(used for variant description)
(last modified December 1, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_025233.6 in the COASY gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering COASY transcript NM_025233.6.
(upstream sequence)
g.5009
agaatcccg c.-541
. . . . . . g.5069
cgctgaagcgaagtcgagacgtttgaccttcctccgtttccgtagttccgagttgcggtt c.-481
. . . . . . g.5129
tctccgttagtgcttccgggttgcagccagggaagcctccgcggtggtgcaagtggaacc c.-421
. . . . . . g.5189
caagccttgaggtttcagtgagtagggggccgacgtgagctttagcgtccccctttagcc c.-361
. . . . . . g.5249
tccctcttcgattccttgaagaccctggtgcagcttagcaagagggcccaggatttttgg c.-301
. . . . . . g.5309
atccccagccctgtgacaagggttcctgtccagtttccccctcccaggatttcgactcag c.-241
. . . . . . g.5369
ttcagcgaagtcaccgccccgtctgagaaatgaggacaccaaggcttagagcacagcccc c.-181
. . . . . . g.5429
gaggcgccgtctaccaggccccgtcccctcccccggctcctgtcggtcagcactgaaacc c.-121
. . . . . . g.5489
ccgtccctgctccaggcctccttctctggggtccaaggtcccatacaggcctctgcctcg c.-61
. . . . . . g.5549
gccgcaggcccttcagtcaccgtcgcctcgtctccctgactgtccgcaggcctgggcagc c.-1
. . . . . . g.5609
ATGGCCGTATTCCGGTCGGGTCTCCTGGTGCTGACGACGCCGCTGGCCTCCCTAGCCCCT c.60
M A V F R S G L L V L T T P L A S L A P p.20
. . . . . . g.5669
CGCCTGGCCTCCATCCTGACCTCGGCGGCCCGGCTGGTGAATCACACACTCTATGTTCAC c.120
R L A S I L T S A A R L V N H T L Y V H p.40
. . . . . . g.5729
CTGCAGCCGGGCATGAGCCTGGAGGGCCCGGCTCAGCCCCAGTCCAGCCCCGTGCAGGCC c.180
L Q P G M S L E G P A Q P Q S S P V Q A p.60
. . . . . . g.5789
ACGTTTGAGGTTCTTGATTTCATCACGCACCTCTATGCTGGCGCCGACGTCCACAGGCAC c.240
T F E V L D F I T H L Y A G A D V H R H p.80
. . . . . . g.5849
TTGGACGTCAGAATCCTACTGACCAATATCCGAACCAAGAGCACCTTTCTCCCTCCCCTG c.300
L D V R I L L T N I R T K S T F L P P L p.100
. . . . . . g.5909
CCCACCTCAGTCCAGAATCTCGCCCACCCGCCAGAAGTCGTGTTGACAGATTTCCAGACC c.360
P T S V Q N L A H P P E V V L T D F Q T p.120
. . . . . . g.5969
CTGGATGGAAGCCAGTACAACCCGGTCAAACAGCAGCTAGTGCGTTACGCCACCAGCTGT c.420
L D G S Q Y N P V K Q Q L V R Y A T S C p.140
. . . . . . g.6029
TACAGCTGTTGTCCGCGACTGGCCTCGGTGCTGCTATACTCCGATTATGGGATAGGAGAA c.480
Y S C C P R L A S V L L Y S D Y G I G E p.160
. . . . . . g.6089
GTGCCCGTGGAGCCCCTGGATGTCCCCTTACCCTCCACGATCAGGCCAGCTTCCCCCGTG c.540
V P V E P L D V P L P S T I R P A S P V p.180
. . . . . . g.6149
GCCGGGTCTCCAAAGCAGCCGGTGCGTGGCTACTACCGTGGCGCTGTCGGTGGCACGTTT c.600
A G S P K Q P V R G Y Y R G A V G G T F p.200
. . . . . . g.6209
GACCGCCTGCACAACGCCCACAAGGTGTTGCTCAGTGTCGCGTGCATCCTGGCCCAGGAG c.660
D R L H N A H K V L L S V A C I L A Q E p.220
. . . . | 02 . . g.6907
CAGCTTGTGGTGGGAGTAGCAGACAAAGATCTGTTGAAGA | GCAAGTTGCTCCCTGAGCTG c.720
Q L V V G V A D K D L L K S | K L L P E L p.240
. . . . . . g.6967
CTCCAACCTTATACAGAACGTGTGGAACATCTGAGTGAATTCCTGGTGGACATCAAGCCC c.780
L Q P Y T E R V E H L S E F L V D I K P p.260
. . . . . . g.7027
TCCTTGACTTTTGATGTCATCCCCCTGCTGGACCCCTATGGGCCCGCTGGCTCTGACCCC c.840
S L T F D V I P L L D P Y G P A G S D P p.280
. . . . . . g.7087
TCCCTGGAGTTCCTGGTGGTCAGCGAGGAGACCTATCGTGGGGGGATGGCCATCAACCGC c.900
S L E F L V V S E E T Y R G G M A I N R p.300
. | 03 . . . . . g.7417
TTCCGCCTTGAGAAT | GACCTGGAGGAACTTGCTTTGTACCAGATCCAGCTGCTGAAGGAC c.960
F R L E N | D L E E L A L Y Q I Q L L K D p.320
. . . . . . g.7477
CTCAGACATACAGAGAATGAAGAGGACAAAGTCAGCTCCTCCAGCTTCCGCCAGCGAATG c.1020
L R H T E N E E D K V S S S S F R Q R M p.340
. . | 04. . . . g.7668
TTGGGGAACCTGCTTCGGCCTCCATAT | GAAAGGCCAGAGCTCCCCACATGTCTCTATGTA c.1080
L G N L L R P P Y | E R P E L P T C L Y V p.360
. . . . . . g.7728
ATTGGGCTGACTGGCATCAGTGGCTCTGGGAAGAGCTCAATAGCTCAGCGACTGAAGGGC c.1140
I G L T G I S G S G K S S I A Q R L K G p.380
. . . . . . g.7788
CTGGGGGCGTTTGTCATTGACAGTGACCACCTGGGTCATCGGGCCTATGCCCCAGGTGGC c.1200
L G A F V I D S D H L G H R A Y A P G G p.400
. . . | 05. . . g.7932
CCTGCCTACCAGCCTGTGGTGGAGGCCTTTGGAACAG | ATATTCTCCATAAAGATGGCATC c.1260
P A Y Q P V V E A F G T D | I L H K D G I p.420
. . . . | 06 . . g.8171
ATCAACAGGAAGGTCCTAGGCAGCCGGGTGTTTGGGAATAAG | AAGCAGCTGAAGATACTC c.1320
I N R K V L G S R V F G N K | K Q L K I L p.440
. . . . . . g.8231
ACGGACATTATGTGGCCAATTATCGCAAAGCTGGCCCGAGAGGAGATGGATCGGGCTGTG c.1380
T D I M W P I I A K L A R E E M D R A V p.460
| 07. . . . . . g.8450
GCTGAGG | GAAAGCGTGTGTGTGTGATTGATGCCGCTGTGTTGCTTGAAGCCGGCTGGCAG c.1440
A E G | K R V C V I D A A V L L E A G W Q p.480
. . . . | 08 . . g.8600
AACCTGGTCCATGAGGTGTGGACTGCTGTCATCCCAGAGACTGAG | GCTGTAAGACGCATT c.1500
N L V H E V W T A V I P E T E | A V R R I p.500
. . . . . . g.8660
GTGGAGAGGGATGGCCTCAGTGAAGCCGCGGCTCAAAGCCGGCTGCAGAGCCAGATGAGC c.1560
V E R D G L S E A A A Q S R L Q S Q M S p.520
. . . . . . g.8720
GGGCAGCAGCTTGTGGAACAGAGCCACGTGGTGCTCAGCACCTTGTGGGAGCCGCATATC c.1620
G Q Q L V E Q S H V V L S T L W E P H I p.540
. | 09 . . . . . g.8880
ACCCAACGCCAG | GTGGAGAAAGCCTGGGCCCTCTTGCAGAAGCGCATTCCCAAGACTCAT c.1680
T Q R Q | V E K A W A L L Q K R I P K T H p.560
. g.8895
CAGGCCCTCGACTGA c.1695
Q A L D X p.564
. . . . . . g.8955
aaagttctcagtggggccagactggctcctggagctgacaagcgaccccgtggtgaggag c.*60
. . . . . . g.9015
aaatgggggccttgatgctcaccctggttcaggcccagaggtccaagctatactgtgcag c.*120
. . . . . . g.9075
gacatggccaggcctggtggacacaggaagcctacccaacacgctggtatttggccaaca c.*180
. . . . . . g.9135
ctgaggatgtggttcatgggggagcagtcccctccccactcttgcccatgggtgactctt c.*240
. . . . . . g.9195
acccacagctgactagggccagcgcaaatactggaacctgtaacagaattaaaggtgaat c.*300
. g.9208
gttctgagatgtt c.*313
(downstream sequence)
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