(used for variant description)
(last modified May 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001267578.1 in the TOR1AIP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_042316.1, covering TOR1AIP1 transcript NM_001267578.1.
(upstream sequence)
. . . . g.5041
gtcgcactccttttccccgagacttggtactgggagatagg c.-421
. . . . . . g.5101
acgggagtctcctacacgcagtcaacacttgccacgagcggctagacttaggacaggcaa c.-361
. . . . . . g.5161
gttgccctgccatccttctatcgcccccacccctcctttacttaagggcgatggcagaga c.-301
. . . . . . g.5221
cgtcctcctcccccttctcctcctctttggtgcctccagccaggaggcgggagcgatcca c.-241
. . . . . . g.5281
cagcagctgacccagctcaggcactgcctctctcacagccctcaagacacaccatgggcc c.-181
. . . . . . g.5341
cagaggcaggtttgctacacagcagcgacgacgcaggcggcggccccagcgactcgcaac c.-121
. . . . . . g.5401
tgcctccctgaccacagcggccaccgcccaacacccccgagaagccatcgccaccaccgg c.-61
. . . . . . g.5461
caggagaacctagggtccataaagccatcttcgcgatcgactaaagctacgtcaacaact c.-1
. . . . . . g.5521
ATGGCGGGCGACGGGCGGCGGGCAGAGGCGGTGCGGGAAGGATGGGGTGTGTACGTCACC c.60
M A G D G R R A E A V R E G W G V Y V T p.20
. . . . . . g.5581
CCCAGGGCCCCCATCCGAGAGGGAAGGGGCCGGCTCGCCCCTCAAAATGGCGGCAGCAGC c.120
P R A P I R E G R G R L A P Q N G G S S p.40
. . . . . . g.5641
GATGCGCCTGCGTACAGAACTCCTCCGTCGCGCCAGGGCCGGCGGGAAGTGAGGTTCTCG c.180
D A P A Y R T P P S R Q G R R E V R F S p.60
. . . . . . g.5701
GACGAGCCGCCAGAAGTGTACGGCGACTTCGAGCCCCTGGTGGCCAAAGAAAGGTCCCCG c.240
D E P P E V Y G D F E P L V A K E R S P p.80
. . . . . . g.5761
GTGGGAAAACGAACCCGGCTAGAAGAGTTCCGGTCCGATTCTGCGAAAGAGGAAGTGAGA c.300
V G K R T R L E E F R S D S A K E E V R p.100
. . . . . . g.5821
GAAAGCGCGTACTACCTTCGGTCTAGGCAGCGGAGGCAGCCGCGACCCCAGGAAACCGAG c.360
E S A Y Y L R S R Q R R Q P R P Q E T E p.120
. . . . . . g.5881
GAAATGAAGACGCGAAGGACTACCCGCCTTCAGCAGCAGCACTCAGAGCAGCCTCCGCTA c.420
E M K T R R T T R L Q Q Q H S E Q P P L p.140
. . . . . | 02 . g.7655
CAGCCGTCTCCTGTTATGACCAGGAGAGGGCTGCGGGACTCTCATTCCTCTGAAG | AGGAT c.480
Q P S P V M T R R G L R D S H S S E E | D p.160
. . . . . . g.7715
GAAGCATCTTCCCAAACTGATTTAAGCCAAACGATCTCAAAGAAAACTGTCAGGAGCATA c.540
E A S S Q T D L S Q T I S K K T V R S I p.180
. | 03 . . . . . g.12315
CAAGAGGCTCCAG | CAGTGAGTGAAGATCTTGTAATCAGGTTACGTCGACCCCCTCTAAGA c.600
Q E A P A | V S E D L V I R L R R P P L R p.200
. | 04 . . . . | 05 . g.24265
TACCCAAGATATG | AAGCCACCAGTGTCCAACAGAAGGTCAATTTCTCTGAAGAAG | GAGAA c.660
Y P R Y E | A T S V Q Q K V N F S E E G | E p.220
. . . . . . g.24325
ACTGAAGAAGATGATCAAGACAGCTCTCACAGCAGTGTCACTACTGTTAAGGCCAGATCC c.720
T E E D D Q D S S H S S V T T V K A R S p.240
. . | 06 . . . . g.26962
AGGGATTCTGATGAATCTGGAG | ATAAAACCACCAGATCATCTAGTCAATATATAGAATCA c.780
R D S D E S G D | K T T R S S S Q Y I E S p.260
. | 07 . . . . g.30822
TTTTGGCAGTCATCACAAA | GTCAAAACTTCACAGCTCATGATAAGCAACCTTCAGTGCTA c.840
F W Q S S Q S | Q N F T A H D K Q P S V L p.280
| 08 . . . . . . g.31622
A | GCTCAGGATATCAAAAAACTCCCCAGGAATGGGCCCCACAAACTGCAAGAATAAGGACC c.900
S | S G Y Q K T P Q E W A P Q T A R I R T p.300
. | 09 . . . . . g.37006
AGGATGCAAA | ATGACAGCATTCTGAAATCAGAGCTTGGAAACCAGTCACCATCAACCTCC c.960
R M Q N | D S I L K S E L G N Q S P S T S p.320
| 10. . . . . . g.40463
AGCCGAC | AAGTGACTGGACAACCCCAAAATGCATCTTTTGTCAAGAGGAACCGGTGGTGG c.1020
S R Q | V T G Q P Q N A S F V K R N R W W p.340
. . . . . . g.40523
CTACTTCCTCTGATAGCTGCTCTTGCCTCTGGGAGTTTTTGGTTCTTTAGTACTCCTGAG c.1080
L L P L I A A L A S G S F W F F S T P E p.360
. . . . . . g.40583
GTAGAAACCACTGCTGTTCAAGAGTTCCAGAACCAGATGAATCAACTTAAGAATAAGTAC c.1140
V E T T A V Q E F Q N Q M N Q L K N K Y p.380
. . . . . . g.40643
CAAGGTCAAGATGAGAAGCTGTGGAAAAGGAGCCAAACATTCCTGGAAAAACATCTTAAT c.1200
Q G Q D E K L W K R S Q T F L E K H L N p.400
. . . . . . g.40703
AGCTCCCATCCTCGGTCTCAGCCTGCTATCTTACTGCTCACTGCTGCCCGAGATGCTGAA c.1260
S S H P R S Q P A I L L L T A A R D A E p.420
. . . . . . g.40763
GAAGCACTTAGGTGTCTGAGTGAACAAATTGCTGATGCCTATTCTTCTTTTCGTAGTGTC c.1320
E A L R C L S E Q I A D A Y S S F R S V p.440
. . . . . . g.40823
CGTGCCATCCGGATTGATGGGACAGATAAAGCTACTCAAGACAGTGATACTGTCAAACTA c.1380
R A I R I D G T D K A T Q D S D T V K L p.460
. . . . . . g.40883
GAGGTAGACCAAGAACTGAGCAATGGATTTAAGAATGGCCAGAATGCAGCTGTGGTACAC c.1440
E V D Q E L S N G F K N G Q N A A V V H p.480
. . . . . . g.40943
CGCTTTGAGTCATTTCCCGCAGGCTCTACTTTGATCTTCTACAAATATTGTGACCATGAA c.1500
R F E S F P A G S T L I F Y K Y C D H E p.500
. . . . . . g.41003
AACGCGGCCTTCAAAGATGTAGCCTTAGTCCTGACTGTCTTATTGGAGGAAGAGACACTT c.1560
N A A F K D V A L V L T V L L E E E T L p.520
. . . . . . g.41063
GGAACAAGTCTAGGCCTAAAGGAAGTTGAAGAAAAAGTAAGAGATTTTCTTAAAGTCAAG c.1620
G T S L G L K E V E E K V R D F L K V K p.540
. . . . . . g.41123
TTCACCAATTCTAACACACCCAACTCCTACAATCATATGGACCCAGACAAACTGAATGGC c.1680
F T N S N T P N S Y N H M D P D K L N G p.560
. . . . . . g.41183
CTCTGGAGCCGTATTTCTCACTTAGTTCTGCCTGTGCAACCTGAAAATGCCCTGAAAAGG c.1740
L W S R I S H L V L P V Q P E N A L K R p.580
. g.41198
GGCATCTGCTTATAA c.1755
G I C L X p.584
. . . . . . g.41258
gaagtgagagagaagaaaaatcatgtcccaagttctgagaattgttcacactttctaacc c.*60
. . . . . . g.41318
agagacagaattcagagctctttttgaaagaactagtttctttttaaagaagttaagtgc c.*120
. . . . . . g.41378
ttacataaacatggaacatataaatcattcattcaacctaattatctgtgatatgagaga c.*180
. . . . . . g.41438
atcatttcagtttccattgagagctctgttaaaggtatcttaggagtgcagattatatgc c.*240
. . . . . . g.41498
agttccttagagaatctgttttgattctgggctgagttattacagttatggtatgaccag c.*300
. . . . . . g.41558
tgagagggatttgtgtcctttcttatgaaccttcctgattttttaacttagatttctcac c.*360
. . . . . . g.41618
taagtttcctgagttattagtaagattgctccctaaatgtaaccagggattttcccatta c.*420
. . . . . . g.41678
tgttcccttttataccatttaggtgtgagttccttagcttctgcctataggaacataagt c.*480
. . . . . . g.41738
aatgaaaggtcatctaggtgtgtgtttggaatttttttcttttgttttttggaaaatgga c.*540
. . . . . . g.41798
aagaacaaggcaaggaaggaaaattaatggggaagctgaagggaggaaatgttacagtaa c.*600
. . . . . . g.41858
tccactgagatgtagtttagtcaaacataggtatatgaactgttaatcttggtggattcc c.*660
. . . . . . g.41918
gttgggatttgttttttacatctcctttttccttccttgaagaaaaattcttggctgtcc c.*720
. . . . . . g.41978
caaggattcttcatgtatattgcaaaatttaatatatttgttcacttgagtcttaagagt c.*780
. . . . . . g.42038
aggtcaggccaaggcaggtggatcacctgaggtcagaagttcaagaccagcctggccaac c.*840
. . . . . . g.42098
atggtgaaaccccgtctctactaaaaatacaaaaattagctgggcgtggtggtgcatgcc c.*900
. . . . . . g.42158
tgaaatcccagctacttgggaggctgaggcaggagaattgcttgaacccgggaggcggag c.*960
. . . . . . g.42218
gttgcagtaagccgagaccatgcttattgccctccagtctgggcaacaaaaatgaaactc c.*1020
. . . . . . g.42278
cgtctcaaaaaaaaaaaagtaggtcaattcgtaacagtttattttggacacaccctgaag c.*1080
. . . . . . g.42338
cttttgttttgaattaagaaatgagtttcaggaattgacaaaccatttgttaaccagctg c.*1140
. . . . . . g.42398
tcctgggctattgaagaagatttcattttccgcgcatccacttgttgcagtccaagtcct c.*1200
. . . . . . g.42458
ctagtgcaacgccatagcaaatataaagatttactatgcacgtgatacattttatggagt c.*1260
. . . . . . g.42518
gcctcaagccaagatagtgaatttatatgaagggtgtgaaatgtatttctttactactat c.*1320
. . . . . . g.42578
agtagtttagttataactttgcatctataattgagctttctcatctgtcaaatgctatgg c.*1380
. . . . . . g.42638
ttttcttaaaatgttacaattctagatctatccaccttgtttttttattgtctacaaacc c.*1440
. . . . . . g.42698
attaaatgtaaatattgtttttagagtcagtcattggctttgtcatttaccctttgagag c.*1500
. . . . . . g.42758
ttccacaagtggtagtagagtggtttaacgtctttcctctagtactaccagtattcataa c.*1560
. . . . . . g.42818
atgtataccccttactgtaatttgttcctcttagaagtcagatcatctgatttatagagg c.*1620
. . . . . . g.42878
attatgaaaaccagagtttttgaaaaggcttattttatacatacgtattatatagagaaa c.*1680
. . . . . . g.42938
caaatgtttttattaaatgtttcattgacccaagtaatttaaaagtaatatgttacctat c.*1740
. . . . . . g.42998
gtctttcaggaaaaataattatagcagctgatctgtaaatgactttaaaagctattttag c.*1800
. . . g.43036
taatttaaataaatttactttcttggtttatactctct c.*1838
(downstream sequence)
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