(used for variant description)
(last modified June 21, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000545.5 in the HNF1A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011731.2, covering HNF1A transcript NM_000545.5.
(upstream sequence)
. . g.5023
cgtggccctgtggcagccgagcc c.-1
. . . . . . g.5083
ATGGTTTCTAAACTGAGCCAGCTGCAGACGGAGCTCCTGGCGGCCCTGCTCGAGTCAGGG c.60
M V S K L S Q L Q T E L L A A L L E S G p.20
. . . . . . g.5143
CTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCGGGGCCCTACCTCCTGGCTGGA c.120
L S K E A L I Q A L G E P G P Y L L A G p.40
. . . . . . g.5203
GAAGGCCCCCTGGACAAGGGGGAGTCCTGCGGCGGCGGTCGAGGGGAGCTGGCTGAGCTG c.180
E G P L D K G E S C G G G R G E L A E L p.60
. . . . . . g.5263
CCCAATGGGCTGGGGGAGACTCGGGGCTCCGAGGACGAGACGGACGACGATGGGGAAGAC c.240
P N G L G E T R G S E D E T D D D G E D p.80
. . . . . . g.5323
TTCACGCCACCCATCCTCAAAGAGCTGGAGAACCTCAGCCCTGAGGAGGCGGCCCACCAG c.300
F T P P I L K E L E N L S P E E A A H Q p.100
. . | 02 . . . . g.15121
AAAGCCGTGGTGGAGACCCTTCTGCA | GGAGGACCCGTGGCGTGTGGCGAAGATGGTCAAG c.360
K A V V E T L L Q | E D P W R V A K M V K p.120
. . . . . . g.15181
TCCTACCTGCAGCAGCACAACATCCCACAGCGGGAGGTGGTCGATACCACTGGCCTCAAC c.420
S Y L Q Q H N I P Q R E V V D T T G L N p.140
. . . . . . g.15241
CAGTCCCACCTGTCCCAACACCTCAACAAGGGCACTCCCATGAAGACGCAGAAGCGGGCC c.480
Q S H L S Q H L N K G T P M K T Q K R A p.160
. . . . | 03 . . g.19788
GCCCTGTACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGC | AGTTCACCCATGCA c.540
A L Y T W Y V R K Q R E V A Q Q | F T H A p.180
. . . . . . g.19848
GGGCAGGGAGGGCTGATTGAAGAGCCCACAGGTGATGAGCTACCAACCAAGAAGGGGCGG c.600
G Q G G L I E E P T G D E L P T K K G R p.200
. . . . . . g.19908
AGGAACCGTTTCAAGTGGGGCCCAGCATCCCAGCAGATCCTGTTCCAGGCCTATGAGAGG c.660
R N R F K W G P A S Q Q I L F Q A Y E R p.220
. . . . . | 04 . g.20425
CAGAAGAACCCTAGCAAGGAGGAGCGAGAGACGCTAGTGGAGGAGTGCAATAG | GGCGGAA c.720
Q K N P S K E E R E T L V E E C N R | A E p.240
. . . . . . g.20485
TGCATCCAGAGAGGGGTGTCCCCATCACAGGCACAGGGGCTGGGCTCCAACCTCGTCACG c.780
C I Q R G V S P S Q A Q G L G S N L V T p.260
. . . . . . g.20545
GAGGTGCGTGTCTACAACTGGTTTGCCAACCGGCGCAAAGAAGAAGCCTTCCGGCACAAG c.840
E V R V Y N W F A N R R K E E A F R H K p.280
. . . . . . g.20605
CTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTGCCC c.900
L A M D T Y S G P P P G P G P G P A L P p.300
. . . . . | 05 . g.22521
GCTCACAGCTCCCCTGGCCTGCCTCCACCTGCCCTCTCCCCCAGTAAGGTCCACG | GTGTG c.960
A H S S P G L P P P A L S P S K V H G | V p.320
. . . . . . g.22581
CGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTACCCTCAAGCAGCGGCGGTCCC c.1020
R Y G Q P A T S E T A E V P S S S G G P p.340
. . . . . . g.22641
TTAGTGACAGTGTCTACACCCCTCCACCAAGTGTCCCCCACGGGCCTGGAGCCCAGCCAC c.1080
L V T V S T P L H Q V S P T G L E P S H p.360
. . | 06. . . . g.22828
AGCCTGCTGAGTACAGAAGCCAAGCTG | GTCTCAGCAGCTGGGGGCCCCCTCCCCCCTGTC c.1140
S L L S T E A K L | V S A A G G P L P P V p.380
. . . . . . g.22888
AGCACCCTGACAGCACTGCACAGCTTGGAGCAGACATCCCCAGGCCTCAACCAGCAGCCC c.1200
S T L T A L H S L E Q T S P G L N Q Q P p.400
. . . . . . g.22948
CAGAACCTCATCATGGCCTCACTTCCTGGGGTCATGACCATCGGGCCTGGTGAGCCTGCC c.1260
Q N L I M A S L P G V M T I G P G E P A p.420
. . . . | 07 . g.23739
TCCCTGGGTCCTACGTTCACCAACACAGGTGCCTCCACCCTGGTCATCG | GCCTGGCCTCC c.1320
S L G P T F T N T G A S T L V I G | L A S p.440
. . . . . . g.23799
ACGCAGGCACAGAGTGTGCCGGTCATCAACAGCATGGGCAGCAGCCTGACCACCCTGCAG c.1380
T Q A Q S V P V I N S M G S S L T T L Q p.460
. . . . . . g.23859
CCCGTCCAGTTCTCCCAGCCGCTGCACCCCTCCTACCAGCAGCCGCTCATGCCACCTGTG c.1440
P V Q F S Q P L H P S Y Q Q P L M P P V p.480
. . . . . . g.23919
CAGAGCCATGTGACCCAGAGCCCCTTCATGGCCACCATGGCTCAGCTGCAGAGCCCCCAC c.1500
Q S H V T Q S P F M A T M A Q L Q S P H p.500
| 08 . . . . . . g.25581
G | CCCTCTACAGCCACAAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAG c.1560
A | L Y S H K P E V A Q Y T H T G L L P Q p.520
. . . . . . g.25641
ACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAG c.1620
T M L I T D T T N L S A L A S L T P T K p.540
| 09 . . . . . . g.25794
CAG | GTCTTCACCTCAGACACTGAGGCCTCCAGTGAGTCCGGGCTTCACACGCCGGCATCT c.1680
Q | V F T S D T E A S S E S G L H T P A S p.560
. . . . . . g.25854
CAGGCCACCACCCTCCACGTCCCCAGCCAGGACCCTGCCGGCATCCAGCACCTGCAGCCG c.1740
Q A T T L H V P S Q D P A G I Q H L Q P p.580
. . | 10 . . . g.27351
GCCCACCGGCTCAGCGCCAGCCCCACAG | TGTCCTCCAGCAGCCTGGTGCTGTACCAGAGC c.1800
A H R L S A S P T V | S S S S L V L Y Q S p.600
. . . . . . g.27411
TCAGACTCCAGCAATGGCCAGAGCCACCTGCTGCCATCCAACCACAGCGTCATCGAGACC c.1860
S D S S N G Q S H L L P S N H S V I E T p.620
. . . g.27447
TTCATCTCCACCCAGATGGCCTCTTCCTCCCAGTAA c.1896
F I S T Q M A S S S Q X p.631
. . . . . . g.27507
ccacggcacctgggccctggggcctgtactgcctgcttggggggtgatgagggcagcagc c.*60
. . . . . . g.27567
cagccctgcctggaggacctgagcctgccgagcaaccgtggcccttcctggacagctgtg c.*120
. . . . . . g.27627
cctcgctccccactctgctctgatgcatcagaaagggagggctctgaggcgccccaaccc c.*180
. . . . . . g.27687
gtggaggctgctcggggtgcacaggagggggtcgtggagagctaggagcaaagcctgttc c.*240
. . . . . . g.27747
atggcagatgtaggagggactgtcgctgcttcgtgggatacagtcttcttacttggaact c.*300
. . . . . . g.27807
gaagggggcggcctatgacttgggcacccccagcctgggcctatggagagccctgggacc c.*360
. . . . . . g.27867
gctacaccactctggcagccacacttctcaggacacaggcctgtgtagctgtgacctgct c.*420
. . . . . . g.27927
gagctctgagaggccctggatcagcgtggccttgttctgtcaccaatgtacccaccgggc c.*480
. . . . . . g.27987
cactccttcctgccccaactccttccagctagtgacccacatgccatttgtactgacccc c.*540
. . . . . . g.28047
atcacctactcacacaggcatttcctgggtggctactctgtgccagagcctggggctcta c.*600
. . . . . . g.28107
acgcctgagcccagggaggccgaagctaacagggaaggcaggcagggctctcctggcttc c.*660
. . . . . . g.28167
ccatccccagcgattccctctcccaggccccatgacctccagctttcctgtatttgttcc c.*720
. . . . . . g.28227
caagagcatcatgcctctgaggccagcctggcctcctgcctctactgggaaggctacttc c.*780
. . . . . . g.28287
ggggctgggaagtcgtccttactcctgtgggagcctcgcaacccgtgccaagtccaggtc c.*840
. . . . . . g.28347
ctggtggggcagctcctctgtctcgagcgccctgcagaccctgcccttgtttggggcagg c.*900
. . . . . . g.28407
agtagctgagctcacaaggcagcaaggcccgagcagctgagcagggccggggaactggcc c.*960
. . . . . . g.28467
aagctgaggtgcccaggagaagaaagaggtgaccccagggcacaggagctacctgtgtgg c.*1020
. . . . . . g.28527
acaggactaacactcagaagcctgggggcctggctggctgagggcagttcgcagccaccc c.*1080
. . . . . . g.28587
tgaggagtctgaggtcctgagcactgccaggagggacaaaggagcctgtgaacccaggac c.*1140
. . . . . . g.28647
aagcatggtcccacatccctgggcctgctgctgagaacctggccttcagtgtaccgcgtc c.*1200
. . . . . . g.28707
taccctgggattcaggaaaaggcctggggtgacccggcaccccctgcagcttgtagccag c.*1260
. . . . . . g.28767
ccggggcgagtggcacgtttatttaacttttagtaaagtcaaggagaaatgcggtggaaa c.*1320
(downstream sequence)
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