(used for variant description)
(last modified February 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_014336.3 in the AIPL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008474.1, covering AIPL1 transcript NM_014336.3.
(upstream sequence)
. . . g.5035
gctgggtaaatcccagagtctcagccgcctaagtg c.-61
. . . . . . g.5095
tcttccccggaggtgagattatctccgcctgtgctggacacctccctttctcctgcagcc c.-1
. . . . . . g.5155
ATGGATGCCGCTCTGCTCCTGAACGTGGAAGGGGTCAAGAAAACCATTCTGCACGGGGGC c.60
M D A A L L L N V E G V K K T I L H G G p.20
. . . | 02 . . . g.6125
ACGGGCGAGCTCCCAAACTTCATCACCGGATCCCGA | GTGATCTTTCATTTCCGCACCATG c.120
T G E L P N F I T G S R | V I F H F R T M p.40
. . . . . . g.6185
AAATGTGATGAGGAGCGGACAGTCATTGACGACAGTCGGCAGGTGGGCCAGCCCATGCAC c.180
K C D E E R T V I D D S R Q V G Q P M H p.60
. . . . . . g.6245
ATCATCATCGGAAACATGTTCAAGCTCGAGGTCTGGGAGATCCTGCTTACCTCCATGCGG c.240
I I I G N M F K L E V W E I L L T S M R p.80
. . . | 03 . . . g.11717
GTGCACGAGGTGGCCGAGTTCTGGTGCGACACCATC | CACACGGGGGTCTACCCCATCCTA c.300
V H E V A E F W C D T I | H T G V Y P I L p.100
. . . . . . g.11777
TCCCGGAGCCTGAGGCAGATGGCCCAGGGCAAGGACCCCACAGAGTGGCACGTGCACACG c.360
S R S L R Q M A Q G K D P T E W H V H T p.120
. . . . . . g.11837
TGCGGGCTGGCCAACATGTTCGCCTACCACACGCTGGGCTACGAGGACCTGGACGAGCTG c.420
C G L A N M F A Y H T L G Y E D L D E L p.140
. . . . | 04 . . g.13157
CAGAAGGAGCCTCAGCCTCTGGTCTTTGTGATCGAGCTGCTGCAG | GTTGATGCCCCGAGT c.480
Q K E P Q P L V F V I E L L Q | V D A P S p.160
. . . . . . g.13217
GATTACCAGAGGGAGACCTGGAACCTGAGCAATCATGAGAAGATGAAGGCGGTGCCCGTC c.540
D Y Q R E T W N L S N H E K M K A V P V p.180
. . . . . . g.13277
CTCCACGGAGAGGGAAATCGGCTCTTCAAGCTGGGCCGCTACGAGGAGGCCTCTTCCAAG c.600
L H G E G N R L F K L G R Y E E A S S K p.200
. . . . | 05 . . g.13461
TACCAGGAGGCCATCATCTGCCTAAGGAACCTGCAGACCAAG | GAGAAGCCATGGGAGGTG c.660
Y Q E A I I C L R N L Q T K | E K P W E V p.220
. . . . . . g.13521
CAGTGGCTGAAGCTGGAGAAGATGATCAATACTCTGATCCTCAACTACTGCCAGTGCCTG c.720
Q W L K L E K M I N T L I L N Y C Q C L p.240
. . . . . . g.13581
CTGAAGAAGGAGGAGTACTATGAGGTGCTGGAGCACACCAGTGATATTCTCCGGCACCAC c.780
L K K E E Y Y E V L E H T S D I L R H H p.260
| 06 . . . . . . g.14425
CCAG | GCATCGTGAAGGCCTACTACGTGCGTGCCCGGGCTCACGCAGAGGTGTGGAATGAG c.840
P G | I V K A Y Y V R A R A H A E V W N E p.280
. . . . . . g.14485
GCCGAGGCCAAGGCGGACCTCCAGAAAGTGCTGGAGCTGGAGCCGTCCATGCAGAAGGCG c.900
A E A K A D L Q K V L E L E P S M Q K A p.300
. . . . . . g.14545
GTGCGCAGGGAGCTGAGGCTGCTGGAGAACCGCATGGCGGAGAAGCAGGAGGAGGAGCGG c.960
V R R E L R L L E N R M A E K Q E E E R p.320
. . . . . . g.14605
CTGCGCTGCCGGAACATGCTGAGCCAGGGTGCCACGCAGCCTCCCGCAGAGCCACCCACA c.1020
L R C R N M L S Q G A T Q P P A E P P T p.340
. . . . . . g.14665
GAGCCACCCGCACAGTCATCCACAGAGCCACCTGCAGAGCCACCCACAGCACCATCTGCA c.1080
E P P A Q S S T E P P A E P P T A P S A p.360
. . . . . . g.14725
GAGCTGTCCGCAGGGCCCCCTGCAGAGCCAGCCACAGAGCCACCCCCGTCCCCAGGGCAC c.1140
E L S A G P P A E P A T E P P P S P G H p.380
. g.14740
TCGCTGCAGCACTGA c.1155
S L Q H X p.384
. . . . . . g.14800
gccccctgaggcccacagccacccaggcagggagcaagtggcctggtcacttctggttcg c.*60
. . . . . . g.14860
attgaccaggatcgtggtgtcactttttaaaatttaaaattaatttttgaaatcaaagtc c.*120
. . . . . . g.14920
agacacacccatggtaaaaaaaaaaaaaaaaacaatcccaagggtacagaagagcttatg c.*180
. . . . . . g.14980
aataaaagtagttttctcctctacccctctcattccttccgtgccatggttttaattgac c.*240
. . . . . . g.15040
cctgtttttaattcttctggtagttttctctatttccaagtaatctgtttaaatcagttt c.*300
. . . . . . g.15100
ctagattttaccccatgtcaatgacaaatgaggatttgatgctctgatcctttctcatgc c.*360
. . . . . . g.15160
ctgatacccctccctgtctccccattttggatagttacatttgggggtcatctcggtgat c.*420
. . . . . . g.15220
ttttgtaactttacgcaggacacttagagctctctagaatcccactgactttagtgggtc c.*480
. . . . . . g.15280
ttgatgtagggtgggcaagccccgacactggagcttagcctgagagggttcttggcctcc c.*540
. . . . . . g.15340
cccaggaaagatttcaaaggcaagcgccagtggtagggtagaagaaaacagctgtggtcg c.*600
. . . . . . g.15400
ggcacggtggctcacgcctataatcccagcactttgggaggccgaggcgggtggatcacc c.*660
. . . . . . g.15460
tgaggtcaggagttccagaccagcctggccaacatggtgaaacctcatctctactaaaaa c.*720
. . . . . . g.15520
tacaaaaaaactagctgggcgtggtggcgggcgcctataatcccagctacttgggaggct c.*780
. . . . . . g.15580
gaggcaggagaattgattgaacctgggaggcggaggttgcagtgagccaagatcacgtca c.*840
. . . . . . g.15640
ttgcactccagcctggtcaacaagagtaaaacttcatctcaaaaaacaaaacaaaacaaa c.*900
. . . . . . g.15700
aacaacaacaaaaaacaaaagaaaaacaaacaaaaccaaaaccaaaacagctgtattgaa c.*960
. . . . . . g.15760
gctgcagtgttgcagctctgtgactgccctgcagagcagggctaccccataggcagcgag c.*1020
. . . . . . g.15820
cagcagctcagggcagttctgcagtcagatttatacccacttttaattacatgtagatta c.*1080
. . . . . . g.15880
aggagctgcatatacaaagatttctagggaaggagtagtaacttctgggtcctggggtct c.*1140
. . . . . . g.15940
ttgccacggaacagggcagtatgccagggtgttgccacggcaatggtaaactgacatggc c.*1200
. . . . . . g.16000
accctgggggtcatgccttagggaaagccgcttccactcgcccctgttttagctcatctt c.*1260
. . . . . . g.16060
caagttagtctggtgtccaagctccaccgcctgcctcagtctggtgacctccttctgtgt c.*1320
. . . . . . g.16120
ctgatgagcatggcagcgttgggaccttccccttccaactctctccctcctcttcgtcct c.*1380
. . . . . . g.16180
ccctaaaggacgggtacgaggaggggctatcacgccagcgacatcctctagcaccaccca c.*1440
. . . . . . g.16240
ggtgtgtggggtggggcaggggggcgacgaagtatccagcccagggccacgtagtcaact c.*1500
. . . . . . g.16300
gccaagggcttcctgggcttctcttctgccccagagcttgtctccacccagcaggggttc c.*1560
. . . . . . g.16360
ccccagcgctaactgtatccctaaagttctgatgtactttacttttccatcttccttgtt c.*1620
. . . . . . g.16420
gttaacatctaccttctgctctgtaagcaaaactaaatcttctgtgctttgtccataggt c.*1680
. . . . g.16461
tgattctacaatctgaaaatcaataaacagcatttgcatga c.*1721
(downstream sequence)
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