(used for variant description)
(last modified October 7, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_013265.3 in the VPS51 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering VPS51 transcript NM_013265.3.
(upstream sequence)
. g.4920
gaaggacctagggctg c.-121
. . . . . . g.4980
cagggggacgtttcacctgaaggactgcctcgtttcaacaacaactttatggctcccgga c.-61
. . . . . . g.5040
agtgcctcctccccgtccccttcctttccagcctcacgcccgtgggctgcagttggaacg c.-1
. . . . . . g.5100
ATGGCGGCGGCAGCTGCCGCCGGGCCTAGCCCGGGGTCTGGACCTGGGGACTCCCCAGAA c.60
M A A A A A A G P S P G S G P G D S P E p.20
. . . . . . g.5160
GGGCCCGAGGGGGAGGCTCCGGAGCGTCGGCGGAAGGCGCACGGGATGCTGAAGCTTTAC c.120
G P E G E A P E R R R K A H G M L K L Y p.40
. . . . . . g.5220
TACGGCCTCTCGGAAGGGGAGGCGGCGGGACGCCCCGCGGGGCCCGACCCCCTGGACCCG c.180
Y G L S E G E A A G R P A G P D P L D P p.60
. . . . | 02 . g.5799
ACTGATCTGAACGGGGCGCACTTCGACCCGGAAGTTTACCTAGACAAG | CTGCGTAGAGAG c.240
T D L N G A H F D P E V Y L D K | L R R E p.80
. . . . . . g.5859
TGCCCTCTGGCCCAGTTGATGGACAGTGAGACGGACATGGTGCGGCAGATCCGGGCTCTA c.300
C P L A Q L M D S E T D M V R Q I R A L p.100
. . . . . | 03 g.16372
GACAGCGACATGCAGACCCTGGTCTATGAGAACTACAACAAGTTCATCTCAGCCACAG | AC c.360
D S D M Q T L V Y E N Y N K F I S A T D | p.120
. . . . . . g.16432
ACCATCCGGAAGATGAAGAACGATTTCCGGAAGATGGAGGATGAGATGGACCGGCTGGCC c.420
T I R K M K N D F R K M E D E M D R L A p.140
. . . . . . g.16492
ACCAACATGGCAGTGATCACCGACTTCAGCGCTCGCATCAGCGCCACGCTGCAGGACCGC c.480
T N M A V I T D F S A R I S A T L Q D R p.160
. . | 04 . . . . g.16627
CACGAGCGCATCACCAAGCTGGCAG | GGGTCCACGCGCTGCTGCGGAAGCTGCAGTTCCTC c.540
H E R I T K L A G | V H A L L R K L Q F L p.180
. . . . . . g.16687
TTTGAGCTGCCCTCGCGCCTCACCAAGTGCGTGGAACTGGGCGCCTATGGGCAGGCGGTG c.600
F E L P S R L T K C V E L G A Y G Q A V p.200
. . . . . . g.16747
CGCTACCAGGGCCGCGCGCAGGCCGTGCTGCAGCAGTACCAACACCTGCCCTCGTTCCGC c.660
R Y Q G R A Q A V L Q Q Y Q H L P S F R p.220
. . . . . . g.16807
GCCATCCAGGACGACTGCCAGGTCATCACGGCCCGCCTGGCCCAGCAGCTGCGGCAGCGC c.720
A I Q D D C Q V I T A R L A Q Q L R Q R p.240
| 05 . . . . . . g.17041
TTTAG | GGAGGGCGGCTCAGGCGCCCCGGAGCAGGCAGAGTGCGTGGAGCTGCTGCTGGCC c.780
F R | E G G S G A P E Q A E C V E L L L A p.260
. . . . . . g.17101
CTGGGCGAGCCTGCGGAGGAGCTGTGCGAGGAGTTCCTGGCGCACGCCCGCGGCCGGCTG c.840
L G E P A E E L C E E F L A H A R G R L p.280
. . . . . . g.17161
GAGAAGGAGCTGAGAAACCTGGAGGCCGAGCTGGGGCCCTCACCTCCGGCTCCCGACGTG c.900
E K E L R N L E A E L G P S P P A P D V p.300
. . . . . . g.17221
TTAGAGTTCACCGACCATGGAGGCAGTGGCTTCGTGGGCGGCCTCTGCCAGGTGGCGGCG c.960
L E F T D H G G S G F V G G L C Q V A A p.320
. . . . . . g.17281
GCCTACCAGGAGCTGTTTGCGGCCCAGGGCCCAGCAGGTGCCGAGAAGCTGGCGGCCTTC c.1020
A Y Q E L F A A Q G P A G A E K L A A F p.340
. . . . . . g.17341
GCCCGGCAGCTGGGCAGCCGCTATTTTGCGCTGGTGGAGCGGCGGCTGGCGCAGGAGCAG c.1080
A R Q L G S R Y F A L V E R R L A Q E Q p.360
. . . . . . g.17401
GGTGGTGGTGACAACTCACTGCTGGTGCGGGCGCTGGACCGCTTCCACCGGCGCTTGCGG c.1140
G G G D N S L L V R A L D R F H R R L R p.380
. . . . . . g.17461
GCTCCCGGGGCCCTGCTGGCCGCTGCCGGGCTCGCAGACGCTGCCACGGAGATCGTGGAA c.1200
A P G A L L A A A G L A D A A T E I V E p.400
. . . . . . g.17521
CGAGTGGCCCGCGAGCGCCTGGGCCACCACCTGCAGGGTCTCCGGGCGGCCTTCCTGGGC c.1260
R V A R E R L G H H L Q G L R A A F L G p.420
. . . . . . g.17581
TGCCTGACAGACGTCCGCCAGGCGCTGGCAGCACCTCGCGTGGCTGGGAAGGAGGGCCCT c.1320
C L T D V R Q A L A A P R V A G K E G P p.440
. . . . . . g.17641
GGCCTGGCCGAGTTGCTGGCCAATGTGGCCAGCTCCATCCTGAGCCACATTAAGGCCTCT c.1380
G L A E L L A N V A S S I L S H I K A S p.460
. . . . . . g.17701
CTGGCAGCAGTGCACCTTTTCACCGCCAAAGAGGTGTCCTTCTCCAACAAGCCCTACTTC c.1440
L A A V H L F T A K E V S F S N K P Y F p.480
| 06 . . . . . . g.18126
CGG | GGTGAGTTCTGCAGTCAGGGTGTCCGTGAGGGCCTCATCGTGGGCTTCGTCCACTCT c.1500
R | G E F C S Q G V R E G L I V G F V H S p.500
. . . . . . g.18186
ATGTGCCAGACGGCTCAGAGCTTCTGCGACAGCCCTGGGGAGAAGGGGGGTGCCACACCA c.1560
M C Q T A Q S F C D S P G E K G G A T P p.520
. . . . . . g.18246
CCTGCCCTGCTCCTGCTGCTCTCCCGCCTCTGCCTGGACTACGAGACGGCCACCATCTCC c.1620
P A L L L L L S R L C L D Y E T A T I S p.540
. . . | 07 . . g.18515
TACATCCTCACTCTCACTGATGAACAGTTTCTGGTGCAG | GATCAGTTCCCAGTGACGCCC c.1680
Y I L T L T D E Q F L V Q | D Q F P V T P p.560
. . . . . . g.18575
GTGAGCACGCTGTGTGCAGAGGCCAGGGAAACGGCGCGGCGGCTGCTGACCCACTACGTG c.1740
V S T L C A E A R E T A R R L L T H Y V p.580
. . . . . . g.18635
AAGGTGCAGGGCCTGGTCATATCACAGATGCTGCGCAAGAGCGTGGAGACTCGCGACTGG c.1800
K V Q G L V I S Q M L R K S V E T R D W p.600
. . . . . . g.18695
CTCAGCACTCTGGAGCCCCGGAATGTGCGGGCCGTCATGAAGCGGGTGGTGGAGGATACC c.1860
L S T L E P R N V R A V M K R V V E D T p.620
. | 08 . . . . g.19313
ACCGCCATCGACGTGCAG | GTGGGGCTCCTGTACGAAGAGGGTGTTCGCAAGGCCCAGAGC c.1920
T A I D V Q | V G L L Y E E G V R K A Q S p.640
. . . . . . g.19373
AGCGACTCCAGCAAGAGGACTTTCTCCGTGTACAGCAGCTCTCGGCAGCAGGGCCGCTAC c.1980
S D S S K R T F S V Y S S S R Q Q G R Y p.660
. . | 09 . . . . g.19523
GCCCCCAGCTATACCCCCAG | TGCCCCGATGGACACCAACCTCTTGAGCAATATCCAGAAG c.2040
A P S Y T P S | A P M D T N L L S N I Q K p.680
. . . . | 10 . g.20128
CTATTCTCTGAACGTATTGATGTGTTCAGCCCTGTGGAGTTCAACAAG | GTGTCGGTGCTG c.2100
L F S E R I D V F S P V E F N K | V S V L p.700
. . . . . . g.20188
ACCGGCATCATCAAGATCAGCCTGAAGACGCTGCTGGAGTGTGTGCGGCTGCGCACCTTT c.2160
T G I I K I S L K T L L E C V R L R T F p.720
. . . . . . g.20248
GGGCGCTTCGGGCTGCAGCAGGTGCAAGTGGACTGCCACTTTCTGCAGCTCTACCTGTGG c.2220
G R F G L Q Q V Q V D C H F L Q L Y L W p.740
. . . . . . g.20308
CGTTTTGTGGCCGACGAAGAACTCGTGCACTTGCTGCTGGACGAAGTGGTGGCCTCTGCT c.2280
R F V A D E E L V H L L L D E V V A S A p.760
. . . . . . g.20368
GCCCTGCGCTGCCCAGACCCTGTGCCCATGGAGCCCAGTGTGGTTGAGGTCATCTGCGAG c.2340
A L R C P D P V P M E P S V V E V I C E p.780
g.20377
CGCGGCTAG c.2349
R G X p.782
. . . . . . g.20437
gcgcagccgctgccatgcaccggtctgtccctgcaccccatggcacccaggatctggtct c.*60
. . . . . . g.20497
cggtggtccttccccgcaggcaggtgtcaggaccggcctaataaacatgtgtggcctcct c.*120
. . . . . . g.20557
cctctcgcttgctgggcgggcctttccgggggcggggttttgaagctgaggcttctgagg c.*180
. . . . . . g.20617
cgcccgcgtcgggtccgcccccgagcgccgattggctggtgtgctgggcccagcatgggc c.*240
. . . g.20650
agggggcggttccacttaaaaaccctgggacga c.*273
(downstream sequence)
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