(used for variant description)
(last modified January 22, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001042351.1 in the G6PD gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009015.2, covering G6PD transcript NM_001042351.1.
(upstream sequence)
. . . . . g.5053
cgagaactcgggaagccggcgagaagtgtgaggccgcggtagggccgcatccc c.-61
. . . . . . | 02 g.6417
gctccggagagaagtctgagtccgccaggctctgcaggcccgcggaagctcg | acagcgtc c.-1
. . . . . . g.6477
ATGGCAGAGCAGGTGGCCCTGAGCCGGACCCAGGTGTGCGGGATCCTGCGGGAAGAGCTT c.60
M A E Q V A L S R T Q V C G I L R E E L p.20
. . . . . . g.6537
TTCCAGGGCGATGCCTTCCATCAGTCGGATACACACATATTCATCATCATGGGTGCATCG c.120
F Q G D A F H Q S D T H I F I I M G A S p.40
| 03 . . . | 04 . . g.16549
| GGTGACCTGGCCAAGAAGAAGATCTACCCCACCATCTG | GTGGCTGTTCCGGGATGGCCTT c.180
| G D L A K K K I Y P T I W | W L F R D G L p.60
. . . . . . g.16609
CTGCCCGAAAACACCTTCATCGTGGGCTATGCCCGTTCCCGCCTCACAGTGGCTGACATC c.240
L P E N T F I V G Y A R S R L T V A D I p.80
. . | 05. . . . g.17220
CGCAAACAGAGTGAGCCCTTCTTCAAG | GCCACCCCAGAGGAGAAGCTCAAGCTGGAGGAC c.300
R K Q S E P F F K | A T P E E K L K L E D p.100
. . . . . . g.17280
TTCTTTGCCCGCAACTCCTATGTGGCTGGCCAGTACGATGATGCAGCCTCCTACCAGCGC c.360
F F A R N S Y V A G Q Y D D A A S Y Q R p.120
. . . . . . g.17340
CTCAACAGCCACATGAATGCCCTCCACCTGGGGTCACAGGCCAACCGCCTCTTCTACCTG c.420
L N S H M N A L H L G S Q A N R L F Y L p.140
. . . . . . g.17400
GCCTTGCCCCCGACCGTCTACGAGGCCGTCACCAAGAACATTCACGAGTCCTGCATGAGC c.480
A L P P T V Y E A V T K N I H E S C M S p.160
| 06 . . . . . . g.18131
CAGAT | AGGCTGGAACCGCATCATCGTGGAGAAGCCCTTCGGGAGGGACCTGCAGAGCTCT c.540
Q I | G W N R I I V E K P F G R D L Q S S p.180
. . . . . . g.18191
GACCGGCTGTCCAACCACATCTCCTCCCTGTTCCGTGAGGACCAGATCTACCGCATCGAC c.600
D R L S N H I S S L F R E D Q I Y R I D p.200
. . . . | 07 . . g.18428
CACTACCTGGGCAAGGAGATGGTGCAGAACCTCATGGTGCTGAG | ATTTGCCAACAGGATC c.660
H Y L G K E M V Q N L M V L R | F A N R I p.220
. . . . . . g.18488
TTCGGCCCCATCTGGAACCGGGACAACATCGCCTGCGTTATCCTCACCTTCAAGGAGCCC c.720
F G P I W N R D N I A C V I L T F K E P p.240
. . . . . | 08 . g.18913
TTTGGCACTGAGGGTCGCGGGGGCTATTTCGATGAATTTGGGATCATCCG | GGACGTGATG c.780
F G T E G R G G Y F D E F G I I R | D V M p.260
. . . . . . g.18973
CAGAACCACCTACTGCAGATGCTGTGTCTGGTGGCCATGGAGAAGCCCGCCTCCACCAAC c.840
Q N H L L Q M L C L V A M E K P A S T N p.280
. . | 09 . . . . g.19480
TCAGATGACGTCCGTGATGAGAAG | GTCAAGGTGTTGAAATGCATCTCAGAGGTGCAGGCC c.900
S D D V R D E K | V K V L K C I S E V Q A p.300
. . . . . . g.19540
AACAATGTGGTCCTGGGCCAGTACGTGGGGAACCCCGATGGAGAGGGCGAGGCCACCAAA c.960
N N V V L G Q Y V G N P D G E G E A T K p.320
. . . . . . g.19600
GGGTACCTGGACGACCCCACGGTGCCCCGCGGGTCCACCACCGCCACTTTTGCAGCCGTC c.1020
G Y L D D P T V P R G S T T A T F A A V p.340
. . . | 10 . . . g.19799
GTCCTCTATGTGGAGAATGAGAGGTGGGATG | GGGTGCCCTTCATCCTGCGCTGCGGCAAG c.1080
V L Y V E N E R W D G | V P F I L R C G K p.360
. . . . . . g.19859
GCCCTGAACGAGCGCAAGGCCGAGGTGAGGCTGCAGTTCCATGATGTGGCCGGCGACATC c.1140
A L N E R K A E V R L Q F H D V A G D I p.380
. . . . . . g.19919
TTCCACCAGCAGTGCAAGCGCAACGAGCTGGTGATCCGCGTGCAGCCCAACGAGGCCGTG c.1200
F H Q Q C K R N E L V I R V Q P N E A V p.400
. . . . . . g.19979
TACACCAAGATGATGACCAAGAAGCCGGGCATGTTCTTCAACCCCGAGGAGTCGGAGCTG c.1260
Y T K M M T K K P G M F F N P E E S E L p.420
. . | 11. . . . g.20143
GACCTGACCTACGGCAACAGATACAAG | AACGTGAAGCTCCCTGACGCCTACGAGCGCCTC c.1320
D L T Y G N R Y K | N V K L P D A Y E R L p.440
. . . . | 12 . . g.20308
ATCCTGGACGTCTTCTGCGGGAGCCAGATGCACTTCGTGCGCAG | CGACGAGCTCCGTGAG c.1380
I L D V F C G S Q M H F V R S | D E L R E p.460
. . . . . . g.20368
GCCTGGCGTATTTTCACCCCACTGCTGCACCAGATTGAGCTGGAGAAGCCCAAGCCCATC c.1440
A W R I F T P L L H Q I E L E K P K P I p.480
. | 13. . . . . g.20525
CCCTATATTTATGGCAG | CCGAGGCCCCACGGAGGCAGACGAGCTGATGAAGAGAGTGGGT c.1500
P Y I Y G S | R G P T E A D E L M K R V G p.500
. . . . g.20573
TTCCAGTATGAGGGCACCTACAAGTGGGTGAACCCCCACAAGCTCTGA c.1548
F Q Y E G T Y K W V N P H K L X p.515
. . . . . . g.20633
gccctgggcacccacctccacccccgccacggccaccctccttcccgccgcccgaccccg c.*60
. . . . . . g.20693
agtcgggaggactccgggaccattgacctcagctgcacattcctggccccgggctctggc c.*120
. . . . . . g.20753
caccctggcccgcccctcgctgctgctactacccgagcccagctacattcctcagctgcc c.*180
. . . . . . g.20813
aagcactcgagaccatcctggcccctccagaccctgcctgagcccaggagctgagtcacc c.*240
. . . . . . g.20873
tcctccactcactccagcccaacagaaggaaggaggagggcgcccattcgtctgtcccag c.*300
. . . . . . g.20933
agcttattggccactgggtctcactcctgagtggggccagggtgggagggagggacaagg c.*360
. . . . . . g.20993
gggaggaaaggggcgagcacccacgtgagagaatctgcctgtggccttgcccgccagcct c.*420
. . . . . . g.21053
cagtgccacttgacattccttgtcaccagcaacatctcgagccccctggatgtcccctgt c.*480
. . . . . . g.21113
cccaccaactctgcactccatggccaccccgtgccacccgtaggcagcctctctgctata c.*540
. . . . . . g.21173
agaaaagcagacgcagcagctgggacccctcccaacctcaatgccctgccattaaatccg c.*600
g.21182
caaacagcc c.*609
(downstream sequence)
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