(used for variant description)
(last modified May 18, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001130020.1 in the ATP6V0A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047037.1, covering ATP6V0A1 transcript NM_001130020.1.
(upstream sequence)
. . . . g.5047
ggcggcgcaggggcggggctttacggacgcaagcacgtcgaagcgct c.-121
. . . . . . g.5107
gctcctggagccgcggagggtgcgggtttggctgcggtggtttctgtggcggttgctgtg c.-61
. . | 02 . . . . g.7051
gcggagtttggag | gttggagagaaatccaggtactcactagactggtaccttctgccacc c.-1
. . . . . . g.7111
ATGGGGGAGCTTTTCCGGAGTGAAGAAATGACACTGGCCCAGCTTTTTCTACAGTCAGAG c.60
M G E L F R S E E M T L A Q L F L Q S E p.20
. . . . . | 03. g.12588
GCTGCTTATTGTTGTGTCAGTGAATTAGGAGAACTTGGAAAGGTTCAGTTTCGTGAC | TTA c.120
A A Y C C V S E L G E L G K V Q F R D | L p.40
. . . . . . g.12648
AATCCAGATGTGAATGTTTTCCAACGGAAATTTGTGAATGAAGTTAGAAGATGTGAAGAA c.180
N P D V N V F Q R K F V N E V R R C E E p.60
. | 04 . . . . . g.14210
ATGGATCGAAAGCTTC | GATTTGTTGAGAAAGAGATAAGAAAAGCTAACATTCCGATTATG c.240
M D R K L R | F V E K E I R K A N I P I M p.80
. . . . . | 05 . g.16252
GACACCGGTGAAAACCCAGAGGTTCCCTTCCCCCGGGACATGATTGACTTAGAG | GCCAAT c.300
D T G E N P E V P F P R D M I D L E | A N p.100
. . . . . . g.16312
TTTGAGAAGATTGAAAATGAACTGAAGGAAATCAACACAAACCAGGAAGCTCTGAAGAGA c.360
F E K I E N E L K E I N T N Q E A L K R p.120
. . . . . . g.16372
AACTTCCTGGAACTGACCGAATTAAAATTTATACTTCGCAAAACTCAGCAATTTTTTGAT c.420
N F L E L T E L K F I L R K T Q Q F F D p.140
| 06 . . . . . . g.23852
GAG | GCTGAATTGCATCATCAGCAGATGGCGGATCCAGACTTGTTGGAAGAGTCCTCATCC c.480
E | A E L H H Q Q M A D P D L L E E S S S p.160
. . . . | 07. . g.24632
CTCTTGGAGCCAAGTGAGATGGGAAGAGGCACTCCTTTAAGACTTGG | CTTCGTGGCTGGT c.540
L L E P S E M G R G T P L R L G | F V A G p.180
. . . . . . g.24692
GTCATTAACCGGGAGCGCATCCCTACTTTTGAGCGCATGCTTTGGCGGGTATGCCGGGGA c.600
V I N R E R I P T F E R M L W R V C R G p.200
. . . . . | 08 . g.26829
AATGTGTTCCTGCGACAGGCTGAAATCGAGAACCCCCTGGAGGATCCTGTGACT | GGCGAC c.660
N V F L R Q A E I E N P L E D P V T | G D p.220
. . . . . . g.26889
TACGTGCACAAGTCTGTGTTTATCATTTTCTTCCAAGGCGATCAGCTGAAAAACAGAGTC c.720
Y V H K S V F I I F F Q G D Q L K N R V p.240
. | 09. . . . . g.29237
AAGAAAATCTGTGAAGG | GTTCCGAGCCTCACTCTATCCCTGTCCTGAGACACCACAGGAG c.780
K K I C E G | F R A S L Y P C P E T P Q E p.260
. . . . . | 10 . g.33320
AGGAAGGAAATGGCTTCTGGAGTGAATACCAGGATTGATGATCTCCAAATG | GTTCTGAAT c.840
R K E M A S G V N T R I D D L Q M | V L N p.280
. . . . . . g.33380
CAAACGGAGGATCACCGCCAGAGGGTTCTGCAGGCAGCTGCTAAGAACATCCGTGTCTGG c.900
Q T E D H R Q R V L Q A A A K N I R V W p.300
. . . . . . g.33440
TTCATCAAAGTGCGGAAGATGAAGGCCATCTATCACACCCTGAACCTGTGCAACATAGAT c.960
F I K V R K M K A I Y H T L N L C N I D p.320
. . . . . . g.33500
GTGACTCAGAAATGCTTGATTGCAGAGGTCTGGTGCCCTGTCACCGACCTTGACTCCATC c.1020
V T Q K C L I A E V W C P V T D L D S I p.340
. . | 11 . . . . g.36679
CAGTTTGCACTCAGAAGGGGCACG | GAACACAGTGGTTCCACTGTACCTTCCATTTTGAAC c.1080
Q F A L R R G T | E H S G S T V P S I L N p.360
. . . . . . g.36739
AGGATGCAGACAAACCAGACTCCCCCAACCTATAACAAAACCAACAAGTTTACCTATGGC c.1140
R M Q T N Q T P P T Y N K T N K F T Y G p.380
. . . . . | 12 . g.40495
TTTCAGAACATAGTAGATGCTTATGGAATTGGAACTTACCGAGAGATAAATCCAG | CTCCG c.1200
F Q N I V D A Y G I G T Y R E I N P A | P p.400
. . . . . . g.40555
TATACTATTATCACGTTCCCTTTTCTATTTGCTGTGATGTTTGGAGACTTCGGTCATGGC c.1260
Y T I I T F P F L F A V M F G D F G H G p.420
. . . . . . g.40615
ATTTTAATGACCCTTTTTGCTGTGTGGATGGTACTGAGGGAGAGCCGGATCCTTTCCCAG c.1320
I L M T L F A V W M V L R E S R I L S Q p.440
. | 13 . . . . . g.41235
AAGAATGAGAATGAG | ATGTTTAGCACTGTGTTCAGTGGTCGATACATTATTTTATTGATG c.1380
K N E N E | M F S T V F S G R Y I I L L M p.460
. . . . . . g.41295
GGTGTGTTCTCCATGTACACTGGCCTCATCTACAATGATTGCTTTTCCAAGTCTCTTAAT c.1440
G V F S M Y T G L I Y N D C F S K S L N p.480
. . . . . | 14 . g.41792
ATCTTTGGGTCATCCTGGAGTGTACGGCCGATGTTTACTTATAATTGGAC | TGAAGAGACG c.1500
I F G S S W S V R P M F T Y N W T | E E T p.500
. . . . . . g.41852
CTTCGGGGGAACCCTGTTCTACAGCTGAACCCAGCCCTCCCTGGAGTGTTTGGTGGACCA c.1560
L R G N P V L Q L N P A L P G V F G G P p.520
. . | 15 . . . . g.45119
TACCCTTTTGGCATTGATCCA | ATTTGGAACATTGCTACCAATAAACTGACGTTCTTGAAC c.1620
Y P F G I D P | I W N I A T N K L T F L N p.540
. . . . . . g.45179
TCCTTTAAGATGAAGATGTCTGTTATCCTTGGTATCATCCATATGCTGTTTGGAGTCAGC c.1680
S F K M K M S V I L G I I H M L F G V S p.560
. . | 16 . . . . g.46903
CTGAGTCTGTTCAACCATAT | CTATTTCAAGAAGCCCCTGAATATCTACTTTGGATTTATT c.1740
L S L F N H I | Y F K K P L N I Y F G F I p.580
. . . . . . g.46963
CCTGAAATAATCTTCATGACCTCTTTGTTTGGCTATTTGGTTATCCTTATTTTTTACAAG c.1800
P E I I F M T S L F G Y L V I L I F Y K p.600
. . . . . . g.47023
TGGACGGCCTATGATGCTCATACCTCTGAGAATGCACCAAGCCTTCTGATCCATTTCATA c.1860
W T A Y D A H T S E N A P S L L I H F I p.620
. . . . . | 17. g.47356
AACATGTTCCTCTTTTCCTACCCAGAGTCTGGTTATTCAATGTTGTATTCTGGACAG | AAA c.1920
N M F L F S Y P E S G Y S M L Y S G Q | K p.640
. . . . . . g.47416
GGAATTCAGTGTTTCCTGGTAGTGGTTGCACTACTGTGTGTACCTTGGATGCTGCTGTTT c.1980
G I Q C F L V V V A L L C V P W M L L F p.660
. . . . | 18 . . g.53691
AAACCATTGGTCCTTCGCCGTCAGTATTTGAGGAGAAAGCATTTG | GGAACTCTCAACTTT c.2040
K P L V L R R Q Y L R R K H L | G T L N F p.680
. . . . . . g.53751
GGTGGGATCAGGGTGGGCAACGGACCGACAGAGGAGGATGCTGAGATTATTCAGCATGAC c.2100
G G I R V G N G P T E E D A E I I Q H D p.700
. . . | 19 . . . g.60044
CAGCTCTCCACCCACTCAGAGGACGCAGACGAG | TTTGACTTTGGGGACACCATGGTCCAC c.2160
Q L S T H S E D A D E | F D F G D T M V H p.720
. . . . . . g.60104
CAGGCCATCCACACCATCGAGTACTGCCTGGGCTGCATCTCCAACACTGCCTCCTACTTG c.2220
Q A I H T I E Y C L G C I S N T A S Y L p.740
. . . | 20 . . . g.60474
CGGCTCTGGGCCCTCAGCCTCGCTCATGCGC | AGCTGTCTGAGGTGCTTTGGACCATGGTG c.2280
R L W A L S L A H A Q | L S E V L W T M V p.760
. . . . . . g.60534
ATCCACATCGGCCTGAGCGTGAAGAGCTTGGCGGGAGGTTTGGTGCTGTTCTTCTTCTTC c.2340
I H I G L S V K S L A G G L V L F F F F p.780
. . . . . . g.60594
ACTGCCTTTGCCACCCTGACCGTGGCCATCCTCCTGATCATGGAGGGCCTCTCGGCCTTT c.2400
T A F A T L T V A I L L I M E G L S A F p.800
. . | 21 . . . . g.67220
CTCCACGCACTGCGCTTACACTG | GGTTGAGTTCCAGAATAAATTCTACAGCGGGACCGGT c.2460
L H A L R L H W | V E F Q N K F Y S G T G p.820
. . . . . g.67277
TTCAAGTTCTTACCCTTCTCCTTCGAGCATATTCGGGAAGGGAAGTTTGAAGAGTGA c.2517
F K F L P F S F E H I R E G K F E E X p.838
. . . . . . g.67337
gtccctgtgagggccgtgtgccccatgctaccctccccgcctccctccacagtgatcagc c.*60
. . . . . . g.67397
tgtgcctctctgcctgttggttgtgatctgtgggcaccagctcattcgtgtcaccctgtc c.*120
. . . . . . g.67457
tgtgagtcatttagatagaatagtcctccttgggtctcccaccacccctagctttgtgtg c.*180
. . . . . . g.67517
tagtgtagtgattttctggctgtcactcatactcactgggcaccagccttgccctcttag c.*240
. . . . . . g.67577
cctccatccatccagacagcccttcccacctcctggtggtgagccagtctgcattcccac c.*300
. . . . . . g.67637
gccatcccaaagccctttcatcttccccgtgcattgtagatggaaggagcacccatgcca c.*360
. . . . . . g.67697
ttcacatctagactttgagttccctgcatctgccaccgtagtttctagcaggagtagtgg c.*420
. . . . . . g.67757
ggggagtaatacagattcttccctagaaggggacactggtaacatgtcccactcttggat c.*480
. . . . . . g.67817
tagcaggggtgggtccaggaagatgatatttgcgtcttttgcccacccccctggcattca c.*540
. . . . . . g.67877
gctggacccaactaggccatcatgagtggcttctccctgtcatccccaggggtcatagga c.*600
. . . . . . g.67937
tatctacaccgcctttctgaccccaccctgcactcccatcctttcctctctccccgttca c.*660
. . . . . . g.67997
tgccctgcactacatagcacagccgggatgcttggaacagaggccttggctgctccgcag c.*720
. . . . . . g.68057
tgcacagggcttccctctctcggggttggcttcttcccaggccttgcatgggccctgccc c.*780
. . . . . . g.68117
acaagcacaccctcaggccgagggtgcagactgatgctcttccctgatggagaccctgag c.*840
. . . . . . g.68177
atcttccccacccccaatcatgatgtcttcagtgtgggactggggtcctcttggttctgc c.*900
. . . . . . g.68237
ctgcagcctgcctggctccgcccctagtgccccctcctcaccacactggccccaggtctc c.*960
. . . . . . g.68297
aggaggggtgtcctgggcagggaaggtcagtgtcactgatggtttgctgtttggaagcca c.*1020
. . . . . . g.68357
ttggcagggctgccgtgcatgtggctgtgagggctgcacagtcctgccaaggggcttcct c.*1080
. . . . . . g.68417
ccttgtcaccccgaaccttgtaatcgtgtgctggcgtggcagccctggctaagttaatcc c.*1140
. . . . . . g.68477
ccaccgctttcagtggtagaaagaattccctgagtgggccaggctggtgccctcctccta c.*1200
. . . . . . g.68537
ccctggcttttctgagtgagctgcctggagccctcatcccctctcccaggctgggctggc c.*1260
. . . . . . g.68597
cctgggcggggccactgtgtgctggcccactgtgacctgacccgaccttgtgcagccccc c.*1320
. . . . . . g.68657
ctgccctggtgtcctgggttttcgtgatgatctttgctctgtttccagtggggtttgaag c.*1380
. . . . . . g.68717
cagagttcagggaaccctgcccaaggtcctcctgttcagacattcctatgttgaataaag c.*1440
. g.68736
tatgtttgacttccccgga c.*1459
(downstream sequence)
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