(used for variant description)
(last modified March 10, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_030582.3 in the COL18A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011903.1, covering COL18A1 transcript NM_030582.3.
(upstream sequence)
. . g.55348
agctccagccgcactgccccg c.-1
. . . . . . g.55408
ATGGCTCCCTACCCCTGTGGCTGCCACATCCTGCTGCTGCTCTTCTGCTGCCTGGCGGCT c.60
M A P Y P C G C H I L L L L F C C L A A p.20
. . . . . . g.55468
GCCCGGGCCAACCTGCTGAACCTGAACTGGCTTTGGTTCAATAATGAGGACACCAGCCAT c.120
A R A N L L N L N W L W F N N E D T S H p.40
. . . . . . g.55528
GCAGCTACCACGATCCCTGAGCCCCAGGGGCCCCTGCCTGTGCAGCCCACAGCAGATACC c.180
A A T T I P E P Q G P L P V Q P T A D T p.60
. . . . . . g.55588
ACCACACACGTGACCCCCCGGAATGGTTCCACAGAGCCAGCGACAGCCCCTGGCAGCCCT c.240
T T H V T P R N G S T E P A T A P G S P p.80
. . . . . . g.55648
GAGCCACCCTCAGAGCTGCTGGAAGATGGCCAGGACACCCCCACTTCTGCCGAGAGCCCG c.300
E P P S E L L E D G Q D T P T S A E S P p.100
. . . . . . g.55708
GACGCGCCAGAGGAGAACATTGCCGGTGTCGGAGCCGAGATCCTGAACGTGGCCAAAGGC c.360
D A P E E N I A G V G A E I L N V A K G p.120
. . . . . . g.55768
ATCCGGAGCTTCGTCCAGCTGTGGAATGACACTGTCCCCACTGAGAGCTTGGCCAGGGCG c.420
I R S F V Q L W N D T V P T E S L A R A p.140
. . . . . . g.55828
GAAACCCTGGTCCTGGAGACTCCTGTGGGCCCCCTTGCCCTCGCTGGGCCTTCCAGCACC c.480
E T L V L E T P V G P L A L A G P S S T p.160
. . . . . . g.55888
CCCCAGGAGAATGGGACCACTCTCTGGCCCAGCCGTGGCATTCCTAGCTCTCCGGGCGCC c.540
P Q E N G T T L W P S R G I P S S P G A p.180
. . . . . . g.55948
CACACAACCGAGGCTGGCACCTTGCCTGCACCCACCCCATCGCCTCCCTCCCTGGGCAGG c.600
H T T E A G T L P A P T P S P P S L G R p.200
. . . . | 02 . . g.68073
CCCTGGGCACCACTCACGGGGCCCTCAGTGCCACCACCATCTTCAG | AGCGCATCAGCGAG c.660
P W A P L T G P S V P P P S S E | R I S E p.220
. . . . . . g.68133
GAGGTGGGGCTGCTGCAGCTCCTTGGGGACCCCCCGCCCCAGCAGGTCACCCAGACGGAT c.720
E V G L L Q L L G D P P P Q Q V T Q T D p.240
. . . . . . g.68193
GACCCCGACGTCGGGCTGGCCTACGTCTTTGGGCCAGATGCCAACAGTGGCCAAGTGGCC c.780
D P D V G L A Y V F G P D A N S G Q V A p.260
. . . . . . g.68253
CGGTACCACTTCCCCAGCCTCTTCTTCCGTGACTTCTCACTGCTGTTCCACATCCGGCCA c.840
R Y H F P S L F F R D F S L L F H I R P p.280
. . . . . . g.68313
GCCACAGAGGGCCCAGGGGTGCTGTTCGCCATCACGGACTCGGCGCAGGCCATGGTCTTG c.900
A T E G P G V L F A I T D S A Q A M V L p.300
. . . . . . g.68373
CTGGGCGTGAAGCTCTCTGGGGTGCAGGACGGGCACCAGGACATCTCCCTGCTCTACACA c.960
L G V K L S G V Q D G H Q D I S L L Y T p.320
. . . . . . g.68433
GAACCAGGTGCAGGCCAGACCCACACAGCCGCCAGCTTCCGGCTCCCCGCCTTCGTCGGC c.1020
E P G A G Q T H T A A S F R L P A F V G p.340
. . . . . . g.68493
CAGTGGACACACTTAGCCCTCAGTGTGGCAGGTGGCTTTGTGGCCCTCTACGTGGACTGT c.1080
Q W T H L A L S V A G G F V A L Y V D C p.360
. . . . . . g.68553
GAGGAGTTCCAGAGAATGCCGCTTGCTCGGTCCTCACGGGGCCTGGAGCTGGAGCCTGGC c.1140
E E F Q R M P L A R S S R G L E L E P G p.380
. . . . . | 03 . g.73721
GCCGGGCTCTTCGTGGCTCAGGCGGGGGGAGCGGACCCTGACAAGTTCCAG | GGGGTGATC c.1200
A G L F V A Q A G G A D P D K F Q | G V I p.400
. . . . . . g.73781
GCTGAGCTGAAGGTGCGCAGGGACCCCCAGGTGAGCCCCATGCACTGCCTGGACGAGGAA c.1260
A E L K V R R D P Q V S P M H C L D E E p.420
. | 04 . . . . g.75335
GGCGATGACTCAGATGGG | GCATCCGGAGACTCTGGCAGCGGGCTCGGGGACGCCCGGGAG c.1320
G D D S D G | A S G D S G S G L G D A R E p.440
. | 05 . . . . g.76210
CTTCTCAGGGAGGAGACG | GGCGCGGCCCTAAAACCCAGGCTCCCCGCGCCACCCCCCGTC c.1380
L L R E E T | G A A L K P R L P A P P P V p.460
. . . . . . g.76270
ACCACGCCACCCTTGGCTGGAGGCAGCAGCACGGAAGATTCCAGAAGTGAAGAAGTCGAG c.1440
T T P P L A G G S S T E D S R S E E V E p.480
. . | 06 . . . g.77260
GAGCAGACCACGGTGGCTTCGTTAGGAG | CTCAGACACTTCCTGGCTCAGATTCTGTCTCC c.1500
E Q T T V A S L G A | Q T L P G S D S V S p.500
. . . . | 07 . . g.77582
ACGTGGGACGGGAGTGTCCGGACCCCTGGGGGCCGCGTGAAAGAG | GGCGGCCTGAAGGGG c.1560
T W D G S V R T P G G R V K E | G G L K G p.520
. . . . . . g.77642
CAGAAAGGGGAGCCAGGTGTTCCGGGCCCACCTGGCCGGGCAGGCCCCCCAGGATCCCCA c.1620
Q K G E P G V P G P P G R A G P P G S P p.540
. . . . . . g.77702
TGCCTACCTGGTCCCCCGGGTCTCCCGTGCCCAGTGAGTCCCCTGGGTCCTGCAGGCCCA c.1680
C L P G P P G L P C P V S P L G P A G P p.560
. . . . . . g.77762
GCGTTGCAAACTGTCCCCGGACCACAAGGACCCCCAGGGCCTCCGGGGAGGGACGGCACC c.1740
A L Q T V P G P Q G P P G P P G R D G T p.580
. . | 08 . . | 09 . g.79731
CCTGGAAGGGACGGCGAGCCG | GGCGACCCCGGTGAAGACGGAAAGCCG | GGCGACACCGGG c.1800
P G R D G E P | G D P G E D G K P | G D T G p.600
. . . . . | 10 . g.79896
CCACAAGGCTTCCCCGGGACTCCAGGGGACGTAGGTCCCAAGGGCGACAAG | GGAGACCCT c.1860
P Q G F P G T P G D V G P K G D K | G D P p.620
. . . . . . g.79956
GGGGTTGGAGAGAGAGGGCCCCCAGGACCCCAAGGGCCTCCAGGGCCCCCAGGACCCTCC c.1920
G V G E R G P P G P Q G P P G P P G P S p.640
. | 11 . . . . g.80326
TTCAGACACGACAAGCTG | ACCTTCATTGACATGGAGGGATCTGGCTTCGGGGGCGATCTG c.1980
F R H D K L | T F I D M E G S G F G G D L p.660
. | 12 . . . . . g.80565
GAGGCCCTGCGG | GGTCCTCGAGGCTTCCCTGGACCTCCCGGACCCCCCGGTGTCCCAGGC c.2040
E A L R | G P R G F P G P P G P P G V P G p.680
. . . . . . g.80625
CTGCCCGGCGAGCCAGGCCGCTTTGGGGTGAACAGCTCCGACGTCCCAGGACCCGCCGGC c.2100
L P G E P G R F G V N S S D V P G P A G p.700
. . . . . | 13 . g.81789
CTTCCTGGTGTGCCTGGGCGCGAGGGTCCCCCCGGGTTTCCTGGCCTCCCG | GGACCCCCA c.2160
L P G V P G R E G P P G F P G L P | G P P p.720
. . . . . | 14 . g.82618
GGCCCTCCGGGAAGAGAGGGGCCCCCAGGAAGGACTGGGCAGAAAGGCAGCCTG | GGTGAA c.2220
G P P G R E G P P G R T G Q K G S L | G E p.740
. . | 15 . . . . g.86717
GCAGGCGCCCCAGGACATAAG | GGGAGCAAGGGAGCCCCCGGTCCTGCTGGTGCTCGTGGG c.2280
A G A P G H K | G S K G A P G P A G A R G p.760
. . . . . . g.86777
GAGAGCGGCCTGGCAGGAGCCCCCGGACCTGCTGGACCACCAGGCCCCCCTGGGCCCCCT c.2340
E S G L A G A P G P A G P P G P P G P P p.780
. . . | 16 . . . g.87291
GGGCCCCCAGGACCAGGACTCCCCGCTGGATTT | GATGACATGGAAGGCTCCGGGGGGCCC c.2400
G P P G P G L P A G F | D D M E G S G G P p.800
. . . | 17 . . . g.88259
TTCTGGTCAACAGCCCGAAGCGCTGATGGGCCACAG | GGACCTCCCGGCCTGCCGGGACTT c.2460
F W S T A R S A D G P Q | G P P G L P G L p.820
| 18 . . . | 19 . . g.90113
AAG | GGGGATCCTGGCGTGCCTGGGCTGCCGGGGGCGAAG | GGAGAAGTTGGAGCAGATGGA c.2520
K | G D P G V P G L P G A K | G E V G A D G p.840
. . . . . | 20 . g.90662
GTCCCCGGGTTCCCCGGCCTCCCTGGCAGAGAGGGCATTGCTGGGCCCCAG | GGGCCAAAG c.2580
V P G F P G L P G R E G I A G P Q | G P K p.860
. . | 21. . . . g.91075
GGAGACAGAGGCAGCCGGGGAGAAAAG | GGAGATCCAGGGAAGGACGGAGTCGGGCAGCCG c.2640
G D R G S R G E K | G D P G K D G V G Q P p.880
. . . . . | 22. g.92355
GGCCTCCCTGGCCCCCCCGGACCCCCGGGACCTGTGGTCTACGTGTCGGAGCAGGAC | GGA c.2700
G L P G P P G P P G P V V Y V S E Q D | G p.900
. . | 23. . . | 24 . g.92986
TCCGTCCTGAGCGTGCCGGGACCTGAG | GGCCGGCCGGGTTTCGCAGGCTTTCCC | GGACCT c.2760
S V L S V P G P E | G R P G F A G F P | G P p.920
. . . . . | 25. g.93321
GCAGGACCCAAGGGCAACCTGGGCTCTAAGGGCGAACGAGGCTCCCCGGGACCCAAG | GGT c.2820
A G P K G N L G S K G E R G S P G P K | G p.940
. . . . . . g.93381
GAGAAGGGTGAACCGGGCAGCATCTTCAGCCCCGACGGCGGTGCCCTGGGCCCTGCCCAG c.2880
E K G E P G S I F S P D G G A L G P A Q p.960
. | 26 . . | 27 . . g.94700
AAAGGAGCCAAG | GGAGAGCCGGGCTTCCGAGGACCCCCG | GGTCCATACGGACGGCCGGGG c.2940
K G A K | G E P G F R G P P | G P Y G R P G p.980
. . . | 28 . . . g.95202
TACAAGGGAGAGATTGGCTTTCCTGGACGGCCG | GGTCGCCCCGGGATGAACGGATTGAAA c.3000
Y K G E I G F P G R P | G R P G M N G L K p.1000
. . . . | 29 . g.96329
GGAGAGAAAGGGGAGCCGGGAGATGCCAGCCTTGGATTTGGCATGAGG | GGAATGCCCGGC c.3060
G E K G E P G D A S L G F G M R | G M P G p.1020
. . . . . | 30. g.96870
CCCCCAGGACCTCCAGGGCCCCCAGGCCCTCCAGGGACTCCTGTTTACGACAGCAAT | GTG c.3120
P P G P P G P P G P P G T P V Y D S N | V p.1040
. . . . | 31 . . g.97436
TTTGCTGAGTCCAGCCGCCCCGGGCCTCCAGGATTGCCAG | GGAATCAGGGCCCTCCAGGA c.3180
F A E S S R P G P P G L P G | N Q G P P G p.1060
. . . . | 32 . . g.103845
CCCAAGGGCGCCAAAGGAGAAGTGGGCCCCCCCGGACCACCAG | GGCAGTTTCCGTTTGAC c.3240
P K G A K G E V G P P G P P G | Q F P F D p.1080
. . | 33. . . . g.104266
TTTCTTCAGTTGGAGGCTGAAATGAAG | GGGGAGAAGGGAGACCGAGGTGATGCAGGACAG c.3300
F L Q L E A E M K | G E K G D R G D A G Q p.1100
. . . . . . g.104326
AAAGGCGAAAGGGGGGAGCCCGGGGGCGGCGGTTTCTTCGGCTCCAGCCTGCCCGGCCCC c.3360
K G E R G E P G G G G F F G S S L P G P p.1120
. . . | 34 . . g.104963
CCCGGCCCCCCAGGCCCACGTGGCTACCCTGGGATTCCA | GGTCCCAAGGGAGAGAGCATC c.3420
P G P P G P R G Y P G I P | G P K G E S I p.1140
. . . . . . g.105023
CGGGGCCAGCCCGGCCCACCTGGACCTCAGGGACCCCCCGGCATCGGCTACGAGGGGCGC c.3480
R G Q P G P P G P Q G P P G I G Y E G R p.1160
. . . . . . g.105083
CAGGGCCCTCCCGGCCCCCCAGGCCCCCCAGGGCCCCCTTCATTTCCTGGCCCTCACAGG c.3540
Q G P P G P P G P P G P P S F P G P H R p.1180
| 35 . . . . . . g.105222
CAGA | CTATCAGCGTTCCCGGCCCTCCGGGCCCCCCTGGGCCCCCTGGGCCCCCTGGAACC c.3600
Q T | I S V P G P P G P P G P P G P P G T p.1200
. | 36 . . . . g.105688
ATGGGCGCCTCCTCAGGG | GTGAGGCTCTGGGCTACACGCCAGGCCATGCTGGGCCAGGTG c.3660
M G A S S G | V R L W A T R Q A M L G Q V p.1220
. . . . . . g.105748
CACGAGGTTCCCGAGGGCTGGCTCATCTTCGTGGCCGAGCAGGAGGAGCTCTACGTCCGC c.3720
H E V P E G W L I F V A E Q E E L Y V R p.1240
. . | 37. . . . g.107402
GTGCAGAACGGGTTCCGGAAGGTCCAG | CTGGAGGCCCGGACACCACTCCCACGAGGGACG c.3780
V Q N G F R K V Q | L E A R T P L P R G T p.1260
| 38 . . . . . . g.109224
| GACAATGAAGTGGCCGCCTTGCAGCCCCCCGTGGTGCAGCTGCACGACAGCAACCCCTAC c.3840
| D N E V A A L Q P P V V Q L H D S N P Y p.1280
. . . . . . g.109284
CCGCGGCGGGAGCACCCCCACCCCACCGCGCGGCCCTGGCGGGCAGATGACATCCTGGCC c.3900
P R R E H P H P T A R P W R A D D I L A p.1300
. . . . . . g.109344
AGCCCCCCTCGCCTGCCCGAGCCCCAGCCCTACCCCGGAGCCCCGCACCACAGCTCCTAC c.3960
S P P R L P E P Q P Y P G A P H H S S Y p.1320
. . . . . . g.109404
GTGCACCTGCGGCCGGCGCGACCCACAAGCCCACCCGCCCACAGCCACCGCGACTTCCAG c.4020
V H L R P A R P T S P P A H S H R D F Q p.1340
| 39 . . . . . . g.109926
CCGGTG | CTCCACCTGGTTGCGCTCAACAGCCCCCTGTCAGGCGGCATGCGGGGCATCCGC c.4080
P V | L H L V A L N S P L S G G M R G I R p.1360
. . . . . . g.109986
GGGGCCGACTTCCAGTGCTTCCAGCAGGCGCGGGCCGTGGGGCTGGCGGGCACCTTCCGC c.4140
G A D F Q C F Q Q A R A V G L A G T F R p.1380
. . . . . . g.110046
GCCTTCCTGTCCTCGCGCCTGCAGGACCTGTACAGCATCGTGCGCCGTGCCGACCGCGCA c.4200
A F L S S R L Q D L Y S I V R R A D R A p.1400
. . | 40 . . . . g.110955
GCCGTGCCCATCGTCAACCTCAAG | GACGAGCTGCTGTTTCCCAGCTGGGAGGCTCTGTTC c.4260
A V P I V N L K | D E L L F P S W E A L F p.1420
. . . . . . g.111015
TCAGGCTCTGAGGGTCCGCTGAAGCCCGGGGCACGCATCTTCTCCTTTGACGGCAAGGAC c.4320
S G S E G P L K P G A R I F S F D G K D p.1440
. . | 41 . . . . g.112036
GTCCTGAGGCACCCCACCTG | GCCCCAGAAGAGCGTGTGGCATGGCTCGGACCCCAACGGG c.4380
V L R H P T W | P Q K S V W H G S D P N G p.1460
. . . . . . g.112096
CGCAGGCTGACCGAGAGCTACTGTGAGACGTGGCGGACGGAGGCTCCCTCGGCCACGGGC c.4440
R R L T E S Y C E T W R T E A P S A T G p.1480
. . . . . . g.112156
CAGGCCTCCTCGCTGCTGGGGGGCAGGCTCCTGGGGCAGAGTGCCGCGAGCTGCCATCAC c.4500
Q A S S L L G G R L L G Q S A A S C H H p.1500
. . . . . g.112207
GCCTACATCGTGCTCTGCATTGAGAACAGCTTCATGACTGCCTCCAAGTAG c.4551
A Y I V L C I E N S F M T A S K X p.1516
. . . . . . g.112267
ccaccgcctggatgcggatggccggagaggaccggcggctcggaggaagcccccaccgtg c.*60
. . . . . . g.112327
ggcagggagcggccggccagcccctggccccaggacctggctgccatactttcctgtata c.*120
. . . . . . g.112387
gttcacgtttcatgtaatcctcaagaaataaaaggaagccaaagagtgtatttttttaaa c.*180
. . . . . . g.112447
agtttaaaacagaagcctgatgctgacattcacctgccccaactctcccctgacctgtga c.*240
. . . . . . g.112507
gcccagctgggtcaggcagggtgcagtatcatgccctgtgcaacctcttggcctgatcag c.*300
. . . . . . g.112567
accacggctcgatttctccaggatttcctgctttgggaagccgtgctcgccccagcaggt c.*360
. . . . . . g.112627
gctgacttcatctcccacctagcagcaccgttctgtgcacaaaacccagacctgttagca c.*420
. . . . . . g.112687
gacaggccccgtgaggcaatgggagctgaggccacactcagcacaaggccatctgggctc c.*480
. . . . . . g.112747
ctccagggtgtgtgctcgccctgcggtagatgggagggaggctcaggtccctggggctag c.*540
. . . . . . g.112807
ggggagccccttctgctcagctctgggccattctccacagcaaccccaggctgaagcagg c.*600
. . . . . . g.112867
ttcccaagctcagaggcgcactgtgacccccagctccggcctgtcctccaacaccaagca c.*660
. . . . . . g.112927
cagcagcctggggctggcctcccaaatgagccatgagatgatacatccaaagcagacagc c.*720
. . . . . . g.112987
tccaccctggccgagtccaagctgggagattcaagggacccatgagttggggtctggcag c.*780
. . . . . . g.113047
cctcccatccagggcccccatctcatgcccctggctgggacgtggctcagccagcacttg c.*840
. . . . . . g.113107
tccagctgagcgccaggatggaacacggccacatcaaagaggctgaggctggcacaggac c.*900
. . . . . . g.113167
atgcggtagccagcacacagggcagtgagggagggctgtcatctgtgcactgcccatgga c.*960
. . . . . . g.113227
caggctggctccagatgcagggcagtcattggctgtctcctaggaaacccatatccttac c.*1020
. . . . . . g.113287
cctccttgggactgaaggggaaccccggggtgcccacaggccgccctgcgggtgaacaaa c.*1080
. . . . . . g.113347
gcagccacgaggtgcaacaaggtcctctgtcagtcacagccacccctgagatccggcaac c.*1140
. . . . . . g.113407
atcaacccgagtcattcgttctgtggagggacaagtggactcagggcagcgccaggctga c.*1200
. . . . . . g.113467
ccacagcacagccaacacgcacctgcctcaggactgcgacgaaaccggtggggctggttc c.*1260
. . . . . . g.113527
tgtaattgtgtgtgatgtgaagccaattcagacaggcaaataaaagtgaccttttacact c.*1320
g.113529
ga c.*1322
(downstream sequence)
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