(used for variant description)
(last modified May 30, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_005603.4 in the ATP8B1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007148.2, covering ATP8B1 transcript NM_005603.4.
(upstream sequence)
. . . . . . g.5060
tggggccgggcgggcggcggcagcggccaggtgcgcagcgagcgctccgagcggcgcgca c.-61
. . . . | 02. . g.76288
ccaggcggatgccccagccggggcccagcgaacgccag | gtagttccaatttgccagcaga c.-1
. . . . . . g.76348
ATGAGTACAGAAAGAGACTCAGAAACGACATTTGACGAGGATTCTCAGCCTAATGACGAA c.60
M S T E R D S E T T F D E D S Q P N D E p.20
. . . . . . g.76408
GTGGTTCCCTACAGTGATGATGAAACAGAAGATGAACTTGATGACCAGGGGTCTGCTGTT c.120
V V P Y S D D E T E D E L D D Q G S A V p.40
. . . . . . g.76468
GAACCAGAACAAAACCGAGTCAACAGGGAAGCAGAGGAGAACCGGGAGCCATTCAGAAAA c.180
E P E Q N R V N R E A E E N R E P F R K p.60
| 03 . . . . . . g.101567
G | AATGTACATGGCAAGTCAAAGCAAACGATCGCAAGTACCACGAACAACCTCACTTTATG c.240
E | C T W Q V K A N D R K Y H E Q P H F M p.80
. . . | 04 . . g.103448
AACACAAAATTCTTGTGTATTAAGGAGAGTAAATATGCG | AATAATGCAATTAAAACATAC c.300
N T K F L C I K E S K Y A | N N A I K T Y p.100
. . . . . . g.103508
AAGTACAACGCATTTACCTTTATACCAATGAATCTGTTTGAGCAGTTTAAGAGAGCAGCC c.360
K Y N A F T F I P M N L F E Q F K R A A p.120
. . . | 05 . . . g.106809
AATTTATATTTCCTGGCTCTTCTTATCTTACAG | GCAGTTCCTCAAATCTCTACCCTGGCT c.420
N L Y F L A L L I L Q | A V P Q I S T L A p.140
. . . . . . g.106869
TGGTACACCACACTAGTGCCCCTGCTTGTGGTGCTGGGCGTCACTGCAATCAAAGACCTG c.480
W Y T T L V P L L V V L G V T A I K D L p.160
. | 06 . . . . . g.107043
GTGGACGATGTG | GCTCGCCATAAAATGGATAAGGAAATCAACAATAGGACGTGTGAAGTC c.540
V D D V | A R H K M D K E I N N R T C E V p.180
. | 07 . . . . . g.110274
ATTAAGGATGGCAG | GTTCAAAGTTGCTAAGTGGAAAGAAATTCAAGTTGGAGACGTCATT c.600
I K D G R | F K V A K W K E I Q V G D V I p.200
. . | 08. . . . g.110440
CGTCTGAAAAAAAATGATTTTGTTCCA | GCTGACATTCTCCTGCTGTCTAGCTCTGAGCCT c.660
R L K K N D F V P | A D I L L L S S S E P p.220
. . . | 09 . . g.112585
AACAGCCTCTGCTATGTGGAAACAGCAGAACTGGATGG | AGAAACCAATTTAAAATTTAAG c.720
N S L C Y V E T A E L D G | E T N L K F K p.240
. . . . . . g.112645
ATGTCACTTGAAATCACAGACCAGTACCTCCAAAGAGAAGATACATTGGCTACATTTGAT c.780
M S L E I T D Q Y L Q R E D T L A T F D p.260
| 10 . . . . . . g.112825
G | GTTTTATTGAATGTGAAGAACCCAATAACAGACTAGATAAGTTTACAGGAACACTATTT c.840
G | F I E C E E P N N R L D K F T G T L F p.280
. . . . . . g.112885
TGGAGAAACACAAGTTTTCCTTTGGATGCTGATAAAATTTTGTTACGTGGCTGTGTAATT c.900
W R N T S F P L D A D K I L L R G C V I p.300
. . . . | 11 . . g.113445
AGGAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAG | GTGCTGACACTAAAATAATG c.960
R N T D F C H G L V I F A G | A D T K I M p.320
. . . . . . g.113505
AAGAATAGTGGGAAAACCAGATTTAAAAGAACTAAAATTGATTACTTGATGAACTACATG c.1020
K N S G K T R F K R T K I D Y L M N Y M p.340
| 12 . . . . . g.116149
GTTTACACG | ATCTTTGTTGTTCTTATTCTGCTTTCTGCTGGTCTTGCCATCGGCCATGCT c.1080
V Y T | I F V V L I L L S A G L A I G H A p.360
. . . . . . g.116209
TATTGGGAAGCACAGGTGGGCAATTCCTCTTGGTACCTCTATGATGGAGAAGACGATACA c.1140
Y W E A Q V G N S S W Y L Y D G E D D T p.380
. . . . . . g.116269
CCCTCCTACCGTGGATTCCTCATTTTCTGGGGCTATATCATTGTTCTCAACACCATGGTA c.1200
P S Y R G F L I F W G Y I I V L N T M V p.400
. . | 13 . . . . g.119628
CCCATCTCTCTCTATGTCAG | CGTGGAAGTGATTCGTCTTGGACAGAGTCACTTCATCAAC c.1260
P I S L Y V S | V E V I R L G Q S H F I N p.420
. . . . . . g.119688
TGGGACCTGCAAATGTACTATGCTGAGAAGGACACACCCGCAAAAGCTAGAACCACCACA c.1320
W D L Q M Y Y A E K D T P A K A R T T T p.440
. . . . . . g.119748
CTCAATGAACAGCTCGGGCAGATCCATTATATCTTCTCTGATAAGACGGGGACACTCACA c.1380
L N E Q L G Q I H Y I F S D K T G T L T p.460
. . . . | 14 . g.122991
CAAAATATCATGACCTTTAAAAAGTGCTGTATCAACGGGCAGATATATG | GGGACCATCGG c.1440
Q N I M T F K K C C I N G Q I Y G | D H R p.480
. . . | 15 . . . g.123930
GATGCCTCTCAACACAACCACAACAAAATAGAG | CAAGTTGATTTTAGCTGGAATACATAT c.1500
D A S Q H N H N K I E | Q V D F S W N T Y p.500
. . . . . . g.123990
GCTGATGGGAAGCTTGCATTTTATGACCACTATCTTATTGAGCAAATCCAGTCAGGGAAA c.1560
A D G K L A F Y D H Y L I E Q I Q S G K p.520
. . . . . . g.124050
GAGCCAGAAGTACGACAGTTCTTCTTCTTGCTCGCAGTTTGCCACACAGTCATGGTGGAT c.1620
E P E V R Q F F F L L A V C H T V M V D p.540
. | 16 . . . . . g.133123
AGGACTGATG | GTCAGCTCAACTACCAGGCAGCCTCTCCCGATGAAGGTGCCCTGGTAAAC c.1680
R T D G | Q L N Y Q A A S P D E G A L V N p.560
. . . . . . g.133183
GCTGCCAGGAACTTTGGCTTTGCCTTCCTCGCCAGGACCCAGAACACCATCACCATCAGT c.1740
A A R N F G F A F L A R T Q N T I T I S p.580
. . . . . . g.133243
GAACTGGGCACTGAAAGGACTTACAATGTTCTTGCCATTTTGGACTTCAACAGTGACCGG c.1800
E L G T E R T Y N V L A I L D F N S D R p.600
. | 17 . . . . g.136556
AAGCGAATGTCTATCATTG | TAAGAACCCCAGAAGGCAATATCAAGCTTTACTGTAAAGGT c.1860
K R M S I I V | R T P E G N I K L Y C K G p.620
. . . . . . g.136616
GCTGACACTGTTATTTATGAACGGTTACATCGAATGAATCCTACTAAGCAAGAAACACAG c.1920
A D T V I Y E R L H R M N P T K Q E T Q p.640
. | 18 . . . . . g.138661
GATGCCCTGGAT | ATCTTTGCAAATGAAACTCTTAGAACCCTATGCCTTTGCTACAAGGAA c.1980
D A L D | I F A N E T L R T L C L C Y K E p.660
. . . . . . g.138721
ATTGAAGAAAAAGAATTTACAGAATGGAATAAAAAGTTTATGGCTGCCAGTGTGGCCTCC c.2040
I E E K E F T E W N K K F M A A S V A S p.680
. . . . . | 19. g.139558
ACCAACCGGGACGAAGCTCTGGATAAAGTATATGAGGAGATTGAAAAAGACTTAATT | CTC c.2100
T N R D E A L D K V Y E E I E K D L I | L p.700
. . . . . . g.139618
CTGGGAGCTACAGCTATTGAAGACAAGCTACAGGATGGAGTTCCAGAAACCATTTCAAAA c.2160
L G A T A I E D K L Q D G V P E T I S K p.720
. . . . | 20 . g.140939
CTTGCAAAAGCTGACATTAAGATCTGGGTGCTTACTGGAGACAAAAAGG | AAACTGCTGAA c.2220
L A K A D I K I W V L T G D K K E | T A E p.740
. . . . . . g.140999
AATATAGGATTTGCTTGTGAACTTCTGACTGAAGACACCACCATCTGCTATGGGGAGGAT c.2280
N I G F A C E L L T E D T T I C Y G E D p.760
| 21 . . . . . . g.145535
ATTAA | TTCTCTTCTTCATGCAAGGATGGAAAACCAGAGGAATAGAGGTGGCGTCTACGCA c.2340
I N | S L L H A R M E N Q R N R G G V Y A p.780
. . . . . . g.145595
AAGTTTGCACCTCCTGTGCAGGAATCTTTTTTTCCACCCGGTGGAAACCGTGCCTTAATC c.2400
K F A P P V Q E S F F P P G G N R A L I p.800
. | 22 . . . . g.146675
ATCACTGGTTCTTGGTTG | AATGAAATTCTTCTCGAGAAAAAGACCAAGAGAAATAAGATT c.2460
I T G S W L | N E I L L E K K T K R N K I p.820
. . . . . . g.146735
CTGAAGCTGAAGTTCCCAAGAACAGAAGAAGAAAGACGGATGCGGACCCAAAGTAAAAGG c.2520
L K L K F P R T E E E R R M R T Q S K R p.840
. . . . . . g.146795
AGGCTAGAAGCTAAGAAAGAGCAGCGGCAGAAAAACTTTGTGGACCTGGCCTGCGAGTGC c.2580
R L E A K K E Q R Q K N F V D L A C E C p.860
. . . . . . g.146855
AGCGCAGTCATCTGCTGCCGCGTCACCCCCAAGCAGAAGGCCATGGTGGTGGACCTGGTG c.2640
S A V I C C R V T P K Q K A M V V D L V p.880
. . . . . . g.146915
AAGAGGTACAAGAAAGCCATCACGCTGGCCATCGGAGATGGGGCCAATGACGTGAACATG c.2700
K R Y K K A I T L A I G D G A N D V N M p.900
| 23. . . . . . g.152731
ATCAAAA | CTGCCCACATTGGCGTTGGAATAAGTGGACAAGAAGGAATGCAAGCTGTCATG c.2760
I K T | A H I G V G I S G Q E G M Q A V M p.920
. . . . . . g.152791
TCGAGTGACTATTCCTTTGCTCAGTTCCGATATCTGCAGAGGCTACTGCTGGTGCATGGC c.2820
S S D Y S F A Q F R Y L Q R L L L V H G p.940
. . . . . . g.152851
CGATGGTCTTACATAAGGATGTGCAAGTTCCTACGATACTTCTTTTACAAAAACTTTGCC c.2880
R W S Y I R M C K F L R Y F F Y K N F A p.960
. . . . . | 24 . g.154029
TTTACTTTGGTTCATTTCTGGTACTCCTTCTTCAATGGCTACTCTGCGCAG | ACTGCATAC c.2940
F T L V H F W Y S F F N G Y S A Q | T A Y p.980
. . . . . . g.154089
GAGGATTGGTTCATCACCCTCTACAACGTGCTGTACACCAGCCTGCCCGTGCTCCTCATG c.3000
E D W F I T L Y N V L Y T S L P V L L M p.1000
. | 25 . . . . . g.155411
GGGCTGCTCGACCAG | GATGTGAGTGACAAACTGAGCCTCCGATTCCCTGGGTTATACATA c.3060
G L L D Q | D V S D K L S L R F P G L Y I p.1020
. . . . . . g.155471
GTGGGACAAAGAGACTTACTATTCAACTATAAGAGATTCTTTGTAAGCTTGTTGCATGGG c.3120
V G Q R D L L F N Y K R F F V S L L H G p.1040
. . . . . . g.155531
GTCCTAACATCGATGATCCTCTTCTTCATACCTCTTGGAGCTTATCTGCAAACCGTAGGG c.3180
V L T S M I L F F I P L G A Y L Q T V G p.1060
. . . . . . g.155591
CAGGATGGAGAGGCACCTTCCGACTACCAGTCTTTTGCCGTCACCATTGCCTCTGCTCTT c.3240
Q D G E A P S D Y Q S F A V T I A S A L p.1080
. . | 26 . . . . g.155962
GTAATAACAGTCAATTTCCAG | ATTGGCTTGGATACTTCTTATTGGACTTTTGTGAATGCT c.3300
V I T V N F Q | I G L D T S Y W T F V N A p.1100
. . . . . . g.156022
TTTTCAATTTTTGGAAGCATTGCACTTTATTTTGGCATCATGTTTGACTTTCATAGTGCT c.3360
F S I F G S I A L Y F G I M F D F H S A p.1120
. . . . | 27 . . g.157618
GGAATACATGTTCTCTTTCCATCTGCATTTCAATTTACAG | GCACAGCTTCAAACGCTCTG c.3420
G I H V L F P S A F Q F T G | T A S N A L p.1140
. . . . . . g.157678
AGACAGCCATACATTTGGTTAACTATCATCCTGGCTGTTGCTGTGTGCTTACTACCCGTC c.3480
R Q P Y I W L T I I L A V A V C L L P V p.1160
. . . . . | 28 . g.159392
GTTGCCATTCGATTCCTGTCAATGACCATCTGGCCATCAGAAAGTGATAAG | ATCCAGAAG c.3540
V A I R F L S M T I W P S E S D K | I Q K p.1180
. . . . . . g.159452
CATCGCAAGCGGTTGAAGGCGGAGGAGCAGTGGCAGCGACGGCAGCAGGTGTTCCGCCGG c.3600
H R K R L K A E E Q W Q R R Q Q V F R R p.1200
. . . . . . g.159512
GGCGTGTCAACGCGGCGCTCGGCCTACGCCTTCTCGCACCAGCGGGGCTACGCGGACCTC c.3660
G V S T R R S A Y A F S H Q R G Y A D L p.1220
. . . . . . g.159572
ATCTCCTCCGGGCGCAGCATCCGCAAGAAGCGCTCGCCGCTTGATGCCATCGTGGCGGAT c.3720
I S S G R S I R K K R S P L D A I V A D p.1240
. . . g.159608
GGCACCGCGGAGTACAGGCGCACCGGGGACAGCTGA c.3756
G T A E Y R R T G D S X p.1251
. . . . . . g.159668
tcccttacccccaggctgggatgcggccacaaagcacgtctatttttttatgaaagactc c.*60
. . . . . . g.159728
tcaggactttgtgtgtgtgtgtgaattgcattcatcacaaagatattgaagacaataaat c.*120
. . . . . . g.159788
aatctttataacaaactccttgggttggactattaaacaatagcagagccaagaaatagg c.*180
. . . . . . g.159848
acttttaaaagtcctattattcggccgggcgtggtggctcaggtctgtaatcccagcact c.*240
. . . . . . g.159908
ttaggaggctgaggaggggagatcacctgaggccaggagttcgagaccagcccagccaac c.*300
. . . . . . g.159968
atggtgaaaccctgtctctaccataaattaaaaattagccgggcttggtggtgggcaccc c.*360
. . . . . . g.160028
gtaatcccacctatttgagaagctgaagcagaagaatcgcttgaacctgggagatggagg c.*420
. . . . . . g.160088
ttacagtgagccgagattgcgccactgcactccagcctgggtgacagagcaagactctgt c.*480
. . . . . . g.160148
cttaagaaaaatttaaaaataggccgggcatggtggctcatgcctgtcatcctagcactt c.*540
. . . . . . g.160208
tgggaggccaaggcaggtggatcacttgaggtcaggagaccagcccggccaacatggtga c.*600
. . . . . . g.160268
aaccccatctctactaaaaatacaaaaattagctggaaatcgcttgaacctgggaggtgg c.*660
. . . . . . g.160328
aggttccagtgagccgagatcgtggcactgcactccaacctgagcaacagagtgagacac c.*720
. . . . . . g.160388
cagctcaaaaaaaattttttaataataataaaagtcctattattcaactggttatgtaca c.*780
. . . . . . g.160448
ttatggttgaaagggaacgttttaatccagtctcaatccagggcaatagaattacaaagc c.*840
. . . . . . g.160508
atgttgtatttcagttcaaatggtattgtattataaaattacagttacattttcctttcg c.*900
. . . . . . g.160568
gtgatcttcagcataatttcccagaggcccctttttcctccctataggccatcttattaa c.*960
. . . . . . g.160628
cagattttaaaatttatagtaatgacaaatgacttatcagtgttcatcatctgaaagcta c.*1020
. . . . . . g.160688
agtggttcgttcaatcactttttcaaagttgatagtagattgcatggtttcatgtttcct c.*1080
. . . . . . g.160748
catattggtttattaattctatttaatcaaggaaaataacttcagattccataaagtttc c.*1140
. . . . . . g.160808
agtttatttttagtttactactaggtgagatagcacattacatacttttactatcaaata c.*1200
. . . . . . g.160868
ttattttagcagcttcccatagtaccaaatgatttgattccctactctcattttttaaag c.*1260
. . . . . . g.160928
catataaatatttatgggcttaaaaagggggtttttaaaaactgaggatatcagtaataa c.*1320
. . . . . . g.160988
attgcagaatattttgcaaagctttcttttggaaagcaaacttttgtgcctgcctatatg c.*1380
. . . . . . g.161048
caaagtattttatcagggacttgaacaaagacctcactctttttcacttgtcttatgtcg c.*1440
. . . . . . g.161108
agagaaaaggttattggcagccacattcctaagactggggaatggtgtgtccttttaaat c.*1500
. . . . . . g.161168
ttgaagataactttaggtaattatggaaactcctcaaagaggagaaagtaatttttttcc c.*1560
. . . . . . g.161228
agacatttttctcattctgtgtctttcacacactagtttccatagttcgagaattctgtt c.*1620
. . . . . . g.161288
ttttaccattgggctgtgaatgttcacaatatcagtcctgttgaattcctatgaggtaat c.*1680
. . . . . . g.161348
cacaatgtgtatatgttcattttctaggtatgataaaagaatgtatggctttttattctg c.*1740
. . . . . . g.161408
tggaagtaaaatcctgaacgtttacaacttttccttaacttgtaaataaaaaattgtaag c.*1800
. . . . . . g.161468
ttttttctttttttacagaaaacttagcttgtgtaattctgttagtttcagatttctctc c.*1860
. . . . . . g.161528
ctgtttttgcaaattgtgggaaagattgacaatgcaaatgtgtcaaagacatactgttgg c.*1920
. . . . . . g.161588
gtgcaatattaacaattttaaatgcaaatttctttggataaattatttctatattctgta c.*1980
. . . . . . g.161648
aatctgagatttaatgtatattttgtttaaaaaaatgatttagtaaaatctttgaaaagt c.*2040
. . g.161670
atgatcttctaaagtatttaaa c.*2062
(downstream sequence)
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