(used for variant description)
(last modified February 20, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_133444.1 in the ZNF526 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering ZNF526 transcript NM_133444.1.
(upstream sequence)
. . . g.5036
agggtctgtgtcaagagcggcaggggctgcaggaga c.-121
. . | 02 . . . . g.8923
taagagaaacgg | gctgccgtggggtgtgtgtaggcttcagagacatgggatcacggaaga c.-61
. . . . . | 03 . g.9064
ctgaagcagaaacagtggattaagacttcctgagcgatagctg | gcactgccttccccaca c.-1
. . . . . . g.9124
ATGGCAGAGGTGGTGGCTGAGGTGGCCGAGATGCCAACACAGATGTCACCAGGGGCAGTG c.60
M A E V V A E V A E M P T Q M S P G A V p.20
. . . . . . g.9184
GAGATGTCAACACCTATGTCGGCAGAGATGATGGAGATGTCAACAGAAGTGACTGAGATG c.120
E M S T P M S A E M M E M S T E V T E M p.40
. . . . . . g.9244
ACACCTGGGGAGGCCCTTGCCTCATCCCTCTTCTTCCAGCATCACCAGTTCATGTGCTCT c.180
T P G E A L A S S L F F Q H H Q F M C S p.60
. . . . . . g.9304
GAGTGTGGCAGCCTCTATAACACACTGGAGGAAGTCCTCTCACACCAGGAGCAGCACATG c.240
E C G S L Y N T L E E V L S H Q E Q H M p.80
. . . . . . g.9364
CTTGCTGTCTCAGAGGAGGAGGCACTGACCACACAGAATGTTGGCCTGGAGCCGGAGCTG c.300
L A V S E E E A L T T Q N V G L E P E L p.100
. . . . . . g.9424
GTGCCGGGTGCTGAGGGGCCCTTCCAGTGTGGTGAATGCAGCCAGCTCATCCTCTCCCCT c.360
V P G A E G P F Q C G E C S Q L I L S P p.120
. . . . . . g.9484
GGGGAGCTCCTGGCCCACCAGGATGCCCACCTCCGAGAGTCTGCAAACCAGATCCAATAC c.420
G E L L A H Q D A H L R E S A N Q I Q Y p.140
. . . . . . g.9544
CAGTGCTGGGACTGCCAGGAGCTGTTCCCCTCGCCCGAGCTGTGGGTGGCTCATCGAAAG c.480
Q C W D C Q E L F P S P E L W V A H R K p.160
. . . . . . g.9604
GCCCAGCACCTTTCTGCTACGGTAGCTGAGCCACCAGTGCCACCTCCTTTGCCTCCCCCA c.540
A Q H L S A T V A E P P V P P P L P P P p.180
. . . . . . g.9664
ACACCACTGCCTCCACCTTCTCCCCCATCCGAAGTCAAGATGGAGCCCTATGAGTGTCCT c.600
T P L P P P S P P S E V K M E P Y E C P p.200
. . . . . . g.9724
GAGTGCTCTACCCTCTGCGCCACCCCTGAGGAGTTCTTGGAGCATCAGGGCACCCACTTT c.660
E C S T L C A T P E E F L E H Q G T H F p.220
. . . . . . g.9784
GACTCCCTAGAGAAAGAGGAGCGCAATGGGTTGGAGGAGGAGGAAGAGGACGATGAGGAG c.720
D S L E K E E R N G L E E E E E D D E E p.240
. . . . . . g.9844
GATGAAGAAGATGATGAAGAGATGGAGGATGAGGAGGCCATGGCAGAGGTCGGTGATGAT c.780
D E E D D E E M E D E E A M A E V G D D p.260
. . . . . . g.9904
GCTGTGGGAGGTGACGAGTCCACAGCTGGCTGGGCTCAGGGCTGCGGGGACTGTCCCCAG c.840
A V G G D E S T A G W A Q G C G D C P Q p.280
. . . . . . g.9964
CACCAGCCCTCAGCAGGGGCTCGCCGGCAACACCGGCGGACGGCTCACAGCCCGGCATCT c.900
H Q P S A G A R R Q H R R T A H S P A S p.300
. . . . . . g.10024
GCCACCCACCCCTTCCACTGCAGCCAGTGTCAGCGCAGTTTCAGCTCCGCCAACCGGCTG c.960
A T H P F H C S Q C Q R S F S S A N R L p.320
. . . . . . g.10084
CAGGCTCATGGGCGGGCCCATGTTGGTGGCACACATGAGTGTACAACCTGCTCCAAGGTC c.1020
Q A H G R A H V G G T H E C T T C S K V p.340
. . . . . . g.10144
TTCAAGAAAGCAGCATCGCTTGAGCAGCACTTGCGGCTGCATCGCGGGGAAGCCCGCTAC c.1080
F K K A A S L E Q H L R L H R G E A R Y p.360
. . . . . . g.10204
CTCTGTGTAGACTGTGGCCGCGGCTTTGGCACAGAACTCACGTTGGTGGCTCACCGGCGG c.1140
L C V D C G R G F G T E L T L V A H R R p.380
. . . . . . g.10264
GCCCACACTGCCAACCCATTGCATCGCTGTCGTTGCGGCAAGACGTTCAGCAACATGACC c.1200
A H T A N P L H R C R C G K T F S N M T p.400
. . . . . . g.10324
AAGTTCCTCTACCACCGGCGCACTCACGCCGGCAAAAGCGGGGCACCTCCCACAGGAGCA c.1260
K F L Y H R R T H A G K S G A P P T G A p.420
. . . . . . g.10384
ACAGCTCCCCCAGCTCCAGCGGAGCCCACCCCTCCACCACCACCCCCTGCCCCACCTGCC c.1320
T A P P A P A E P T P P P P P P A P P A p.440
. . . . . . g.10444
CAGCTGCCCTGCCCACAGTGCTCCAAGTCCTTTGCCTCAGCTTCCCGGCTGTCCCGGCAC c.1380
Q L P C P Q C S K S F A S A S R L S R H p.460
. . . . . . g.10504
CGGCGTGCAGTACACGGGCCCCCTGAACGGCGTCACCGCTGTGGGGTTTGTGGCAAGGGC c.1440
R R A V H G P P E R R H R C G V C G K G p.480
. . . . . . g.10564
TTCAAGAAGCTGATCCACGTGCGCAACCACCTGCGGACACACACGGGTGAGAGGCCCTTC c.1500
F K K L I H V R N H L R T H T G E R P F p.500
. . . . . . g.10624
CAGTGCCACTCATGTGGCAAGACCTTTGCTTCTTTGGCCAACCTCAGCCGCCACCAGCTG c.1560
Q C H S C G K T F A S L A N L S R H Q L p.520
. . . . . . g.10684
ACCCATACGGGTGCACGTCCCTACCAATGCCTGGACTGTGGCAAGCGCTTCACACAGAGC c.1620
T H T G A R P Y Q C L D C G K R F T Q S p.540
. . . . . . g.10744
TCCAACCTGCAGCAGCACCGGCGGTTGCACTTGCGGCCAGTCGCCTTTGCCCGCGCCCCC c.1680
S N L Q Q H R R L H L R P V A F A R A P p.560
. . . . . . g.10804
CGCCTCCCCATCACTGGTCTCTACAACAAGAGTCCCTACTACTGCGGGACTTGTGGCCGC c.1740
R L P I T G L Y N K S P Y Y C G T C G R p.580
. . . . . . g.10864
TGGTTCCGCGCCATGGCGGGCTTGCGACTGCATCAGCGGGTCCATGCCCGAGCTCGGACT c.1800
W F R A M A G L R L H Q R V H A R A R T p.600
. . . . . . g.10924
TTGACGCTACAGCCTCCCAGATCACCATCTCCTGCCCCACCCCCACCTCCAGAGCCTCAA c.1860
L T L Q P P R S P S P A P P P P P E P Q p.620
. . . . . . g.10984
CAGACTATCATGTGCACAGAGCTGGGGGAGACCATCGCCATCATTGAGACATCCCAGCCA c.1920
Q T I M C T E L G E T I A I I E T S Q P p.640
. . . . . . g.11044
CTGGCGCTTGAGGACACCCTGCAGCTGTGCCAGGCTGCACTGGGGGCCAGTGAAGCAGGC c.1980
L A L E D T L Q L C Q A A L G A S E A G p.660
. . . g.11077
GGGCTCTTGCAGTTGGACACGGCCTTCGTGTGA c.2013
G L L Q L D T A F V X p.670
. . . . . . g.11137
cgcagctgaaaagcaacaacaaaagggtttggttgcaacagccagtgtgggtacctctgg c.*60
. . . . . . g.11197
ggagagaggacctcctctgacaaactggtctggtacccaccatgtgccaggatccaccct c.*120
. . . . . . g.11257
ggcctctttttacccactgactccccagaacaacccttccaggcttctcttgtcatcttt c.*180
. . . . . . g.11317
ctctgcctgaggggaaactgaagctctgaaatgcgatgtgatctgtaccaggtcacccag c.*240
. . . . . . g.11377
ctatgctgcaaagtgggttggccaaggccctttgcactgcatcaccctggtgcccagcaa c.*300
. . . . . . g.11437
catcaggtaaccttcactgagcaccaagcttatgccaggtctgtgctggccactctcata c.*360
. . . . . . g.11497
tacctcttcagatcctctgcttgtacccccagcccttgccttccctggattttgggcacc c.*420
. . . . . . g.11557
caggactttgctctgcctggtggagggtacttgatttctctgggcttccttcatctcaat c.*480
. . . . . . g.11617
tctgacagtgtggaaggaaatctgtaggtacccaggtcctcagctccagactgggtgatg c.*540
. . . . . . g.11677
ctggagacccaggagcaagtcagcacaggctctgcccacaggaggcatgcacaatctggt c.*600
. . . . . . g.11737
aggagaaacgcacaagtacagatagcttgctctctgagtgtgtctcattgattcattcag c.*660
. . . . . . g.11797
cctgtgtgtcctaaagcctcccttctcccatactgggtgatgctgggggcagagatgagt c.*720
. . . . . . g.11857
caggcctaaggcttctctgggctgtgatggggatgtgcagggacagtgggatcccaggaa c.*780
. . . . . . g.11917
acagacctccatggtgggagatcaggagttaaggacttcctagagaaggtagtccctgaa c.*840
. . . . . . g.11977
ggaaaagtaggaatctggcagtgaaagaggaaaagaacattccaggcagacagcactgca c.*900
. . . . . . g.12037
agagggtgagctcttggtgtatttggagaccatccagttattcatctgactgcctacctg c.*960
. . . . . . g.12097
aggcaagcaccacacttaccactgtatgtgtactatgatcccaacaggcttgtgacatag c.*1020
. . . . . . g.12157
atttcatattatccctgttgtatagatttttaaaactggtggctgggcgtggtggctcac c.*1080
. . . . . . g.12217
gcctgtaatcccagcactttgggaggccgaggcgggcagatcacgaggtcaggagatcga c.*1140
. . . . . . g.12277
gaccatcctggctaacacggtgaaaccccgtctctactaaaaatacaaaaaattagccag c.*1200
. . . . . . g.12337
gagtggtggcgggcgcctgtggtggccagctactcaggaggctgaggcaggagaatggcg c.*1260
. . . . . . g.12397
tgaacccgggaggcggagcttgcagtgagccgagatcgcgccactgcactccagcctggg c.*1320
. . . . . . g.12457
cgacagagtgagactccctctcaaaagaaaataaaaataaaaataaactggccaggtgcg c.*1380
. . . . . . g.12517
gtggctcacgcttgcaatcccagtgctttgggagactgaggcaggaggatcacttaaggc c.*1440
. . . . . . g.12577
caggagttcgagaccagcctgggcaacagcaagacctcatctctacaaaacttaaaagtt c.*1500
. . . . . . g.12637
agccaggcctggtggcacatgcctgtaatccgagtgctttgggaggctgaggcaggagga c.*1560
. . . . . . g.12697
tcactcgagctcaagaattcaagacctgggcaagagagagagactttgtctctattaaaa c.*1620
. . . . . . g.12757
ataaaaatgattggccgagcatggtggtgcacaccagtattcccagctactctggaggct c.*1680
. . . . . . g.12817
gaggcggaggcaggattgcttgatatgagggagattgaggctgcagtgagctgtgttcac c.*1740
. . . . g.12862
accactgcactccagtctgggcaacagtgcaagaccctgtcactt c.*1785
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 27
©2004-2022 Leiden University Medical Center