(used for variant description)
(last modified October 18, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000033.3 in the ABCD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009022.1, covering ABCD1 transcript NM_000033.3.
(upstream sequence)
. . . g.5039
gccaggctgcggagcggacggacgcgcctggtgccccgg c.-361
. . . . . . g.5099
ggaggggcgccaccgggggaggaggaggaggagaaggtggagaggaagagacgccccctc c.-301
. . . . . . g.5159
tgcccgagacctctcaaggccctgacctcaggggccagggcactgacaggacaggagagc c.-241
. . . . . . g.5219
caagttcctccacttgggctgcccgaagaggccgcgaccctggagggccctgagcccacc c.-181
. . . . . . g.5279
gcaccaggggccccagcaccaccccgggggcctaaagcgacagtctcaggggccatcgca c.-121
. . . . . . g.5339
aggtttccagttgcctagacaacaggcccagggtcagagcaacaatccttccagccacct c.-61
. . . . . . g.5399
gcctcaactgctgccccaggcaccagccccagtccctacgcggcagccagcccaggtgac c.-1
. . . . . . g.5459
ATGCCGGTGCTCTCCAGGCCCCGGCCCTGGCGGGGGAACACGCTGAAGCGCACGGCCGTG c.60
M P V L S R P R P W R G N T L K R T A V p.20
. . . . . . g.5519
CTCCTGGCCCTCGCGGCCTATGGAGCCCACAAAGTCTACCCCTTGGTGCGCCAGTGCCTG c.120
L L A L A A Y G A H K V Y P L V R Q C L p.40
. . . . . . g.5579
GCCCCGGCCAGGGGTCTTCAGGCGCCCGCCGGGGAGCCCACGCAGGAGGCCTCCGGGGTC c.180
A P A R G L Q A P A G E P T Q E A S G V p.60
. . . . . . g.5639
GCGGCGGCCAAAGCTGGCATGAACCGGGTATTCCTGCAGCGGCTCCTGTGGCTCCTGCGG c.240
A A A K A G M N R V F L Q R L L W L L R p.80
. . . . . . g.5699
CTGCTGTTCCCCCGGGTCCTGTGCCGGGAGACGGGGCTGCTGGCCCTGCACTCGGCCGCC c.300
L L F P R V L C R E T G L L A L H S A A p.100
. . . . . . g.5759
TTGGTGAGCCGCACCTTCCTGTCGGTGTATGTGGCCCGCCTGGACGGAAGGCTGGCCCGC c.360
L V S R T F L S V Y V A R L D G R L A R p.120
. . . . . . g.5819
TGCATCGTCCGCAAGGACCCGCGGGCTTTTGGCTGGCAGCTGCTGCAGTGGCTCCTCATC c.420
C I V R K D P R A F G W Q L L Q W L L I p.140
. . . . . . g.5879
GCCCTCCCTGCTACCTTCGTCAACAGTGCCATCCGTTACCTGGAGGGCCAACTGGCCCTG c.480
A L P A T F V N S A I R Y L E G Q L A L p.160
. . . . . . g.5939
TCGTTCCGCAGCCGTCTGGTGGCCCACGCCTACCGCCTCTACTTCTCCCAGCAGACCTAC c.540
S F R S R L V A H A Y R L Y F S Q Q T Y p.180
. . . . . . g.5999
TACCGGGTCAGCAACATGGACGGGCGGCTTCGCAACCCTGACCAGTCTCTGACGGAGGAC c.600
Y R V S N M D G R L R N P D Q S L T E D p.200
. . . . . . g.6059
GTGGTGGCCTTTGCGGCCTCTGTGGCCCACCTCTACTCCAACCTGACCAAGCCACTCCTG c.660
V V A F A A S V A H L Y S N L T K P L L p.220
. . . . . . g.6119
GACGTGGCTGTGACTTCCTACACCCTGCTTCGGGCGGCCCGCTCCCGTGGAGCCGGCACA c.720
D V A V T S Y T L L R A A R S R G A G T p.240
. . . . . . g.6179
GCCTGGCCCTCGGCCATCGCCGGCCTCGTGGTGTTCCTCACGGCCAACGTGCTGCGGGCC c.780
A W P S A I A G L V V F L T A N V L R A p.260
. . . . . . g.6239
TTCTCGCCCAAGTTCGGGGAGCTGGTGGCAGAGGAGGCGCGGCGGAAGGGGGAGCTGCGC c.840
F S P K F G E L V A E E A R R K G E L R p.280
. . . . . . g.6299
TACATGCACTCGCGTGTGGTGGCCAACTCGGAGGAGATCGCCTTCTATGGGGGCCATGAG c.900
Y M H S R V V A N S E E I A F Y G G H E p.300
| 02 . . . . . . g.9424
| GTGGAGCTGGCCCTGCTACAGCGCTCCTACCAGGACCTGGCCTCGCAGATCAACCTCATC c.960
| V E L A L L Q R S Y Q D L A S Q I N L I p.320
. . . . . . g.9484
CTTCTGGAACGCCTGTGGTATGTTATGCTGGAGCAGTTCCTCATGAAGTATGTGTGGAGC c.1020
L L E R L W Y V M L E Q F L M K Y V W S p.340
. . . . . . g.9544
GCCTCGGGCCTGCTCATGGTGGCTGTCCCCATCATCACTGCCACTGGCTACTCAGAGTCA c.1080
A S G L L M V A V P I I T A T G Y S E S p.360
| 03 . . . . . . g.16302
G | ATGCAGAGGCCGTGAAGAAGGCAGCCTTGGAAAAGAAGGAGGAGGAGCTGGTGAGCGAG c.1140
D | A E A V K K A A L E K K E E E L V S E p.380
. . . . . . g.16362
CGCACAGAAGCCTTCACTATTGCCCGCAACCTCCTGACAGCGGCTGCAGATGCCATTGAG c.1200
R T E A F T I A R N L L T A A A D A I E p.400
. . | 04 . . . . g.16512
CGGATCATGTCGTCGTACAAGGAG | GTGACGGAGCTGGCTGGCTACACAGCCCGGGTGCAC c.1260
R I M S S Y K E | V T E L A G Y T A R V H p.420
. . . . . . g.16572
GAGATGTTCCAGGTATTTGAAGATGTTCAGCGCTGTCACTTCAAGAGGCCCAGGGAGCTA c.1320
E M F Q V F E D V Q R C H F K R P R E L p.440
. . . . . . g.16632
GAGGACGCTCAGGCGGGGTCTGGGACCATAGGCCGGTCTGGTGTCCGTGTGGAGGGCCCC c.1380
E D A Q A G S G T I G R S G V R V E G P p.460
. | 05 . . . . . g.17335
CTGAAGATCCGAG | GCCAGGTGGTGGATGTGGAACAGGGGATCATCTGCGAGAACATCCCC c.1440
L K I R G | Q V V D V E Q G I I C E N I P p.480
. . . . | 06 . g.20235
ATCGTCACGCCCTCAGGAGAGGTGGTGGTGGCCAGCCTCAACATCAGG | GTGGAGGAAGGC c.1500
I V T P S G E V V V A S L N I R | V E E G p.500
. . . . . . g.20295
ATGCATCTGCTCATCACAGGCCCCAATGGCTGCGGCAAGAGCTCCCTGTTCCGGATCCTG c.1560
M H L L I T G P N G C G K S S L F R I L p.520
. . . . . . g.20355
GGTGGGCTCTGGCCCACGTACGGTGGTGTGCTCTACAAGCCCCCACCCCAGCGCATGTTC c.1620
G G L W P T Y G G V L Y K P P P Q R M F p.540
. | 07 . . . . . g.20751
TACATCCCGCAGAG | GCCCTACATGTCTGTGGGCTCCCTGCGTGACCAGGTGATCTACCCG c.1680
Y I P Q R | P Y M S V G S L R D Q V I Y P p.560
. . . . . . g.20811
GACTCAGTGGAGGACATGCAAAGGAAGGGCTACTCGGAGCAGGACCTGGAAGCCATCCTG c.1740
D S V E D M Q R K G Y S E Q D L E A I L p.580
. . . . | 08 . . g.23138
GACGTCGTGCACCTGCACCACATCCTGCAGCGGGAGGGAG | GTTGGGAGGCTATGTGTGAC c.1800
D V V H L H H I L Q R E G G | W E A M C D p.600
. . . . . . g.23198
TGGAAGGACGTCCTGTCGGGTGGCGAGAAGCAGAGAATCGGCATGGCCCGCATGTTCTAC c.1860
W K D V L S G G E K Q R I G M A R M F Y p.620
| 09 . . . . . . g.23407
CACAG | GCCCAAGTACGCCCTCCTGGATGAATGCACCAGCGCCGTGAGCATCGACGTGGAA c.1920
H R | P K Y A L L D E C T S A V S I D V E p.640
. . . . . . g.23467
GGCAAGATCTTCCAGGCGGCCAAGGACGCGGGCATTGCCCTGCTCTCCATCACCCACCGG c.1980
G K I F Q A A K D A G I A L L S I T H R p.660
. | 10 . . . . . g.23669
CCCTCCCTGTG | GAAATACCACACACACTTGCTACAGTTCGATGGGGAGGGCGGCTGGAAG c.2040
P S L W | K Y H T H L L Q F D G E G G W K p.680
. . . . . . g.23729
TTCGAGAAGCTGGACTCAGCTGCCCGCCTGAGCCTGACGGAGGAGAAGCAGCGGCTGGAG c.2100
F E K L D S A A R L S L T E E K Q R L E p.700
. . . . . . g.23789
CAGCAGCTGGCGGGCATTCCCAAGATGCAGCGGCGCCTCCAGGAGCTCTGCCAGATCCTG c.2160
Q Q L A G I P K M Q R R L Q E L C Q I L p.720
. . . . . . g.23849
GGCGAGGCCGTGGCCCCAGCGCATGTGCCGGCACCTAGCCCGCAAGGCCCTGGTGGCCTC c.2220
G E A V A P A H V P A P S P Q G P G G L p.740
. g.23867
CAGGGTGCCTCCACCTGA c.2238
Q G A S T X p.745
. . . . . . g.23927
cacaaccgtccccggcccctgccccgcccccaagctcggatcacatgaaggagacagcag c.*60
. . . . . . g.23987
cacccacccatgcacgcaccccgcccctgcatgcctggcccctcctcctagaaaaccctt c.*120
. . . . . . g.24047
cccgccctcgggaaagtagatgtggagggtggcgccctgcgtaaccctcgccctgtccct c.*180
. . . . . . g.24107
cccactccctgggggcgctgttccacagtgactgggccctgtccagggcagtgagtcctc c.*240
. . . . . . g.24167
tactttgctccgtggaggaagctggggtacaaggggcccagtgctggccacacagcagcg c.*300
. . . . . . g.24227
cagccgagccccaggagcccgtcaggccacagcccctggcactgcaggtggcctccctcc c.*360
. . . . . . g.24287
agagactcgagtccccatgattccctcctcgtcagtctctcaaagaccccatggtccatc c.*420
. . . . . . g.24347
ccctgagggtggtcagccaaggctcccgttccgtgggatgccataaaagccgcccagtgg c.*480
. . . . . . g.24407
gacccacagtcacacagagcgcctcacctgcatcctctcccccacaagagccccaaagat c.*540
. . . . . . g.24467
cccacgggagaggggagagggacgcacagcactgcctgccaagcgagaatgcaggccccg c.*600
. . . . . . g.24527
ccccctcggcccctcaccacctctttctacagcctaatttattggattccctattcgtag c.*660
. . . . . . g.24587
ccatctccgtggccaatgtgactaccgtgccagcagcgggggcggcccagcctctgagtc c.*720
. . . . . . g.24647
ccgtggggccccggctcccaccggtgccaaacccagcccctgcggccgtcaccccgccag c.*780
. . . . . . g.24707
cctacactgccagccgccaccggggcacacgggcctctgcttgccagccaggagtgcgga c.*840
. . . . . . g.24767
caccatgttcccagctcagtgccaaagaggggtcaccagggggagctgtctgcggagcca c.*900
. . . . . . g.24827
gcgcctgcccgagagagaccccaccgccaccgtgtgcctttcccgggccctcagccctcg c.*960
. . . . . . g.24887
ggccgggcaccacccccagtccccccagtaaaagcctccactggcaaatgcagtccttcc c.*1020
g.24894
tccctgc c.*1027
(downstream sequence)
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