAGATATTGCCAAG | GGCCAT c.1200
L G S L Y A A S E D Q E K R D I A K | G H p.400
. . . . . . g.17914
TTGAAGAAGGTCACAGAACAGTATCCCGATGATGTTGAAGCTTGGATTGAATTGGCACAA c.1260
L K K V T E Q Y P D D V E A W I E L A Q p.420
. . | 11 . . . . g.18080
ATCTTAGAACAGACTGATATACAG | GGTGCCCTTTCAGCCTATGGAACAGCAACACGAATC c.1320
I L E Q T D I Q | G A L S A Y G T A T R I p.440
. . . . . . g.18140
CTTCAGGAGAAAGTGCAGGCCGATGTTCCTCCAGAGATTCTCAATAATGTGGGTGCCCTC c.1380
L Q E K V Q A D V P P E I L N N V G A L p.460
. . . | 12 . . . g.18311
CATTTTAGACTTGGAAACCTAGGGGAGGCTAAG | AAATATTTTTTGGCGTCATTGGACCGT c.1440
H F R L G N L G E A K | K Y F L A S L D R p.480
. . . . . . g.18371
GCAAAAGCAGAAGCGGAACACGATGAGCATTACTATAACGCCATTTCCGTTACCACGTCA c.1500
A K A E A E H D E H Y Y N A I S V T T S p.500
. . . . . . g.18431
TATAATCTCGCCAGGCTATATGAGGCGATGTGTGAATTCCATGAAGCAGAAAAACTGTAT c.1560
Y N L A R L Y E A M C E F H E A E K L Y p.520
. . . | 13. . . g.20161
AAAAACATCTTACGCGAACATCCTAATTATGTTGACT | GCTATTTGCGCCTAGGAGCCATG c.1620
K N I L R E H P N Y V D C | Y L R L G A M p.540
. . . . . . g.20221
GCTAGAGATAAGGGAAACTTTTATGAGGCTTCAGATTGGTTTAAGGAAGCTCTTCAGATT c.1680
A R D K G N F Y E A S D W F K E A L Q I p.560
| 14 . . . . . . g.21596
AATCAG | GATCATCCAGATGCTTGGTCTTTGATTGGCAATCTTCATTTGGCAAAACAAGAA c.1740
N Q | D H P D A W S L I G N L H L A K Q E p.580
. . . . . . g.21656
TGGGGTCCTGGGCAGAAGAAGTTTGAGAGGATATTAAAACAGCCATCCACACAGAGTGAT c.1800
W G P G Q K K F E R I L K Q P S T Q S D p.600
. . . . . . g.21716
ACCTATTCTATGCTAGCCCTTGGCAACGTGTGGCTCCAAACTTTACATCAGCCCACCCGA c.1860
T Y S M L A L G N V W L Q T L H Q P T R p.620
. | 15 . . . . . g.21858
GATCGAGAAAAG | GAAAAGCGTCATCAAGATCGTGCTCTGGCCATCTACAAACAAGTACTC c.1920
D R E K | E K R H Q D R A L A I Y K Q V L p.640
. . . . | 16 . . g.22099
AGAAATGATGCAAAGAATCTGTATGCTGCCAATGGCATAG | GAGCTGTTTTGGCCCACAAA c.1980
R N D A K N L Y A A N G I G | A V L A H K p.660
. . . . . . g.22159
GGATATTTTCGTGAAGCTCGTGATGTATTTGCCCAAGTAAGAGAAGCAACAGCAGATATT c.2040
G Y F R E A R D V F A Q V R E A T A D I p.680
. . . . . . g.22219
AGTGATGTGTGGCTGAACTTAGCACACATCTATGTGGAGCAAAAGCAGTACATCAGCGCC c.2100
S D V W L N L A H I Y V E Q K Q Y I S A p.700
| 17 . . . . . g.23997
GTTCAGATG | TATGAAAACTGCCTCCGAAAGTTCTATAAGCACCAAAACACTGAAGTTGTA c.2160
V Q M | Y E N C L R K F Y K H Q N T E V V p.720
. . . . . . g.24057
CTCTATTTGGCCCGGGCCCTCTTCAAGTGTGGCAAGTTACAGGAATGCAAACAGACTTTG c.2220
L Y L A R A L F K C G K L Q E C K Q T L p.740
| 18 . . . . . . g.24277
CTGAAG | GCTAGACATGTGGCACCCAGTGATACAGTTCTTATGTTTAATGTGGCCTTGGTC c.2280
L K | A R H V A P S D T V L M F N V A L V p.760
. . . . . . g.24337
CTGCAAAGATTAGCTACCTCTGTCCTGAAAGATGAAAAAAGTAATCTGAAGGAAGTACTT c.2340
L Q R L A T S V L K D E K S N L K E V L p.780
. . . | 19 . . . g.25309
AATGCTGTGAAAGAACTGGAGCTTGCACATAG | ATACTTCAGTTATTTGAGTAAAGTGGGA c.2400
N A V K E L E L A H R | Y F S Y L S K V G p.800
. . . . | 20 . . g.26272
GATAAAATGAGATTTGATTTGGCCCTTGCTGCTACAGAAGCCAG | GCAGTGTTCTGACTTA c.2460
D K M R F D L A L A A T E A R | Q C S D L p.820
. . . . . . g.26332
CTGAGCCAGGCCCAGTACCATGTGGCCCGGGCACGCAAACAAGATGAAGAAGAGCGGGAG c.2520
L S Q A Q Y H V A R A R K Q D E E E R E p.840
. . . . . . g.26392
CTGCGGGCCAAGCAAGAGCAAGAAAAGGAGCTGTTAAGGCAGAAACTTCTTAAAGAACAG c.2580
L R A K Q E Q E K E L L R Q K L L K E Q p.860
| 21 . . . . . . g.26923
| GAAGAGAAACGTCTCAGAGAAAAGGAAGAGCAAAAGAAACTTTTGGAACAGCGGGCCCAG c.2640
| E E K R L R E K E E Q K K L L E Q R A Q p.880
. . . . . . g.26983
TATGTGGAGAAGACCAAAAATATTCTTATGTTTACTGGTGAGACTGAAGCAACAAAAGAG c.2700
Y V E K T K N I L M F T G E T E A T K E p.900
. . | 22. . . . g.27781
AAGAAAAGAGGTGGTGGTGGTGGACGG | CGTTCTAAGAAGGGAGGAGAGTTTGATGAATTT c.2760
K K R G G G G G R | R S K K G G E F D E F p.920
. . . . . . g.27841
GTCAATGATGACACTGATGATGACCTACCTATATCCAAAAAGAAGAAGAGAAGAAAGGGT c.2820
V N D D T D D D L P I S K K K K R R K G p.940
. . . . . . g.27901
AGTGGCAGTGAACAAGAAGGTGAAGATGAGGAGGGTGGTGAGAGAAAGAAGAAAAAGAGG c.2880
S G S E Q E G E D E E G G E R K K K K R p.960
| 23 . . . . . . g.28998
AGAAG | ACATCCAAAGGGAGAAGAAGGATCTGATGATGATGAAACAGAAAATGGCCCCAAA c.2940
R R | H P K G E E G S D D D E T E N G P K p.980
. . . . | 24 . . g.29275
CCAAAAAAACGACGTCCACCAAAAGCAGAGAAGAAAAAGGCT | CCCAAGCCAGAACGTCTG c.3000
P K K R R P P K A E K K K A | P K P E R L p.1000
. . . . . . g.29335
CCTCCATCAATGAAGGGAAAAATAAAATCCAAAGCCATAATTTCATCAAGTGATGACTCT c.3060
P P S M K G K I K S K A I I S S S D D S p.1020
. . . | 25 . . . g.32440
TCGGATGAGGATAAACTTAAAATTGCTGATGAAGG | ACATCCCAGGAACAGCAACAGCAAC c.3120
S D E D K L K I A D E G | H P R N S N S N p.1040
. . . . . . g.32500
AGTGACTCAGACGAGGACGAACAACGAAAGAAATGTGCCTCATCAGAGAGTGATTCCGAT c.3180
S D S D E D E Q R K K C A S S E S D S D p.1060
. . . . . . g.32560
GAGAACCAGAACAAGTCTGGCAGCGAGGCCGGCAGTCCCCGGAGGCCACGAAGACAGCGG c.3240
E N Q N K S G S E A G S P R R P R R Q R p.1080
. . . . . . g.32620
TCAGATCAGGACTCAGACAGTGACCAGCCATCCAGAAAGAGAAGGCCCTCCGGTTCTGAG c.3300
S D Q D S D S D Q P S R K R R P S G S E p.1100
. . . . . . g.32680
CAGTCTGACAATGAATCTGTGCAGTCAGGGAGAAGCCACTCAGGAGTTTCTGAGAACGAC c.3360
Q S D N E S V Q S G R S H S G V S E N D p.1120
. . . . . . g.32740
TCTCGCCCAGCTTCTCCAAGTGCCGAATCAGATCACGAATCGGAGAGAGGATCTGATAAT c.3420
S R P A S P S A E S D H E S E R G S D N p.1140
. . . . . . g.32800
GAGGGTTCTGGCCAAGGCTCTGGAAATGAATCGGAACCAGAGGGATCCAACAATGAGGCC c.3480
E G S G Q G S G N E S E P E G S N N E A p.1160
. . . . g.32842
TCAGATAGAGGCTCAGAACATGGGTCAGATGATAGTGACTAG c.3522
S D R G S E H G S D D S D X p.1173
. . . . . . g.32902
gttttatttcatcaataagcttcatctctggaggaaacttttttaatatatgaaagctgt c.*60
. . . . . . g.32962
gataaaaatgtttcagatgtttagtcaattgtgaaatttttcttaaggcaattttctttt c.*120
. . . . . . g.33022
ctatcagtttgtatattactaagccccaagagacatttcctgtgctagagtccaatattt c.*180
. . . . . . g.33082
gagtctctcgtgcaaatgagactattctttgtggtacaattccacctatcatatgtgaaa c.*240
. . . . . . g.33142
actgcagtaaaaataaacccagatgctaaatcattcctacaaaggtttgactgaaactgt c.*300
. . . . . . g.33202
ggcagatgtctcatcttctttatatgttaagcagcatactcttctgatttttattgcaat c.*360
. . . . . . g.33262
cttttaccaagtggtgcacaaacttggtattgatgtctttattccattttgagtttagat c.*420
. . . . . . g.33322
tgagaatatttttattttctgaaggcagagatatctactgtataattgcaccaaagtaca c.*480
. . . . . . g.33382
tttgaaaggaaggttttcaatagtgtaatactgcagcgatgtagataaaatcacaaatgt c.*540
. . . . . . g.33442
ataatgtgttaggttgaataaggtgtggaaaatgcttttctgttagtagaatgcaaaaac c.*600
. . . g.33480
ctacctaagccacataataataaaattcttttaccaac c.*638
(downstream sequence)
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