(used for variant description)
(last modified June 27, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_006045.1 in the ATP9A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering ATP9A transcript NM_006045.1.
(upstream sequence)
. . . . . . g.60
ATGACGGACAACATCCCGCTGCAGCCGGTGCGCCAGAAGAAGCGGATGGACAGCAGGCCC c.60
M T D N I P L Q P V R Q K K R M D S R P p.20
| 02 . . . . . g.38443
CGCGCCGG | GTGCTGCGAGTGGCTGAGATGCTGCGGTGGAGGGGAGGCCAGGCCCCGCACT c.120
R A G | C C E W L R C C G G G E A R P R T p.40
. . . . . . g.38503
GTCTGGCTGGGGCACCCCGAGAAGAGAGACCAGAGGTATCCTCGGAATGTCATCAACAAT c.180
V W L G H P E K R D Q R Y P R N V I N N p.60
. . . | 03 . . . g.42464
CAGAAGTACAATTTCTTCACCTTTCTTCCTGGG | GTGCTGTTCAACCAGTTCAAATACTTT c.240
Q K Y N F F T F L P G | V L F N Q F K Y F p.80
. . . . . . g.42524
TTCAACCTCTATTTCTTACTTCTTGCCTGCTCTCAGTTTGTTCCCGAAATGAGACTTGGT c.300
F N L Y F L L L A C S Q F V P E M R L G p.100
. . | 04. . . . g.55328
GCACTCTATACCTACTGGGTTCCCCTG | GGCTTCGTGCTGGCCGTCACTGTCATCCGTGAG c.360
A L Y T Y W V P L | G F V L A V T V I R E p.120
. . . . . . g.55388
GCGGTGGAGGAGATCCGATGCTACGTGCGGGACAAGGAAGTCAACTCCCAGGTCTACAGC c.420
A V E E I R C Y V R D K E V N S Q V Y S p.140
. | 05 . . . . . g.70931
CGGCTCACAGCACGAG | GCACAGTGAAGGTGAAGAGTTCTAACATCCAAGTTGGAGACCTT c.480
R L T A R G | T V K V K S S N I Q V G D L p.160
. | 06 . . . . . g.72270
ATCATCGTTGAAAAG | AACCAGCGGGTCCCTGCCGACATGATCTTCCTGAGGACATCAGAA c.540
I I V E K | N Q R V P A D M I F L R T S E p.180
| 07. . . . . . g.74320
AAAAACG | GGTCATGCTTCTTGCGGACGGATCAGCTGGATGGGGAGACGGACTGGAAGCTG c.600
K N G | S C F L R T D Q L D G E T D W K L p.200
. . . . | 08 . . g.77568
CGGCTTCCCGTGGCCTGCACGCAGAGGCTCCCCACGGCCGCC | GACCTTCTTCAGATTCGA c.660
R L P V A C T Q R L P T A A | D L L Q I R p.220
. . . . . . g.77628
TCGTATGTGTACGCAGAAGAGCCAAATATTGACATTCACAACTTCGTGGGAACTTTTACC c.720
S Y V Y A E E P N I D I H N F V G T F T p.240
| 09 . . . . . . g.79287
CGA | GAAGACAGCGACCCCCCGATCAGCGAGAGCCTGAGCATAGAGAACACGCTGTGGGCT c.780
R | E D S D P P I S E S L S I E N T L W A p.260
. | 10 . . . . g.92202
GGCACTGTGGTCGCATCAG | GTACTGTTGTGGGTGTTGTTCTTTACACTGGCAGAGAACTC c.840
G T V V A S G | T V V G V V L Y T G R E L p.280
. . . | 11 . . . g.94080
CGGAGTGTCATGAATACCTCAAATCCCCGAAGTAAG | ATCGGCCTGTTCGACTTGGAAGTG c.900
R S V M N T S N P R S K | I G L F D L E V p.300
. . . . . . g.94140
AACTGCCTCACCAAGATCCTCTTTGGTGCCCTGGTGGTGGTCTCGCTGGTCATGGTTGCC c.960
N C L T K I L F G A L V V V S L V M V A p.320
. . . . . . g.94200
CTTCAGCACTTTGCAGGCCGTTGGTACCTGCAGATCATCCGCTTCCTCCTCTTGTTTTCC c.1020
L Q H F A G R W Y L Q I I R F L L L F S p.340
. | 12. . . . . g.97155
AACATCATCCCCATTAG | TTTGCGTGTGAACCTGGACATGGGCAAGATCGTGTACAGCTGG c.1080
N I I P I S | L R V N L D M G K I V Y S W p.360
. . . . . . g.97215
GTGATTCGAAGGGACTCGAAAATCCCCGGGACCGTGGTTCGCTCCAGCACGATTCCTGAG c.1140
V I R R D S K I P G T V V R S S T I P E p.380
. . . . | 13 . . g.98280
CAGCTGGGCAGGATTTCGTACTTACTCACAGACAAGACAG | GCACTCTTACCCAGAACGAG c.1200
Q L G R I S Y L L T D K T G | T L T Q N E p.400
. . . . . . g.98340
ATGATTTTCAAACGGCTCCATCTCGGAACAGTAGCCTACGGCCTCGACTCAATGGACGAA c.1260
M I F K R L H L G T V A Y G L D S M D E p.420
. . . | 14 . . . g.111246
GTACAAAGCCACATTTTCAGCATTTACACCCAG | CAATCCCAGGACCCACCGGCTCAGAAG c.1320
V Q S H I F S I Y T Q | Q S Q D P P A Q K p.440
. . . . . . g.111306
GGCCCAACGCTCACCACTAAGGTCCGGCGGACCATGAGCAGCCGCGTGCACGAAGCCGTG c.1380
G P T L T T K V R R T M S S R V H E A V p.460
. . . . . . g.111366
AAGGCCATCGCGCTCTGCCACAACGTGACTCCCGTGTATGAGTCCAACGGTGTGACTGAT c.1440
K A I A L C H N V T P V Y E S N G V T D p.480
. . . . . . g.111426
CAGGCTGAGGCCGAGAAGCAGTACGAAGACTCCTGCCGCGTATACCAGGCATCCAGCCCC c.1500
Q A E A E K Q Y E D S C R V Y Q A S S P p.500
| 15 . . . . . . g.128919
GATGAG | GTGGCCCTGGTACAGTGGACGGAAAGTGTGGGCTTAACCCTGGTGGGCCGAGAC c.1560
D E | V A L V Q W T E S V G L T L V G R D p.520
. . . . . . g.128979
CAGTCTTCCATGCAGCTGAGGACCCCTGGCGACCAGATCCTGAACTTCACCATCCTACAG c.1620
Q S S M Q L R T P G D Q I L N F T I L Q p.540
. . . . | 16 . g.139309
ATCTTCCCTTTCACCTATGAAAGCAAACGTATGGGCATCATCGTGCGG | GATGAATCAACT c.1680
I F P F T Y E S K R M G I I V R | D E S T p.560
. . . . . . g.139369
GGAGAAATTACGTTTTACATGAAGGGAGCAGATGTGGTCATGGCTGGCATTGTGCAGTAC c.1740
G E I T F Y M K G A D V V M A G I V Q Y p.580
. . | 17 . . . . g.140725
AATGACTGGTTGGAGGAAGAG | TGTGGCAACATGGCCCGAGAAGGGCTGCGGGTGCTCGTG c.1800
N D W L E E E | C G N M A R E G L R V L V p.600
. . . . | 18 . . g.143022
GTGGCAAAGAAGTCTCTTGCAGAGGAGCAGTATCAGGACTTTGAA | GCCCGCTACGTCCAG c.1860
V A K K S L A E E Q Y Q D F E | A R Y V Q p.620
. . . . . . g.143082
GCCAAGCTGAGTGTGCACGACCGCTCCCTCAAAGTGGCCACGGTGATCGAGAGCCTGGAG c.1920
A K L S V H D R S L K V A T V I E S L E p.640
. . . . . . g.143142
ATGGAGATGGAACTGCTGTGCCTGACGGGCGTGGAGGACCAGCTGCAGGCAGATGTGCGG c.1980
M E M E L L C L T G V E D Q L Q A D V R p.660
. . . | 19 . . . g.146221
CCCACGCTGGAGACCCTGAGGAATGCTGGCATCAAG | GTTTGGATGCTGACAGGGGACAAG c.2040
P T L E T L R N A G I K | V W M L T G D K p.680
. . . . . . g.146281
CTGGAGACAGCTACGTGCACAGCGAAGAATGCACATCTGGTGACCAGAAACCAAGACATC c.2100
L E T A T C T A K N A H L V T R N Q D I p.700
. | 20 . . . . . g.149371
CACGTTTTTCGGCTG | GTGACCAACCGCGGGGAGGCTCACCTCGAGCTGAACGCCTTCCGC c.2160
H V F R L | V T N R G E A H L E L N A F R p.720
. . . . | 21 . . g.149578
AGGAAGCATGATTGTGCCCTGGTCATCTCGGGAGACTCCCTGGAG | GTTTGCCTCAAGTAC c.2220
R K H D C A L V I S G D S L E | V C L K Y p.740
. . . . . . g.149638
TATGAGTACGAGTTCATGGAGCTGGCCTGCCAGTGCCCGGCCGTAGTCTGCTGCCGATGT c.2280
Y E Y E F M E L A C Q C P A V V C C R C p.760
. . . . . . g.149698
GCCCCCACCCAGAAGGCCCAGATCGTGCGCCTGCTTCAGGAGCGCACGGGCAAGCTCACC c.2340
A P T Q K A Q I V R L L Q E R T G K L T p.780
. | 22 . . . . . g.150865
TGTGCAGTAG | GGGACGGAGGCAATGACGTCAGCATGATTCAGGAATCTGACTGCGGCGTG c.2400
C A V G | D G G N D V S M I Q E S D C G V p.800
. | 23 . . . . . g.154582
GGAGTGGAAGGAAAG | GAAGGAAAACAGGCTTCGTTGGCTGCAGACTTCTCCATCACTCAA c.2460
G V E G K | E G K Q A S L A A D F S I T Q p.820
. . . . . . g.154642
TTTAAGCATCTTGGCCGGTTGCTTATGGTGCATGGCCGGAACAGCTACAAGCGGTCAGCC c.2520
F K H L G R L L M V H G R N S Y K R S A p.840
. . . . . | 24 . g.158213
GCCCTCAGCCAGTTCGTGATTCACAGGAGCCTCTGTATCAGCACCATGCAG | GCTGTCTTT c.2580
A L S Q F V I H R S L C I S T M Q | A V F p.860
. . . . . | 25 . g.159747
TCCTCCGTGTTTTACTTTGCCTCCGTCCCTCTCTATCAAGGATTCCTCATCATTGG | GTAC c.2640
S S V F Y F A S V P L Y Q G F L I I G | Y p.880
. . . . . . g.159807
TCCACAATTTACACCATGTTTCCTGTGTTTTCTCTGGTCCTGGACAAAGATGTCAAATCG c.2700
S T I Y T M F P V F S L V L D K D V K S p.900
. . . . | 26 . . g.160800
GAAGTTGCCATGCTGTATCCTGAGCTCTACAAGGATCTTCTCAAG | GGACGGCCGTTGTCC c.2760
E V A M L Y P E L Y K D L L K | G R P L S p.920
. . . . | 27 . . g.163366
TACAAGACATTCTTAATATGGGTTTTGATTAGCATCTATCAAG | GGAGCACCATCATGTAC c.2820
Y K T F L I W V L I S I Y Q G | S T I M Y p.940
. . . . . . g.163426
GGGGCGCTGCTGCTGTTTGAGTCGGAGTTCGTGCACATCGTGGCCATCTCCTTCACCTCG c.2880
G A L L L F E S E F V H I V A I S F T S p.960
. . . . . . g.163486
CTGATCCTCACCGAGCTGCTCATGGTGGCGCTGACCATCCAGACCTGGCACTGGCTCATG c.2940
L I L T E L L M V A L T I Q T W H W L M p.980
. . . . . . g.163546
ACAGTGGCGGAGCTGCTCAGCCTGGCCTGCTACATCGCCTCCCTGGTGTTCTTACACGAG c.3000
T V A E L L S L A C Y I A S L V F L H E p.1000
| 28. . . . . . g.167075
TTCATCG | ATGTGTACTTCATCGCCACCTTGTCATTCTTGTGGAAAGTCTCCGTCATCACT c.3060
F I D | V Y F I A T L S F L W K V S V I T p.1020
. . . . . . g.167135
CTGGTCAGCTGCCTCCCCCTCTATGTCCTCAAGTACCTGCGAAGACGGTTCTCTCCCCCC c.3120
L V S C L P L Y V L K Y L R R R F S P P p.1040
. . g.167159
AGCTACTCAAAGCTCACATCATAG c.3144
S Y S K L T S X p.1047
. . . . . . g.167219
gccgtgcgttcgctggagggggccctggtcttggcgcttccctgatggacagagctcaag c.*60
. . . . . . g.167279
ttccatttatattaaccgccacctgtggattttgcagtaattgctaacacatgcagtttt c.*120
. . . . . . g.167339
aatgggaagtggctctgcgcctaaacggagtcctaacgctgcatcaacgggagggagggt c.*180
. . . . . . g.167399
cctgaaagagacccatctgggcctgtctgaacccctcgttcttcatgtttaggtgaatat c.*240
. . . . . . g.167459
gaatatgttaaagctggtggctcagctgggagatttatatgggtcactgtgcgagcttcc c.*300
. . . . . . g.167519
ttatgacttgaattttgttgtcacatgataaaagtttctgtgtagctgaaggttgtagaa c.*360
. . . . . . g.167579
ggcttgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtgtttttaaagagtcctaat c.*420
. . . . . . g.167639
gtgtatgtactctttatgtctttcttgctcttacaaagaggtgtcagaaaaatagaaagc c.*480
. . . . . . g.167699
tcttggtgtcggtttgggaggaaaagacagtgacatttggtaaaaagttatccacacaat c.*540
. . . . . . g.167759
aatctccattcggaaatgctcagtatcgtctccagccagccctgcttatccaggttacac c.*600
. . . . . . g.167819
tggattcctgggatcgtaaccagtaaatgagaggagagggagagagagtgtcctaagtcc c.*660
. . . . . . g.167879
aatctgttatccttgatctgattcagcatccatagtgtgtgagttaacttcacctgccac c.*720
. . . . . . g.167939
ctcgtaaaagaatttcagaggtgtgatcccgctttattgggacctggtaacaatcacaaa c.*780
. . . . . . g.167999
gccagtggctgtttgagaaggacctcagacattttcagcagagttgttttagcaggaaac c.*840
. . . . . . g.168059
gtgccactgaatggcccctaaatgtgtcgacagtgtgataagagactcaactaattcttt c.*900
. . . . . . g.168119
aggcaacatggcagatgtgactcagatcctccaagaccaaagcggaaaggtcagggggct c.*960
. . . . . . g.168179
gggactcttctcttccatagaagcctgtttcctgttaggaggcataatggaagatgaccc c.*1020
. . . . . . g.168239
cacaaaggcagaggcatctttcggaacaacactggtggcagctttcagaacaaggaaccc c.*1080
. . . . . . g.168299
ctggtgggaggacgcccaagctacagcgttgggatctgggatctgttccactgccggcag c.*1140
. . . . . . g.168359
atttcaaggggaacttgctgaaaggcagccagtggtgaagatttctcccctcccaggatg c.*1200
. . . . . . g.168419
gactacatgccggcatgtttcttataaagctgtggctgcttgtttcagaggaagggagtt c.*1260
. . . . . . g.168479
tgcagtcgcgggacgtggtagagcaaggcattcttgggttttcaagttgcttcttgcaga c.*1320
. . . . . . g.168539
agccacatatgcatgccataagggttaagttggtggatctttaagagccaagtgtggttg c.*1380
. . . . . . g.168599
agatcttggatttgcgtttacttcttgatgaatacatatccttcaaaccctctgcctggc c.*1440
. . . . . . g.168659
gctacttctgtgtgcttcagagatgtacatcacagcctggtttctgatgcctactaactc c.*1500
. . . . . . g.168719
ctgctcttggagagctggagacacgaggatcagatagtcccttgcctttggagcactctt c.*1560
. . . . . . g.168779
gataagcttttgtattttgtgttgtccttttaaaatgttctagaatgactttacgttgca c.*1620
. . . . . . g.168839
ggtactggttaattggctgttgacaccacatctattttgtcttatgattctgcagttttg c.*1680
. . . . . . g.168899
cagtacttttctctatctgattcagccatttctgccagagggaaaaggtcggcagaaaag c.*1740
. . . . . . g.168959
atgtattgagtgaatagttaaggataggatctttgtccaaaaatttcagaaagattgagc c.*1800
. . . . . . g.169019
aaatctgacgtattcattgagtgagtttctgtgttttcaaaggtggaggagaaatttgtg c.*1860
. . . . . . g.169079
ctggaagtttttaagcctccgttttcttggaaatcagtctgtaacactggcaagtcttaa c.*1920
. . . . . . g.169139
gatagtcccatttagactttgcagatgctgaacctggctctgtaacgctgggaagtctta c.*1980
. . . . . . g.169199
agatagtcctgtttagactttgcaaaccctgtacctggctttgctcggagattcgggatg c.*2040
. . . . . . g.169259
ctggctcctgcaggcagggcgtgtgggagcctcgtcagaaagttttagaggtttccagca c.*2100
. . . . . . g.169319
gaagcagaatgaagatggtctccctggccttttccttaattctcaattttgattgaggtg c.*2160
. . . . . . g.169379
cacaagttgacttttaaagccaacgcttaagatactgattgacatcttcaagggagaatg c.*2220
. . . . . . g.169439
ctcccaggaggggctgaagaagccatagttggaagtggaaggtactcgtcagtgttctcc c.*2280
. . . . . . g.169499
acaaacctttttactctgttgtctcagccgcactggggcggaggcggtcaagggtgagaa c.*2340
. . . . . . g.169559
gtaccgacactcaagtgcaaactgccacgtcgttggcccatcccatcagtgggcagctgg c.*2400
. . . . . . g.169619
ctgacgccattcactggacggtccctgaacacctaggaatgcacacaccgtgcttctcag c.*2460
. . . . . . g.169679
acactggagacgcaaaggcaggaggatgcagtccggtgagaggacacgatctttacctgc c.*2520
. . . . . . g.169739
acaatcagactgtaagcccagcagagaaccccaggggcgcctgggtacttctcggaggtc c.*2580
. . . . . . g.169799
atcttagttgtggtggggaagacaaagaaataagcaaacaagaaactagagttactatac c.*2640
. . . . . . g.169859
aagaaactctcctgagtttgtaaaccttaagcataaggattcagttgacctttttcttgg c.*2700
. . . . . . g.169919
ttcatcaatctggaaagaacttacataaagcgccattgacactgtcacctgggagctcca c.*2760
. . . . . . g.169979
tgggccgtaagtctttgacagccaatttaatttgaggtcagagggccttgaggtacacag c.*2820
. . . . . . g.170039
tcagcactgtttgaacacttttcctgaaagcaaaactcacagctccctgcgccctctgac c.*2880
. . . . . . g.170099
aacactagctatttctgccagagtaagaacttctattactattttattattgttcatatg c.*2940
. . . . . . g.170159
tcttttgatgatggttgtgtgacagggggaagcaggatctatttggtttcttcccctccc c.*3000
. . . . . . g.170219
cccaccccttcctttttgtctctctttttttttctctaagaaaatcaccagactagtttt c.*3060
. . . . . . g.170279
tccatcttgagtaatttcttatgtgggacagttttgatcctcattttgaaagcatgcgtg c.*3120
. . . . . . g.170339
tgcacatgtgtgttgcctgtggtgccaggtgagacaggtggcactaactccagctgcttg c.*3180
. . . . . . g.170399
gaaggcatcccaagggcgcatcttaaagttggagcagacctcccttttccagcccctggg c.*3240
. . . . . . g.170459
gccattagaccacgtgctggaactagcattgtaaaattcccatcccagttccactcccct c.*3300
. . . . . . g.170519
gaagtgaaacccttttttttttgtgacagtaaatcttaaaaatcattgtctctttatgaa c.*3360
. . . . . . g.170579
catttcctcagtttcttctctgctgaaaatgtaagccatgctactttttaatgtattttg c.*3420
. . . . . . g.170639
aattttgtgctcattggaaattgatatgctaatgcctcccccaccccccgccagactttt c.*3480
. . . . . . g.170699
ctttttatactttgtcttgtttttactggggtaggctgggcatgcgtgcgtgcctttagg c.*3540
. . . . . . g.170759
gcagcattttaaacctttgccaaaattgcaaatgggacatgtacattcttctgctccatc c.*3600
. . . . . . g.170819
ctacttaaacacctatcagctatttttatctttaaccttttctgtatgtttgaagtgtgt c.*3660
. . . . . . g.170879
ggggggtgtgtgtgtgtgtgaaagagcgagagaatgatgtcatctaaagttttttgaaga c.*3720
. . . . . . g.170939
attatttggttttcattgcattaaaattctatcactcccagctttgttttcatttaaaaa c.*3780
. . . . . . g.170999
aatatacaaagagctttgtaaatacaacacattttatttctcccccttcttttaatgtac c.*3840
. . . . . . g.171059
agcttttttgccacttatatatacttaaaatattcccatgaattatgtccagttcttctt c.*3900
. . . . . . g.171119
ggaaaaaaatttggttttgaatgaacctgcaaagcatcctgcagcgtgagcagctcctcc c.*3960
. . . . . . g.171179
acctggagctccgaagcatcttctcaggccaaagcggcattacccgtgaatctgtcttct c.*4020
. . . . . . g.171239
ccgccacagcatggtttgaggcgcagtctgttaatatagctgggccatgtcagtgactgt c.*4080
. . . . . . g.171299
tgtgtttgtggggtcaggtggggggcatggtatttgcaaaaaaaacaaattatggctaat c.*4140
. . . . . . g.171359
ttattattttgttgcagtggggttaactgtaaactcatgtaagagtctgtgatttcctca c.*4200
. . . . . . g.171419
ttggttgatctctctctctgtaatcctcattgcaaattttcaccaggacagcgttttttg c.*4260
. . . . . . g.171479
attagaggggagctctggcacagtatgctttaatttagcaggaacttccagatgatttaa c.*4320
. . . . . . g.171539
attctcgatgctgtgatgacacacatatgatctttcgtgtttctgagcgactctactttc c.*4380
. . . . . g.171595
attgtttgccagcgtggctcgttgctgttgcccaataaagcttgtgtacgttctgc c.*4436
(downstream sequence)
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