(used for variant description)
(last modified May 1, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000463.2 in the UGT1A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033238.1, covering UGT1A1 transcript NM_000463.2.
(upstream sequence)
. g.5015
aggagcaaaggcgcc c.-1
. . . . . . g.5075
ATGGCTGTGGAGTCCCAGGGCGGACGCCCACTTGTCCTGGGCCTGCTGCTGTGTGTGCTG c.60
M A V E S Q G G R P L V L G L L L C V L p.20
. . . . . . g.5135
GGCCCAGTGGTGTCCCATGCTGGGAAGATACTGTTGATCCCAGTGGATGGCAGCCACTGG c.120
G P V V S H A G K I L L I P V D G S H W p.40
. . . . . . g.5195
CTGAGCATGCTTGGGGCCATCCAGCAGCTGCAGCAGAGGGGACATGAAATAGTTGTCCTA c.180
L S M L G A I Q Q L Q Q R G H E I V V L p.60
. . . . . . g.5255
GCACCTGACGCCTCGTTGTACATCAGAGACGGAGCATTTTACACCTTGAAGACGTACCCT c.240
A P D A S L Y I R D G A F Y T L K T Y P p.80
. . . . . . g.5315
GTGCCATTCCAAAGGGAGGATGTGAAAGAGTCTTTTGTTAGTCTCGGGCATAATGTTTTT c.300
V P F Q R E D V K E S F V S L G H N V F p.100
. . . . . . g.5375
GAGAATGATTCTTTCCTGCAGCGTGTGATCAAAACATACAAGAAAATAAAAAAGGACTCT c.360
E N D S F L Q R V I K T Y K K I K K D S p.120
. . . . . . g.5435
GCTATGCTTTTGTCTGGCTGTTCCCACTTACTGCACAACAAGGAGCTCATGGCCTCCCTG c.420
A M L L S G C S H L L H N K E L M A S L p.140
. . . . . . g.5495
GCAGAAAGCAGCTTTGATGTCATGCTGACGGACCCTTTCCTTCCTTGCAGCCCCATCGTG c.480
A E S S F D V M L T D P F L P C S P I V p.160
. . . . . . g.5555
GCCCAGTACCTGTCTCTGCCCACTGTATTCTTCTTGCATGCACTGCCATGCAGCCTGGAA c.540
A Q Y L S L P T V F F L H A L P C S L E p.180
. . . . . . g.5615
TTTGAGGCTACCCAGTGCCCCAACCCATTCTCCTACGTGCCCAGGCCTCTCTCCTCTCAT c.600
F E A T Q C P N P F S Y V P R P L S S H p.200
. . . . . . g.5675
TCAGATCACATGACCTTCCTGCAGCGGGTGAAGAACATGCTCATTGCCTTTTCACAGAAC c.660
S D H M T F L Q R V K N M L I A F S Q N p.220
. . . . . . g.5735
TTTCTGTGCGACGTGGTTTATTCCCCGTATGCAACCCTTGCCTCAGAATTCCTTCAGAGA c.720
F L C D V V Y S P Y A T L A S E F L Q R p.240
. . . . . . g.5795
GAGGTGACTGTCCAGGACCTATTGAGCTCTGCATCTGTCTGGCTGTTTAGAAGTGACTTT c.780
E V T V Q D L L S S A S V W L F R S D F p.260
. . . . . . g.5855
GTGAAGGATTACCCTAGGCCCATCATGCCCAATATGGTTTTTGTTGGTGGAATCAACTGC c.840
V K D Y P R P I M P N M V F V G G I N C p.280
. . | 02 . . . . g.11797
CTTCACCAAAATCCACTATCCCAG | GAATTTGAAGCCTACATTAATGCTTCTGGAGAACAT c.900
L H Q N P L S Q | E F E A Y I N A S G E H p.300
. . . . . . g.11857
GGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATG c.960
G I V V F S L G S M V S E I P E K K A M p.320
. . . | 03 . . . g.12600
GCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACA | GTCCTGTGGCGGTACACTGGAACC c.1020
A I A D A L G K I P Q T | V L W R Y T G T p.340
. . . . . . g.12660
CGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTG c.1080
R P S N L A N N T I L V K W L P Q N D L p.360
| 04 . . . . . . g.13003
CTTG | GTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAA c.1140
L G | H P M T R A F I T H A G S H G V Y E p.380
. . . . . . g.13063
AGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAAT c.1200
S I C N G V P M V M M P L F G D Q M D N p.400
. . . . . . g.13123
GCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCT c.1260
A K R M E T K G A G V T L N V L E M T S p.420
. . . . | 05 . . g.17005
GAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAG | TTACAAGGAGAACATC c.1320
E D L E N A L K A V I N D K S | Y K E N I p.440
. . . . . . g.17065
ATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTC c.1380
M R L S S L H K D R P V E P L D L A V F p.460
. . . . . . g.17125
TGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGAC c.1440
W V E F V M R H K G A P H L R P A A H D p.480
. . . . . . g.17185
CTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTG c.1500
L T W Y Q Y H S L D V I G F L L A V V L p.500
. . . . . . g.17245
ACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAA c.1560
T V A F I T F K C C A Y G Y R K C L G K p.520
. . . . g.17287
AAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGA c.1602
K G R V K K A H K S K T H X p.533
. . . . . . g.17347
gaagtgggtgggaaataaggtaaaattttgaaccattccctagtcatttccaaacttgaa c.*60
. . . . . . g.17407
aacagaatcagtgttaaattcattttattcttattaaggaaatactttgcataaattaat c.*120
. . . . . . g.17467
cagccccagagtgctttaaaaaattctcttaaataaaaataatagactcgctagtcagta c.*180
. . . . . . g.17527
aagatatttgaatatgtatcgtgccccctctggtgtctttgatcaggatgacatgtgcca c.*240
. . . . . . g.17587
tttttcagaggacgtgcagacaggctggcattctagattacttttcttactctgaaacat c.*300
. . . . . . g.17647
ggcctgtttgggagtgcgggattcaaaggtggtcccacggctgcccctactgcaaatggc c.*360
. . . . . . g.17707
agttttaatcttatcttttggcttctgcagatggttgcaattgatccttaaccaataatg c.*420
. . . . . . g.17767
gtcagtcctcatctctgtcgtgcttcataggtgccaccttgtgtgtttaaagaagggaag c.*480
. . . . . . g.17827
ctttgtacctttagagtgtaggtgaaatgaatgaatggcttggagtgcactgagaacagc c.*540
. . . . . . g.17887
atatgatttcttgctttggggaaaaagaatgatgctatgaaattggtgggtggtgtattt c.*600
. . . . . . g.17947
gagaagataatcattgcttatgtcaaatggagctgaatttgataaaaacccaaaatacag c.*660
. . . . . . g.18007
ctatgaagtgctgggcaagtttactttttttctgatgtttcctacaactaaaaataaatt c.*720
. . g.18027
aataaatttatataaattct c.*740
(downstream sequence)
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