(used for variant description)
(last modified July 11, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000458.2 in the HNF1B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013019.2, covering HNF1B transcript NM_000458.2.
(upstream sequence)
. . . . g.5041
aatttgcatatcttatatggcctaatggtggcgatcatggc c.-181
. . . . . . g.5101
aagttagaagttttctgactcctttcggaggagcctccgggaccccggggagtaacaggt c.-121
. . . . . . g.5161
gtctggaggctgaagggtggaggggttcctggatttggggtttgcttgtgaaactcccct c.-61
. . . . . . g.5221
ccaccctcctctctcgcacccacccaccccctcacccccttctttttccgtccttggaaa c.-1
. . . . . . g.5281
ATGGTGTCCAAGCTCACGTCGCTCCAGCAAGAACTCCTGAGCGCCCTGCTGAGCTCCGGG c.60
M V S K L T S L Q Q E L L S A L L S S G p.20
. . . . . . g.5341
GTCACCAAGGAGGTGCTGGTTCAGGCCTTGGAGGAGTTGCTGCCATCCCCGAACTTCGGG c.120
V T K E V L V Q A L E E L L P S P N F G p.40
. . . . . . g.5401
GTGAAGCTGGAGACGCTGCCCCTGTCCCCTGGCAGCGGGGCCGAGCCCGACACCAAGCCG c.180
V K L E T L P L S P G S G A E P D T K P p.60
. . . . . . g.5461
GTCTTCCATACTCTCACCAACGGCCACGCCAAGGGCCGCTTGTCCGGCGACGAGGGCTCC c.240
V F H T L T N G H A K G R L S G D E G S p.80
. . . . . . g.5521
GAGGACGGCGACGACTATGACACACCTCCCATCCTCAAGGAGCTGCAGGCGCTCAACACC c.300
E D G D D Y D T P P I L K E L Q A L N T p.100
. . . . | 02 . . g.10482
GAGGAGGCGGCGGAGCAGCGGGCGGAGGTGGACCGGATGCTCAG | TGAGGACCCTTGGAGG c.360
E E A A E Q R A E V D R M L S | E D P W R p.120
. . . . . . g.10542
GCTGCTAAAATGATCAAGGGTTACATGCAGCAACACAACATCCCCCAGAGGGAGGTGGTC c.420
A A K M I K G Y M Q Q H N I P Q R E V V p.140
. . . . . . g.10602
GATGTCACCGGCCTGAACCAGTCGCACCTCTCCCAGCATCTCAACAAGGGCACCCCTATG c.480
D V T G L N Q S H L S Q H L N K G T P M p.160
. . . . . . g.10662
AAGACCCAGAAGCGTGCCGCTCTGTACACCTGGTACGTCAGAAAGCAACGAGAGATCCTC c.540
K T Q K R A A L Y T W Y V R K Q R E I L p.180
| 03 . . . . . . g.16338
CGAC | AATTCAACCAGACAGTCCAGAGTTCTGGAAATATGACAGACAAAAGCAGTCAGGAT c.600
R Q | F N Q T V Q S S G N M T D K S S Q D p.200
. . . . . . g.16398
CAGCTGCTGTTTCTCTTTCCAGAGTTCAGTCAACAGAGCCATGGGCCTGGGCAGTCCGAT c.660
Q L L F L F P E F S Q Q S H G P G Q S D p.220
. . . . . . g.16458
GATGCCTGCTCTGAGCCCACCAACAAGAAGATGCGCCGCAACCGGTTCAAATGGGGGCCC c.720
D A C S E P T N K K M R R N R F K W G P p.240
. . . . . . g.16518
GCGTCCCAGCAAATCTTGTACCAGGCCTACGATCGGCAAAAGAACCCCAGCAAGGAAGAG c.780
A S Q Q I L Y Q A Y D R Q K N P S K E E p.260
. . | 04 . . . g.18306
AGAGAGGCCTTAGTGGAGGAATGCAACAG | GGCAGAATGTTTGCAGCGAGGGGTGTCCCCC c.840
R E A L V E E C N R | A E C L Q R G V S P p.280
. . . . . . g.18366
TCCAAAGCCCACGGCCTGGGCTCCAACTTGGTCACTGAGGTCCGTGTCTACAACTGGTTT c.900
S K A H G L G S N L V T E V R V Y N W F p.300
. . . . . . g.18426
GCAAACCGCAGGAAGGAGGAGGCATTCCGGCAAAAGCTGGCCATGGACGCCTATAGCTCC c.960
A N R R K E E A F R Q K L A M D A Y S S p.320
. . . . . . g.18486
AACCAGACTCACAGCCTGAACCCTCTGCTCTCCCACGGCTCCCCCCACCACCAGCCCAGC c.1020
N Q T H S L N P L L S H G S P H H Q P S p.340
. . | 05 . . . . g.39460
TCCTCTCCTCCAAACAAGCTGTCAG | GAGTGCGCTACAGCCAGCAGGGAAACAATGAGATC c.1080
S S P P N K L S G | V R Y S Q Q G N N E I p.360
. . . . . . g.39520
ACTTCCTCCTCAACAATCAGTCACCATGGCAACAGCGCCATGGTGACCAGCCAGTCGGTT c.1140
T S S S T I S H H G N S A M V T S Q S V p.380
. . . . . . g.39580
TTACAGCAAGTCTCCCCAGCCAGCCTGGACCCAGGCCACAATCTCCTCTCACCTGATGGT c.1200
L Q Q V S P A S L D P G H N L L S P D G p.400
| 06 . . . . . . g.45094
AAAATG | ATCTCAGTCTCAGGAGGAGGTTTGCCCCCAGTCAGCACCTTGACGAATATCCAC c.1260
K M | I S V S G G G L P P V S T L T N I H p.420
. . . . . . g.45154
AGCCTCTCCCACCATAATCCCCAGCAATCTCAAAACCTCATCATGACACCCCTCTCTGGA c.1320
S L S H H N P Q Q S Q N L I M T P L S G p.440
. | 07 . . . . g.48955
GTCATGGCAATTGCACAAA | GCCTCAACACCTCCCAAGCACAGAGTGTCCCTGTCATCAAC c.1380
V M A I A Q S | L N T S Q A Q S V P V I N p.460
. . . . . . g.49015
AGTGTGGCCGGCAGCCTGGCAGCCCTGCAGCCCGTCCAGTTCTCCCAGCAGCTGCACAGC c.1440
S V A G S L A A L Q P V Q F S Q Q L H S p.480
. . . . . . g.49075
CCTCACCAGCAGCCCCTCATGCAGCAGAGCCCAGGCAGCCACATGGCCCAGCAGCCCTTC c.1500
P H Q Q P L M Q Q S P G S H M A Q Q P F p.500
. . . | 08 . . . g.50922
ATGGCAGCTGTGACTCAGCTGCAGAACTCACACA | TGTACGCACACAAGCAGGAACCCCCC c.1560
M A A V T Q L Q N S H M | Y A H K Q E P P p.520
. . . . . . g.50982
CAGTATTCCCACACCTCCCGGTTTCCATCTGCAATGGTGGTCACAGATACCAGCAGCATC c.1620
Q Y S H T S R F P S A M V V T D T S S I p.540
. . . | 09 . . g.62728
AGTACACTCACCAACATGTCTTCAAGTAAACAG | TGTCCTCTACAAGCCTGGTGA c.1674
S T L T N M S S S K Q | C P L Q A W X p.557
. . . . . . g.62788
tgcccacacaccacttacttcgtgcgcaacaacaaggaccctgttttccacaccatcacc c.*60
. . . . . . g.62848
ctctgggcagctgtcatggaaaagcccagtgacctgaccggcacctgcgagaggtccctg c.*120
. . . . . . g.62908
cttacctgacggacgtcctgctggcacctcagacaatccactctcaggaggcgcagcccg c.*180
. . . . . . g.62968
aagcccagtttcccttctatgcagtattgccacaatgcctctcccacgatgtcaaggact c.*240
. . . . . . g.63028
cctgtctgtcctggaggtgggagacaaggaaccaccgaagaggaagcaagaaagccgtac c.*300
. . . . . . g.63088
tgtctatgttgtgatccttcatcgaacaaactgatgcgaaaacttgaatctgttactgaa c.*360
. . . . . . g.63148
atgaggagagaaggacatgtgctattgaactgagccaaacacactgtaaatatccacaga c.*420
. . . . . . g.63208
ctccctcccctgcccccatcccacatgatcttgagatttcttttaaagaagtaaatttgt c.*480
. . . . . . g.63268
ccaatggctgtaaactataaactactgtaattaagtgcaatttcccctctgtgtcctctc c.*540
. . . . . . g.63328
ccctctgccctgtatataatactaaagtgtctattagttttctttgtaaaggtcagagtc c.*600
. . . . . . g.63388
aaaatttcaaaagtgatctgtcccctctcccctcatggagaaacatcctaagtgggaagt c.*660
. . . . . . g.63448
gaagccccttgtcctctcccgcgggcctggacacttatggggacagcataccttggactg c.*720
. . . . . . g.63508
actaccagctaactccagtctcctgacattaagacacacctctggatccctggaggggct c.*780
. . . . . . g.63568
gaatgtagtgtgtcagagtaacatgccagcttcctgtgggccaggagctcagccgtgcac c.*840
. . . . . . g.63628
tccctaagaaaccccagggcagggaaactggctgtttgatagcagaagaaaaagttgcag c.*900
. . . . g.63669
tctcagaaagccttccattaaaacaatttattttatcacta c.*941
(downstream sequence)
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