(used for variant description)
(last modified July 25, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_152743.3 in the BRAT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032167.1, covering BRAT1 transcript NM_152743.3.
(upstream sequence)
. . . . g.5048
accggatgctcggcatgaaccactaggcgcctggcgggggtgatctgt c.-241
. . . . . . g.5108
cggagcgaccggcttggcgcctgcctgtccccagcccctctcagcttgaactccttcctt c.-181
. . . . . . g.5168
caagtctgggccctcgaggcttccagagcggcctccaggggtgcagtctcagttccccac c.-121
. . . . . . g.5228
gccagccgtctccgtcctccgcctcctccgggcctggcaggtggcactgtccggaggcgg c.-61
. . . . . | 02 . g.6327
agccttgggcgaggggtggttgcggcggaggacgcaaccgagcg | ggcctgcggcctcacc c.-1
. . . . . . g.6387
ATGGACCCAGAATGCGCCCAGCTGCTCCCGGCTCTCTGTGCTGTTCTGGTAGATCCCAGG c.60
M D P E C A Q L L P A L C A V L V D P R p.20
. . . . . . g.6447
CAGCCGGTGGCAGATGACACCTGTTTGGAGAAGCTCCTGGACTGGTTTAAAACGGTCACT c.120
Q P V A D D T C L E K L L D W F K T V T p.40
| 03. . . . . . g.13333
GAAGGAG | AGTCCAGTGTCGTGCTGCTGCAGGAGCACCCCTGCCTGGTGGAGCTGCTGTCC c.180
E G E | S S V V L L Q E H P C L V E L L S p.60
. . . . . . g.13393
CATGTGCTGAAAGTCCAGGACCTGAGTTCTGGGGTCCTCTCCTTCTCACTGCGCCTGGCA c.240
H V L K V Q D L S S G V L S F S L R L A p.80
. . . . | 04 . . g.15720
GGAACCTTCGCAGCCCAGGAAAACTGCTTCCAGTATCTTCAG | CAGGGGGAGTTACTACCA c.300
G T F A A Q E N C F Q Y L Q | Q G E L L P p.100
. . . . . . g.15780
GGGCTCTTTGGGGAGCCAGGACCCCTCGGCCGAGCAACCTGGGCCGTCCCCACCGTGCGC c.360
G L F G E P G P L G R A T W A V P T V R p.120
. . . . . . g.15840
AGCGGCTGGATCCAGGGCCTGCGCTCCCTGGCACAGCACCCCAGCGCCCTGCGCTTCCTG c.420
S G W I Q G L R S L A Q H P S A L R F L p.140
. | 05 . . . . . g.16846
GCCGACCATG | GTGCGGTCGACACCATCTTCTCCCTGCAGGGAGACTCCAGCCTGTTTGTG c.480
A D H G | A V D T I F S L Q G D S S L F V p.160
. . . . . . g.16906
GCCTCGGCGGCCAGTCAGCTCCTGGTGCACGTCCTGGCTTTGTCCATGCGAGGTGGAGCC c.540
A S A A S Q L L V H V L A L S M R G G A p.180
. . . . . . g.16966
GAGGGGCAGCCCTGCCTGCCGGGGGGTGACTGGCCCGCGTGTGCCCAGAAGATCATGGAT c.600
E G Q P C L P G G D W P A C A Q K I M D p.200
. . . . . . g.17026
CACGTTGAAGAGTCCTTGTGCTCCGCGGCCACCCCCAAGGTCACTCAGGCCCTGAACGTC c.660
H V E E S L C S A A T P K V T Q A L N V p.220
. . . . . . g.17086
CTGACCACGACCTTCGGGCGCTGCCAGAGCCCCTGGACGGAAGCCCTGTGGGTGCGGCTG c.720
L T T T F G R C Q S P W T E A L W V R L p.240
. . . . . . g.17146
AGTCCCCGCGTGGCCTGTCTGCTGGAGAGAGACCCCATCCCCGCCGCACACTCGTTCGTG c.780
S P R V A C L L E R D P I P A A H S F V p.260
. . | 06 . . . . g.17472
GACCTGCTTCTCTGTGTGGCTCG | TTCTCCCGTGTTCAGTTCTTCCGACGGCAGCCTGTGG c.840
D L L L C V A R | S P V F S S S D G S L W p.280
. . . . . . g.17532
GAGACAGTGGCGCGGGCTCTGAGCTGCCTGGGTCCCACCCACATGGGACCCCTGGCTTTG c.900
E T V A R A L S C L G P T H M G P L A L p.300
. . | 07 . . . . g.18584
GGGATCCTGAAGCTCGAGCACTG | TCCACAGGCACTGAGGACCCAGGCCTTCCAGGTCCTT c.960
G I L K L E H C | P Q A L R T Q A F Q V L p.320
. . . . . | 08 . g.18927
CTCCAGCCCCTGGCCTGTGTCCTGAAGGCCACGGTTCAGGCCCCCGGACCCCCAG | GCTTG c.1020
L Q P L A C V L K A T V Q A P G P P G | L p.340
. . . . . . g.18987
CTGGACGGGACGGCAGACGATGCCACGACGGTGGACACACTCCTGGCCTCCAAGTCGTCC c.1080
L D G T A D D A T T V D T L L A S K S S p.360
. . . . . | 09 . g.19280
TGCGCCGGCCTCCTGTGCCGCACCCTGGCTCACCTGGAGGAGCTGCAGCCGCTG | CCCCAG c.1140
C A G L L C R T L A H L E E L Q P L | P Q p.380
. . . . . . g.19340
CGCCCTTCACCGTGGCCCCAGGCGTCTCTACTGGGGGCTACAGTGACTGTCCTGCGGCTC c.1200
R P S P W P Q A S L L G A T V T V L R L p.400
. . . . . . g.19400
TGTGACGGCTCGGCTGCCCCTGCCTCCAGTGTGGGGGGCCACCTCTGTGGGACCCTGGCG c.1260
C D G S A A P A S S V G G H L C G T L A p.420
. . . . . . g.19460
GGCTGCGTCCGGGTCCAGCGAGCAGCCCTCGACTTCCTGGGGACGCTGTCACAGGGGACA c.1320
G C V R V Q R A A L D F L G T L S Q G T p.440
| 10 . . . . . . g.19765
G | GCCCCCAGGAGCTGGTGACGCAGGCGCTTGCTGTCCTCCTGGAGTGCCTCGAGAGCCCC c.1380
G | P Q E L V T Q A L A V L L E C L E S P p.460
. | 11 . . . . . g.20915
GGCTCCAGCCCCACG | GTTCTGAAGAAGGCCTTCCAGGCCACGCTCAGGTGGCTCCTGAGC c.1440
G S S P T | V L K K A F Q A T L R W L L S p.480
. . . . . | 12 g.21118
TCACCCAAGACCCCCGGCTGCTCTGATCTCGGCCCCCTCATCCCGCAGTTCCTCAGAG | AG c.1500
S P K T P G C S D L G P L I P Q F L R E | p.500
. . . . . . g.21178
CTGTTCCCTGTGCTGCAGAAACGCCTGTGCCACCCCTGCTGGGAGGTGAGGGACTCCGCC c.1560
L F P V L Q K R L C H P C W E V R D S A p.520
. . . | 13. . . g.21430
CTCGAGTTCCTGACCCAGCTGAGCAGGCACTGGGGAG | GACAGGCTGACTTCAGATGCGCA c.1620
L E F L T Q L S R H W G G | Q A D F R C A p.540
. . . . . . g.21490
CTCTTGGCTTCAGAGGTGCCTCAGCTGGCCCTGCAGCTCCTCCAGGACCCTGAGAGTTAT c.1680
L L A S E V P Q L A L Q L L Q D P E S Y p.560
. . . . . . g.21550
GTCCGAGCGAGTGCAGTGACCGCCATGGGGCAGCTGTCCAGCCAGGGCCTGCACGCCCCC c.1740
V R A S A V T A M G Q L S S Q G L H A P p.580
. . . | 14 . . . g.22024
ACCAGCCCTGAGCATGCAGAGGCCCGGCAG | AGCCTGTTCCTGGAGCTCCTGCACATCCTC c.1800
T S P E H A E A R Q | S L F L E L L H I L p.600
. . . . . . g.22084
TCCGTAGACTCGGAGGGCTTCCCACGGCGGGCGGTCATGCAAGTCTTCACTGAGTGGCTG c.1860
S V D S E G F P R R A V M Q V F T E W L p.620
. . . . . . g.22144
CGGGACGGCCACGCCGACGCGGCCCAGGACACGGAGCAGTTCGTGGCCACTGTGCTGCAG c.1920
R D G H A D A A Q D T E Q F V A T V L Q p.640
. . . . . . g.22204
GCGGCGAGCCGAGACCTGGACTGGGAGGTCCGCGCCCAGGGCCTGGAGCTGGCCCTCGTG c.1980
A A S R D L D W E V R A Q G L E L A L V p.660
. . . . . . g.22264
TTCCTGGGCCAGACTTTGGGGCCGCCGCGTACCCACTGCCCCTATGCCGTGGCCCTACCC c.2040
F L G Q T L G P P R T H C P Y A V A L P p.680
. . . . . . g.22324
GAGGTGGCCCCAGCCCAGCCACTCACCGAGGCACTGAGGGCTCTCTGCCACGTGGGGCTC c.2100
E V A P A Q P L T E A L R A L C H V G L p.700
. . . . . . g.22384
TTTGACTTCGCCTTTTGTGCCTTGTTTGACTGCGACCGCCCTGTGGCGCAGAAGTCTTGT c.2160
F D F A F C A L F D C D R P V A Q K S C p.720
. . . . . . g.22444
GACCTCCTTCTCTTCCTGAGGGACAAGATTGCTTCCTACAGCAGCCTGCGGGAGGCCAGG c.2220
D L L L F L R D K I A S Y S S L R E A R p.740
. . . . . . g.22504
GGCAGCCCCAACACTGCCTCCGCAGAGGCCACCCTGCCGAGGTGGCGGGCGGGTGAGCAG c.2280
G S P N T A S A E A T L P R W R A G E Q p.760
. . . . . . g.22564
GCCCAGCCCCCAGGGGACCAGGAGCCTGAGGCTGTGCTGGCCATGCTCAGGTCCCTAGAC c.2340
A Q P P G D Q E P E A V L A M L R S L D p.780
. . . . . . g.22624
CTGGAGGGCCTGCGGAGCACGCTGGCCGAGAGCAGCGACCACGTGGAAAAGAGTCCCCAG c.2400
L E G L R S T L A E S S D H V E K S P Q p.800
. . . . . . g.22684
TCCCTCCTGCAGGACATGCTGGCCACGGGAGGCTTCCTGCAGGGGGACGAGGCCGACTGC c.2460
S L L Q D M L A T G G F L Q G D E A D C p.820
g.22690
TACTGA c.2466
Y X p.821
. . . . . . g.22750
gcagaaccagagtctgccactggggctcaggaccaagggaggcagcaccatgtccttctg c.*60
. . . . . . g.22810
tgggacactgccagccccagggctccagcccagcccggtggatcctctggggaagccagg c.*120
. . . . . . g.22870
accaggagagaagcaaggtcaagaaatcccacagtttgatgtattaaagaaatgacttat c.*180
. . . . . . g.22930
ttctactcaaaataaatggcattgaagtctttctttaaccctttttgagttaatttaata c.*240
. g.22949
ataatgatctgagacaagg c.*259
(downstream sequence)
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