(used for variant description)
(last modified December 15, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_013430.2 in the GGT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008111.1, covering GGT1 transcript NM_013430.2.
(upstream sequence)
g.5007
gcctgga c.-481
. . . . . . | 02 g.29211
ttctcccagagattgcctggaacaccagctcgggtcctcgcacaccatcctg | cgggtgca c.-421
. . . . . . g.29271
gcccagaactgtcttctgaggaagaggtgctctcctgggcccccactgtccccaggcctc c.-361
. | 03 . . . . . g.31272
ag | caaggcaagtgaggtgctgccgtcatccaggctggacagttcagtgatttgcctgagg c.-301
. . | 04 . . . . g.31548
ccccacagcag | agttcaactggagacagagaaaccagctagaggcagagggaggtaacac c.-241
. . . . . . g.31608
ggagtcccccagaaaggtctgggctgcgcgtgcttcaggtaacctcccttgaccttcagg c.-181
. . . . . . g.31668
agaacgagaaggctgcctgatcagagagtccctgaagaagattctgtggctacaggcttc c.-121
. . . . . . g.31728
agcagagtgtgagggagaccccggttatttcctcagctatttccaccaaatcctcctgtc c.-61
. . . . . . | 05 g.32331
tttcgtggccaacaccccaggcaaggcttggggcccccgtctgctgctggacg | cagagcc c.-1
. . . . . . g.32391
ATGAAGAAGAAGTTAGTGGTGCTGGGCCTGCTGGCCGTGGTCCTGGTGCTGGTCATTGTC c.60
M K K K L V V L G L L A V V L V L V I V p.20
. . . . . . g.32451
GGCCTCTGTCTCTGGCTGCCCTCAGCCTCCAAGGAACCTGACAACCATGTGTACACCAGG c.120
G L C L W L P S A S K E P D N H V Y T R p.40
. . . . | 06 . . g.36041
GCTGCCGTGGCCGCGGATGCCAAGCAGTGCTCGAAGATTGGGAG | GGATGCACTGCGGGAC c.180
A A V A A D A K Q C S K I G R | D A L R D p.60
. . . . . . g.36101
GGTGGCTCTGCGGTGGATGCAGCCATTGCAGCCCTGTTGTGTGTGGGGCTCATGAATGCC c.240
G G S A V D A A I A A L L C V G L M N A p.80
. . . . . | 07 . g.36295
CACAGCATGGGCATCGGGGGTGGCCTCTTCCTCACCATCTACAACAGCACCACAC | GAAAA c.300
H S M G I G G G L F L T I Y N S T T R | K p.100
. . . . . . g.36355
GCTGAGGTCATCAACGCCCGCGAGGTGGCCCCCAGGCTGGCCTTTGCCACCATGTTCAAC c.360
A E V I N A R E V A P R L A F A T M F N p.120
. . | 08 . . . . g.41615
AGCTCGGAGCAGTCCCAGAAGG | GGGGGCTGTCGGTGGCGGTGCCTGGGGAGATCCGAGGC c.420
S S E Q S Q K G | G L S V A V P G E I R G p.140
. . . . . . g.41675
TATGAGCTGGCACACCAGCGGCATGGGCGGCTGCCCTGGGCTCGCCTCTTCCAGCCCAGC c.480
Y E L A H Q R H G R L P W A R L F Q P S p.160
. . . . . . g.41735
ATCCAGCTGGCCCGCCAGGGCTTCCCCGTGGGCAAGGGCTTGGCGGCAGCCCTGGAAAAC c.540
I Q L A R Q G F P V G K G L A A A L E N p.180
. . . | 09 . . . g.42187
AAGCGGACCGTCATCGAGCAGCAGCCTGTCTTGTG | TGAGGTGTTCTGCCGGGATAGAAAG c.600
K R T V I E Q Q P V L C | E V F C R D R K p.200
. . . . . . g.42247
GTGCTTCGGGAGGGGGAGAGACTGACCCTGCCGCAGCTGGCTGACACCTACGAGACGCTG c.660
V L R E G E R L T L P Q L A D T Y E T L p.220
. . . . . . g.42307
GCCATCGAGGGTGCCCAGGCCTTCTACAACGGCAGCCTCACGGCCCAGATTGTGAAGGAC c.720
A I E G A Q A F Y N G S L T A Q I V K D p.240
. | 10 . . . . . g.44403
ATCCAGGCGGCCG | GGGGCATTGTGACAGCTGAGGACCTGAACAACTACCGTGCTGAGCTG c.780
I Q A A G | G I V T A E D L N N Y R A E L p.260
. . . . . . g.44463
ATCGAGCACCCGCTGAACATCAGCCTGGGAGACGTGGTGCTGTACATGCCCAGTGCGCCG c.840
I E H P L N I S L G D V V L Y M P S A P p.280
. . . . | 11 . . g.45046
CTCAGCGGGCCCGTGCTGGCCCTCATCCTCAACATCCTCAAAG | GGTACAACTTCTCCCGG c.900
L S G P V L A L I L N I L K G | Y N F S R p.300
. . . . . . g.45106
GAGAGCGTGGAGAGCCCCGAGCAGAAGGGCCTGACGTACCACCGCATCGTAGAGGCTTTC c.960
E S V E S P E Q K G L T Y H R I V E A F p.320
. . . . . . g.45166
CGGTTTGCCTACGCCAAGAGGACCCTGCTTGGGGACCCCAAGTTTGTGGATGTGACTGAG c.1020
R F A Y A K R T L L G D P K F V D V T E p.340
| 12 . . . . . . g.48741
| GTGGTCCGCAACATGACCTCCGAGTTCTTCGCTGCCCAGCTCCGGGCCCAGATCTCTGAC c.1080
| V V R N M T S E F F A A Q L R A Q I S D p.360
. . . . . . g.48801
GACACCACTCACCCGATCTCCTACTACAAGCCCGAGTTCTACACGCCGGATGACGGGGGC c.1140
D T T H P I S Y Y K P E F Y T P D D G G p.380
. . . . . . g.48861
ACTGCTCACCTGTCTGTCGTCGCAGAGGACGGCAGTGCTGTGTCCGCCACCAGCACCATC c.1200
T A H L S V V A E D G S A V S A T S T I p.400
| 13 . . . . . g.49153
AACCTCTA | CTTTGGCTCCAAGGTCCGCTCCCCGGTCAGCGGGATCCTGTTCAATAATGAA c.1260
N L Y | F G S K V R S P V S G I L F N N E p.420
. . . . . . g.49213
ATGGACGACTTCAGCTCTCCCAGCATCACCAACGAGTTTGGGGTACCCCCCTCACCTGCC c.1320
M D D F S S P S I T N E F G V P P S P A p.440
. | 14 . . . . . g.49374
AATTTCATCCAGCCAG | GGAAGCAGCCGCTCTCGTCCATGTGCCCGACGATCATGGTGGGC c.1380
N F I Q P G | K Q P L S S M C P T I M V G p.460
. . . . . . g.49434
CAGGACGGCCAGGTCCGGATGGTGGTGGGAGCTGCTGGGGGCACACAGATCACCACGGCC c.1440
Q D G Q V R M V V G A A G G T Q I T T A p.480
| 15 . . . . . g.49575
ACTGCACTG | GCCATCATCTACAACCTCTGGTTCGGCTATGACGTGAAGCGGGCCGTGGAG c.1500
T A L | A I I Y N L W F G Y D V K R A V E p.500
. . . . . . g.49635
GAGCCCCGGCTGCACAACCAGCTTCTGCCCAACGTCACGACAGTGGAGAGAAACATTGAC c.1560
E P R L H N Q L L P N V T T V E R N I D p.520
| 16 . . . . . . g.49999
CAG | GCAGTGACTGCAGCCCTGGAGACCCGGCACCATCACACCCAGATCGCGTCCACCTTC c.1620
Q | A V T A A L E T R H H H T Q I A S T F p.540
. . . . . . g.50059
ATCGCTGTGGTGCAAGCCATCGTCCGCACGGCTGGTGGCTGGGCAGCTGCCTCGGACTCC c.1680
I A V V Q A I V R T A G G W A A A S D S p.560
. . . g.50089
AGGAAAGGCGGGGAGCCTGCCGGCTACTGA c.1710
R K G G E P A G Y X p.569
. . . . . . g.50149
gtgctccaggaggacaaggctgacaagcaatccagggacaagatactcaccaggaccagg c.*60
. . . . . . g.50209
aaggggactctgggggaccggcttcccctgtgagcagcagagcagcacaataaatgaggc c.*120
. . . . g.50255
cactgtgccaggctccaggtggcctccctggcctgtctccccactc c.*166
(downstream sequence)
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