(used for variant description)
(last modified September 13, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_002860.3 in the ALDH18A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012258.1, covering ALDH18A1 transcript NM_002860.3.
(upstream sequence)
g.5002
cg c.-241
. . . . . . g.5062
ccattgccgcgccgcagctccaggacaggccctcgccccacgtcaacagcgtagggccgg c.-181
. . . . . . g.5122
ctgcccaggtttactcttacgccactgacgtaacgtcatcgtgcgggacgtggacggaag c.-121
. . . . . . g.5182
aaaaaagagagtgagcgagcgccggaatcagcccggcgtggagtgcggacccgcggtagt c.-61
. . . . | 02 . . g.8433
gccagggggcgaaggcggcggtggtgaggaag | atactttggttagtgaccacatcgcagc c.-1
. . . . . . g.8493
ATGTTGAGTCAAGTTTACCGCTGTGGGTTCCAGCCCTTCAACCAACATCTTCTGCCCTGG c.60
M L S Q V Y R C G F Q P F N Q H L L P W p.20
. . | 03 . . . g.18636
GTCAAGTGTACAACCGTCTTCAGATCTC | ATTGTATCCAGCCTTCAGTCATCAGACATGTT c.120
V K C T T V F R S H | C I Q P S V I R H V p.40
. . . . . . g.18696
CGTTCTTGGAGCAACATCCCGTTTATCACTGTACCCCTCAGTCGTACACATGGCAAGTCC c.180
R S W S N I P F I T V P L S R T H G K S p.60
. . . . . . g.18756
TTCGCCCACCGCAGTGAGCTGAAGCATGCCAAGAGAATCGTGGTGAAGCTCGGCAGTGCC c.240
F A H R S E L K H A K R I V V K L G S A p.80
. . . . . . g.18816
GTGGTGACCCGAGGGGATGAATGTGGCCTGGCCCTGGGGCGCTTGGCATCTATTGTTGAG c.300
V V T R G D E C G L A L G R L A S I V E p.100
| 04 . . . . . . g.24431
CAG | GTATCAGTGCTGCAGAATCAGGGCAGAGAGATGATGCTGGTGACCAGTGGAGCCGTA c.360
Q | V S V L Q N Q G R E M M L V T S G A V p.120
. . . . . . g.24491
GCCTTTGGCAAACAACGCTTGCGCCATGAGATCCTTCTGTCTCAGAGCGTGCGGCAGGCC c.420
A F G K Q R L R H E I L L S Q S V R Q A p.140
. . . | 05 . . . g.24640
CTCCACTCGGGGCAGAACCAGCTGAAAGAAATG | GCAATTCCAGTCTTAGAGGCACGAGCC c.480
L H S G Q N Q L K E M | A I P V L E A R A p.160
. . . . . . g.24700
TGTGCAGCTGCCGGACAGAGTGGGCTGATGGCCTTGTATGAGGCTATGTTTACCCAGTAC c.540
C A A A G Q S G L M A L Y E A M F T Q Y p.180
. | 06 . . . . g.28203
AGCATCTGTGCTGCCCAG | ATTTTGGTGACCAATTTGGATTTCCATGATGAGCAGAAGCGC c.600
S I C A A Q | I L V T N L D F H D E Q K R p.200
. . . . . . g.28263
CGGAACCTCAATGGAACACTTCATGAACTCCTTAGAATGAACATTGTCCCCATTGTCAAC c.660
R N L N G T L H E L L R M N I V P I V N p.220
. . . . . | 07. g.28764
ACAAATGATGCTGTTGTCCCCCCAGCTGAGCCCAACAGTGACCTGCAGGGGGTAAAT | GTT c.720
T N D A V V P P A E P N S D L Q G V N | V p.240
. . . . . . g.28824
ATTAGTGTTAAAGATAATGATAGCCTGGCTGCCCGACTGGCTGTGGAAATGAAAACTGAT c.780
I S V K D N D S L A A R L A V E M K T D p.260
. . | 08 . . . g.33350
CTCTTGATTGTTCTTTCAGATGTAGAAG | GCCTTTTTGACAGCCCCCCAGGTTCAGATGAT c.840
L L I V L S D V E G | L F D S P P G S D D p.280
. . . . . . g.33410
GCAAAGCTTATTGATATATTTTATCCCGGAGATCAGCAGTCTGTGACATTTGGAACCAAG c.900
A K L I D I F Y P G D Q Q S V T F G T K p.300
. . . | 09 . . . g.34251
TCTAGAGTGGGAATGGGTGGCATGGAAGCCAAG | GTGAAAGCAGCCCTCTGGGCTTTGCAA c.960
S R V G M G G M E A K | V K A A L W A L Q p.320
. . . . . . g.34311
GGTGGCACTTCTGTTGTTATTGCCAATGGAACCCACCCAAAGGTGTCTGGGCACGTCATC c.1020
G G T S V V I A N G T H P K V S G H V I p.340
. . . . . | 10 g.35036
ACAGACATTGTGGAGGGGAAGAAAGTTGGTACCTTCTTTTCAGAAGTAAAGCCTGCAG | GC c.1080
T D I V E G K K V G T F F S E V K P A G | p.360
. . . . . . g.35096
CCTACTGTTGAGCAGCAGGGAGAAATGGCGCGATCTGGAGGAAGGATGTTGGCCACCTTG c.1140
P T V E Q Q G E M A R S G G R M L A T L p.380
. | 11 . . . . . g.36403
GAACCTGAGCAG | AGAGCAGAAATTATCCATCATCTGGCTGATCTGTTGACGGACCAGCGT c.1200
E P E Q | R A E I I H H L A D L L T D Q R p.400
. . . . | 12 . . g.40573
GATGAGATCCTGTTAGCCAACAAAAAAGACTTGGAGGAGGCAGAGG | GGAGACTTGCAGCT c.1260
D E I L L A N K K D L E E A E G | R L A A p.420
. . . . . . g.40633
CCTCTGCTGAAACGTTTAAGCCTCTCCACATCCAAATTGAACAGCCTGGCCATCGGTCTG c.1320
P L L K R L S L S T S K L N S L A I G L p.440
. . . . . . g.40693
CGACAGATCGCAGCCTCCTCCCAGGACAGCGTGGGACGTGTTTTGCGCCGCACCCGAATC c.1380
R Q I A A S S Q D S V G R V L R R T R I p.460
. . . . . . g.40753
GCCAAAAACTTGGAACTGGAACAAGTGACTGTCCCAATTGGAGTTCTGCTGGTGATCTTT c.1440
A K N L E L E Q V T V P I G V L L V I F p.480
. . | 13. . . . g.45229
GAATCTCGTCCTGACTGTCTACCCCAG | GTGGCAGCTTTGGCTATCGCAAGTGGCAATGGC c.1500
E S R P D C L P Q | V A A L A I A S G N G p.500
. . . . . . g.45289
TTGTTACTCAAAGGAGGGAAGGAGGCTGCACACAGCAACCGGATTCTCCACCTCCTGACC c.1560
L L L K G G K E A A H S N R I L H L L T p.520
. . . . | 14 . . g.47664
CAGGAGGCTCTCTCAATCCATGGAGTCAAGGAGGCCGTGCAACTG | GTGAATACCAGAGAA c.1620
Q E A L S I H G V K E A V Q L | V N T R E p.540
. . . . . . g.47724
GAAGTTGAAGATCTTTGCCGCCTAGACAAAATGATAGATCTGATCATTCCACGTGGCTCT c.1680
E V E D L C R L D K M I D L I I P R G S p.560
. . . . . . g.47784
TCCCAGCTGGTCAGAGACATCCAGAAAGCTGCTAAGGGGATTCCAGTGATGGGGCACAGC c.1740
S Q L V R D I Q K A A K G I P V M G H S p.580
. . . . . . g.47844
GAAGGGATCTGTCACATGTATGTGGATTCCGAGGCCAGTGTTGATAAGGTCACCAGGCTA c.1800
E G I C H M Y V D S E A S V D K V T R L p.600
| 15 . . . . . . g.48006
G | TCAGAGACTCTAAATGTGAATATCCAGCTGCCTGTAATGCTTTGGAGACTTTGTTAATC c.1860
V | R D S K C E Y P A A C N A L E T L L I p.620
. . . . . . g.48066
CACCGGGATCTGCTCAGGACACCATTATTTGACCAGATCATTGATATGCTGAGAGTGGAA c.1920
H R D L L R T P L F D Q I I D M L R V E p.640
| 16 . . . . . . g.50425
CAG | GTAAAAATTCATGCAGGCCCCAAATTTGCCTCCTATCTGACCTTCAGCCCCTCCGAA c.1980
Q | V K I H A G P K F A S Y L T F S P S E p.660
. . . . . . g.50485
GTGAAGTCACTCCGAACTGAGTATGGGGACCTGGAATTATGCATTGAAGTAGTGGACAAC c.2040
V K S L R T E Y G D L E L C I E V V D N p.680
. . . . . . g.50545
GTTCAGGATGCCATTGACCACATCCACAAGTATGGCAGCTCCCACACGGATGTCATCGTC c.2100
V Q D A I D H I H K Y G S S H T D V I V p.700
. | 17 . . . . . g.51568
ACAGAGGACG | AAAACACAGCGGAGTTCTTCCTGCAGCACGTAGACAGTGCCTGTGTGTTC c.2160
T E D E | N T A E F F L Q H V D S A C V F p.720
. . . . | 18 . . g.54881
TGGAATGCCAGCACTCGCTTTTCTGATGGTTACCGCTTTGGACTGG | GAGCTGAAGTGGGA c.2220
W N A S T R F S D G Y R F G L G | A E V G p.740
. . . . . . g.54941
ATCAGTACATCGAGAATCCACGCCCGGGGACCAGTAGGACTTGAGGGACTGCTTACTACT c.2280
I S T S R I H A R G P V G L E G L L T T p.760
. . . . . . g.55001
AAGTGGCTGCTGCGAGGGAAGGACCACGTGGTCTCAGATTTCTCAGAGCATGGAAGTTTA c.2340
K W L L R G K D H V V S D F S E H G S L p.780
. . . . g.55049
AAATATCTTCATGAGAACCTCCCTATTCCTCAGAGAAACACCAACTGA c.2388
K Y L H E N L P I P Q R N T N X p.795
. . . . . . g.55109
aaagagccaggaaaacccgggaattttccaaaaggtcttcacgttaaacttgtcttatct c.*60
. . . . . . g.55169
caggagagagcccgctcttgtctcccagttcctggtagggtctgcctgttggaaagtgta c.*120
. . . . . . g.55229
cctggatgcttctgggctccgtttggcaatagcagtcttggctgatgtgcacagtctggc c.*180
. . . . . . g.55289
tcccagctcaccctttttttttaaagtaagaaaatagttgctaccgatagggactttgcc c.*240
. . . . . . g.55349
aagtccaattatcttctaggattgaaaggtgcattttccccataaaaaaggcgaggaaaa c.*300
. . . . . . g.55409
cccatggctgctttgtgtcacctcagtgacttacagtcccccttggcatttagttggtac c.*360
. . . . . . g.55469
tagagccagtcatccttaacaaatcttttcacattttatttctttcacatgtagtcatct c.*420
. . . . . . g.55529
tcaaaaaggaaagatttggaattttagaaaaggggcaactcttctttttagcattctcat c.*480
. . . . . . g.55589
cagaaagtcacaaaaatcgatggaatcatttccactgggaagattgaccttttgtattta c.*540
. . . . . . g.55649
tttgtggggtaaattaataagcattccagatgcttgcagcttcctgcatccaggagatgc c.*600
. . . . . . g.55709
tgtgttccccgtgatgcagctggaacccaagctgcagcaggagatgcaagtttcaggatg c.*660
. . . . . . g.55769
ttccccactgagctggaggaatatctacagcagtgatgcttgaaatttttgtatgaatta c.*720
. . . . . . g.55829
ttttgtcgtcctacccttttcctccaaaacaaaaattagaggattattttaatactttgg c.*780
. . . . . g.55882
attcttcccccttttttgagaaataaagttttttatgaaaagcctgtgcgtga c.*833
(downstream sequence)
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