(used for variant description)
(last modified March 25, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000701.7 in the ATP1A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047036.1, covering ATP1A1 transcript NM_000701.7.
(upstream sequence)
. . . g.6027
gacgtttcgcggcgtgggcggggccagcacgcaggttgc c.-301
. . . . . . g.6087
atattttaggaagtgaggaggaggcgcgggctggagctgcggcggggtctggggcgcaga c.-241
. . . . . . g.6147
gcagcggcgggaggaggcggacacgtggcaacagcggtagcagcccgggcggcggcagca c.-181
. . . . . . g.6207
acagcggcggcggcatcggcccgagccgccggccgccctcccaccctcccgccccgcggc c.-121
. . . . . . g.6267
agccctagctccctccacttggctcccctggtcccgctcgctcggccgggagctgctctg c.-61
. . . . . . g.6327
tgcttttctctctgattctccagcgacaggacccggcgccgggcactgagcaccgccacc c.-1
. | 02 . . . . . g.16877
ATGGGGAAGGGG | GTTGGACGTGATAAGTATGAGCCTGCAGCTGTTTCAGAACAAGGTGAT c.60
M G K G | V G R D K Y E P A A V S E Q G D p.20
. . . . . . g.16937
AAAAAGGGCAAAAAGGGCAAAAAAGACAGGGACATGGATGAACTGAAGAAAGAAGTTTCT c.120
K K G K K G K K D R D M D E L K K E V S p.40
| 03 . . . . . . g.17655
ATG | GATGATCATAAACTTAGCCTTGATGAACTTCATCGTAAATATGGAACAGACTTGAGC c.180
M | D D H K L S L D E L H R K Y G T D L S p.60
| 04 . . . . . . g.20160
CGG | GGATTAACATCTGCTCGTGCAGCTGAGATCCTGGCGCGAGATGGTCCCAACGCCCTC c.240
R | G L T S A R A A E I L A R D G P N A L p.80
. . . . . . g.20220
ACTCCCCCTCCCACTACTCCTGAATGGATCAAGTTTTGTCGGCAGCTCTTTGGGGGGTTC c.300
T P P P T T P E W I K F C R Q L F G G F p.100
. . . . . . g.20280
TCAATGTTACTGTGGATTGGAGCGATTCTTTGTTTCTTGGCTTATAGCATCCAAGCTGCT c.360
S M L L W I G A I L C F L A Y S I Q A A p.120
. . | 05. . . . g.20979
ACAGAAGAGGAACCTCAAAACGATAAT | CTGTACCTGGGTGTGGTGCTATCAGCCGTTGTA c.420
T E E E P Q N D N | L Y L G V V L S A V V p.140
. . . . . . g.21039
ATCATAACTGGTTGCTTCTCCTACTATCAAGAAGCTAAAAGTTCAAAGATCATGGAATCC c.480
I I T G C F S Y Y Q E A K S S K I M E S p.160
. . | 06 . . . . g.21492
TTCAAAAACATGGTCCCTCAG | CAAGCCCTTGTGATTCGAAATGGTGAGAAAATGAGCATA c.540
F K N M V P Q | Q A L V I R N G E K M S I p.180
. . . . . . g.21552
AATGCGGAGGAAGTTGTGGTTGGGGATCTGGTGGAAGTAAAAGGAGGAGACCGAATTCCT c.600
N A E E V V V G D L V E V K G G D R I P p.200
. . . | 07 . . . g.21741
GCTGACCTCAGAATCATATCTGCAAATGGCTGCAAG | GTGGATAACTCCTCGCTCACTGGT c.660
A D L R I I S A N G C K | V D N S S L T G p.220
. . . . . . g.21801
GAATCAGAACCCCAGACTAGGTCTCCAGATTTCACAAATGAAAACCCCCTGGAGACGAGG c.720
E S E P Q T R S P D F T N E N P L E T R p.240
. . . | 08 . . . g.22280
AACATTGCCTTCTTTTCAACCAATTGTGTTGAAG | GCACCGCACGTGGTATTGTTGTCTAC c.780
N I A F F S T N C V E G | T A R G I V V Y p.260
. . . . . . g.22340
ACTGGGGATCGCACTGTGATGGGAAGAATTGCCACACTTGCTTCTGGGCTGGAAGGAGGC c.840
T G D R T V M G R I A T L A S G L E G G p.280
. . . . . . g.22400
CAGACCCCCATTGCTGCAGAAATTGAACATTTTATCCACATCATCACGGGTGTGGCTGTG c.900
Q T P I A A E I E H F I H I I T G V A V p.300
. . . . . . g.22460
TTCCTGGGTGTGTCTTTCTTCATCCTTTCTCTCATCCTTGAGTACACCTGGCTTGAGGCT c.960
F L G V S F F I L S L I L E Y T W L E A p.320
. . . . . . g.22520
GTCATCTTCCTCATCGGTATCATCGTAGCCAATGTGCCGGAAGGTTTGCTGGCCACTGTC c.1020
V I F L I G I I V A N V P E G L L A T V p.340
| 09 . . . . . . g.23085
ACG | GTCTGTCTGACACTTACTGCCAAACGCATGGCAAGGAAAAACTGCTTAGTGAAGAAC c.1080
T | V C L T L T A K R M A R K N C L V K N p.360
. . . . . . g.23145
TTAGAAGCTGTGGAGACCTTGGGGTCCACGTCCACCATCTGCTCTGATAAAACTGGAACT c.1140
L E A V E T L G S T S T I C S D K T G T p.380
. . . . . . g.23205
CTGACTCAGAACCGGATGACAGTGGCCCACATGTGGTTTGACAATCAAATCCATGAAGCT c.1200
L T Q N R M T V A H M W F D N Q I H E A p.400
. . | 10 . . . . g.23635
GATACGACAGAGAATCAGAGTG | GTGTCTCTTTTGACAAGACTTCAGCTACCTGGCTTGCT c.1260
D T T E N Q S G | V S F D K T S A T W L A p.420
. . . . . . g.23695
CTGTCCAGAATTGCAGGTCTTTGTAACAGGGCAGTGTTTCAGGCTAACCAGGAAAACCTA c.1320
L S R I A G L C N R A V F Q A N Q E N L p.440
. | 11 . . . . . g.25717
CCTATTCTTAAG | CGGGCAGTTGCAGGAGATGCCTCTGAGTCAGCACTCTTAAAGTGCATA c.1380
P I L K | R A V A G D A S E S A L L K C I p.460
. . . . . . g.25777
GAGCTGTGCTGTGGTTCCGTGAAGGAGATGAGAGAAAGATACGCCAAAATCGTCGAGATA c.1440
E L C C G S V K E M R E R Y A K I V E I p.480
. . | 12. . . . g.26379
CCCTTCAACTCCACCAACAAGTACCAG | TTGTCTATTCATAAGAACCCCAACACATCGGAG c.1500
P F N S T N K Y Q | L S I H K N P N T S E p.500
. . . . . . g.26439
CCCCAACACCTGTTGGTGATGAAGGGCGCCCCAGAAAGGATCCTAGACCGTTGCAGCTCT c.1560
P Q H L L V M K G A P E R I L D R C S S p.520
. . . . . . g.26499
ATCCTCCTCCACGGCAAGGAGCAGCCCCTGGATGAGGAGCTGAAAGACGCCTTTCAGAAC c.1620
I L L H G K E Q P L D E E L K D A F Q N p.540
. . . . | 13 . . g.27945
GCCTATTTGGAGCTGGGGGGCCTCGGAGAACGAGTCCTAG | GTTTCTGCCACCTCTTTCTG c.1680
A Y L E L G G L G E R V L G | F C H L F L p.560
. . . . . . g.28005
CCAGATGAACAGTTTCCTGAAGGGTTCCAGTTTGACACTGACGATGTGAATTTCCCTATC c.1740
P D E Q F P E G F Q F D T D D V N F P I p.580
. . . . . . g.28065
GATAATCTGTGCTTTGTTGGGCTCATCTCCATGATTGACCCTCCACGGGCGGCCGTTCCT c.1800
D N L C F V G L I S M I D P P R A A V P p.600
. . . | 14 . . . g.29437
GATGCCGTGGGCAAATGTCGAAGTGCTGGAATTAAG | GTCATCATGGTCACAGGAGACCAT c.1860
D A V G K C R S A G I K | V I M V T G D H p.620
. . . . . . g.29497
CCAATCACAGCTAAAGCTATTGCCAAAGGTGTGGGCATCATCTCAGAAGGCAATGAGACC c.1920
P I T A K A I A K G V G I I S E G N E T p.640
. . . . . | 15 . g.30710
GTGGAAGACATTGCTGCCCGCCTCAACATCCCAGTCAGCCAGGTGAACCCCAG | GGATGCC c.1980
V E D I A A R L N I P V S Q V N P R | D A p.660
. . . . . . g.30770
AAGGCCTGCGTAGTACACGGCAGTGATCTAAAGGACATGACCTCCGAGCAGCTGGATGAC c.2040
K A C V V H G S D L K D M T S E Q L D D p.680
. . . . . . g.30830
ATTTTGAAGTACCACACTGAGATAGTGTTTGCCAGGACCTCCCCTCAGCAGAAGCTCATC c.2100
I L K Y H T E I V F A R T S P Q Q K L I p.700
. . | 16 . . . . g.31472
ATTGTGGAAGGCTGCCAAAGACAG | GGTGCTATCGTGGCTGTGACTGGTGACGGTGTGAAT c.2160
I V E G C Q R Q | G A I V A V T G D G V N p.720
. . . . . . g.31532
GACTCTCCAGCTTTGAAGAAAGCAGACATTGGGGTTGCTATGGGGATTGCTGGCTCAGAT c.2220
D S P A L K K A D I G V A M G I A G S D p.740
. . . . . . g.31592
GTGTCCAAGCAAGCTGCTGACATGATTCTTCTGGATGACAACTTTGCCTCAATTGTGACT c.2280
V S K Q A A D M I L L D D N F A S I V T p.760
. | 17 . . . . . g.31792
GGAGTAGAGGAAG | GTCGTCTGATCTTTGATAACTTGAAGAAATCCATTGCTTATACCTTA c.2340
G V E E G | R L I F D N L K K S I A Y T L p.780
. . . . . . g.31852
ACCAGTAACATTCCCGAGATCACCCCGTTCCTGATATTTATTATTGCAAACATTCCACTA c.2400
T S N I P E I T P F L I F I I A N I P L p.800
. . . . | 18 . g.32247
CCACTGGGGACTGTCACCATCCTCTGCATTGACTTGGGCACTGACATG | GTTCCTGCCATC c.2460
P L G T V T I L C I D L G T D M | V P A I p.820
. . . . . . g.32307
TCCCTGGCTTATGAGCAGGCTGAGAGTGACATCATGAAGAGACAGCCCAGAAATCCCAAA c.2520
S L A Y E Q A E S D I M K R Q P R N P K p.840
. . . . . | 19 . g.33684
ACAGACAAACTTGTGAATGAGCGGCTGATCAGCATGGCCTATGGGCAGATTG | GAATGATC c.2580
T D K L V N E R L I S M A Y G Q I G | M I p.860
. . . . . . g.33744
CAGGCCCTGGGAGGCTTCTTTACTTACTTTGTGATTCTGGCTGAGAACGGCTTCCTCCCA c.2640
Q A L G G F F T Y F V I L A E N G F L P p.880
. . . . . . g.33804
ATTCACCTGTTGGGCCTCCGAGTGGACTGGGATGACCGCTGGATCAACGATGTGGAAGAC c.2700
I H L L G L R V D W D D R W I N D V E D p.900
. | 20 . . . . g.33987
AGCTACGGGCAGCAGTGG | ACCTATGAGCAGAGGAAAATCGTGGAGTTCACCTGCCACACA c.2760
S Y G Q Q W | T Y E Q R K I V E F T C H T p.920
. . . . . . g.34047
GCCTTCTTCGTCAGTATCGTGGTGGTGCAGTGGGCCGACTTGGTCATCTGTAAGACCAGG c.2820
A F F V S I V V V Q W A D L V I C K T R p.940
. . | 21 . . . g.34400
AGGAATTCGGTCTTCCAGCAGGGGATGAA | GAACAAGATCTTGATATTTGGCCTCTTTGAA c.2880
R N S V F Q Q G M K | N K I L I F G L F E p.960
. . . . . . g.34460
GAGACAGCCCTGGCTGCTTTCCTTTCCTACTGCCCTGGAATGGGTGTTGCTCTTAGGATG c.2940
E T A L A A F L S Y C P G M G V A L R M p.980
. | 22 . . . . . g.36748
TATCCCCTCAA | ACCTACCTGGTGGTTCTGTGCCTTCCCCTACTCTCTTCTCATCTTCGTA c.3000
Y P L K | P T W W F C A F P Y S L L I F V p.1000
. . . . | 23 . . g.37248
TATGACGAAGTCAGAAAACTCATCATCAGGCGACGCCCTGGCG | GCTGGGTGGAGAAGGAA c.3060
Y D E V R K L I I R R R P G G | W V E K E p.1020
. g.37260
ACCTACTATTAG c.3072
T Y Y X p.1023
. . . . . . g.37320
ccccccgtcctgcacgccgtggagcatcaggccacacactctgcatccgacacccacccc c.*60
. . . . . . g.37380
ctctttgtgtacttcagtcttggagtttggaactctaccctggtaggaaagcaccgcagc c.*120
. . . . . . g.37440
atgtggggaagcaagacgtcctggaatgaagcatgtagctctatggggggaggggggagg c.*180
. . . . . . g.37500
gctgcctgaaaaccatccatctgtggaaatgacagcggggaaggtttttatgtgcctttt c.*240
. . . . . . g.37560
tgtttttgtaaaaaaggaacacccggaaagactgaaagaatacattttatatctggattt c.*300
. . . g.37590
ttacaaataaagatggctattataatggaa c.*330
(downstream sequence)
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