(used for variant description)
(last modified November 2, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_207037.1 in the TCF12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033851.1, covering TCF12 transcript NM_207037.1.
(upstream sequence)
. . . . . g.5054
tccggaggcgagccgagcgcggtggtgaggccgcctcagcgaaaaaaatgtccg c.-241
. . . . . . g.5114
cctgaagagacccacaagttctattcggggggaccgacagcccgccccgggaggaagggg c.-181
. . . . . . g.5174
cggccaggcccgaaagccgcctccccctcccagacccgagagctcgtgcggggcaaagtg c.-121
. . . . . . g.5234
aaccgagccgctgggcggtgcaaggggaagcccaagcccgttctcccggccaaagtgaac c.-61
. . . . | 02. . g.6279
tttaatcggggtggttggatgcggagacggggcggcag | gacctgctagaagtggccgaag c.-1
. . . . . . g.6339
ATGAATCCCCAGCAACAACGCATGGCCGCTATAGGGACCGACAAGGAGCTGAGCGACCTA c.60
M N P Q Q Q R M A A I G T D K E L S D L p.20
. | 03 . . . . . g.7436
CTGGACTTCAGTGCG | ATGTTTTCCCCACCTGTTAATAGTGGGAAAACTAGACCAACTACA c.120
L D F S A | M F S P P V N S G K T R P T T p.40
. . | 04 . . . g.150147
CTGGGAAGCAGTCAATTCAGTGGATCAG | GTATTGATGAAAGAGGAGGTACAACATCTTGG c.180
L G S S Q F S G S G | I D E R G G T T S W p.60
. . . . | 05 . . g.178172
GGAACAAGTGGTCAACCAAGTCCTTCCTATGATTCATCTAGA | GGTTTTACAGACAGCCCT c.240
G T S G Q P S P S Y D S S R | G F T D S P p.80
. . . . . . g.178232
CATTACAGTGATCACTTGAATGACAGTCGATTAGGAGCCCATGAAGGCTTGTCCCCAACA c.300
H Y S D H L N D S R L G A H E G L S P T p.100
. . | 06 . . . . g.252802
CCTTTCATGAACTCAAATCTGATGG | GAAAAACATCAGAGAGAGGCTCATTTTCCCTGTAC c.360
P F M N S N L M G | K T S E R G S F S L Y p.120
. . . | 07 . . . g.278553
AGCAGAGATACTGGATTACCAGGCTGTCAA | TCTAGTCTCCTGAGACAAGATCTGGGGCTT c.420
S R D T G L P G C Q | S S L L R Q D L G L p.140
. . . . . . g.278613
GGGAGCCCAGCACAGCTATCTTCTTCAGGAAAACCTGGGACAGCATACTATTCATTCTCT c.480
G S P A Q L S S S G K P G T A Y Y S F S p.160
. . . . | 08 . . g.284152
GCTACAAGTTCCAGGAGGAGACCACTCCATGACTCTGCAGCGCTTG | ATCCCTTGCAAGCA c.540
A T S S R R R P L H D S A A L D | P L Q A p.180
. . . | 09 . . g.317538
AAAAAAGTCAGAAAGGTGCCTCCTGGTTTGCCTTCTTCT | GTATATGCACCATCCCCAAAT c.600
K K V R K V P P G L P S S | V Y A P S P N p.200
. . . . . . g.317598
TCAGATGATTTCAACCGTGAATCTCCTAGTTATCCATCTCCTAAGCCACCAACCAGTATG c.660
S D D F N R E S P S Y P S P K P P T S M p.220
. . | 10 . . . . g.318691
TTCGCTAGCACTTTCTTTATGCAAG | ATGGGACCCACAATTCTTCTGACCTTTGGAGTTCA c.720
F A S T F F M Q D | G T H N S S D L W S S p.240
. . . . . . g.318751
TCAAATGGGATGAGCCAGCCTGGTTTTGGTGGAATTCTGGGGACCTCCACTTCCCACATG c.780
S N G M S Q P G F G G I L G T S T S H M p.260
. . . . | 11 . . g.319092
TCTCAATCCAGTAGTTATGGCAACCTTCATTCACATGACCGCTTG | AGTTATCCTCCACAC c.840
S Q S S S Y G N L H S H D R L | S Y P P H p.280
. . . . . . g.319152
TCAGTTTCACCAACAGACATAAACACGAGTCTTCCACCAATGTCCAGCTTTCATCGCGGC c.900
S V S P T D I N T S L P P M S S F H R G p.300
. . . . . . g.319212
AGTACCAGCAGTTCACCTTACGTTGCTGCCTCACACACTCCTCCCATCAATGGATCAGAC c.960
S T S S S P Y V A A S H T P P I N G S D p.320
. | 12 . . . . . g.320458
AGCATTCTAG | GAACCAGAGGGAATGCTGCTGGAAGCTCACAGACAGGTGATGCACTTGGA c.1020
S I L G | T R G N A A G S S Q T G D A L G p.340
. | 13 . . . . . g.329882
AAGGCTTTGGCATCT | ATTTATTCTCCTGACCATACCAGCAGTAGTTTTCCGTCAAATCCA c.1080
K A L A S | I Y S P D H T S S S F P S N P p.360
. . . | 14 . . . g.337741
TCAACACCAGTTGGATCACCTTCACCTCTCACAG | GTACCAGTCAGTGGCCAAGACCTGGA c.1140
S T P V G S P S P L T G | T S Q W P R P G p.380
. . . . | 15 . g.338798
GGGCAAGCACCTTCATCCCCAAGCTATGAAAACTCACTCCACTCCCTG | AAAAATCGAGTT c.1200
G Q A P S S P S Y E N S L H S L | K N R V p.400
. . . . . . g.338858
GAGCAGCAACTTCACGAGCATTTGCAAGATGCAATGTCCTTCTTAAAGGATGTCTGTGAG c.1260
E Q Q L H E H L Q D A M S F L K D V C E p.420
| 16 . . . . . . g.339687
| CAGTCTCGAATGGAGGATCGTTTAGACAGACTGGATGATGCAATCCATGTGCTGCGGAAC c.1320
| Q S R M E D R L D R L D D A I H V L R N p.440
. . . . . . g.339747
CATGCTGTGGGACCTTCCACCAGTTTGCCTGCTGGTCACAGTGATATACATAGTTTATTG c.1380
H A V G P S T S L P A G H S D I H S L L p.460
. . . . . . g.339807
GGACCATCCCATAATGCACCAATTGGAAGCCTCAATTCAAACTATGGAGGATCAAGCCTT c.1440
G P S H N A P I G S L N S N Y G G S S L p.480
. . | 17. . . . g.348492
GTTGCAAGCAGTCGATCAGCTTCAATG | GTTGGAACTCATCGGGAAGACTCTGTCAGTCTC c.1500
V A S S R S A S M | V G T H R E D S V S L p.500
. . . . . . g.348552
AATGGCAATCATTCAGTCCTGTCTAGTACAGTCACTACTTCAAGCACAGACCTGAACCAT c.1560
N G N H S V L S S T V T T S S T D L N H p.520
. . | 18 . . . . g.349515
AAAACACAAGAAAATTATAGAG | GTGGCTTGCAAAGTCAGTCTGGAACTGTTGTTACAACA c.1620
K T Q E N Y R G | G L Q S Q S G T V V T T p.540
. . . . . . g.349575
GAAATCAAGACTGAAAACAAAGAAAAGGATGAAAACCTTCATGAACCTCCTTCATCAGAT c.1680
E I K T E N K E K D E N L H E P P S S D p.560
. . . . . . g.349635
GACATGAAGTCAGATGATGAATCCTCCCAAAAAGATATCAAGGTTTCATCTAGAGGCAGA c.1740
D M K S D D E S S Q K D I K V S S R G R p.580
| 19 . . . . . . g.359450
ACAAG | CAGTACTAATGAAGATGAGGATTTGAACCCTGAACAGAAGATAGAAAGGGAGAAG c.1800
T S | S T N E D E D L N P E Q K I E R E K p.600
. . . . . . g.359510
GAGAGGCGGATGGCTAACAATGCCAGAGAACGCTTACGCGTGCGGGATATTAATGAAGCA c.1860
E R R M A N N A R E R L R V R D I N E A p.620
. . . . . . g.359570
TTCAAAGAGCTTGGCCGAATGTGTCAGCTTCACTTGAAGAGTGAAAAACCCCAAACAAAA c.1920
F K E L G R M C Q L H L K S E K P Q T K p.640
. . . . . | 20 g.368812
CTCCTTATTCTTCATCAAGCCGTGGCAGTCATCCTTAGTCTAGAACAGCAAGTCAGAG | AG c.1980
L L I L H Q A V A V I L S L E Q Q V R E | p.660
. . . . . . g.368872
AGGAACCTTAACCCCAAAGCAGCCTGCCTTAAGAGAAGGGAAGAAGAAAAAGTTTCTGCC c.2040
R N L N P K A A C L K R R E E E K V S A p.680
. . . . . . g.368932
GTATCGGCAGAGCCGCCAACCACACTGCCAGGAACCCATCCTGGGCTTAGTGAAACTACC c.2100
V S A E P P T T L P G T H P G L S E T T p.700
. . g.368953
AACCCTATGGGTCATATGTAA | c.2122
N P M G H M X p.706
. | 21 . . . . . g.372571
acatcagccag | ttccagagttatcagtaggctagatagaaggtgacctctcctcataagg c.*60
. . . . . . g.372631
acttggacaactcagattatctgaagacacaaacctgacaggagggagaagaaaaaacaa c.*120
. . . . . . g.372691
aacacttgaaccaagaaactcaaatgtaatcctacgatcaaagcaactggtcaacacttc c.*180
. . . . . . g.372751
catcagaagtgaagataggaagctcatcagatagaacatcagcccatgagatgtttgcaa c.*240
. . . . . . g.372811
caaatcttttgttgcaagcagtgtgtcgcttctgcacaatcagagactgtctcgatctct c.*300
. . . . . . g.372871
ccactcaccgtggaagttgccttgtgcctaaactgaattgacaaatgcattgtaactaca c.*360
. . . . . . g.372931
aattttatttattgttatgaaactgtaaggtctacatataaagggaaaaagttaatgtgg c.*420
. . . . . . g.372991
aaagctgatctacactcagctgatgccagcatacattaaagcggttcacgtgcagagaac c.*480
. . . . . . g.373051
aaagcagtgacaaccattggcccttagcattcccggcatacctattagtgtcttaaaaag c.*540
. . . . . . g.373111
gaagggaaaagtcttttgttgccctctcctatcctcttgccatatgaatagcgttttcca c.*600
. . . . . . g.373171
tgaaataggaaaatattacttggtatagcatttctcttgctctcattttttgatttattt c.*660
. . . . . . g.373231
ttattttctctttgtgggtgttatatttgatctctaaatctgaacagtttatggtcacag c.*720
. . . . . . g.373291
tccagcctcctccgtgcagccctgtgtgctttgcacatttaccttacagtggtaagcaga c.*780
. . . . . . g.373351
gaccatctgtgaccatagcctagctagcattttaaaaggggaaattttgttctctaggtt c.*840
. . . . . . g.373411
ttcccccaaataaacattgctttatttctaataataaccaagacttttcaagcttctaga c.*900
. . . . . . g.373471
tctcataggaaagcttgtaatagcaaaattgtaaattacaagggaagaatctacttttta c.*960
. . . . . . g.373531
gaaatcgctttgttttccaagcagtaagtactacatacagtacttgtaaagtgttagctg c.*1020
. . . . . . g.373591
taagtaagcacaaaatacatttaaaatacaaagacgattttttcaggctgtgattatggt c.*1080
. . . . . . g.373651
gaacataacaaaacccagtagtcaccaaggcaggtagtgtgataaatgaacacaccactc c.*1140
. . . . . . g.373711
tgaggctaattacctaatggaatacaagagcaatggtcacccgtatttccttatcctagc c.*1200
. . . . . . g.373771
ctttatttctctgtcatttggatggctggtcaatggggaagaattgagtgggtgatttaa c.*1260
. . . . . . g.373831
tcaactgcaaaccatctgcccctgtcccaaaatgatgagccagattagcattaaaccagt c.*1320
. . . . . . g.373891
acttgtcagtccatcttaatactgttcattaaggcactctctgtctctaatccttaggag c.*1380
. . . . . . g.373951
ttgttttaaaagacataatcactttgaacttccatgaaacctgtcttccaccacaacaac c.*1440
. . . . . . g.374011
cctgggagagaaaaacatgctaaaggaggtatcttggcttaataattccttatagccaat c.*1500
. . . . . . g.374071
atcaacagtggcaatcagcacacagaggaaaggacccaaatcactatgtagcttaaagat c.*1560
. . . . . . g.374131
ttctgttaatttgaaagaacaaaaacaagacagaacttctggtactctaatcaggatgat c.*1620
. . . . . . g.374191
tcctaacaagtcagtcatttgtgaacttagtggactttttggttactttaatttgcatat c.*1680
. . . . . . g.374251
attctccagttacatcggactctatctgtggccttgttcttcatttcagtgttaatcagc c.*1740
. . . . . . g.374311
taaacagaagttgttgcttatgatgtgtgagtgaacatatgccactgcctggcctttttt c.*1800
. . . . . . g.374371
tcttcagagcttgttgtctttttcgctatattagactttgcagtatgcccagaagctttc c.*1860
. . . . . . g.374431
cttcataaaatagaaagaaaaaaacatttggcttatttttcactgtagctagtcttttat c.*1920
. . . . . . g.374491
acaataatcttgtaagaaaatttcttgaattctaaatattactctttctagatttttgaa c.*1980
. . . . . . g.374551
atcaaaaagttttcagtaaaaagtttcttactttattttattatattaggtagtaaaaaa c.*2040
. . . . . . g.374611
tgtagggttatttaccataacctgttcattaatatcagaaatttacaatagcattttaag c.*2100
. . . . . . g.374671
accatagtaggattctagcataccgtgtagtacctatggagtattgtaagagctaattgt c.*2160
. . . . . . g.374731
tggagatgaattgcttctcatcttgttctccagtttccattgttggtttattgcagattt c.*2220
. . . . . . g.374791
gtatcctgtgtcaaattcaaggtattattgataaaccttttcaaccagcagcaagaagtt c.*2280
. . . . . . g.374851
caaatttttttctgtcactgtaacagaaaacacaatatgtatataacatttatgtagcaa c.*2340
. . . g.374884
taaatgtgccatcttttttttaacacagtaaaa c.*2373
(downstream sequence)
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