(used for variant description)
(last modified January 13, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_152558.3 in the IQCE gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering IQCE transcript NM_152558.3.
(upstream sequence)
g.5004
ccag c.-181
. . . . . . g.5064
ggggaacgcaggtcgcttacccggctgggtaggtcggcggcctggttgccatggcagcgg c.-121
. . . . . . g.5124
ggtcgcgggccggcgccagggaaggccccgaggctgcgggcggccagggctgcccgcgga c.-61
. . . . . . g.5184
ttcccagacccggacgcccgagccagcaaccctgaggggcggccgggcagcgccgccacc c.-1
. . . | 02 . . . g.13142
ATGTTCCTGGGCACCGGGGAGCCGGCCTTGGACACG | GGAGATGACAGTCTGTCTGCAGTC c.60
M F L G T G E P A L D T | G D D S L S A V p.20
. . | 03 . . . . g.14992
ACCTTTGACTCTGATGTGGAGACG | AAAGCAAAAAGGAAAGCTTTCCACAAACCTCCACCC c.120
T F D S D V E T | K A K R K A F H K P P P p.40
. | 04 . . . . . g.17578
ACATCGCCAA | AGTCACCTTATCTCTCTAAGCCGAGAAAAGTGGCCTCCTGGAGGTCCCTC c.180
T S P K | S P Y L S K P R K V A S W R S L p.60
. . . . . . g.17638
AGGACGGCAGGGAGCATGCCTCTGGGCGGCCGAGCGTCCCTGACCCCGCAGAAGCTGTGG c.240
R T A G S M P L G G R A S L T P Q K L W p.80
. | 05 . . . . g.18235
CTGGGAACCGCAAAGCCAG | GAAGTCTGACCCAGGCCCTGAACTCACCCCTCACCTGGGAG c.300
L G T A K P G | S L T Q A L N S P L T W E p.100
. . . . . . g.18295
CATGCGTGGACTGGCGTCCCCGGCGGCACTCCTGACTGTCTGACAGACACCTTCAGAGTG c.360
H A W T G V P G G T P D C L T D T F R V p.120
. . . | 06 . . . g.19446
AAGAGGCCACATCTCAGGCGCTCTGCCAGCAACG | GTCATGTCCCTGGGACTCCTGTCTAC c.420
K R P H L R R S A S N G | H V P G T P V Y p.140
. . . . | 07 . . g.24259
AGAGAAAAAGAAGATATGTATGACGAGATTATTGAGTTAAAGAAG | TCATTGCACGTGCAG c.480
R E K E D M Y D E I I E L K K | S L H V Q p.160
. . . . . . g.24319
AAGAGCGACGTGGACCTGATGAGAACGAAGCTCCGGCGCCTGGAGGAGGAAAACAGCAGG c.540
K S D V D L M R T K L R R L E E E N S R p.180
. . . | 08 . . g.24499
AAGGACCGGCAGATAGAGCAGCTCCTGGATCCCAGCCGC | GGCACGGATTTTGTTCGGACT c.600
K D R Q I E Q L L D P S R | G T D F V R T p.200
. . . | 09 . . . g.28612
CTGGCAGAGAAAAGGCCCGATGCCAGTTGG | GTCATTAACGGGCTGAAGCAGAGGATCCTG c.660
L A E K R P D A S W | V I N G L K Q R I L p.220
. . . . | 10 . . g.29658
AAGCTGGAACAGCAGTGCAAGGAGAAGGACGGCACCATCAG | CAAACTCCAGACCGATATG c.720
K L E Q Q C K E K D G T I S | K L Q T D M p.240
. . . . . | 11 . g.30244
AAGACTACCAACCTGGAAGAGATGCGGATCGCCATGGAGACATACTACGAGGAG | GTGCAT c.780
K T T N L E E M R I A M E T Y Y E E | V H p.260
. . . . | 12 . . g.32226
CGTCTCCAGACCCTCTTGGCAAGTTCTGAAACCACCGGAAAGAA | GCCCCTGGGGGAGAAG c.840
R L Q T L L A S S E T T G K K | P L G E K p.280
. . . . . . g.32286
AAGACGGGCGCCAAAAGGCAGAAGAAGATGGGCAGTGCCCTCCTGAGCTTGTCCCGGAGT c.900
K T G A K R Q K K M G S A L L S L S R S p.300
. . . . . . g.32346
GTCCAGGAGCTCACGGAAGAGAACCAGAGCCTGAAGGAGGACCTGGACCGCGTGCTGAGC c.960
V Q E L T E E N Q S L K E D L D R V L S p.320
. . | 13 . . . g.33856
ACCTCCCCAACCATCTCCAAGACACAGG | GTTATGTGGAGTGGAGCAAGCCCCGGCTGCTG c.1020
T S P T I S K T Q G | Y V E W S K P R L L p.340
. . | 14 . . . . g.35945
AGGCGCATTGTGGAGCTGGAGAAG | AAACTAAGTGTGATGGAGAGCTCAAAATCACACGCC c.1080
R R I V E L E K | K L S V M E S S K S H A p.360
. . . . . . g.36005
GCAGAGCCAGTCAGATCACACCCGCCAGCCTGCCTTGCATCCAGCTCTGCGCTGCACAGA c.1140
A E P V R S H P P A C L A S S S A L H R p.380
. . . . . . g.36065
CAGCCACGAGGGGACCGCAACAAGGACCACGAGCGTCTCCGAGGGGCTGTGAGAGACCTG c.1200
Q P R G D R N K D H E R L R G A V R D L p.400
. . . . | 15 . . g.39040
AAGGAAGAGCGGACCGCGCTGCAGGAGCAGCTGCTGCAGAGAGA | TTTGGAGGTGAAGCAG c.1260
K E E R T A L Q E Q L L Q R D | L E V K Q p.420
. . . . . . g.39100
CTCCTGCAGGCGAAGGCCGACCTGGAGAAGGAGCTGGAGTGCGCGAGGGAGGGCGAGGAG c.1320
L L Q A K A D L E K E L E C A R E G E E p.440
. . | 16 . . . g.40919
GAGAGGAGAGAGCGAGAGGAGGTTTTGAG | AGAGGAGATTCAGACACTTACCAGCAAGCTC c.1380
E R R E R E E V L R | E E I Q T L T S K L p.460
. . . . . . g.40979
CAAGAATTGCAAGAAATGAAGAAAGAAGAGAAAGAGGATTGCCCGGAAGTTCCTCATAAG c.1440
Q E L Q E M K K E E K E D C P E V P H K p.480
| 17 . . . . . . g.44527
| GCCCAAGAGCTCCCAGCTCCCACTCCCAGCAGCAGGCACTGCGAGCAAGACTGGCCGCCG c.1500
| A Q E L P A P T P S S R H C E Q D W P P p.500
. . . . . . g.44587
GATTCCAGCGAGGAGGGGCTCCCGCGGCCCCGCTCCCCCTGCTCTGATGGGAGAAGAGAC c.1560
D S S E E G L P R P R S P C S D G R R D p.520
. . . . | 18 . g.47455
GCCGCGGCCAGAGTCCTGCAGGCCCAGTGGAAGGTGTACAAGCACAAG | AAAAAAAAGGCT c.1620
A A A R V L Q A Q W K V Y K H K | K K K A p.540
. | 19 . . . . . g.50931
GTTCTGGATGAG | GCGGCTGTGGTGCTTCAGGCAGCTTTCAGGGGACATCTCACGCGGACA c.1680
V L D E | A A V V L Q A A F R G H L T R T p.560
. . . . . . g.50991
AAGCTCTTAGCAAGCAAAGCACATGGCTCAGAGCCACCCAGCGTGCCAGGCCTCCCAGAC c.1740
K L L A S K A H G S E P P S V P G L P D p.580
| 20 . . . . . . g.51935
CAG | AGCTCTCCTGTGCCCCGCGTTCCGAGCCCCATCGCCCAGGCCACGGGCAGCCCTGTG c.1800
Q | S S P V P R V P S P I A Q A T G S P V p.600
. . . . . . g.51995
CAGGAGGAGGCCATCGTCATCATCCAGTCCGCTCTGCGGGCACACCTGGCCCGGGCCAGG c.1860
Q E E A I V I I Q S A L R A H L A R A R p.620
| 21 . . . . . . g.53181
CACAG | TGCTACCGGTAAAAGAACCACCACCGCAGCTTCTACCAGGAGGAGATCGGCTTCA c.1920
H S | A T G K R T T T A A S T R R R S A S p.640
. . . . | 22 . g.56057
GCCACACACGGGGACGCCTCCTCCCCACCCTTCCTCGCAGCTCTTCCTG | ACCCCTCTCCC c.1980
A T H G D A S S P P F L A A L P D | P S P p.660
. . . . . . g.56117
TCAGGGCCACAGGCCTTGGCACCTCTACCTGGGGATGACGTCAACTCCGATGATTCCGAC c.2040
S G P Q A L A P L P G D D V N S D D S D p.680
. . . . g.56165
GATATTGTCATTGCACCGTCTCTGCCCACGAAGAACTTTCCAGTTTAG c.2088
D I V I A P S L P T K N F P V X p.695
. . . . . . g.56225
gtccccgtcactgtctccacgccgtgatggcagcgctgccgaggacataggaaccacgac c.*60
. . . . . . g.56285
tggaaagataatttatcgtgttaggagaagaacgatgatacctacttaacacctcagcat c.*120
. . . . . . g.56345
ctgcgtcgtgtctctttgtgcttttgtttgtggaaggagacccaaatgcctttactttat c.*180
. . . . . . g.56405
tctctggggagggccagcggctcgcatccccctcatctccagctgcagctcggatggtgg c.*240
. . . . . . g.56465
attttcagtgccaacagacacatctgccgtgaactcgcagatgccagggagccctgtagt c.*300
. . . . . . g.56525
gacacgttctctgacagcaccttgccgcctgcccacgaccttgaccgtgaggagctgcta c.*360
. . . . . . g.56585
tccgcaaccagcgccgacaccatgccccctcttcctggtgacaccctcaacaaccaggat c.*420
. . . . . . g.56645
ttgctcgatctcagcccagcaggccaggcagacacaccccgctgtgccttaggaaggtgt c.*480
. . . . . . g.56705
gagaccggcttcccccatccccacagcaaaacacggcctgtcccaagccagtgaggagct c.*540
. . . . . . g.56765
aaagacacccaggtccccaaatgatcttactccatgccccacccgctcacaccgtccttt c.*600
. . . . . . g.56825
cccgtcacccttgctatcccctggagcactgccctccagagctgcccttcccaggaagga c.*660
. . . . . . g.56885
atttggttggattctgtcactgtggagaccaagattttttaaaattcccaattacaaaag c.*720
. . . . . . g.56945
cagcatcacacttgcttctgagaacagcagggtgatgtctgttcccaagctggtggcggg c.*780
. . . . . . g.57005
agccttagcctgtgtggggccacccggggaagaggaggagaggagggtgaggaggcaggc c.*840
. . . . . . g.57065
tcgccgttccaagggacagcataggctcgtggtggggcgtgttgcatctggtgtctggga c.*900
. . . . . . g.57125
cagtccccgtcaccccatgtgtgcggcctctgcactcccaagctccatggctgggctggg c.*960
. . . . . . g.57185
ctgggctgggctgggctgggccgggcgtgcggagcctgtggagccagcagctgcagaggc c.*1020
. . . . . . g.57245
ctaggagggagttcctgggggaagcgcacagtgtccagtgcccatctcttgcttgtgtgt c.*1080
. . . . . . g.57305
gagattagcccttgctggggcgtcaagaggaagagccttagacctgggcgggccttcagg c.*1140
. . . . . . g.57365
ggcatctagacccctgcacagcccaggcctggtgtctgcatttccacagcacccctgtgg c.*1200
. . . . . . g.57425
ggactcctgccggggctggccgctgtctcaggagagacccaatggttagaaagccccttt c.*1260
. . . . . . g.57485
ttacacagctgacagcttctcccaaggcttccgtccacggggacaggcttaacccctggg c.*1320
. . . . . . g.57545
cgccttttctgcagcatggcggccttctgagtcacctaagctgagcctgggtcattctct c.*1380
. . . . . . g.57605
gtggcggtcagaaggccgatggccccaacacagtggcttgtgaaagggagagaggaggct c.*1440
. . . . . . g.57665
ctgcatgtccacctgctctatgggaggaggacacaggtgtccccagcccagcctgttctc c.*1500
. . . . . . g.57725
tcccagtcactcagggatggggccacccaaagtgcaggacccgccccaccctgcggttcg c.*1560
. . . . . . g.57785
aagcctggcccctgtctccacttagcttctgtttctgcagtgggtggaagcgagtcagcg c.*1620
. . . . . . g.57845
gggggcctggcttgtgtacgtgttttccttatttggtctgtgggttgccaagtccatttt c.*1680
. . . . . . g.57905
tttttccactgaactggctggtaacttgatggactgtgtaactgacacaggccctcttta c.*1740
. . . . . . g.57965
gacccctgccttcaccccacccgcccgggtccactccctggggcgctgtcccaagccatc c.*1800
. . . . . . g.58025
cctgcttgccagctcaaagcttcaggtcctaggagccagtccacctcgaaagccctgaga c.*1860
. . . . . . g.58085
aagtgagacacctgcacattcgctgggggagaccctccgttctcttgtggcagctgctcc c.*1920
. . . . . . g.58145
cacttgttaaaccaagctgtttctgcgggacgtgctcactcttgggaaccagtggcctag c.*1980
. . . . . . g.58205
agctttgggttacaggcatggagagggctttcctgcctcaggcttggaggccaatgttcc c.*2040
. . . . . . g.58265
atacataaaccgccatgtcctctggtgcagctgggctgctcttttaaaagccagcatcca c.*2100
. . . . . . g.58325
tcttgaagctcgctgggtaaatggcaatgcattctcaagccagtgtcttcagctgatgcc c.*2160
. . . . . . g.58385
cagtgtccagtgctggtcaccagtcccctttgctgggtacagcctgcctggctgttctgt c.*2220
. . . . . . g.58445
ggtcctggaacgctgcagtgtggttttgttccatggagacagtaccaagcggagaggcct c.*2280
. . . . . . g.58505
ccttgcccacggccccagggcctgggggccaggggttctggccctgcggggacttaggca c.*2340
. . . . . . g.58565
ggaggggaagagaagcccatggagccatgggaggggtgagctgtgggcggggcctagtca c.*2400
. . . . . . g.58625
tgggaggggtgagctgtgggcggggcgagctgtgggtggggcctagccatgggagaggtg c.*2460
. . . . . . g.58685
agctgtgaatggggctagctatgggtggggtgagctgtggacagggcctagccatgggaa c.*2520
. . . . . . g.58745
aggtgagctgtgggcggggcctagtcacgggagaggtgagctgtgggcggggcctagtca c.*2580
. . . . . . g.58805
tgggaggggtgagctgtggatggggcctagccatgggaggggtgagctgtgagtggggct c.*2640
. . . . . . g.58865
gagccatgggagcagcaagctggtggagtgggctgggcggagctgtgggggctgctggca c.*2700
. . . . . . g.58925
gggcctaggaaagtagacaactcccgggggagacgaagtagagagtgagtccccaagaaa c.*2760
. . . . . . g.58985
gggactcctgccccagcgtcaagtgccaaagcaggccccatctaccacttcagggtcgac c.*2820
. . . . . . g.59045
gttggtggcaggtgttgttcacggtgtactgattgtcactgcaacacctccacatcacct c.*2880
. . . . . . g.59105
tgaacttcaagaacagcagcaaagctgtatctgctatcagaggctgttaggtagtccagc c.*2940
. . . . . . g.59165
tttaaaataacacactctttctctatcccatgccctttaaacaagcagccacaggagatg c.*3000
. . . . . . g.59225
tcagtctccagggcctggccccactgtgttgacagcagtcacgtctgttgagctgacact c.*3060
. . . . . . g.59285
gctgaggctgaagctggccccgtgcaggtggctggtgagccacaggtgcagtacccggag c.*3120
. . . . . . g.59345
gtgtgctctcccctagaggcctgtccccaactcctcccctagaggcctattcccgctgct c.*3180
. . . . . . g.59405
cacagacctcagcagaggcaccagctggagggctccagggacatccttggagatacagga c.*3240
. . . . . . g.59465
ggctttcctggcacagggcacagctcttaggaggcctttgtaggacgctgtctccccagc c.*3300
. . . . . . g.59525
gtgtcctgctcatccaggatggggagaaagaggaggaggccccaggctcagaagccaggg c.*3360
. . . . . . g.59585
acagactgccgacgattaccaaactgaatccaggcagtgccatgaccctgggtgtccctt c.*3420
. . . . . . g.59645
ggttcacatcacccaccagacagctgcggagagagtgcagggaggggctgggaccaaaca c.*3480
. . . . . . g.59705
ggccagaaaccagcagaaaagaggcagaagtgaggtgggtgtgcctggggcacgaagcca c.*3540
. . . . . . g.59765
gcgccggggggatttcagtggagccttacagccaggctccgtgcggactgtgatgccaga c.*3600
. . . . . . g.59825
gaggcgtgcagcctctgggcaagtcgggagagggcttgggtggtccccacaaggcagaag c.*3660
. . . . . . g.59885
aggtggaagggccagagaagaccaccaagaccaccgttcccgcaggcctggggtgagtga c.*3720
. . . . . . g.59945
cctgactgagactagcgggcagagccaagcagggctaaactccaacccagggcccggtgt c.*3780
. . . . . . g.60005
tggacaaagtagctttttctttgctcgtttgtctgtgtattaagaagagactaaaatagc c.*3840
. . . . . . g.60065
caaacgacgctggtcgcatgcgctggctgtggtctgtctgctgaatgtctatttttgtct c.*3900
. . . . . . g.60125
cctgacgagacgtgaggaccatgcccttgatccctccgatggaccagaaacccccttcct c.*3960
. . . . . . g.60185
tgcaaaaaaaaggcaattgaattaggaaaagatagcccaacctagctcagatccaccaag c.*4020
. . . . . . g.60245
ataagcacagcaaagcttggctgcatttttgaggaataaaaacctgcagaaagcaccgat c.*4080
. . . . . . g.60305
aaccttcaagatctgaatgagattctattataacccgtctaaacgattgcaaaattcctc c.*4140
. . . . . . g.60365
ctttggttttggaagcagcgtttgctctcccgtggctcggattctctgaggaccagggag c.*4200
. . . . . . g.60425
ttgacacacaaaccccgccatgggtccgagccagctatttctcaaggctcccacctcgcc c.*4260
. . . . . . g.60485
aagctcccaagggcctgctggcagtgcctacgctgtgccaactaccctgtctggtacaga c.*4320
. . . . . . g.60545
ccacggctgggtaagcacccttaaaagcaacagaaatgacgtctggaagctgaaatgtga c.*4380
. . . . . . g.60605
aactgtcaagatggcttaggagaggaaggagtggacccgctggtctttggcattttgtat c.*4440
. . . . . . g.60665
ttagaattattctaactttatacataatgtataggccgatcttttggaagggataaggtt c.*4500
. . . . . . g.60725
ttcattcttgtgcaactcattattctcattattggccttttaaataaaaagttgttttgc c.*4560
. g.60737
agtgtgccttga c.*4572
(downstream sequence)
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