(used for variant description)
(last modified December 18, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_020632.2 in the ATP6V0A4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008145.1, covering ATP6V0A4 transcript NM_020632.2.
(upstream sequence)
. . . . g.5043
ataacgctacctgccgagcaagccgagtggagggaggcaaagg c.-241
. . . . . . g.5103
ccaggctgaggatcagggtggcccgggtggcagcggggaggcgctgcatgctggaggctg c.-181
. . . . . . g.5163
tgctgagtgcccggtgcaggtgagccggtcctgcggagttgtgccgagtgcctgctgcag c.-121
| 02 . . . . . g.16996
| tctcatttccagttcctccatgacgtggcaagtgaagacaggaatgaaaggaatgtaaag c.-61
. . . . . | 03 . g.31949
cagcttttctctgaagagaagaagagagagagacacagccaag | accgaggctgggccaag c.-1
. . . . . . g.32009
ATGGTGTCTGTGTTTCGAAGCGAGGAGATGTGTTTGTCACAACTGTTTCTCCAGGTGGAA c.60
M V S V F R S E E M C L S Q L F L Q V E p.20
. . . . . | 04. g.33948
GCTGCATATTGCTGTGTGGCTGAGCTCGGAGAGCTCGGATTGGTTCAGTTCAAAGAT | TTA c.120
A A Y C C V A E L G E L G L V Q F K D | L p.40
. . . . . . g.34008
AATATGAATGTGAACAGCTTTCAAAGGAAATTTGTGAATGAAGTCAGAAGGTGTGAATCA c.180
N M N V N S F Q R K F V N E V R R C E S p.60
. | 05 . . . . . g.34366
CTGGAGAGAATCCTCC | GTTTTCTGGAAGACGAGATGCAAAATGAGATTGTAGTTCAGTTG c.240
L E R I L R | F L E D E M Q N E I V V Q L p.80
. . . . . | 06 . g.40180
CTCGAGAAAAGCCCACTGACCCCGCTCCCACGGGAAATGATTACCCTGGAG | ACTGTTCTA c.300
L E K S P L T P L P R E M I T L E | T V L p.100
. . . . . . g.40240
GAAAAACTGGAAGGAGAGTTACAGGAAGCCAACCAGAACCAGCAGGCCTTGAAACAAAGC c.360
E K L E G E L Q E A N Q N Q Q A L K Q S p.120
. . . . . | 07. g.40765
TTCCTAGAACTGACAGAACTGAAATACCTCCTGAAGAAAACCCAAGACTTCTTTGAG | ACG c.420
F L E L T E L K Y L L K K T Q D F F E | T p.140
. . . . . . g.40825
GAAACCAATTTAGCTGATGATTTCTTTACTGAGGACACTTCTGGCCTCCTGGAGTTGAAA c.480
E T N L A D D F F T E D T S G L L E L K p.160
. . . | 08 . . . g.43346
GCAGTGCCTGCATATATGACCGGAAAGTTGGG | GTTCATAGCCGGTGTGATCAACAGGGAG c.540
A V P A Y M T G K L G | F I A G V I N R E p.180
. . . . . . g.43406
AGGATGGCTTCCTTTGAGCGGTTACTGTGGCGAATCTGCCGAGGAAACGTGTACTTGAAG c.600
R M A S F E R L L W R I C R G N V Y L K p.200
. . . | 09 . . g.46677
TTCAGTGAGATGGACGCCCCTCTGGAGGATCCTGTGACG | AAAGAAGAAATTCAGAAGAAC c.660
F S E M D A P L E D P V T | K E E I Q K N p.220
. . . . . . g.46737
ATATTCATCATATTTTACCAAGGAGAGCAGCTCAGGCAGAAAATCAAGAAGATCTGTGAT c.720
I F I I F Y Q G E Q L R Q K I K K I C D p.240
| 10 . . . . . . g.47472
GG | GTTTCGAGCCACTGTCTACCCTTGCCCAGAGCCTGCGGTGGAGCGCAGAGAGATGTTG c.780
G | F R A T V Y P C P E P A V E R R E M L p.260
. . . | 11 . . . g.50383
GAGAGCGTCAATGTGAGGCTGGAAGATTTAATCACC | GTCATAACACAAACAGAGTCTCAC c.840
E S V N V R L E D L I T | V I T Q T E S H p.280
. . . . . . g.50443
CGCCAGCGCCTGCTGCAGGAAGCCGCTGCCAACTGGCACTCCTGGCTCATCAAGGTGCAG c.900
R Q R L L Q E A A A N W H S W L I K V Q p.300
. . . . . . g.50503
AAGATGAAAGCTGTCTACCACATCCTGAACATGTGCAACATCGACGTCACCCAGCAGTGT c.960
K M K A V Y H I L N M C N I D V T Q Q C p.320
. . . . . . g.50563
GTCATCGCCGAGATCTGGTTCCCGGTGGCAGATGCCACACGTATCAAGAGGGCACTGGAG c.1020
V I A E I W F P V A D A T R I K R A L E p.340
| 12 . . . . . g.53930
CAAGGCATG | GAACTAAGTGGCTCCTCCATGGCCCCCATCATGACCACAGTGCAATCTAAA c.1080
Q G M | E L S G S S M A P I M T T V Q S K p.360
. . . . . . g.53990
ACAGCCCCTCCCACATTTAACAGGACCAATAAATTCACAGCTGGCTTCCAGAATATTGTT c.1140
T A P P T F N R T N K F T A G F Q N I V p.380
. . . . | 13 . . g.55652
GATGCCTATGGTGTCGGCAGCTACCGGGAGATAAACCCAG | CCCCCTACACCATCATCACT c.1200
D A Y G V G S Y R E I N P A | P Y T I I T p.400
. . . . . . g.55712
TTCCCCTTCCTGTTCGCTGTGATGTTTGGAGACTGTGGTCATGGAACCGTGATGCTCCTG c.1260
F P F L F A V M F G D C G H G T V M L L p.420
. . . . . . g.55772
GCTGCACTTTGGATGATTCTGAATGAGAGACGCTTGCTCTCCCAGAAGACAGACAATGAG c.1320
A A L W M I L N E R R L L S Q K T D N E p.440
| 14 . . . . . . g.57976
| ATTTGGAACACCTTCTTCCACGGGCGCTATCTGATCCTACTTATGGGCATCTTCTCCATC c.1380
| I W N T F F H G R Y L I L L M G I F S I p.460
. . . . . . g.58036
TACACGGGTTTGATCTACAATGACTGCTTCTCCAAGTCCTTGAACATCTTTGGCTCTTCT c.1440
Y T G L I Y N D C F S K S L N I F G S S p.480
. . . | 15 . . g.63585
TGGAGTGTCCAACCCATGTTCAGAAACGGCACATGGAA | TACTCATGTAATGGAGGAAAGT c.1500
W S V Q P M F R N G T W N | T H V M E E S p.500
. . . . . . g.63645
CTATATCTGCAGCTGGACCCAGCCATACCAGGAGTGTATTTTGGAAATCCATACCCGTTT c.1560
L Y L Q L D P A I P G V Y F G N P Y P F p.520
. | 16 . . . . . g.68990
GGGATTGATCCG | ATTTGGAACTTGGCTTCAAACAAACTCACATTTCTGAACTCGTATAAA c.1620
G I D P | I W N L A S N K L T F L N S Y K p.540
. . . . . . g.69050
ATGAAGATGTCGGTGATCCTGGGAATTGTCCAGATGGTTTTCGGTGTCATCCTCAGCCTT c.1680
M K M S V I L G I V Q M V F G V I L S L p.560
. | 17 . . . . . g.70152
TTCAATCACAT | ATACTTCAGAAGAACTCTCAACATCATTCTGCAATTTATCCCTGAGATG c.1740
F N H I | Y F R R T L N I I L Q F I P E M p.580
. . . . . . g.70212
ATTTTTATCCTGTGTCTGTTTGGATACCTGGTTTTCATGATCATTTTCAAATGGTGCTGC c.1800
I F I L C L F G Y L V F M I I F K W C C p.600
. . . . . . g.70272
TTTGACGTCCATGTATCTCAGCACGCCCCCAGCATCCTCATCCACTTCATCAACATGTTT c.1860
F D V H V S Q H A P S I L I H F I N M F p.620
. . . . | 18 . g.74346
CTGTTTAACTACAGTGACTCTTCCAACGCACCCCTCTACAAACATCAG | CAAGAAGTCCAA c.1920
L F N Y S D S S N A P L Y K H Q | Q E V Q p.640
. . . . . . g.74406
AGTTTCTTTGTGGTTATGGCTTTGATTTCTGTGCCGTGGATGCTTCTGATTAAGCCGTTT c.1980
S F F V V M A L I S V P W M L L I K P F p.660
. . . | 19 . . . g.81201
ATTCTTAGAGCCAGTCATCGGAAATCCCAG | CTGCAGGCATCCAGGATCCAAGAAGATGCC c.2040
I L R A S H R K S Q | L Q A S R I Q E D A p.680
. . . . . . g.81261
ACTGAGAACATTGAAGGTGATAGCTCCAGCCCTTCTAGCCGTTCTGGCCAGAGGACTTCT c.2100
T E N I E G D S S S P S S R S G Q R T S p.700
. . . | 20 . . g.87336
GCAGATACCCACGGGGCTCTGGACGACCATGGAGAAGAG | TTCAACTTTGGAGACGTCTTT c.2160
A D T H G A L D D H G E E | F N F G D V F p.720
. . . . . . g.87396
GTCCACCAAGCCATCCACACCATCGAGTACTGCCTGGGCTGCATTTCAAACACAGCCTCC c.2220
V H Q A I H T I E Y C L G C I S N T A S p.740
. . . | 21. . . g.93424
TACCTGCGGCTCTGGGCCCTCAGCCTGGCTCATGCAC | AACTGTCTGAAGTGCTCTGGACT c.2280
Y L R L W A L S L A H A Q | L S E V L W T p.760
. . . . . . g.93484
ATGGTGATGAACAGCGGCCTTCAGACGCGAGGCTGGGGAGGAATCGTCGGGGTTTTTATT c.2340
M V M N S G L Q T R G W G G I V G V F I p.780
. . . . . . g.93544
ATTTTTGCCGTATTTGCTGTCCTGACAGTAGCCATCCTTCTGATCATGGAGGGCCTCTCT c.2400
I F A V F A V L T V A I L L I M E G L S p.800
. . | 22 . . . g.96510
GCTTTCCTGCACGCCCTGCGACTGCACTG | GGTTGAGTTCCAGAACAAGTTCTATGTCGGG c.2460
A F L H A L R L H W | V E F Q N K F Y V G p.820
. . . . . . g.96570
GATGGTTACAAGTTTTCTCCATTCTCCTTTAAACACATCCTGGATGGCACAGCCGAGGAG c.2520
D G Y K F S P F S F K H I L D G T A E E p.840
g.96573
TAG c.2523
X p.840
. . . . . . g.96633
gctgagggctgcacctcccacggtggtcaccatgccaatgaaggaagttcagtcttgtct c.*60
. . . . . . g.96693
ttgatatcagcccctgcaaggcgctcaatgggaaggttgttcttggctcacctgaagcat c.*120
. . . . . . g.96753
gaaactgtgtattatttggacgtcagcctgtggatttgatacgacttaaccacgtcagag c.*180
. . . . . . g.96813
gaaggactttggcaagtgatattgtcttcatgtggggtattaattctcaaataataaagt c.*240
. . . . . . g.96873
aattgacaaatgaggggagaatgctaaacagatgtcttcttgcaatattttaaatattgt c.*300
. . . g.96903
atttgagaaaataaacatctgagtcattca c.*330
(downstream sequence)
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