(used for variant description)
(last modified December 19, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_001142551.1 in the WDR47 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering WDR47 transcript NM_001142551.1.
(upstream sequence)
. g.5016
gactcgcccttcggct c.-361
. . . . . . g.5076
caggcacctgcctggccgccccgcgcggcggggtcctgaggcgcctcggggaagcgcggc c.-301
. . . . . . g.5136
gattggctgccgctcgcgggtagagctcggctccccggcacttgacaaccgcagtctgca c.-241
. . . . . . g.5196
agaggctgagctgaggagtcgctgggccgggaggggcggacgtgagaaggacggattgac c.-181
. . . . . . g.5256
gaactgatggattgacgcgcgggcggtaggagggaggaccgacgccaaacccagaccgcc c.-121
. . . . . . g.5316
gccgtcgtgctcctgccgcagcccggagccggccgcttcggggccctggccgccggcctc c.-61
. . . . . . | 02 g.23716
ccagccgcgttctcctccgccgctcctccgggcttgccctggagccctcag | gctatcaat c.-1
. . . . . . g.23776
ATGACGGCTGAAGAAACAGTGAATGTAAAAGAGGTTGAAATCATTAAGCTAATTTTGGAC c.60
M T A E E T V N V K E V E I I K L I L D p.20
. . . . . . g.23836
TTCCTGAATTCAAAGAAGCTTCACATTAGTATGCTGGCCCTGGAGAAGGAAAGTGGAGTC c.120
F L N S K K L H I S M L A L E K E S G V p.40
. . . | 03 . . g.29649
ATAAATGGCCTGTTTTCAGATGATATGCTTTTCCTGAG | GCAGCTAATACTTGATGGTCAA c.180
I N G L F S D D M L F L R | Q L I L D G Q p.60
. . . . . . g.29709
TGGGATGAAGTTCTTCAGTTCATTCAGCCTCTAGAATGTATGGAAAAATTTGACAAAAAA c.240
W D E V L Q F I Q P L E C M E K F D K K p.80
| 04 . . . . . . g.33361
AG | GTTTCGTTATATTATCCTGAAGCAGAAGTTTTTAGAAGCTTTATGTGTTAACAACGCG c.300
R | F R Y I I L K Q K F L E A L C V N N A p.100
. . | 05. . . . g.35543
ATGTCAGCAGAAGATGAGCCCCAGCAT | CTGGAATTTACCATGCAAGAAGCTGTGCAATGT c.360
M S A E D E P Q H | L E F T M Q E A V Q C p.120
. . . . . . g.35603
TTACATGCTCTAGAAGAATACTGTCCTTCTAAAGATGACTATAGTAAGCTCTGTTTGCTT c.420
L H A L E E Y C P S K D D Y S K L C L L p.140
. . . . . . g.35663
TTGACTTTGCCTCGTCTGACCAATCATGCCGAGTTTAAGGACTGGAATCCCAGCACCGCA c.480
L T L P R L T N H A E F K D W N P S T A p.160
. . . . . . g.35723
CGAGTTCACTGTTTTGAAGAGGCTTGTGTCATGGTTGCAGAATTCATCCCTGCTGATAGG c.540
R V H C F E E A C V M V A E F I P A D R p.180
. . . . . . g.35783
AAGCTAAGTGAAGCTGGTTTTAAGGCTAGTAACAATCGTTTATTTCAGCTTGTAATGAAA c.600
K L S E A G F K A S N N R L F Q L V M K p.200
. . . . . . g.35843
GGCCTGCTTTATGAATGCTGTGTAGAATTTTGTCAGAGTAAAGCAACTGGAGAAGAAATT c.660
G L L Y E C C V E F C Q S K A T G E E I p.220
. . . . . . g.35903
ACAGAAAGCGAAGTGCTTCTTGGCATCGACCTCTTATGTGGTAATGGTTGTGATGATTTG c.720
T E S E V L L G I D L L C G N G C D D L p.240
. . . . . . g.35963
GATCTGAGTTTACTGTCATGGCTTCAGAATCTTCCATCTTCTGTCTTCTCTTGTGCTTTT c.780
D L S L L S W L Q N L P S S V F S C A F p.260
. . . . . . g.36023
GAACAGAAAATGCTTAATATTCATGTTGACAAACTTCTGAAACCTACAAAAGCTGCATAT c.840
E Q K M L N I H V D K L L K P T K A A Y p.280
. . . . . . g.36083
GCTGATCTTTTGACTCCTCTTATCAGCAAACTCTCTCCCTATCCATCATCCCCAATGAGA c.900
A D L L T P L I S K L S P Y P S S P M R p.300
. . . . . . g.36143
AGACCTCAATCAGCTGATGCCTATATGACCCGCTCTCTGAATCCTGCTTTAGATGGCCTC c.960
R P Q S A D A Y M T R S L N P A L D G L p.320
. . . . . . g.36203
ACCTGTGGACTAACCAGTCATGATAAGAGAATTTCAGACCTTGGAAACAAAACTTCTCCA c.1020
T C G L T S H D K R I S D L G N K T S P p.340
. . . . . . g.36263
ATGTCACACTCCTTTGCTAACTTCCATTATCCAGGGGTACAAAACCTCAGTAGAAGTCTC c.1080
M S H S F A N F H Y P G V Q N L S R S L p.360
. . . . . | 06 . g.42523
ATGCTTGAGAATACAGAATGTCACAGTATTTACGAAGAATCCCCTGAGCG | TGATACACCT c.1140
M L E N T E C H S I Y E E S P E R | D T P p.380
. . . . . . g.42583
GTTGATGCACAGAGGCCTATCGGCAGTGAAATCTTGGGCCAGAGTTCAGTTTCAGAAAAA c.1200
V D A Q R P I G S E I L G Q S S V S E K p.400
. . . . . | 07 . g.44832
GAGCCTGCAAATGGAGCACAGAATCCAGGACCAGCTAAACAAGAAAAAAATGAG | CTTCGA c.1260
E P A N G A Q N P G P A K Q E K N E | L R p.420
. . . . . . g.44892
GATTCAACAGAACAATTTCAAGAATATTATAGGCAAAGATTACGCTATCAACAGCATTTA c.1320
D S T E Q F Q E Y Y R Q R L R Y Q Q H L p.440
. . . . . . g.44952
GAACAGAAGGAGCAACAGCGGCAGATATACCAACAGATGTTGCTTGAAGGAGGCGTGAAT c.1380
E Q K E Q Q R Q I Y Q Q M L L E G G V N p.460
. . . . . | 08 . g.51398
CAGGAGGATGGTCCTGATCAGCAGCAGAATCTTACTGAACAGTTCCTTAATAG | GTCCATT c.1440
Q E D G P D Q Q Q N L T E Q F L N R | S I p.480
. . . . . . g.51458
CAAAAGCTTGGTGAATTAAATATTGGAATGGATGGCCTTGGTAATGAGGTATCAGCACTC c.1500
Q K L G E L N I G M D G L G N E V S A L p.500
. . . . . . g.51518
AACCAGCAATGTAATGGGAGCAAAGGCAATGGATCTAATGGTTCTTCTGTGACTAGTTTT c.1560
N Q Q C N G S K G N G S N G S S V T S F p.520
. . . . . . g.51578
ACTACACCACCCCAAGACTCTAGTCAGAGATTAACACATGATGCTTCAAATATTCATACA c.1620
T T P P Q D S S Q R L T H D A S N I H T p.540
. . . . . . g.51638
AGCACTCCTCGTAATCCTGGATCAACAAATCACATACCTTTTCTGGAGGAATCACCTTGT c.1680
S T P R N P G S T N H I P F L E E S P C p.560
. | 09 . . . . . g.55948
GGAAGCCAAAT | CTCTTCAGAACATTCGGTCATTAAGCCACCTCTTGGAGATTCTCCAGGG c.1740
G S Q I | S S E H S V I K P P L G D S P G p.580
. . | 10. . . . g.60581
AGTCTTTCAAGGTCGAAAGGGGAAGAG | GATGACAAATCAAAAAAGCAGTTTGTTTGTATT c.1800
S L S R S K G E E | D D K S K K Q F V C I p.600
. . . . . . g.60641
AATATCCTAGAAGACACACAAGCTGTTAGAGCAGTGGCTTTTCATCCAGCTGGAGGTTTA c.1860
N I L E D T Q A V R A V A F H P A G G L p.620
. . . . . . g.60701
TATGCTGTTGGTTCAAATTCAAAAACTCTGAGAGTATGTGCCTATCCAGATGTAATTGAT c.1920
Y A V G S N S K T L R V C A Y P D V I D p.640
| 11 . . . . . . g.63832
CCAAG | TGCACATGAGACTCCTAAGCAGCCGGTGGTACGTTTTAAAAGGAATAAACATCAT c.1980
P S | A H E T P K Q P V V R F K R N K H H p.660
. . . . . . g.63892
AAAGGATCCATTTACTGTGTGGCCTGGAGTCCTTGTGGGCAGTTATTAGCAACAGGATCA c.2040
K G S I Y C V A W S P C G Q L L A T G S p.680
. . . . . | 12 . g.64454
AATGACAAATACGTCAAAGTGCTGCCCTTCAATGCAGAGACTTGTAACGCAACAG | GACCA c.2100
N D K Y V K V L P F N A E T C N A T G | P p.700
. . . . . . g.64514
GATCTGGAATTTAGTATGCATGATGGAACAATTAGAGACTTGGCATTTATGGAAGGCCCA c.2160
D L E F S M H D G T I R D L A F M E G P p.720
. . . . . . g.64574
GAAAGCGGAGGAGCTATTTTAATAAGTGCTGGAGCAGGGGATTGTAACATTTATACAACC c.2220
E S G G A I L I S A G A G D C N I Y T T p.740
. . . . | 13 . . g.65378
GATTGTCAAAGAGGACAGGGCCTCCATGCTTTGAGTGGACATACTG | GGCATATTTTAGCA c.2280
D C Q R G Q G L H A L S G H T G | H I L A p.760
. . . . . . g.65438
CTTTATACCTGGAGTGGCTGGATGATTGCATCTGGTTCCCAAGATAAGACTGTTAGATTT c.2340
L Y T W S G W M I A S G S Q D K T V R F p.780
. . . . . | 14 g.72476
TGGGATCTTCGAGTACCAAGTTGTGTTCGTGTTGTTGGCACAACATTTCATGGAACTG | GC c.2400
W D L R V P S C V R V V G T T F H G T G | p.800
. . . . . . g.72536
AGTGCAGTGGCATCTGTAGCTGTAGATCCCAGTGGTCGTCTCTTAGCCACAGGTCAAGAA c.2460
S A V A S V A V D P S G R L L A T G Q E p.820
. . . . . . g.72596
GATTCTAGCTGCATGTTGTATGACATAAGAGGAGGAAGAATGGTACAAAGTTATCATCCT c.2520
D S S C M L Y D I R G G R M V Q S Y H P p.840
. . . . . . g.72656
CATTCCAGTGATGTTCGCTCTGTTCGATTCTCCCCTGGAGCTCACTACTTGCTAACAGGC c.2580
H S S D V R S V R F S P G A H Y L L T G p.860
. . . | 15. . . g.75679
TCTTATGATATGAAAATAAAGGTGACAGACCTACAAG | GGGACCTCACCAAGCAGCTTCCT c.2640
S Y D M K I K V T D L Q G | D L T K Q L P p.880
. . . . . . g.75739
ATCATGGTGGTGGGGGAGCACAAGGACAAAGTGATTCAGTGCAGATGGCACACCCAGGAT c.2700
I M V V G E H K D K V I Q C R W H T Q D p.900
. . . . . . g.75799
CTTTCCTTCCTGTCATCCTCTGCAGATAGAACTGTCACCCTCTGGACTTACAATGGGTAG c.2760
L S F L S S S A D R T V T L W T Y N G X p.919
. . . . . . g.75859
agcacaccgcatgtcagtctatgcagcaaaagcacagagacttaagactactgagttgtg c.*60
. . . . . . g.75919
aaaattacaaatctgaagaacatagtgtccaggaaagtggtttagcacgaagaggcccct c.*120
. . . . . . g.75979
tattaccatgtatcccactgataggaggtgttgggtggtgttattccgcagtgctttcag c.*180
. . . . . . g.76039
tcttccatgtgagctcgtgctgctgtgacctgctatatgtagtctcgttgccaaagtctg c.*240
. . . . . . g.76099
cagaagagctcttcagttgttggtgtgcactccaagtcaggatggacaatgtgtttacgg c.*300
. . . . . . g.76159
tttagtattcaatgcattccttggtctttgcctaaataacagttttatatgcacattgaa c.*360
. . . . . . g.76219
atggaattatacttcaactatattattaaatgtaatgcaaccaagttcctcccagattaa c.*420
. . . . . . g.76279
acttcccaggtgttcagaattacttttgctcttctcacgatcccatattgtattatcact c.*480
. . . . . . g.76339
tgtcttctagaggtcagaattccataatatatgtcactcaaaagttacatggttgctttc c.*540
. . . . . . g.76399
acttaaggatcattgtggagtttaaagatgaatgaaaaactgcttcttagtttactacat c.*600
. . . . . . g.76459
ggtataggcccttttttcttaaacccagggatatgattattttgtcatataattttgttt c.*660
. . . . . . g.76519
caggctaaaaggtaaatgtgtttgcttcagaaacttgttaacttcagttttttgaatgca c.*720
. . . . . . g.76579
acaggatacctcccttccaaactgaactgtagaagcagagcagcagcagttatgtgatgc c.*780
. . . . . . g.76639
aacacttgatggtacagtaaatttactggcatttttctccttaaaaattaaaatccttga c.*840
. . . . . . g.76699
catagaccatagcatggcttgaaatgctatgtctgcatgataatttaaaatggaagattt c.*900
. . . . . . g.76759
aaactttgcactccaaaagcttatttggatttttttcttgcactgttttgtgtaatgcag c.*960
. . . . . . g.76819
aataatgattttatttctacagctttgtagattctaacatttatgtatctttattttcat c.*1020
. . . . . . g.76879
attgtacagtaattttactttaaattatttaaataggctattttatttatttcaaatgca c.*1080
. . . . . . g.76939
gttgtattagttctcattattgaactgtctgtgcactgtatgtagcaagcatttttcatc c.*1140
. . . . . . g.76999
tgttgtatacaagtggaaagggtattagaagtgtaactgtgctattatttcaataaagac c.*1200
. g.77015
ctcttgacatttaaaa c.*1216
(downstream sequence)
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