(used for variant description)
(last modified February 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001134831.1 in the AHI1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008643.1, covering AHI1 transcript NM_001134831.1.
(upstream sequence)
. . g.5024
ggcggcgcgctgtccgcactgcgg c.-361
. . . . . . g.5084
cacagagccgcggcttgctttcaggacacgggtcgctggcgggttaggtggctgcgtggc c.-301
. . . . . . g.5144
cgcctcacttcgcgcacgcgccgctaggctgggggagttgatttgcactgctccgggtgt c.-241
. . . . | 02 . g.5537
cggctccggcgggacgggcggttctgcgtacccctctcc | agtgtcaacctggggctgaat c.-181
. . . . . | 03 . g.6886
cttcaacctgtcaaagccttcttaattatgtctgagaaaag | tactaaaataggtgccatt c.-121
. . . . . . g.6946
ttaaattcccagacaaggaaaaaccaaggattagaaattaagtagcttgcccaaggccac c.-61
. | 04 . . . . . g.10528
acatca | gatcctgattgagtcaatgctttgcattctcagtcctctgcataaagctgagag c.-1
. | 05 . . . . . g.12068
ATGCCTACAG | CTGAGAGTGAAGCAAAAGTAAAAACCAAAGTTCGCTTTGAAGAATTGCTT c.60
M P T A | E S E A K V K T K V R F E E L L p.20
. . . . . . g.12128
AAGACCCACAGTGATCTAATGCGTGAAAAGAAAAAACTGAAGAAAAAACTTGTCAGGTCT c.120
K T H S D L M R E K K K L K K K L V R S p.40
. | 06 . . . . . g.35176
GAAGAAAACATCTCA | CCTGACACTATTAGAAGCAATCTTCACTATATGAAAGAAACTACA c.180
E E N I S | P D T I R S N L H Y M K E T T p.60
| 07 . . . . . g.36443
AGTGATGAT | CCCGACACTATTAGAAGCAATCTTCCCCATATTAAAGAAACTACAAGTGAT c.240
S D D | P D T I R S N L P H I K E T T S D p.80
. . . . . . g.36503
GATGTAAGTGCTGCTAACACTAACAACCTGAAGAAGAGCACGAGAGTCACTAAAAACAAA c.300
D V S A A N T N N L K K S T R V T K N K p.100
. . . . . . g.36563
TTGAGGAACACACAGTTAGCAACTGAAAATCCTAATGGTGATGCTAGTGTAGAGGAAGAC c.360
L R N T Q L A T E N P N G D A S V E E D p.120
. . . . . . g.36623
AAACAAGGAAAGCCAAATAAAAAGGTGATAAAGACGGTGCCCCAGTTGACTACACAAGAC c.420
K Q G K P N K K V I K T V P Q L T T Q D p.140
. . . . . . g.36683
CTGAAACCGGAAACTCCTGAGAATAAGGTTGATTCTACACACCAGAAAACACATACAAAG c.480
L K P E T P E N K V D S T H Q K T H T K p.160
. . . . . . g.36743
CCACAGCCAGGCGTTGATCATCAGAAAAGTGAGAAGGCAAATGAGGGAAGAGAAGAGACT c.540
P Q P G V D H Q K S E K A N E G R E E T p.180
. . . . . . g.36803
GATTTAGAAGAGGATGAAGAATTGATGCAAGCATATCAGTGCCATGTAACTGAAGAAATG c.600
D L E E D E E L M Q A Y Q C H V T E E M p.200
. . . . . . g.36863
GCAAAGGAGATTAAGAGGAAAATAAGAAAGAAACTGAAAGAACAGTTGACTTACTTTCCC c.660
A K E I K R K I R K K L K E Q L T Y F P p.220
. . . . . . g.36923
TCAGATACTTTATTCCATGATGACAAACTAAGCAGTGAAAAAAGGAAAAAGAAAAAGGAA c.720
S D T L F H D D K L S S E K R K K K K E p.240
. . | 08 . . . g.39490
GTTCCAGTCTTCTCTAAAGCTGAAACAAG | TACATTGACCATCTCTGGTGACACAGTTGAA c.780
V P V F S K A E T S | T L T I S G D T V E p.260
. . . . . . g.39550
GGTGAACAAAAGAAAGAATCTTCAGTTAGATCAGTTTCTTCAGATTCTCATCAAGATGAT c.840
G E Q K K E S S V R S V S S D S H Q D D p.280
. . . . . . g.39610
GAAATAAGCTCAATGGAACAAAGCACAGAAGACAGCATGCAAGATGATACAAAACCTAAA c.900
E I S S M E Q S T E D S M Q D D T K P K p.300
. . . | 09 . . . g.45081
CCAAAAAAAACAAAAAAGAAGACTAAAGCAG | TTGCAGATAATAATGAAGATGTTGATGGT c.960
P K K T K K K T K A V | A D N N E D V D G p.320
. . . . . . g.45141
GATGGTGTTCATGAAATAACAAGCCGAGATAGCCCGGTTTATCCCAAATGTTTGCTTGAT c.1020
D G V H E I T S R D S P V Y P K C L L D p.340
. . . . . . g.45201
GATGACCTTGTCTTGGGAGTTTACATTCACCGAACTGATAGACTTAAGTCAGATTTTATG c.1080
D D L V L G V Y I H R T D R L K S D F M p.360
. . . . . . g.45261
ATTTCTCACCCAATGGTAAAAATTCATGTGGTTGATGAGCATACTGGTCAATATGTCAAG c.1140
I S H P M V K I H V V D E H T G Q Y V K p.380
. | 10 . . . . . g.46888
AAAGATGATAG | TGGACGGCCTGTTTCATCTTACTATGAAAAAGAGAATGTGGATTATATT c.1200
K D D S | G R P V S S Y Y E K E N V D Y I p.400
. . . . . . g.46948
CTTCCTATTATGACCCAGCCATATGATTTTAAACAGTTAAAATCAAGACTTCCAGAGTGG c.1260
L P I M T Q P Y D F K Q L K S R L P E W p.420
. . . . . . g.47008
GAAGAACAAATTGTATTTAATGAAAATTTTCCCTATTTGCTTCGAGGCTCTGATGAGAGT c.1320
E E Q I V F N E N F P Y L L R G S D E S p.440
. . | 11 . . . . g.49365
CCTAAAGTCATCCTGTTCTTTGAG | ATTCTTGATTTCTTAAGCGTGGATGAAATTAAGAAT c.1380
P K V I L F F E | I L D F L S V D E I K N p.460
. . . . . . g.49425
AATTCTGAGGTTCAAAACCAAGAATGTGGCTTTCGGAAAATTGCCTGGGCATTTCTTAAG c.1440
N S E V Q N Q E C G F R K I A W A F L K p.480
| 12 . . . . . . g.54350
| CTTCTGGGAGCCAATGGAAATGCAAACATCAACTCAAAACTTCGCTTGCAGCTATATTAC c.1500
| L L G A N G N A N I N S K L R L Q L Y Y p.500
. . . . . . g.54410
CCACCTACTAAGCCTCGATCCCCATTAAGTGTTGTTGAGGCATTTGAATGGTGGTCAAAA c.1560
P P T K P R S P L S V V E A F E W W S K p.520
. . . . . . g.54470
TGTCCAAGAAATCATTACCCATCAACACTGTACGTAACTGTAAGAGGACTGAAAGTTCCA c.1620
C P R N H Y P S T L Y V T V R G L K V P p.540
| 13 . . . . . . g.55659
GACTGT | ATAAAGCCATCTTACCGCTCTATGATGGCTCTTCAGGAGGAAAAAGGTAAACCA c.1680
D C | I K P S Y R S M M A L Q E E K G K P p.560
. . . . . . g.55719
GTGCATTGTGAACGTCACCATGAGTCAAGCTCAGTAGACACAGAACCTGGATTAGAAGAG c.1740
V H C E R H H E S S S V D T E P G L E E p.580
. . . | 14 . . g.60072
TCAAAGGAAGTAATAAAGTGGAAACGACTCCCTGGGCAG | GCTTGCCGTATCCCAAACAAA c.1800
S K E V I K W K R L P G Q | A C R I P N K p.600
. . . . . . g.60132
CACCTCTTCTCACTAAATGCAGGAGAACGAGGATGTTTTTGTCTTGATTTCTCCCACAAT c.1860
H L F S L N A G E R G C F C L D F S H N p.620
. . . . . | 15 . g.64275
GGAAGAATATTAGCAGCAGCTTGTGCCAGCCGGGATGGATATCCAATTATTT | TATATGAA c.1920
G R I L A A A C A S R D G Y P I I L | Y E p.640
. . . . . . g.64335
ATTCCTTCTGGACGTTTCATGAGAGAATTGTGTGGCCACCTCAATATCATTTATGATCTT c.1980
I P S G R F M R E L C G H L N I I Y D L p.660
. . . . . | 16 . g.69513
TCCTGGTCAAAAGATGATCACTACATCCTTACTTCATCATCTGATGGCACTGCCAG | GATA c.2040
S W S K D D H Y I L T S S S D G T A R | I p.680
. . . . . . g.69573
TGGAAAAATGAAATAAACAATACAAATACTTTCAGAGTTTTACCTCATCCTTCTTTTGTT c.2100
W K N E I N N T N T F R V L P H P S F V p.700
. . . . . . g.69633
TACACGGCTAAATTCCATCCAGCTGTAAGAGAGCTAGTAGTTACAGGATGCTATGATTCC c.2160
Y T A K F H P A V R E L V V T G C Y D S p.720
. . . . . . g.69693
ATGATACGGATATGGAAAGTTGAGATGAGAGAAGATTCTGCCATATTGGTCCGACAGTTT c.2220
M I R I W K V E M R E D S A I L V R Q F p.740
. . . . | 17 . . g.71465
GATGTTCACAAAAGTTTTATCAACTCACTTTGTTTTGATACTGAAG | GTCATCATATGTAT c.2280
D V H K S F I N S L C F D T E G | H H M Y p.760
. . . . . . g.71525
TCAGGAGATTGTACAGGGGTGATTGTTGTTTGGAATACCTATGTCAAGATTAATGATTTG c.2340
S G D C T G V I V V W N T Y V K I N D L p.780
. . . | 18 . . . g.72792
GAACATTCAGTGCACCACTGGACTATAAATAAG | GAAATTAAAGAAACTGAGTTTAAGGGA c.2400
E H S V H H W T I N K | E I K E T E F K G p.800
. . . . . . g.72852
ATTCCAATAAGTTATTTGGAGATTCATCCCAATGGAAAACGTTTGTTAATCCATACCAAA c.2460
I P I S Y L E I H P N G K R L L I H T K p.820
. . . | 19 . . . g.74034
GACAGTACTTTGAGAATTATGGATCTCCGGAT | ATTAGTAGCAAGGAAGTTTGTAGGAGCA c.2520
D S T L R I M D L R I | L V A R K F V G A p.840
. . . . . . g.74094
GCAAATTATCGGGAGAAGATTCATAGTACTTTGACTCCATGTGGGACTTTTCTGTTTGCT c.2580
A N Y R E K I H S T L T P C G T F L F A p.860
. . . . | 20 . . g.75475
GGAAGTGAGGATGGTATAGTGTATGTTTGGAACCCAGAAACAG | GAGAACAAGTAGCCATG c.2640
G S E D G I V Y V W N P E T G | E Q V A M p.880
. . . . . . g.75535
TATTCTGACTTGCCATTCAAGTCACCCATTCGAGACATTTCTTATCATCCATTTGAAAAT c.2700
Y S D L P F K S P I R D I S Y H P F E N p.900
. . . . . . g.75595
ATGGTTGCATTCTGTGCATTTGGGCAAAATGAGCCAATTCTTCTGTATATTTACGATTTC c.2760
M V A F C A F G Q N E P I L L Y I Y D F p.920
| 21 . . . . . . g.91277
CATG | TTGCCCAGCAGGAGGCTGAAATGTTCAAACGCTACAATGGAACATTTCCATTACCT c.2820
H V | A Q Q E A E M F K R Y N G T F P L P p.940
. . . . . . g.91337
GGAATACACCAAAGTCAAGATGCCCTATGTACCTGTCCAAAACTACCCCATCAAGGCTCT c.2880
G I H Q S Q D A L C T C P K L P H Q G S p.960
. . . . . . g.91397
TTTCAGATTGATGAATTTGTCCACACTGAAAGTTCTTCAACGAAGATGCAGCTAGTAAAA c.2940
F Q I D E F V H T E S S S T K M Q L V K p.980
. . | 22 . . | 23 . g.107881
CAGAGGCTTGAAACTGTCACA | GAGGTGATACGTTCCTGTGCTGCAAAA | GTCAACAAAAAT c.3000
Q R L E T V T | E V I R S C A A K | V N K N p.1000
. . . . . . g.107941
CTCTCATTTACTTCACCACCAGCAGTTTCCTCACAACAGTCTAAGTTAAAGCAGTCAAAC c.3060
L S F T S P P A V S S Q Q S K L K Q S N p.1020
. . . . | 24 . g.144589
ATGCTGACCGCTCAAGAGATTCTACATCAGTTTGGTTTCACTCAGACCG | GGATTATCAGC c.3120
M L T A Q E I L H Q F G F T Q T G | I I S p.1040
. . . . | 25 . . g.179456
ATAGAAAGAAAGCCTTGTAACCATCAGGTAGATACAGCACCAACG | GTAGTGGCTCTTTAT c.3180
I E R K P C N H Q V D T A P T | V V A L Y p.1060
. . . . . . g.179516
GACTACACAGCGAATCGATCAGATGAACTAACCATCCATCGCGGAGACATTATCCGAGTG c.3240
D Y T A N R S D E L T I H R G D I I R V p.1080
. . . . . . g.179576
TTTTTCAAAGATAATGAAGACTGGTGGTATGGCAGCATAGGAAAGGGACAGGAAGGTTAT c.3300
F F K D N E D W W Y G S I G K G Q E G Y p.1100
. . | 26 . . . g.184181
TTTCCAGCTAATCATGTGGCTAGTGAAA | CACTGTATCAAGAACTGCCTCCTGAGATAAAG c.3360
F P A N H V A S E T | L Y Q E L P P E I K p.1120
. . . . . . g.184241
GAGCGATCCCCTCCTTTAAGCCCTGAGGAAAAAACTAAAATAGAAAAATCTCCAGCTCCT c.3420
E R S P P L S P E E K T K I E K S P A P p.1140
| 27 . . . . . . g.202261
CAAAAG | CAATCAATCAATAAGAACAAGTCCCAGGACTTCAGACTAGGCTCAGAATCTATG c.3480
Q K | Q S I N K N K S Q D F R L G S E S M p.1160
| 28 . . . . . . g.212295
ACACA | TTCTGAAATGAGAAAAGAACAGAGCCATGAGGACCAAGGACACATAATGGATACA c.3540
T H | S E M R K E Q S H E D Q G H I M D T p.1180
. . . . | 29 g.217130
CGGATGAGGAAGAACAAGCAAGCAGGCAGAAAAGTCACTCTAATAGAG | TAA c.3591
R M R K N K Q A G R K V T L I E | X p.1196
. . . . . . g.217190
agaattgaagaaaagttaagagctgccgaaatgcacagaggtgaaaatgacaaaccaaat c.*60
. . . . . . g.217250
ggaatttctcttcagagttcagaattttcagatactaaggaggaagaaaggatccactac c.*120
. . . . . . g.217310
ttcttgttcttatgaatgactctagaaaaatcagaatcaagttgtgggtggaaaaatcaa c.*180
. . . . . . g.217370
cgtggcctttgagttcagttgttataaaccattgtgactattgttggtcaaagtattggt c.*240
. . . . . . g.217430
acttatattgttagtaattgcatcataattacattaccagtgttggaaaactaatgaaga c.*300
. . . . . . g.217490
aaacactgtaattgctactcagcaaatgtgaataaaaggtgtttgcgttattaggatgtc c.*360
. . . . . . g.217550
tgttaagtaatcatttaatattattatattggtaatggttgtatgtgtgatgctatgccc c.*420
. . . . . . g.217610
agaatatgaagtatctgtttttgaaattcactttatttaaaagataagcagctgactggg c.*480
. . . . . . g.217670
cacggtgcctcatgcctgtaatcctagcaccttgggaggctgaggcaggtggatcaccta c.*540
. . . . . . g.217730
aggtcaggagttcaacaacaccagcctgaccaacatggtgaaaccccatctctactaaaa c.*600
. . . . . . g.217790
atacaaaaatcagccgggtctcatggcaggcacctgtaatcccatctactgaggcaggag c.*660
. . . . . . g.217850
aattgcttgacccaggaggcagaggttgcagtgagccaagatcacgccattgcactccag c.*720
. . . . . . g.217910
cctgggggacagagcaagactctatctccaaaaaacaaaaaagataagcagctttagaat c.*780
. . . . . . g.217970
atggcgcattcaaaacagtctcagtaacaaagacattaaaagaaaacaatttactttcta c.*840
. . . . . . g.218030
attaaaattttgtgtttcttaagatcaaatcatataggtaacttcatagacctaaattaa c.*900
. . . . . . g.218090
aagtgatttttggctggactggcaacaatgttcccaatgtctttactttttaaaaaaggc c.*960
. . . . . . g.218150
ttttcatatttaagcacatacctattttgtagacttacattgtttaatatttattttaat c.*1020
. . . . . . g.218210
cttaatatttttacattattatattgcattatttattttttctaagttccagaataatag c.*1080
. . . . . . g.218270
tgtcattattatagactatatgttttgaagtttgatattataatgggatattcatttttt c.*1140
. . . . . . g.218330
gttcttttcttgactcctttctcaagtgtgtgataaggtctgctgataaaatatttaacc c.*1200
. . . . . . g.218390
ccaagaaagtgaaaactaatataaaattagaaagacctatccaaattagacagtcaattc c.*1260
. . . . . . g.218450
cattaaaataagaagtgagaaaaacaatgttgggcattgaggtgtaaattttgcccagat c.*1320
. . . . . . g.218510
gtatacccagtgtgaaatatcttctaataaaaatatatttggctcttatccctgcacatg c.*1380
. . . . . . g.218570
tagaggcataaaaattggtaaacatgtcccgctgtgtagaactttaaaaaaaaggcattt c.*1440
. . . . . . g.218630
ttgaaagtgttgagtggcactgataactggtgaagcctacagccatccgcccaaaagtct c.*1500
. . . . . . g.218690
gttctgatggcactgagttttcattgttctggatgtataagtctgtgtgtcaggtacagc c.*1560
. . . . . . g.218750
tgggcccagccagcttgagtcactcttgtacaagcttgtttttttctgtcttgtgaatgc c.*1620
. . . . . g.218803
acttgataatttaaaaataaaaatatctgtttctctgcagtttcagctaataa c.*1673
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center