(used for variant description)
(last modified October 23, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001127.3 in the AP1B1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering AP1B1 transcript NM_001127.3.
(upstream sequence)
g.5007
cccgcgc c.-181
. . . . . . g.5067
gcgggcagctcacttccgcccggcaggtgacagccgcggggctccgagccgccggcagcc c.-121
. . . . . . g.5127
cggacgcaccgggagagcgagaggtggaggccgcggacattttggtgccaagccgaaccg c.-61
. . . . | 02 . . g.26340
agccggggcgccgggagctattgggacctgcgg | aagcctggctacagataagggaccaaa c.-1
. . . | 03. . . g.30500
ATGACTGACTCAAAATATTTCACCACGACCAAGAAAG | GGGAGATCTTCGAGCTGAAGGCA c.60
M T D S K Y F T T T K K G | E I F E L K A p.20
. . . . . . g.30560
GAGCTCAACAGTGACAAGAAGGAGAAGAAGAAGGAGGCAGTGAAGAAAGTGATTGCATCG c.120
E L N S D K K E K K K E A V K K V I A S p.40
. . | 04 . . . . g.33661
ATGACCGTGGGCAAAGATGTCAG | TGCCCTCTTCCCCGATGTGGTCAACTGCATGCAGACG c.180
M T V G K D V S | A L F P D V V N C M Q T p.60
. . . . . . g.33721
GACAACCTGGAGCTGAAGAAGCTAGTATACCTCTACTTGATGAATTACGCCAAGAGTCAG c.240
D N L E L K K L V Y L Y L M N Y A K S Q p.80
. . . | 05 . . g.34633
CCTGACATGGCCATTATGGCCGTCAACACCTTTGTGAAG | GACTGTGAGGACCCCAACCCC c.300
P D M A I M A V N T F V K | D C E D P N P p.100
. . . . . . g.34693
CTCATCCGAGCCCTGGCAGTGCGGACCATGGGCTGCATCCGCGTTGACAAGATCACAGAG c.360
L I R A L A V R T M G C I R V D K I T E p.120
. . . . . . g.34753
TACCTGTGCGAGCCACTCCGGAAGTGCCTGAAGGACGAGGATCCATATGTGCGCAAGACA c.420
Y L C E P L R K C L K D E D P Y V R K T p.140
. . . . . . g.34813
GCAGCTGTGTGCGTGGCCAAGCTCCACGACATCAACGCCCAGCTGGTGGAGGACCAGGGC c.480
A A V C V A K L H D I N A Q L V E D Q G p.160
. . . . | 06 . . g.36982
TTCCTGGACACCCTTAAAGACCTCATCTCCGACTCTAACCCCATG | GTGGTGGCCAATGCA c.540
F L D T L K D L I S D S N P M | V V A N A p.180
. . . . . . g.37042
GTGGCAGCGCTCTCAGAAATTGCCGAGTCTCACCCCAGCAGCAACCTGCTCGATCTGAAC c.600
V A A L S E I A E S H P S S N L L D L N p.200
. . . . . . g.37102
CCACAGTCCATCAACAAGCTGCTGACAGCCCTCAATGAGTGCACCGAGTGGGGCCAGATC c.660
P Q S I N K L L T A L N E C T E W G Q I p.220
. . . . . | 07 . g.38716
TTCATCCTGGACTGCCTCGCCAACTATATGCCCAAGGACGACCGCGAGGCCCAGAG | CATC c.720
F I L D C L A N Y M P K D D R E A Q S | I p.240
. . . . . . g.38776
TGTGAGCGGGTCACCCCCAGGCTCTCCCATGCCAACTCCGCTGTGGTGCTCTCTGCTGTG c.780
C E R V T P R L S H A N S A V V L S A V p.260
. . . . . . g.38836
AAGGTGCTGATGAAGTTCATGGAGATGTTGTCTAAGGACTTGGACTACTACGGCACACTG c.840
K V L M K F M E M L S K D L D Y Y G T L p.280
. . . . . . g.38896
CTCAAGAAGCTGGCCCCACCCCTGGTCACACTGCTGTCAGCCGAGCCAGAGCTGCAGTAT c.900
L K K L A P P L V T L L S A E P E L Q Y p.300
. . . | 08 . . g.41780
GTGGCCCTGCGCAACATCAATCTCATCGTGCAGAAAAG | GCCTGAGATCCTGAAGCATGAG c.960
V A L R N I N L I V Q K R | P E I L K H E p.320
. . . . . . g.41840
ATGAAGGTGTTCTTCGTGAAGTACAACGACCCTATCTACGTGAAGCTGGAGAAGCTGGAC c.1020
M K V F F V K Y N D P I Y V K L E K L D p.340
. . . | 09 . . g.42338
ATCATGATCCGCCTGGCCTCTCAGGCCAACATCGCCCAG | GTGTTGGCAGAGCTGAAAGAG c.1080
I M I R L A S Q A N I A Q | V L A E L K E p.360
. . . . . . g.42398
TACGCAACAGAAGTGGATGTGGACTTTGTACGGAAGGCTGTGCGTGCTATTGGCCGCTGC c.1140
Y A T E V D V D F V R K A V R A I G R C p.380
. | 10 . . . . . g.43478
GCCATCAAGGTGGAG | CAATCTGCGGAGCGCTGTGTGAGCACGCTGCTCGACCTCATCCAG c.1200
A I K V E | Q S A E R C V S T L L D L I Q p.400
. . . . . . g.43538
ACCAAGGTCAACTATGTGGTCCAGGAGGCCATCGTGGTCATCAAGGACATCTTCCGCAAG c.1260
T K V N Y V V Q E A I V V I K D I F R K p.420
. | 11 . . . . . g.44249
TACCCCAACAA | GTATGAGAGTGTGATTGCCACACTGTGTGAGAATCTGGACTCCCTGGAT c.1320
Y P N K | Y E S V I A T L C E N L D S L D p.440
. . . . . . g.44309
GAGCCTGAGGCCCGGGCTGCCATGATCTGGATTGTGGGCGAGTACGCGGAACGGATCGAC c.1380
E P E A R A A M I W I V G E Y A E R I D p.460
. . . . . | 12. g.51203
AACGCAGATGAGCTGCTGGAGAGCTTCCTCGAGGGCTTCCATGACGAGAGCACACAG | GTC c.1440
N A D E L L E S F L E G F H D E S T Q | V p.480
. . . . . . g.51263
CAGCTGCAGCTGCTGACAGCCATTGTGAAACTCTTTCTAAAGAAGCCAACAGAGACCCAG c.1500
Q L Q L L T A I V K L F L K K P T E T Q p.500
. . . | 13 . . . g.51847
GAGCTGGTGCAGCAGGTCCTCAGTTTGGCCACTCAG | GACTCAGATAACCCAGACCTGCGG c.1560
E L V Q Q V L S L A T Q | D S D N P D L R p.520
. . . . . . g.51907
GACCGTGGCTACATCTACTGGCGCCTGCTGTCCACGGACCCGGTGGCAGCCAAGGAGGTG c.1620
D R G Y I Y W R L L S T D P V A A K E V p.540
. . . . . . g.51967
GTGTTGGCTGAGAAGCCACTCATCTCTGAAGAGACGGACCTCATCGAGCCCACACTGTTA c.1680
V L A E K P L I S E E T D L I E P T L L p.560
. . . . . . g.52027
GACGAGCTTATCTGCTACATCGGCACGCTGGCTTCCGTCTACCATAAGCCTCCCAGTGCC c.1740
D E L I C Y I G T L A S V Y H K P P S A p.580
. . . . . | 14 . g.52730
TTTGTGGAGGGGGGCCGGGGCGTCGTGCACAAGAGCCTGCCACCTCGCACGGCCTC | GAGT c.1800
F V E G G R G V V H K S L P P R T A S | S p.600
. . . . . . g.52790
GAGAGCGCAGAGAGCCCTGAGACAGCCCCTACTGGAGCACCTCCTGGGGAGCAGCCAGAT c.1860
E S A E S P E T A P T G A P P G E Q P D p.620
. . . . . . g.52850
GTCATCCCCGCCCAGGGCGACCTGCTGGGTGACCTCCTCAACCTGGACCTCGGCCCCCCA c.1920
V I P A Q G D L L G D L L N L D L G P P p.640
. . . . . . g.52910
GTGAGCGGCCCACCCCTGGCCACCTCCTCGGTGCAGATGGGAGCTGTGGACCTTCTTGGC c.1980
V S G P P L A T S S V Q M G A V D L L G p.660
. | 15 . | 16 . . g.54471
GGTGGCCTTGACAGCCTG | ATGGGGGATGAGCCTGAAGGG | ATTGGGGGCACCAACTTCGTG c.2040
G G L D S L | M G D E P E G | I G G T N F V p.680
. . . . . . g.54531
GCACCTCCAACAGCAGCAGTACCAGCCAATCTTGGAGCACCCATCGGCAGTGGCCTGAGT c.2100
A P P T A A V P A N L G A P I G S G L S p.700
. . . . . . g.54591
GACCTCTTTGACCTGACCAGTGGCGTGGGCACCCTGTCAGGATCATATGTGGCCCCCAAA c.2160
D L F D L T S G V G T L S G S Y V A P K p.720
| 17 . . . . . . g.59230
GCA | GTCTGGCTCCCAGCCATGAAGGCTAAGGGGCTGGAGATCTCAGGCACCTTCACCCGC c.2220
A | V W L P A M K A K G L E I S G T F T R p.740
. . . . . . g.59290
CAGGTGGGCTCCATCTCCATGGACCTGCAGCTGACCAACAAGGCCTTGCAGGTCATGACC c.2280
Q V G S I S M D L Q L T N K A L Q V M T p.760
. . | 18 . . . g.61698
GACTTTGCCATCCAGTTCAACCGCAACAG | CTTTGGCCTGGCCCCCGCCACCCCCCTCCAG c.2340
D F A I Q F N R N S | F G L A P A T P L Q p.780
. . . . . . g.61758
GTCCACGCGCCACTCAGCCCCAACCAGACAGTGGAGATCTCCCTGCCTCTCAGCACGGTG c.2400
V H A P L S P N Q T V E I S L P L S T V p.800
. . . | 19 . . g.62071
GGCTCGGTCATGAAGATGGAGCCTCTGAACAACCTCCAG | GTGGCCGTGAAGAACAACATC c.2460
G S V M K M E P L N N L Q | V A V K N N I p.820
. . . . . . g.62131
GATGTCTTCTACTTCAGCACCTTGTACCCACTGCACATCCTCTTTGTGGAGGACGGGAAG c.2520
D V F Y F S T L Y P L H I L F V E D G K p.840
| 20 . . . . . . g.62930
ATGG | ACCGGCAGATGTTCCTGGCCACATGGAAGGATATTCCCAATGAGAATGAGGCCCAG c.2580
M D | R Q M F L A T W K D I P N E N E A Q p.860
. . . | 21 . . . g.63080
TTCCAGATCAGAGACTGCCCCCTCAATGCAG | AGGCTGCGAGCAGCAAGCTGCAGAGCAGC c.2640
F Q I R D C P L N A E | A A S S K L Q S S p.880
. . . . . . g.63140
AACATCTTCACTGTCGCCAAGAGGAACGTGGAGGGCCAGGACATGCTCTACCAGTCCCTG c.2700
N I F T V A K R N V E G Q D M L Y Q S L p.900
. . . . . . g.63200
AAGCTGACCAACGGCATCTGGGTGCTGGCGGAGCTGCGGATCCAGCCGGGCAACCCCAGC c.2760
K L T N G I W V L A E L R I Q P G N P S p.920
| 22 . | 23 . . . . . g.64733
TGCACG | GACTTAGAG | CTGTCCCTGAAGTGTCGAGCACCAGAGGTGTCCCAGCACGTGTAC c.2820
C T | D L E | L S L K C R A P E V S Q H V Y p.940
. . . g.64763
CAGGCCTACGAGACCATCCTCAAGAACTGA c.2850
Q A Y E T I L K N X p.949
. . . . . . g.64823
gaccccggccagcgcccaccccagccttctgcccgccccatcgaggaggcccctcggggg c.*60
. . . . . . g.64883
cagcacatcttcctcctcgcaggagggaccaggcggggctccaggccactcagtgggctc c.*120
. . . . . . g.64943
cctggtcctgatggcagaacccacccgatccctggggtagggcaccaccccctcctgggg c.*180
. . . . . . g.65003
tgagagcgcagtgcactcccgtgctctgggacacccctgctcctgtggctgtgatgtggg c.*240
. . . . . . g.65063
gttaagtgaggtggggaccaaaggaaacagagccagagcagccacagaagctgtgcctga c.*300
. . . . . . g.65123
agggtgagtgtggagcttgcccctccggctcacagccccggcagcccctggctccttggt c.*360
. . . . . . g.65183
ctctccggttggtgttaaagggccctccactgccacctctcatgggatggaccctgccaa c.*420
. . . . . . g.65243
cctggcctgggtgtgcagggaggggttccccttggtaccaggagagctgctcacttaggg c.*480
. . . . . . g.65303
cctggggctcaaggagctgtaggtgccggcagaggggcagagctaggctgggaggagccc c.*540
. . . . . . g.65363
agggcctgcaccacccacttgcaaccaccaggctggtgccctgcagctgtgccagttggg c.*600
. . . . . . g.65423
ccacagcctcccgagtgctgacccacatggtcaagaccaggcagaagctcccagagcccc c.*660
. . . . . . g.65483
tgtctcgggctccccaccgactggcagctgcactatccccaactccccacttctgcccca c.*720
. . . . . . g.65543
agggtggtcactgcctgtgatacattcctcagtgtcgcctctgagcccaggcctcctgcc c.*780
. . . . . . g.65603
acaaagactgggccgagagatggggctgggtaagcgggtgcgcctcctgtttgggtttct c.*840
. . . . . . g.65663
tcggggtttctctgtagtgtctgctgccctcctcctggcctcccaggtttcagttgtgtc c.*900
. . . . . . g.65723
tgacagagcattaggttttcctgttactgctgtgtaataataaagaaagattcggctttt c.*960
. . . . . . g.65783
ggcaatcacggacacttttttcccctccaccgaatgtcaggattgaaagctgcctccgag c.*1020
. . . . . . g.65843
tggttggggatggttttctgaccctacggtaactagatctaatatatatcatcagaaaat c.*1080
. . . . . . g.65903
atatattgtatgtttactcttattttcagaaagagaaaatgaataaaaatgatgacatca c.*1140
g.65904
a c.*1141
(downstream sequence)
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