(used for variant description)
(last modified March 5, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000455.4 in the STK11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering STK11 transcript NM_000455.4.(upstream sequence) . . . g.5035 gcgtgtcgggcgcggaagggggaggcggcccgggg c.-1081 . . . . . . g.5095 cgcccgcgagtgaggcgcggggcggcgaagggagcgcgggtggcggcacttgctgccgcg c.-1021 . . . . . . g.5155 gccttggatgggctgggcccccctcgccgctccgcctcctccacacgcgcggcggccgcg c.-961 . . . . . . g.5215 gcgagggggacgcgccgcccggggcccggcaccttcgggaaccccccggcccggagcctg c.-901 . . . . . . g.5275 cggcctgcgccgcctcggccgccgggagccccgtggagcccccgccgccgcgccgccccg c.-841 . . . . . . g.5335 cggaccggacgctgagggcactcggggcggggcgcgcgctcgggcagacgtttgcgggga c.-781 . . . . . . g.5395 ggggggcgcctgccgggccccggcgaccaccttgggggtcgcgggccggctcggggggcg c.-721 . . . . . . g.5455 cccagtgcgggccctcgcgggcgccgggcagcgaccagccctgagcggagctgttggccg c.-661 . . . . . . g.5515 cggcgggaggcctcccggacgcccccagccccccgaacgctcgcccgggccggcgggagt c.-601 . . . . . . g.5575 cggcgccccccgggaggtccgctcggtcgtccgcggcggagcgtttgctcctgggacagg c.-541 . . . . . . g.5635 cggtgggaccggggcgtcgccggagacgcccccagcgaagttgggctctccaggtgtggg c.-481 . . . . . . g.5695 ggtcccggggggtagcgacgtcgcggacccggcctgtgggatgggcggcccggagaagac c.-421 . . . . . . g.5755 tgcgctcggccgtgttcatacttgtccgtgggcctgaggtccccggaggatgacctagca c.-361 . . . . . . g.5815 ctgaaaagccccggccggcctccccagggtccccgaggacgaagttgaccctgaccgggc c.-301 . . . . . . g.5875 cgtctcccagttctgaggcccgggtcccactggaactcgcgtctgagccgccgtcccgga c.-241 . . . . . . g.5935 cccccggtgcccgccggtccgcagaccctgcaccgggcttggactcgcagccgggactga c.-181 . . . . . . g.5995 cgtgtagaacaatcgtttctgttggaagaagggtttttcccttccttttggggtttttgt c.-121 . . . . . . g.6055 tgccttttttttttcttttttctttgtaaaattttggagaagggaagtcggaacacaagg c.-61 . . . . . . g.6115 aaggaccgctcacccgcggactcagggctggcggcgggactccaggaccctgggtccagc c.-1 . . . . . . g.6175 ATGGAGGTGGTGGACCCGCAGCAGCTGGGCATGTTCACGGAGGGCGAGCTGATGTCGGTG c.60 M E V V D P Q Q L G M F T E G E L M S V p.20 . . . . . . g.6235 GGTATGGACACGTTCATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGCGCCGC c.120 G M D T F I H R I D S T E V I Y Q P R R p.40 . . . . . . g.6295 AAGCGGGCCAAGCTCATCGGCAAGTACCTGATGGGGGACCTGCTGGGGGAAGGCTCTTAC c.180 K R A K L I G K Y L M G D L L G E G S Y p.60 . . . . . . g.6355 GGCAAGGTGAAGGAGGTGCTGGACTCGGAGACGCTGTGCAGGAGGGCCGTCAAGATCCTC c.240 G K V K E V L D S E T L C R R A V K I L p.80 . . . . . | 02 . g.17628 AAGAAGAAGAAGTTGCGAAGGATCCCCAACGGGGAGGCCAACGTGAAGAA | GGAAATTCAA c.300 K K K K L R R I P N G E A N V K K | E I Q p.100 . . . . . . g.17688 CTACTGAGGAGGTTACGGCACAAAAATGTCATCCAGCTGGTGGATGTGTTATACAACGAA c.360 L L R R L R H K N V I Q L V D V L Y N E p.120 . | 03 . . . . . g.18571 GAGAAGCAGAAAAT | GTATATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGAAATGCTG c.420 E K Q K M | Y M V M E Y C V C G M Q E M L p.140 . . . . | 04 . . g.19590 GACAGCGTGCCGGAGAAGCGTTTCCCAGTGTGCCAGGCCCACGG | GTACTTCTGTCAGCTG c.480 D S V P E K R F P V C Q A H G | Y F C Q L p.160 . . . . . . g.19650 ATTGACGGCCTGGAGTACCTGCATAGCCAGGGCATTGTGCACAAGGACATCAAGCCGGGG c.540 I D G L E Y L H S Q G I V H K D I K P G p.180 . . . . . | 05. g.19785 AACCTGCTGCTCACCACCGGTGGCACCCTCAAAATCTCCGACCTGGGCGTGGCCGAG | GCA c.600 N L L L T T G G T L K I S D L G V A E | A p.200 . . . . . . g.19845 CTGCACCCGTTCGCGGCGGACGACACCTGCCGGACCAGCCAGGGCTCCCCGGCTTTCCAG c.660 L H P F A A D D T C R T S Q G S P A F Q p.220 . . . . . . g.19905 CCGCCCGAGATTGCCAACGGCCTGGACACCTTCTCCGGCTTCAAGGTGGACATCTGGTCG c.720 P P E I A N G L D T F S G F K V D I W S p.240 . | 06 . . . . . g.20460 GCTGGGGTCACCCT | CTACAACATCACCACGGGTCTGTACCCCTTCGAAGGGGACAACATC c.780 A G V T L | Y N I T T G L Y P F E G D N I p.260 . . . . . . g.20520 TACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACGCCATCCCGGGCGACTGTGGCCCC c.840 Y K L F E N I G K G S Y A I P G D C G P p.280 . . | 07 . . . . g.21188 CCGCTCTCTGACCTGCTGAAAG | GGATGCTTGAGTACGAACCGGCCAAGAGGTTCTCCATC c.900 P L S D L L K G | M L E Y E P A K R F S I p.300 . . | 08 . . . . g.22226 CGGCAGATCCGGCAGCACAG | CTGGTTCCGGAAGAAACATCCTCCGGCTGAAGCACCAGTG c.960 R Q I R Q H S | W F R K K H P P A E A P V p.320 . . . . . . g.22286 CCCATCCCACCGAGCCCAGACACCAAGGACCGGTGGCGCAGCATGACTGTGGTGCCGTAC c.1020 P I P P S P D T K D R W R S M T V V P Y p.340 . . . . . . g.22346 TTGGAGGACCTGCACGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGGATGACATC c.1080 L E D L H G A D E D E D L F D I E D D I p.360 . . | 09 . . . g.25687 ATCTACACTCAGGACTTCACGGTGCCCG | GACAGGTCCCAGAAGAGGAGGCCAGTCACAAT c.1140 I Y T Q D F T V P G | Q V P E E E A S H N p.380 . . . . . . g.25747 GGACAGCGCCGGGGCCTCCCCAAGGCCGTGTGTATGAACGGCACAGAGGCGGCGCAGCTG c.1200 G Q R R G L P K A V C M N G T E A A Q L p.400 . . . . . . g.25807 AGCACCAAATCCAGGGCGGAGGGCCGGGCCCCCAACCCTGCCCGCAAGGCCTGCTCCGCC c.1260 S T K S R A E G R A P N P A R K A C S A p.420 . . . . g.25849 AGCAGCAAGATCCGCCGGCTGTCGGCCTGCAAGCAGCAGTGA | c.1303 S S K I R R L S A C K Q Q X p.433 . | 10 . . . . . g.26838 ggctggccgcctgcag | cccgtgtccaggagccccgccaggtgcccgcgccaggccctcag c.*60 . . . . . . g.26898 tcttcctgccggttccgcccgccctcccggagaggtggccgccatgcttctgtgccgacc c.*120 . . . . . . g.26958 acgccccaggacctccggagcgccctgcagggccgggcagggggacagcagggaccgggc c.*180 . . . . . . g.27018 gcagccctcccccctcggccgcccggcagtgcacgcggcttgttgacttcgcagccccgg c.*240 . . . . . . g.27078 gcggagccttcccgggcgggcgtgggaggagggaggcggcctccatgcactttatgtgga c.*300 . . . . . . g.27138 gactactggccccgcccgtggcctcgtgctccgcagggcgcccagcgccgtccggcggcc c.*360 . . . . . . g.27198 ccgccgcagaccagctggcgggtgtggagaccaggctcctgaccccgccatgcatgcagc c.*420 . . . . . . g.27258 gccacctggaagccgcgcggccgctttggttttttgtttggttggttccattttcttttt c.*480 . . . . . . g.27318 ttctttttttttttaagaaaaaataaaaggtggatttgagctgtggctgtgaggggtgtt c.*540 . . . . . . g.27378 tgggagctgctgggtggcaggggggctgtggggtcgggctcacgtcgcggccgcctttgc c.*600 . . . . . . g.27438 gctctcgggtcaccctgctttggcggcccggccggagggcaggaccctcacctctccccc c.*660 . . . . . . g.27498 aaggccactgcgctcttgggaccccagagaaaacccggagcaagcaggagtgtgcggtca c.*720 . . . . . . g.27558 atatttatatcatccagaaaagaaaaacacgagaaacgccatcgcgggatggtgcagacg c.*780 . . . . . . g.27618 cggcggggactcggagggtgccgtgcgggcgaggccgcccaaatttggcaataaataaag c.*840 . g.27637 cttgggaagcttggacctg c.*859 (downstream sequence)Legend:
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