(used for variant description)
(last modified October 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000095.2 in the COMP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007070.1, covering COMP transcript NM_000095.2.
(upstream sequence)
. . . g.5036
agaaagcgagcagccacccagctccccgccaccgcc c.-1
. . . . . . g.5096
ATGGTCCCCGACACCGCCTGCGTTCTTCTGCTCACCCTGGCTGCCCTCGGCGCGTCCGGA c.60
M V P D T A C V L L L T L A A L G A S G p.20
. | 02 . . . . g.5411
CAGGGCCAGAGCCCGTTGG | GCTCAGACCTGGGCCCGCAGATGCTTCGGGAACTGCAGGAA c.120
Q G Q S P L G | S D L G P Q M L R E L Q E p.40
. . . . | 03 . . g.5707
ACCAACGCGGCGCTGCAGGACGTGCGGGAGCTGCTGCGGCAGCAG | GTCAGGGAGATCACG c.180
T N A A L Q D V R E L L R Q Q | V R E I T p.60
. . . | 04. . . g.6214
TTCCTGAAAAACACGGTGATGGAGTGTGACGCGTGCG | GGATGCAGCAGTCAGTACGCACC c.240
F L K N T V M E C D A C G | M Q Q S V R T p.80
. . . . . . g.6274
GGCCTACCCAGCGTGCGGCCCCTGCTCCACTGCGCGCCCGGCTTCTGCTTCCCCGGCGTG c.300
G L P S V R P L L H C A P G F C F P G V p.100
. . . . . . g.6334
GCCTGCATCCAGACGGAGAGCGGCGCGCGCTGCGGCCCCTGCCCCGCGGGCTTCACGGGC c.360
A C I Q T E S G A R C G P C P A G F T G p.120
. . . | 05 . . . g.7038
AACGGCTCGCACTGCACCGACGTCAACGAG | TGCAACGCCCACCCCTGCTTCCCCCGAGTC c.420
N G S H C T D V N E | C N A H P C F P R V p.140
. . . . . . g.7098
CGCTGTATCAACACCAGCCCGGGGTTCCGCTGCGAGGCTTGCCCGCCGGGGTACAGCGGC c.480
R C I N T S P G F R C E A C P P G Y S G p.160
. . . . | 06 . g.7404
CCCACCCACCAGGGCGTGGGGCTGGCTTTCGCCAAGGCCAACAAGCAG | GTTTGCACGGAC c.540
P T H Q G V G L A F A K A N K Q | V C T D p.180
. . . . . . g.7464
ATCAACGAGTGTGAGACCGGGCAACATAACTGCGTCCCCAACTCCGTGTGCATCAACACC c.600
I N E C E T G Q H N C V P N S V C I N T p.200
| 07 . . . . . . g.7612
CGG | GGCTCCTTCCAGTGCGGCCCGTGCCAGCCCGGCTTCGTGGGCGACCAGGCGTCCGGC c.660
R | G S F Q C G P C Q P G F V G D Q A S G p.220
. . . . . . g.7672
TGCCAGCGGCGCGCACAGCGCTTCTGCCCCGACGGCTCGCCCAGCGAGTGCCACGAGCAT c.720
C Q R R A Q R F C P D G S P S E C H E H p.240
. . . . | 08 . . g.7809
GCAGACTGCGTCCTAGAGCGCGATGGCTCGCGGTCGTGCGTG | TGTGCCGTTGGCTGGGCC c.780
A D C V L E R D G S R S C V | C A V G W A p.260
. . . . . . g.7869
GGCAACGGGATCCTCTGTGGTCGCGACACTGACCTAGACGGCTTCCCGGACGAGAAGCTG c.840
G N G I L C G R D T D L D G F P D E K L p.280
. . | 09. . . . g.8019
CGCTGCCCGGAGCGCCAGTGCCGTAAG | GACAACTGCGTGACTGTGCCCAACTCAGGGCAG c.900
R C P E R Q C R K | D N C V T V P N S G Q p.300
. . . . . . g.8079
GAGGATGTGGACCGCGATGGCATCGGAGACGCCTGCGATCCGGATGCCGACGGGGACGGG c.960
E D V D R D G I G D A C D P D A D G D G p.320
. | 10 . . . . . g.8700
GTCCCCAATGAAAAG | GACAACTGCCCGCTGGTGCGGAACCCAGACCAGCGCAACACGGAC c.1020
V P N E K | D N C P L V R N P D Q R N T D p.340
. . . . . . g.8760
GAGGACAAGTGGGGCGATGCGTGCGACAACTGCCGGTCCCAGAAGAACGACGACCAAAAG c.1080
E D K W G D A C D N C R S Q K N D D Q K p.360
. . . . . | 11 . g.9659
GACACAGACCAGGACGGCCGGGGCGATGCGTGCGACGACGACATCGACGGCGACC | GGATC c.1140
D T D Q D G R G D A C D D D I D G D R | I p.380
. . . . . . g.9719
CGCAACCAGGCCGACAACTGCCCTAGGGTACCCAACTCAGACCAGAAGGACAGTGATGGC c.1200
R N Q A D N C P R V P N S D Q K D S D G p.400
. . . . . | 12 . g.10019
GATGGTATAGGGGATGCCTGTGACAACTGTCCCCAGAAGAGCAACCCGGATCAG | GCGGAT c.1260
D G I G D A C D N C P Q K S N P D Q | A D p.420
. . . . | 13. . g.10171
GTGGACCACGACTTTGTGGGAGATGCTTGTGACAGCGATCAAGACCA | GGATGGAGACGGA c.1320
V D H D F V G D A C D S D Q D Q | D G D G p.440
. . . . . . g.10231
CATCAGGACTCTCGGGACAACTGTCCCACGGTGCCTAACAGTGCCCAGGAGGACTCAGAC c.1380
H Q D S R D N C P T V P N S A Q E D S D p.460
. . . . . . g.10291
CACGATGGCCAGGGTGATGCCTGCGACGACGACGACGACAATGACGGAGTCCCTGACAGT c.1440
H D G Q G D A C D D D D D N D G V P D S p.480
. . . . | 14 . g.10464
CGGGACAACTGCCGCCTGGTGCCTAACCCCGGCCAGGAGGACGCGGACA | GGGACGGCGTG c.1500
R D N C R L V P N P G Q E D A D R | D G V p.500
. . . . . . g.10524
GGCGACGTGTGCCAGGACGACTTTGATGCAGACAAGGTGGTAGACAAGATCGACGTGTGT c.1560
G D V C Q D D F D A D K V V D K I D V C p.520
. . . . . . g.10584
CCGGAGAACGCTGAAGTCACGCTCACCGACTTCAGGGCCTTCCAGACAGTCGTGCTGGAC c.1620
P E N A E V T L T D F R A F Q T V V L D p.540
. . . . | 15 . g.10770
CCGGAGGGTGACGCGCAGATTGACCCCAACTGGGTGGTGCTCAACCAG | GGAAGGGAGATC c.1680
P E G D A Q I D P N W V V L N Q | G R E I p.560
. . . | 16. . . g.11235
GTGCAGACAATGAACAGCGACCCAGGCCTGGCTGTGG | GTTACACTGCCTTCAATGGCGTG c.1740
V Q T M N S D P G L A V G | Y T A F N G V p.580
. . . . . . g.11295
GACTTCGAGGGCACGTTCCATGTGAACACGGTCACGGATGACGACTATGCGGGCTTCATC c.1800
D F E G T F H V N T V T D D D Y A G F I p.600
. . . . . . g.11355
TTTGGCTACCAGGACAGCTCCAGCTTCTACGTGGTCATGTGGAAGCAGATGGAGCAAACG c.1860
F G Y Q D S S S F Y V V M W K Q M E Q T p.620
. . . . . | 17 . g.11947
TATTGGCAGGCGAACCCCTTCCGTGCTGTGGCCGAGCCTGGCATCCAACTCAAG | GCTGTG c.1920
Y W Q A N P F R A V A E P G I Q L K | A V p.640
. . . . . . g.12007
AAGTCTTCCACAGGCCCCGGGGAACAGCTGCGGAACGCTCTGTGGCATACAGGAGACACA c.1980
K S S T G P G E Q L R N A L W H T G D T p.660
. . . . . . g.12067
GAGTCCCAGGTGCGGCTGCTGTGGAAGGACCCGCGAAACGTGGGTTGGAAGGACAAGAAG c.2040
E S Q V R L L W K D P R N V G W K D K K p.680
. . . . | 18. . g.13124
TCCTATCGTTGGTTCCTGCAGCACCGGCCCCAAGTGGGCTACATCAG | GGTGCGATTCTAT c.2100
S Y R W F L Q H R P Q V G Y I R | V R F Y p.700
. . . . . . g.13184
GAGGGCCCTGAGCTGGTGGCCGACAGCAACGTGGTCTTGGACACAACCATGCGGGGTGGC c.2160
E G P E L V A D S N V V L D T T M R G G p.720
. . . . . . g.13244
CGCCTGGGGGTCTTCTGCTTCTCCCAGGAGAACATCATCTGGGCCAACCTGCGTTACCGC c.2220
R L G V F C F S Q E N I I W A N L R Y R p.740
| 19. . . . . g.13396
TGCAATG | ACACCATCCCAGAGGACTATGAGACCCATCAGCTGCGGCAAGCCTAG c.2274
C N D | T I P E D Y E T H Q L R Q A X p.757
. . . . . . g.13456
ggaccagggtgaggacccgccggatgacagccaccctcaccgcggctggatgggggctct c.*60
. . . . . . g.13516
gcacccagccccaaggggtggccgtcctgagggggaagtgagaagggctcagagaggaca c.*120
. . g.13538
aaataaagtgtgtgtgcaggga c.*142
(downstream sequence)
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