(used for variant description)
(last modified March 12, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001182.4 in the ALDH7A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering ALDH7A1 transcript NM_001182.4.
(upstream sequence)
. g.5012
gtagcactccca c.-181
. . . . . . g.5072
ttgttccaggcaggattcagccgcaggctcctccggaagaccaggggcagacggggcggt c.-121
. . . . . . g.5132
ggcggggtcgtgcccagtgggaggggtcgggtctgcccaatgggttctcccgggcggggg c.-61
. . . . . . g.5192
gcggggctctatttcagcagctctcagggccttgggctcatcccgagtcccgggctcagt c.-1
. . . . . . g.5252
ATGTGGCGCCTTCCTCGCGCGCTGTGTGTGCACGCTGCAAAGACCAGCAAGCTCTCTGGA c.60
M W R L P R A L C V H A A K T S K L S G p.20
. . . . . . g.5312
CCTTGGAGCAGGCCTGCCGCCTTCATGTCCACTCTCCTCATCAATCAGCCCCAGTATGCG c.120
P W S R P A A F M S T L L I N Q P Q Y A p.40
. . . . . . g.5372
TGGCTGAAAGAGCTGGGGCTCCGCGAGGAAAACGAGGGCGTGTATAATGGAAGCTGGGGA c.180
W L K E L G L R E E N E G V Y N G S W G p.60
. | 02 . . . . . g.7034
GGCCGGGGAGAG | GTTATTACGACCTATTGCCCTGCTAACAACGAGCCAATAGCAAGAGTC c.240
G R G E | V I T T Y C P A N N E P I A R V p.80
| 03 . . . . . . g.7715
CGACAG | GCCAGTGTGGCAGACTATGAAGAAACTGTAAAGAAAGCAAGAGAAGCATGGAAA c.300
R Q | A S V A D Y E E T V K K A R E A W K p.100
. | 04 . . . . . g.16426
ATCTGGGCAGAT | ATTCCTGCTCCAAAACGAGGAGAAATAGTAAGACAGATTGGCGATGCC c.360
I W A D | I P A P K R G E I V R Q I G D A p.120
. . . | 05 . . . g.17443
TTGCGGGAGAAGATCCAAGTACTAGGAAGCTTG | GTGTCTTTGGAGATGGGGAAAATCTTA c.420
L R E K I Q V L G S L | V S L E M G K I L p.140
. . . . . . g.17503
GTGGAAGGTGTGGGTGAAGTTCAGGAGTATGTGGATATCTGTGACTATGCTGTTGGTTTA c.480
V E G V G E V Q E Y V D I C D Y A V G L p.160
. . . | 06. . . g.23202
TCAAGGATGATTGGAGGACCTATCTTGCCTTCTGAAA | GATCTGGCCATGCACTGATTGAG c.540
S R M I G G P I L P S E R | S G H A L I E p.180
. . . . . . g.23262
CAGTGGAATCCCGTAGGCCTGGTTGGAATCATCACGGCATTCAATTTCCCTGTGGCAGTG c.600
Q W N P V G L V G I I T A F N F P V A V p.200
. . . . . | 07 . g.24936
TATGGTTGGAACAACGCCATCGCCATGATCTGTGGAAATGTCTGCCTCTG | GAAAGGAGCT c.660
Y G W N N A I A M I C G N V C L W | K G A p.220
. . . | 08 . . . g.29556
CCAACCACTTCCCTCATTAGTGTGGCTGTCACAAA | GATAATAGCCAAGGTTCTGGAGGAC c.720
P T T S L I S V A V T K | I I A K V L E D p.240
. . . . . | 09 . g.32041
AACAAGCTGCCTGGTGCAATTTGTTCCTTGACTTGTGGTGGAGCAGATATTGG | CACAGCA c.780
N K L P G A I C S L T C G G A D I G | T A p.260
. . . . . . g.32101
ATGGCCAAAGATGAACGAGTGAACCTGCTGTCCTTCACTGGGAGCACTCAGGTGGGAAAA c.840
M A K D E R V N L L S F T G S T Q V G K p.280
. . . | 10 . . . g.39295
CAGGTGGGCCTGATGGTGCAGGAGAGGTTTG | GGAGAAGTCTGTTGGAACTTGGAGGAAAC c.900
Q V G L M V Q E R F G | R S L L E L G G N p.300
. | 11 . . . . . g.41103
AATGCCATTATTG | CCTTTGAAGATGCAGACCTCAGCTTAGTTGTTCCATCAGCTCTCTTC c.960
N A I I A | F E D A D L S L V V P S A L F p.320
. . . . | 12 . g.44387
GCTGCTGTGGGAACAGCTGGCCAGAGGTGTACCACTGCGAGGCGACTG | TTTATACATGAA c.1020
A A V G T A G Q R C T T A R R L | F I H E p.340
. . . . . . g.44447
AGCATCCATGATGAGGTTGTAAACAGACTTAAAAAGGCCTATGCACAGATCCGAGTTGGG c.1080
S I H D E V V N R L K K A Y A Q I R V G p.360
. | 13 . . . . . g.46044
AACCCATGGGACC | CTAATGTTCTCTATGGGCCACTCCACACCAAGCAGGCAGTGAGCATG c.1140
N P W D P | N V L Y G P L H T K Q A V S M p.380
. . . . . . g.46104
TTTCTTGGAGCAGTGGAAGAAGCAAAGAAAGAAGGTGGCACAGTGGTCTATGGGGGCAAG c.1200
F L G A V E E A K K E G G T V V Y G G K p.400
| 14 . . . . . . g.48313
| GTTATGGATCGCCCTGGAAATTATGTAGAACCGACAATTGTGACAGGTCTTGGCCACGAT c.1260
| V M D R P G N Y V E P T I V T G L G H D p.420
. . . . . | 15. g.50100
GCGTCCATTGCACACACAGAGACTTTTGCTCCGATTCTCTATGTCTTTAAATTCAAG | AAT c.1320
A S I A H T E T F A P I L Y V F K F K | N p.440
. . . . . . g.50160
GAAGAAGAGGTCTTTGCATGGAATAATGAAGTAAAACAGGGACTTTCAAGTAGCATCTTT c.1380
E E E V F A W N N E V K Q G L S S S I F p.460
. . . | 16 . . . g.50413
ACCAAAGATCTGGGCAGAATCTTTCGCTGGCTTGG | ACCTAAAGGATCAGACTGTGGCATT c.1440
T K D L G R I F R W L G | P K G S D C G I p.480
. . . . | 17 . g.54002
GTAAATGTCAACATTCCAACAAGTGGGGCTGAGATTGGAGGTGCCTTTG | GAGGAGAAAAG c.1500
V N V N I P T S G A E I G G A F G | G E K p.500
. . . . . . g.54062
CACACTGGTGGTGGCAGGGAGTCTGGCAGTGATGCCTGGAAACAGTACATGAGAAGGTCT c.1560
H T G G G R E S G S D A W K Q Y M R R S p.520
| 18 . . . . . . g.55426
ACTTG | TACTATCAACTACAGTAAAGACCTTCCTCTGGCCCAAGGAATCAAGTTTCAGTAA c.1620
T C | T I N Y S K D L P L A Q G I K F Q X p.539
. . . . . . g.55486
aggtgttttagatgaacatcccttaatttgaggtgttccagcagctgtttttggagaaga c.*60
. . . . . . g.55546
caaagaaaattaaagttttccctgaataaatgcattattatgactgtgacagtgactaat c.*120
. . . . . . g.55606
ccccctatgaccccaaagccctgattaaatcaagagattccttttttaaaaatcaaaata c.*180
. . . . . . g.55666
aaattgttacaacatagccatagttactaaaagatgagttaggtggatttttattatgtc c.*240
. . . . . . g.55726
aactagttgtacatggctttttaaaagttaatgattattttgtaattagaaaaaaatagt c.*300
. . . . . . g.55786
acgtaccagggtaggaatttgggaaaatacagaaccgaggagaaaacagaagtctttgca c.*360
. . . . . . g.55846
gtagatacagggtgtctcctgaccaagtgaaggattcaggggcggggggtgaatattgct c.*420
. . . . . . g.55906
tgacattacccacctatggcatgtgttggatgtcgtgtgattgaaagggggatgcattcc c.*480
. . . . . . g.55966
cctgtatgcttggaccacagttcagtattcatgtggaataacttgcagtgcttaaaatga c.*540
. . . . . . g.56026
caacaggcattcatcacagttatggctcttgcttatgaaggctgtgtcaacttggaagag c.*600
. . . . . . g.56086
atttctggggtagacagattttgttcctgtgctggagtctgccacctgctggaggactct c.*660
. . . . . . g.56146
gaggccaaaattgcccgtgcagagttgtatagaaaatgcgtctggaggctgggcaaggtg c.*720
. . . . . . g.56206
gcttacgcctataatcccagcactttgagaggccgaggcgggtggatcagtagaggctag c.*780
. . . . . . g.56266
gagtttgagaccagcctggccgatatcgtgaaaccccgtctttaccaaaaaatacaaaaa c.*840
. . . . . . g.56326
ttagcccagtgtggtggcaggcacctgtaatcccagctattagggaggctgaggcaggag c.*900
. . . . . . g.56386
aattgtgtgaacccaggaggcagaggttgcagtgagcctagattgtgccactgcctgggc c.*960
. . . . . . g.56446
aacagtgagatcctgtctacaaaaaaaaaaaaaaaaaaaagtgcatctggatttttttat c.*1020
. . . . . . g.56506
acaaccttagaccaccttctttagctttaggcgtctgcggttgcccttggatctgttctc c.*1080
. . . . . . g.56566
aatcctcagtgtgtgtggcagcatgtggtcatagagagctgggcaaagttcactttctct c.*1140
. . . . . . g.56626
ttgctgacagtctcaccttttctcactgggaagctgcacaggagcctttgggctggttca c.*1200
. . . . . . g.56686
gcccagaggcccctgttctcctgccttcctggcattctctgctccccttctgcatggcac c.*1260
. . . . . . g.56746
ccctctactcctgccaggttagaatggagcagaggcctttgaacaagatgacatttgtag c.*1320
. . . . . . g.56806
acaacctgatccatcaggatgtggagagatctggacaaatggcaaataatttggggttga c.*1380
. . . . . . g.56866
attatggcccagagaagtaagcaaatgaaaaactaaacaattataaatgtatctgggaag c.*1440
. . . . . . g.56926
caaaggtattcataatatgtcccatggccagctgcgagcagtatttaactagacatgctg c.*1500
. . . . . . g.56986
ttgtcaatattgaacatgaatcaagccaaatactgatatagctattgagagaaggttggc c.*1560
. . . . . . g.57046
aggaagaaatcatgggtgagggtatgtgggagtgataatcttagctatagattttaggta c.*1620
. . . . . . g.57106
aaactgattctgaaagctttctttgaaacaaatttataatttttcttctacatgtttcta c.*1680
. . . . . . g.57166
gcacaaggactcaattttttttggttataatgttcattaaaacatatgccttcaatttgt c.*1740
. . . . . . g.57226
tcctctttgttcttttttgctgatttagcagatataaatcacttgttagtatttttaact c.*1800
. . . . . . g.57286
atccaagttaaaatgtacatttgtaagtgttattactggtcttatatttgaaggtgcaag c.*1860
. . . . . . g.57346
gggtcttgtgctgctcattactggttatcttgagcatttcataactgctgcctcctccta c.*1920
. . . . . . g.57406
aatcctgtgttccaaccgctactgctggcaatgcccagcctccattgtggatgcggggaa c.*1980
. . . . . . g.57466
ttgtgttcagcatgcttgcttctgccacggcactaaagcctaacttgcttaggatcttgc c.*2040
. . . . . . g.57526
tgtacttggagagagcatccattcgctgagcctagcagccaggctcttgtgactccctgg c.*2100
. . . . . . g.57586
gaagtgggtgaagacctggctcctggctgcagcagtgaggaggcaggccctccaggtgaa c.*2160
. . . . . . g.57646
gacttctcacaatggagggaaggcagttttctcaaaggaaattgagtgctattatgtact c.*2220
. . . . . . g.57706
ctgcttcctactttctctttcagggtgggaatctgttaagcctcctctctctcttgctct c.*2280
. . . . . . g.57766
gcaaccacagaacacttctttttttttggtgtctcagttttgcccacactggagtgcagt c.*2340
. . . . . . g.57826
ggtgcaatagtggctcactgcagcctccaactcctgggctcaatctatccttccacctca c.*2400
. . . . . . g.57886
tgctccccagtagctgggactacaggtgcatgccactgtgcccagctgattattattttt c.*2460
. . . . . . g.57946
ttttgtaaagattgggtcatactacattgctcatgctcgtcttgaacttgtggcctcaag c.*2520
. . . . . . g.58006
cgatcctcctgcctcagcctcttgagttgttgggattacaggagtgtgccaccatgccca c.*2580
. . . . . . g.58066
gctctgtggaaaattctctgtggcattctgtctcctgaaaatgctgaagggaccaagagg c.*2640
. . . . . . g.58126
gctctgtgtccttcctcttctcttccctggcactttcagaccattttcttgttgccttca c.*2700
. . . . . . g.58186
ttctaacaaaggttgcagattggaaagctgatttggaatgctttttaagtgttttcagtt c.*2760
. . . . . . g.58246
tcaatatttttatgaaattcctatggtctccaacaaacttttttttttttttttttttct c.*2820
. . . . . . g.58306
acacctggagcttatcctgcagaagcttcctgccaatgattgttttggaggaaattaaaa c.*2880
. . . . . . g.58366
gaaaaccaaacgaaacctctcctatccaaggggaagaactttatccccatattgattgaa c.*2940
. . . . . . g.58426
tataggattctagatttaaaatgttgtaggcagttagagtttgctctttttttttttcta c.*3000
. . . . . . g.58486
ttggaaaggtccacaaatgttttattgacatttttgtctttaatccatttggatttgggg c.*3060
. . . . . . g.58546
tacatgttacgatttgtctacgttaatttcccttttaaaaataaaaataattcctcaact c.*3120
g.58550
ccaa c.*3124
(downstream sequence)
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