(used for variant description)
(last modified November 16, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_170740.1 in the ALDH5A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008161.1, covering ALDH5A1 transcript NM_170740.1.
(upstream sequence)
. . g.5028
gtttcctgtcgccgtcgttgcccgggcc c.-1
. . . . . . g.5088
ATGGCGACCTGCATTTGGCTGCGGAGCTGTGGGGCCCGGCGCCTCGGGTCGACGTTTCCA c.60
M A T C I W L R S C G A R R L G S T F P p.20
. . . . . . g.5148
GGCTGCCGCCTCCGCCCCCGCGCCGGCGGCCTGGTCCCTGCCTCCGGGCCTGCGCCCGGC c.120
G C R L R P R A G G L V P A S G P A P G p.40
. . . . . . g.5208
CCGGCCCAGCTCCGCTGCTACGCTGGGCGCCTGGCGGGCCTCTCTGCGGCGCTGCTGCGC c.180
P A Q L R C Y A G R L A G L S A A L L R p.60
. . . . . . g.5268
ACCGACAGCTTCGTGGGCGGCCGCTGGCTCCCGGCCGCCGCCACCTTCCCCGTGCAAGAC c.240
T D S F V G G R W L P A A A T F P V Q D p.80
. . . . . . g.5328
CCGGCCAGCGGCGCCGCTCTGGGCATGGTAGCCGACTGCGGGGTGCGAGAGGCCCGCGCC c.300
P A S G A A L G M V A D C G V R E A R A p.100
. . . . . | 02 . g.12560
GCCGTGCGCGCTGCCTACGAGGCTTTCTGCCGCTGGAGGGAGGTCTCCGCCAAG | GAGAGG c.360
A V R A A Y E A F C R W R E V S A K | E R p.120
. . . . . . g.12620
AGTTCATTACTTCGGAAGTGGTACAATTTAATGATACAAAATAAGGATGACCTTGCCAGA c.420
S S L L R K W Y N L M I Q N K D D L A R p.140
. | 03 . . . . g.13336
ATAATCACAGCTGAAAGT | GGAAAGCCACTGAAGGAGGCACATGGAGAAATTCTCTATTCC c.480
I I T A E S | G K P L K E A H G E I L Y S p.160
. . . . . . g.13396
GCCTTTTTCCTAGAGTGGTTCTCTGAGGAAGCCCGCCGTGTTTACGGAGACATTATCCAC c.540
A F F L E W F S E E A R R V Y G D I I H p.180
. . . . . . g.13456
ACCCCGGCAAAGGACAGGCGGGCCCTGGTCCTCAAGCAGCCCATAGGCGTGGCTGCAGTC c.600
T P A K D R R A L V L K Q P I G V A A V p.200
| 04 . . . . . g.14951
ATCACCCCG | TGGAATTTCCCCAGTGCCATGATCACCCGGAAGGTGGGGGCCGCCCTGGCA c.660
I T P | W N F P S A M I T R K V G A A L A p.220
. . . . . . g.15011
GCCGGCTGTACTGTCGTGGTGAAGCCTGCCGAAGACACGCCCTTCTCCGCCCTGGCCCTG c.720
A G C T V V V K P A E D T P F S A L A L p.240
| 05 . . . . | 06 . . g.25213
GCTGAG | GTAAATCAGGGATTTCTTCTTGATTTGGATCCATTGTTG | CTTGCAAGCCAGGCT c.780
A E | V N Q G F L L D L D P L L | L A S Q A p.260
. . . . . . g.25273
GGGATTCCTTCAGGTGTATACAATGTTATTCCCTGTTCTCGAAAGAATGCCAAGGAAGTA c.840
G I P S G V Y N V I P C S R K N A K E V p.280
. . . . . . g.25333
GGGGAGGCAATTTGTACTGATCCTCTGGTGTCCAAAATTTCCTTTACTGGTTCAACAACT c.900
G E A I C T D P L V S K I S F T G S T T p.300
| 07 . . . . . g.30483
ACAGGAAAG | ATCCTGTTGCACCACGCAGCAAACTCTGTGAAAAGGGTCTCTATGGAGCTG c.960
T G K | I L L H H A A N S V K R V S M E L p.320
. . . . . . g.30543
GGCGGCCTTGCTCCATTTATAGTATTTGACAGTGCCAACGTGGACCAGGCTGTAGCAGGG c.1020
G G L A P F I V F D S A N V D Q A V A G p.340
. . . | 08 . . . g.32825
GCCATGGCATCTAAATTTAGGAACACTGGACAG | ACTTGTGTTTGCTCAAACCAATTCTTG c.1080
A M A S K F R N T G Q | T C V C S N Q F L p.360
. . . . . . g.32885
GTGCAAAGGGGCATCCATGATGCCTTTGTAAAAGCATTCGCCGAGGCCATGAAGAAGAAC c.1140
V Q R G I H D A F V K A F A E A M K K N p.380
. . . . . . g.32945
CTGCGCGTAGGTAATGGATTTGAGGAAGGAACTACTCAGGGCCCATTAATTAATGAAAAA c.1200
L R V G N G F E E G T T Q G P L I N E K p.400
. | 09 . . . . . g.38076
GCGGTAGAAAAG | GTGGAGAAACAGGTGAATGATGCCGTTTCTAAAGGTGCCACCGTTGTG c.1260
A V E K | V E K Q V N D A V S K G A T V V p.420
. . . . . . g.38136
ACAGGTGGAAAACGACACCAACTTGGAAAAAATTTCTTTGAGCCTACCCTGCTGTGCAAT c.1320
T G G K R H Q L G K N F F E P T L L C N p.440
. . . . . . g.38196
GTCACCCAGGACATGCTGTGCACTCATGAAGAGACTTTCGGGCCTCTGGCACCAGTTATC c.1380
V T Q D M L C T H E E T F G P L A P V I p.460
| 10 . . . . . . g.42208
AA | GTTCGATACAGAGGAGGAGGCTATAGCAATCGCTAACGCAGCTGATGTTGGGTTAGCA c.1440
K | F D T E E E A I A I A N A A D V G L A p.480
| 11 . . . . . . g.43597
G | GTTATTTTTACTCTCAAGACCCAGCCCAGATCTGGAGAGTGGCAGAGCAGCTGGAAGTG c.1500
G | Y F Y S Q D P A Q I W R V A E Q L E V p.500
. . . . . . g.43657
GGCATGGTTGGCGTCAACGAAGGATTAATTTCCTCTGTGGAGTGCCCTTTTGGTGGAGTG c.1560
G M V G V N E G L I S S V E C P F G G V p.520
. . . . . . g.43717
AAGCAGTCCGGCCTTGGGCGAGAGGGGTCCAAGTATGGCATTGATGAGTATCTGGAACTC c.1620
K Q S G L G R E G S K Y G I D E Y L E L p.540
. . g.43744
AAGTATGTGTGTTACGGGGGCTTGTAG c.1647
K Y V C Y G G L X p.548
. . . . . . g.43804
gattctttggttctttaaaaaaatttaaaaggagacttatctacatatataggtacatgc c.*60
. . . . . . g.43864
catccattattttaaataaactaataggttttcagaattatgaatttttcagaactcatc c.*120
. . . . . . g.43924
cagtccttgtaatcttaaacagatgcaaatcctacccctgcccttaatgtaactagggac c.*180
. . . . . . g.43984
caatatgtgccacgtgcctgtggctgcagactcccagagaaccagcactgggtttacaga c.*240
. . . . . . g.44044
atgaggccctggctccccaccacagccccagctgcctcagagcaggcacagcacaaggca c.*300
. . . . . . g.44104
ggcccagccccatgggccgtcacaaaggcttgatcactgcctgggcagtggcacaaccat c.*360
. . . . . . g.44164
cccccatgtcgctacagaacatgggcccagagcaccttgaaggagacccttgactgtgac c.*420
. . . . . . g.44224
tggcaggcaggtgaggggcacagcacccctccccggcatctgccagctcagcacagaaga c.*480
. . . . . . g.44284
caccgaatgtgcatctggaggtgttgcggcagaggtttgagtgaaccctctttcaaagac c.*540
. . . . . . g.44344
aataaatagcacagaattgtccgtgcttctgtgaggcacgaaggagcacctctccctatt c.*600
. . . . . . g.44404
cctgaaccatattttaattgatgcctttattgtcccaaatttaccacttaaagaattcta c.*660
. . . . . . g.44464
ttttcatttctgtcctgtttgccacttcatttcatttccttgagtaaatgagctgaagtg c.*720
. . . . . . g.44524
taaagcaaagaatagcagaagcagcttggtaggatggaaggcacgcagtggcatggcctg c.*780
. . . . . . g.44584
gctccttccctgagtggccttgttgccttgggcgtgtgttcagcacctcccatcccatgg c.*840
. . . . . . g.44644
atacagtggagattccatacaggccttacttagctccttgcgatactgtgagccagagag c.*900
. . . . . . g.44704
aaagtaaaagcacttcacaaaaaaatgaaaattctaaggacatacaagagccattgttac c.*960
. . . . . . g.44764
gagcagcaccgcccagcccttccttgcctactgtcagtggctttgccaagatgggaggag c.*1020
. . . . . . g.44824
gccagtgcccacttgcccaccgacctgagcctgagtaagtggctgtcacctgagcctgtt c.*1080
. . . . . . g.44884
ctttctgtcctggtgtggtgctgctccctcacctccaaaagagcaaaagtactttcacca c.*1140
. . . . . . g.44944
cagtcaacccaaaagggaaagaatttctgtaattgccaacccactttgtagaagaggcat c.*1200
. . . . . . g.45004
gagcccttgaatttcaggcaccttttatctaatgagagtttttacagctcatcattcaaa c.*1260
. . . . . . g.45064
taacgcacaaaaaacaaaagccgctatgaccggcgttgcctctcactttgaaagaaagac c.*1320
. . . . . . g.45124
tccgtaatcttaaacagatgcaaatccaattaggcggccaagtaggtggagacgaagcac c.*1380
. . . . . . g.45184
cttcctttccccatctctgtctgtgtagactccacttacatcttgtggttattctgggtt c.*1440
. . . . . . g.45244
gtggaaggaaaatgtgaatgaaagtagtgctggatgcaattactcctgaaccccacctag c.*1500
. . . . . . g.45304
gatttaacatccctcattgagccactgggaagctatggttgagtaactaaaggtctggca c.*1560
. . . . . . g.45364
agaccctgggcacacagggagctgcctagcatctggcctggagtgtactagccacattcc c.*1620
. . . . . . g.45424
caaggtcccaaggagaaggaagagctgaaattcatctcctagtgacagtgccccggccct c.*1680
. . . . . . g.45484
gtcaagaatcacatactcagcattttgacagttaatgtcttctctttatttgtgtagttt c.*1740
. . . . . . g.45544
ttaggtggttttatataacattttaattacttgtgatttagatgtatccatcctttttct c.*1800
. . . . . . g.45604
attaagaatacaaatgctgggctgggcacagtggctcacgcctgtaatcccaacaccttg c.*1860
. . . . . . g.45664
ggaggccaaggcaggcagatcacgacatcaggagatcgagaccatcctggctaacacggt c.*1920
. . . . . . g.45724
gaaaccccgtctctactaaaaatacaaaaaaaattagtcggatgtggtggcaggtgcctg c.*1980
. . . . . . g.45784
tagtcccagctactctggaggctgaggcaggagaatggcgtgaacccaggaggcggagct c.*2040
. . . . . . g.45844
tgcagtgagcagagatcacgccactgcactccagcctggatgacagagcgagactccgcc c.*2100
. . . . . . g.45904
tcaaaaaaagaatacaaatgctccaacattattttttataactctggattaccgatgctg c.*2160
. . . . . . g.45964
agatgtgtgcaggaatacttccaaataaatttttaacattgtaagccagtagattctttg c.*2220
. . . . . . g.46024
gctgggtggcaaattttgagtcttcttgcatatttggctcatgggttcataaattgaggc c.*2280
. . . . . . g.46084
cagagactcattgtatatccttgatcaattttctaattaaaggaaatagcttattgttta c.*2340
. . . . . . g.46144
gtaaaatggcccttggttgtgggaagaaagagaattatttttaactgaacgtttttgttg c.*2400
. . . . . . g.46204
ttttttaaataaagtagccatatgtaacgggattttaaaaatatatacattttacaacat c.*2460
. . . . . . g.46264
ggactagaaaaggaccattagatcaggggttggcaaactatggcccacgaatcaaacctg c.*2520
. . . . . . g.46324
gcctgccacctgtttttatacaacctgtgagctaagaatggtttatatgttttcaaatga c.*2580
. . . . . . g.46384
ttgggcagaaaatcaaaagaagaacaatatttcatgacacctgaaaattctatgaaattc c.*2640
. . . . . . g.46444
agatttcagtgtccataaacaaaatgttattagagcatagccacacccattcatttatgg c.*2700
. . . . . . g.46504
tattgtctgggactgctttcttggcagagttgaatagttgggacagggacagtatagcct c.*2760
. . . . . . g.46564
gcaaagcctaaaagatttactacttgtctccttaaagaaaaagtttgccagctcctgatc c.*2820
. . . . . . g.46624
tagaccaagagggagatattgaccttacttgcatttatccggcattatttcaacacctcc c.*2880
. . . . . . g.46684
tgtgaagaaagtacttttctggcatagctaccgtgagttctcagcaggaacttcccagcg c.*2940
. . . . . . g.46744
atgataatgtacatgaaattagccacgtaacaagagtctatttgccttgaaaaaacaatt c.*3000
. . . . . . g.46804
atccttgaacttcctccagctatgcagggattctcattaaagagctgatctgcatctgtt c.*3060
. . . . . . g.46864
tatccattttagtagcttttaaatatgattttatgtgaagtgccatttctttattctact c.*3120
. . . . . . g.46924
aaagagagacagcagaaataaagatcagaagcaaatgtgagcaaatctgttttactgtta c.*3180
. . . . . . g.46984
acttcaattatgaacttgaaattgtgccacatgactttttcctctaaaaactggatccta c.*3240
. . . . . . g.47044
gtgttttaattacctgtgtgcagctattttaaatagcattttacttgaataatatgtatg c.*3300
. . . . . . g.47104
ttgtcattgtttcatgctatactttgtgggataaaacttgggaatgagtgtggtaagaaa c.*3360
. . . . . . g.47164
tttataaagttttgcttttaaaacgtggacataactcatttttctagtttttgacaattg c.*3420
. . . . . . g.47224
tgtgttttagtgtctagtctgcagagagctgtgtgattaataaacgtggaattaacagaa c.*3480
. g.47239
tttcctctccctgta c.*3495
(downstream sequence)
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