(used for variant description)
(last modified January 23, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001252385.1 in the TNIP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_030590.1, covering TNIP1 transcript NM_001252385.1.
(upstream sequence)
g.11577
a c.-241
. . . . . . g.11637
gtctccggggactttcccaggggtggggcggcccggccaggcccccggcacttcctcgtc c.-181
. . . . . . g.11697
ctcggcccgggtgccctgcccccgtccaggagccctaggagtgctacggggggccggagc c.-121
. . . . . . g.11757
cttgcccgggccgctgccccgtccctggattcggggctggacgcagcaagcggggcgctg c.-61
. . . | 02 . . . g.27565
tgtccccaagctccccgtcctcgg | ccaggcgggcaccacggcaggggctgagctaccctc c.-1
. . . . . . g.27625
ATGGAAGGGAGAGGACCGTACCGGATCTACGACCCTGGGGGCAGCGTGCCCTCAGGAGAG c.60
M E G R G P Y R I Y D P G G S V P S G E p.20
. . . . . . g.27685
GCATCCGCAGCTTTTGAGCGCCTAGTGAAGGAGAATTCCCGGCTGAAGGAAAAAATGCAA c.120
A S A A F E R L V K E N S R L K E K M Q p.40
. | 03 . . . . . g.28957
GGGATAAAGATGTTAG | GGGAGCTTTTGGAAGAGTCCCAGATGGAAGCGACCAGGCTCCGG c.180
G I K M L G | E L L E E S Q M E A T R L R p.60
. . . . . . g.29017
CAGAAGGCAGAGGAGCTAGTGAAGGACAACGAGCTGCTCCCACCACCTTCTCCCTCCTTG c.240
Q K A E E L V K D N E L L P P P S P S L p.80
. . . | 04 . . . g.30477
GGCTCCTTCGACCCCCTGGCTGAGCTCACAG | GAAAGGACTCAAATGTCACAGCATCTCCC c.300
G S F D P L A E L T G | K D S N V T A S P p.100
. . . . . | 05. g.32268
ACAGCCCCTGCATGCCCCAGTGACAAGCCAGCACCAGTCCAGAAGCCTCCATCCAGT | GGC c.360
T A P A C P S D K P A P V Q K P P S S | G p.120
. . . . . . g.32328
ACCTCCTCTGAATTTGAAGTGGTCACTCCTGAGGAGCAGAATTCACCAGAGAGCAGCAGC c.420
T S S E F E V V T P E E Q N S P E S S S p.140
. | 06 . . . . . g.35748
CATGCCAATGCGATG | GCGCTGGGCCCCCTGCCCCGTGAGGACGGCAACCTGATGCTGCAC c.480
H A N A M | A L G P L P R E D G N L M L H p.160
. . . . . . g.35808
CTGCAGCGCCTGGAGACCACGCTGAGTGTGTGTGCCGAGGAGCCGGACCACGGCCAGCTC c.540
L Q R L E T T L S V C A E E P D H G Q L p.180
. . . . . . g.35868
TTCACCCACCTGGGCCGCATGGCCCTGGAGTTCAACCGACTGGCATCCAAGGTGCACAAG c.600
F T H L G R M A L E F N R L A S K V H K p.200
. . | 07. . . . g.40434
AATGAGCAGCGCACCTCCATTCTGCAG | ACCCTGTGTGAGCAGCTTCGGAAGGAGAACGAG c.660
N E Q R T S I L Q | T L C E Q L R K E N E p.220
. . . . . . g.40494
GCTCTGAAGGCCAAGTTGGATAAGGGCCTGGAACAGCGGGATCAGGCTGCCGAGAGGCTG c.720
A L K A K L D K G L E Q R D Q A A E R L p.240
| 08 . . . . . . g.42771
CG | GGAGGAAAATTTGGAGCTCAAGAAGTTGTTGATGAGCAATGGCAACAAAGAGGGTGCG c.780
R | E E N L E L K K L L M S N G N K E G A p.260
. . . . . . g.42831
TCTGGGCGGCCAGGCTCACCGAAGATGGAAGGGACAGGCAAGAAGGCAGTGGCTGGACAG c.840
S G R P G S P K M E G T G K K A V A G Q p.280
| 09 . . . . . . g.46764
CAGCAG | GCTAGTGTGACGGCAGGTAAGGTCCCAGAGGTGGTGGCCTTGGGCGCAGCCGAG c.900
Q Q | A S V T A G K V P E V V A L G A A E p.300
. . . | 10 . . . g.49723
AAGAAGGTGAAGATGCTGGAGCAGCAGCGCAGTGAG | CTGCTGGAAGTGAACAAGCAGTGG c.960
K K V K M L E Q Q R S E | L L E V N K Q W p.320
. . . . | 11 . . g.50007
GACCAGCATTTCCGGTCCATGAAGCAGCAGTATGAGCAGAAG | ATCACTGAGCTGCGTCAG c.1020
D Q H F R S M K Q Q Y E Q K | I T E L R Q p.340
. . . . . . g.50067
AAGCTGGCTGATTTGCAGAAGCAGGTGACTGACCTGGAGGCCGAGCGGGAGCAGAAGCAG c.1080
K L A D L Q K Q V T D L E A E R E Q K Q p.360
. . . . . | 12 . g.53441
CGTGACTTTGACCGCAAGCTCCTCCTGGCCAAGTCCAAGATTGAAATGGAGGAG | ACCGAC c.1140
R D F D R K L L L A K S K I E M E E | T D p.380
. . . . . . g.53501
AAGGAGCAGCTGACAGCAGAGGCCAAGGAGCTGCGCCAAAAGGTCAAGTACCTGCAGGAT c.1200
K E Q L T A E A K E L R Q K V K Y L Q D p.400
. . . . . . g.53561
CAGCTGAGCCCACTCACCCGACAGCGTGAGTACCAGGAAAAGGAGATCCAGCGGCTCAAC c.1260
Q L S P L T R Q R E Y Q E K E I Q R L N p.420
| 13 . . . . . . g.55796
AAG | GCCCTGGAGGAAGCACTGAGCATCCAAACCCCGCCATCATCTCCACCAACAGCATTT c.1320
K | A L E E A L S I Q T P P S S P P T A F p.440
. . . . . . g.55856
GGGAGCCCAGAAGGAGCAGGGGCCCTCCTAAGGAAACAGGAGCTGGTCACGCAGAATGAG c.1380
G S P E G A G A L L R K Q E L V T Q N E p.460
. | 14 . . . . . g.56998
TTGCTGAAACAGCAG | GTGAAGATCTTCGAGGAGGACTTCCAGAGGGAGCGCAGTGATCGT c.1440
L L K Q Q | V K I F E E D F Q R E R S D R p.480
. . . . . . g.57058
GAGCGCATGAATGAGGAGAAGGAAGAGCTGAAGAAGCAAGTGGAGAAGCTGCAGGCCCAG c.1500
E R M N E E K E E L K K Q V E K L Q A Q p.500
. . | 15 . . . . g.57632
GTCACCCTGTCAAATGCCCAG | CTAAAAGCATTCAAAGATGAGGAGAAGGCAAGAGAAGCC c.1560
V T L S N A Q | L K A F K D E E K A R E A p.520
. . | 16. . . . g.58894
CTCAGACAGCAGAAGAGGAAAGCAAAG | GCCTCAGGAGAGCGTTACCATGTGGAGCCCCAC c.1620
L R Q Q K R K A K | A S G E R Y H V E P H p.540
. . . . . . g.58954
CCAGAACATCTCTGCGGGGCCTACCCCTACGCCTACCCGCCCATGCCAGCCATGGTGCCA c.1680
P E H L C G A Y P Y A Y P P M P A M V P p.560
. . . . . . g.59014
CACCATGGCTTCGAGGACTGGTCCCAGATCCGCTACCCCCCTCCCCCCATGGCCATGGAG c.1740
H H G F E D W S Q I R Y P P P P M A M E p.580
. . . | 17 . . g.60281
CACCCGCCCCCACTCCCCAACTCGCGCCTCTTCCATCTG | CACCAGTTTTGTCGCAGCCGG c.1800
H P P P L P N S R L F H L | H Q F C R S R p.600
. . . . . . g.60341
AATACACCTGGCGTCTACCCTGTGGAGGGGTTCGAAATCCAAATCAGAGCTCCCAAGTGA c.1860
N T P G V Y P V E G F E I Q I R A P K X p.619
. . . | 18 . . . g.61940
tggaccctcccacagccaggcctacagaaccag | agtctccaaaaaatgaccgtgaggggc c.*60
. . . . . . g.62000
ctcagtgagaccagattgtgtcatttggctccaccttcatcttgcagagccagctgatct c.*120
. . . . . . g.62060
cagattgccaagaaactagaagccacttgcacggtgtggccagagcctcagctggatgag c.*180
. . . . . . g.62120
aggctgagatgggtggccagcttgtacaccagtccctgaactgagctgtttacaggactg c.*240
. . . . . . g.62180
gggaggctccacccagaaggctttcatttgtactctgctgggagtgactgggaaaaactc c.*300
. . . . . . g.62240
cttccctgctgctgagtggagagaggcctcatccggctttgacccaccatccgttgcaga c.*360
. . . . . . g.62300
agcctccaggagcagcaatcctaagagtgggaggcagccaagacccccttccttcaaaac c.*420
. . . . . . g.62360
ctcccggaagtggtttcaggccctctagttgccatgaccaatttgtgtgtgtgtttaatt c.*480
. . . . . . g.62420
tttgcttcaagctctgtagcaggacctgccccacgcacacccctacccctctgtgaggag c.*540
. . . . . . g.62480
ctgtgggaagtgtgggtttgtctccagaacagaagagaatgatggatattctggctctgg c.*600
. . . . . . g.62540
ggccctctccaccaccactcacagtagccttgctgaagccatcacagatgggagaaggcc c.*660
. . . . . . g.62600
atgccagccacgtccgccgaggggcgccagcctgaagctgccaggccctgaggttcagac c.*720
. . . . . . g.62660
cctggaccccatagctggaggcctgtggtgccagaagcccagattagggtggctgtccat c.*780
. . . . . g.62718
ccctggatagctatttgcacgaatcatggacataaatccaagttgaagaagatcaaca c.*838
(downstream sequence)
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