(used for variant description)
(last modified July 14, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000083.2 in the CLCN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009815.1, covering CLCN1 transcript NM_000083.2.
(upstream sequence)
. . g.5027
agcaagagcagaggcttaaggagctac c.-61
. . . . . . g.5087
actgggggaaggacaggggcaagcaggccaaggcctggccggggctcggggggagggaat c.-1
. . . . . . g.5147
ATGGAGCAATCCCGGTCACAGCAGCGTGGGGGTGAACAAAGCTGGTGGGGTAGTGACCCC c.60
M E Q S R S Q Q R G G E Q S W W G S D P p.20
. . . . . . g.5207
CAGTACCAGTATATGCCCTTTGAACACTGCACCAGCTACGGACTGCCCTCTGAGAATGGG c.120
Q Y Q Y M P F E H C T S Y G L P S E N G p.40
. . . . . . g.5267
GGCCTCCAGCACAGGCTCCGGAAGGATGCAGGCCCCCGCCACAACGTCCACCCCACACAG c.180
G L Q H R L R K D A G P R H N V H P T Q p.60
| 02 . . . . . . g.8689
| ATTTATGGCCATCACAAAGAACAATTCTCAGACAGGGAGCAGGACATAGGGATGCCCAAG c.240
| I Y G H H K E Q F S D R E Q D I G M P K p.80
. . . . . . g.8749
AAGACAGGCTCCAGTTCTACCGTGGACAGCAAGGATGAGGATCACTATTCTAAATGTCAA c.300
K T G S S S T V D S K D E D H Y S K C Q p.100
| 03 . . . . . . g.9597
G | ATTGTATCCACCGCCTGGGACAGGTGGTGAGAAGAAAATTAGGGGAAGACTGGATCTTT c.360
D | C I H R L G Q V V R R K L G E D W I F p.120
. . . . . . g.9657
CTGGTGCTTCTGGGACTGCTGATGGCTCTGGTCAGCTGGAGCATGGACTACGTCAGTGCC c.420
L V L L G L L M A L V S W S M D Y V S A p.140
. | 04 . . . . . g.10286
AAAAGCCTTCAGG | CCTACAAGTGGTCCTACGCGCAGATGCAGCCCAGCCTTCCTCTGCAG c.480
K S L Q A | Y K W S Y A Q M Q P S L P L Q p.160
. . . . . . g.10346
TTCCTGGTCTGGGTCACCTTCCCACTAGTCCTCATCCTCTTCAGCGCCCTCTTCTGCCAC c.540
F L V W V T F P L V L I L F S A L F C H p.180
. . | 05 . . . . g.10627
CTCATCTCTCCCCAGGCTGTTG | GCTCTGGAATCCCCGAAATGAAGACAATACTTCGTGGG c.600
L I S P Q A V G | S G I P E M K T I L R G p.200
. . . . . . g.10687
GTTGTCCTGAAGGAATACCTCACAATGAAAGCCTTTGTGGCCAAGGTTGTCGCCCTGACT c.660
V V L K E Y L T M K A F V A K V V A L T p.220
. . . | 06 . . . g.12207
GCGGGCCTGGGCAGTGGCATCCCCGTGGGGAAAGAG | GGCCCCTTCGTCCACATTGCCAGC c.720
A G L G S G I P V G K E | G P F V H I A S p.240
. . . . . | 07 . g.13294
ATCTGTGCTGCTGTCCTCAGCAAATTCATGTCTGTGTTCTGCGGGGTATATGAG | CAGCCA c.780
I C A A V L S K F M S V F C G V Y E | Q P p.260
. . . . . . g.13354
TACTACTACTCTGATATCCTGACGGTGGGCTGTGCTGTGGGAGTCGGCTGTTGTTTTGGG c.840
Y Y Y S D I L T V G C A V G V G C C F G p.280
. | 08 . . . . . g.19693
ACACCACTTGGAG | GAGTGCTATTTAGCATCGAGGTCACCTCCACCTACTTTGCTGTTCGG c.900
T P L G G | V L F S I E V T S T Y F A V R p.300
. . . . . . g.19753
AACTACTGGAGAGGATTCTTTGCAGCCACGTTCAGCGCCTTTGTGTTTCGAGTGCTGGCA c.960
N Y W R G F F A A T F S A F V F R V L A p.320
. | 09 . . . . g.20147
GTGTGGAACAAGGATGCTG | TCACCATCACTGCTCTGTTCAGAACCAATTTCCGAATGGAT c.1020
V W N K D A V | T I T A L F R T N F R M D p.340
. . . . | 10 . . g.20441
TTCCCCTTTGACCTGAAGGAACTACCAGCTTTTGCTGCCATCGG | GATTTGCTGTGGGCTC c.1080
F P F D L K E L P A F A A I G | I C C G L p.360
. . . . . . g.20501
CTGGGAGCTGTATTTGTGTATCTGCATCGCCAAGTCATGCTCGGTGTCCGAAAGCACAAG c.1140
L G A V F V Y L H R Q V M L G V R K H K p.380
. . | 11 . . . . g.21327
GCCCTCAGCCAGTTTCTTGCTAAGCA | CCGCCTGCTGTATCCTGGAATTGTTACCTTTGTC c.1200
A L S Q F L A K H | R L L Y P G I V T F V p.400
. . . . . | 12 . g.21607
ATTGCCTCATTCACCTTCCCACCAGGAATGGGTCAATTCATGGCTGGAGAG | TTGATGCCC c.1260
I A S F T F P P G M G Q F M A G E | L M P p.420
. . . . . . g.21667
CGCGAAGCCATCAGTACTTTGTTTGACAACAATACATGGGTGAAACACGCGGGTGATCCT c.1320
R E A I S T L F D N N T W V K H A G D P p.440
. . . . . . g.21727
GAGAGCCTGGGCCAGTCAGCTGTGTGGATTCACCCCCGGGTCAACGTTGTCATCATCATC c.1380
E S L G Q S A V W I H P R V N V V I I I p.460
. . | 13 . . . . g.28166
TTTCTCTTCTTCGTCATGAAG | TTCTGGATGTCCATCGTGGCCACCACTATGCCCATACCC c.1440
F L F F V M K | F W M S I V A T T M P I P p.480
. . . | 14 . . . g.28414
TGCGGAGGCTTCATGCCTGTGTTTGTGCTAG | GAGCTGCATTTGGAAGGCTGGTAGGAGAA c.1500
C G G F M P V F V L G | A A F G R L V G E p.500
. . . . . . g.28474
ATCATGGCCATGCTCTTTCCTGATGGTATTTTGTTTGATGACATCATCTACAAGATCCTA c.1560
I M A M L F P D G I L F D D I I Y K I L p.520
. . | 15 . . . . g.30841
CCTGGGGGCTATGCAGTAATTG | GAGCAGCAGCGCTGACTGGTGCCGTTTCCCACACAGTC c.1620
P G G Y A V I G | A A A L T G A V S H T V p.540
. . . . . . g.30901
TCCACAGCTGTGATTTGCTTCGAATTAACGGGTCAGATTGCTCACATCCTGCCCATGATG c.1680
S T A V I C F E L T G Q I A H I L P M M p.560
. . . . . . g.30961
GTGGCTGTTATCTTGGCCAACATGGTGGCCCAGAGCCTGCAGCCCTCTCTCTATGACAGC c.1740
V A V I L A N M V A Q S L Q P S L Y D S p.580
. . . . . | 16 . g.31250
ATCATCCAGGTCAAGAAGCTACCCTACTTGCCTGACCTTGGCTGGAACCAGCTCAG | CAAA c.1800
I I Q V K K L P Y L P D L G W N Q L S | K p.600
. . . . . . g.31310
TATACCATCTTTGTTGAGGACATCATGGTACGTGATGTGAAGTTTGTTTCAGCTTCTTAC c.1860
Y T I F V E D I M V R D V K F V S A S Y p.620
. . . . . . g.31370
ACATATGGGGAGTTGCGAACCCTGCTCCAGACCACCACAGTCAAGACTTTACCACTGGTT c.1920
T Y G E L R T L L Q T T T V K T L P L V p.640
. | 17 . . . . . g.34445
GACTCAAAAG | ATTCAATGATCCTGCTGGGCTCGGTGGAGCGGTCGGAACTGCAGGCCCTC c.1980
D S K D | S M I L L G S V E R S E L Q A L p.660
. . . . . . g.34505
CTGCAGCGCCACCTGTGTCCTGAGCGCAGGCTGCGCGCAGCCCAAGAGATGGCGCGGAAG c.2040
L Q R H L C P E R R L R A A Q E M A R K p.680
. . . . . . g.34565
TTGTCGGAGCTGCCTTACGACGGGAAGGCGCGGCTGGCTGGGGAGGGGCTCCCCGGCGCG c.2100
L S E L P Y D G K A R L A G E G L P G A p.700
. . . . . . g.34625
CCTCCAGGCCGGCCCGAGTCCTTCGCCTTTGTGGATGAGGATGAGGACGAAGACCTCTCT c.2160
P P G R P E S F A F V D E D E D E D L S p.720
. | 18 . . . . . g.35062
GGCAAGAGCGAG | CTTCCTCCTTCCCTTGCTCTCCACCCCTCTACTACTGCCCCTCTGTCC c.2220
G K S E | L P P S L A L H P S T T A P L S p.740
. . . . . . g.35122
CCAGAAGAGCCCAATGGGCCTCTGCCTGGCCACAAACAGCAGCCGGAAGCACCAGAGCCT c.2280
P E E P N G P L P G H K Q Q P E A P E P p.760
| 19 . . . . . . g.35509
GCAG | GTCAAAGACCCTCCATCTTCCAGTCCCTGCTTCACTGCTTGCTGGGCAGAGCTCGC c.2340
A G | Q R P S I F Q S L L H C L L G R A R p.780
. . | 20 . . . . g.35821
CCCACAAAGAAGAAAACAACCCAG | GATTCCACAGATTTAGTGGATAACATGTCACCTGAA c.2400
P T K K K T T Q | D S T D L V D N M S P E p.800
| 21 . . . . . . g.39303
GAG | ATTGAGGCCTGGGAGCAGGAGCAGCTGAGCCAGCCTGTCTGTTTTGATTCCTGCTGT c.2460
E | I E A W E Q E Q L S Q P V C F D S C C p.820
. . . . | 22 . g.39454
ATTGACCAGTCTCCCTTCCAGCTGGTGGAGCAGACAACCCTGCACAAG | ACTCATACCCTG c.2520
I D Q S P F Q L V E Q T T L H K | T H T L p.840
. . . . . . g.39514
TTTTCACTCCTTGGCCTCCACCTCGCTTACGTGACCAGCATGGGGAAGCTCAGGGGCGTC c.2580
F S L L G L H L A Y V T S M G K L R G V p.860
. | 23 . . . . . g.40513
CTGGCCCTGGAGGAG | CTACAGAAGGCCATTGAGGGGCACACCAAGTCTGGGGTGCAGCTC c.2640
L A L E E | L Q K A I E G H T K S G V Q L p.880
. . . . . . g.40573
CGCCCTCCCCTTGCCAGCTTCCGGAACACGACTTCAACTCGAAAGAGTACCGGGGCACCT c.2700
R P P L A S F R N T T S T R K S T G A P p.900
. . . . . . g.40633
CCATCTTCTGCAGAGAACTGGAACCTGCCTGAGGACAGGCCTGGGGCCACTGGAACAGGG c.2760
P S S A E N W N L P E D R P G A T G T G p.920
. . . . . . g.40693
GATGTGATTGCTGCCTCCCCAGAGACCCCTGTGCCATCTCCTTCCCCAGAGCCCCCTCTC c.2820
D V I A A S P E T P V P S P S P E P P L p.940
. . . . . . g.40753
TCCCTGGCCCCAGGCAAGGTAGAGGGCGAGTTGGAGGAGCTGGAGCTGGTGGAGAGTCCA c.2880
S L A P G K V E G E L E E L E L V E S P p.960
. . . . . . g.40813
GGGCTGGAAGAGGAGCTGGCCGACATCTTGCAGGGCCCCAGCCTGCGATCCACAGACGAG c.2940
G L E E E L A D I L Q G P S L R S T D E p.980
. . g.40840
GAGGATGAGGATGAACTGATCCTTTGA c.2967
E D E D E L I L X p.988
. . . g.40879
ccccctcccacgacctcctcataaagaccgtggagaggc c.*39
(downstream sequence)
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