(used for variant description)
(last modified December 10, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001904.3 in the CTNNB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013302.1, covering CTNNB1 transcript NM_001904.3.
(upstream sequence)
. . g.5028
aggatacagcggcttctgcgcgacttat c.-241
. . . . . . g.5088
aagagctccttgtgcggcgccattttaagcctctcggtctgtggcagcagcgttggcccg c.-181
. . . . . . g.5148
gccccgggagcggagagcgaggggaggcggagacggaggaaggtctgaggagcagcttca c.-121
. . . . . . g.5208
gtccccgccgagccgccaccgcaggtcgaggacggtcggactcccgcggcgggaggagcc c.-61
. . | 02 . . . . g.29618
tgttcccctgag | ggtatttgaagtataccatacaactgttttgaaaatccagcgtggaca c.-1
. | 03 . . . . . g.30122
ATGGCTACTCAAG | CTGATTTGATGGAGTTGGACATGGCCATGGAACCAGACAGAAAAGCG c.60
M A T Q A | D L M E L D M A M E P D R K A p.20
. . . . . . g.30182
GCTGTTAGTCACTGGCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTGCCACT c.120
A V S H W Q Q Q S Y L D S G I H S G A T p.40
. . . . . . g.30242
ACCACAGCTCCTTCTCTGAGTGGTAAAGGCAATCCTGAGGAAGAGGATGTGGATACCTCC c.180
T T A P S L S G K G N P E E E D V D T S p.60
. . . . . . g.30302
CAAGTCCTGTATGAGTGGGAACAGGGATTTTCTCAGTCCTTCACTCAAGAACAAGTAGCT c.240
Q V L Y E W E Q G F S Q S F T Q E Q V A p.80
| 04 . . . . . . g.30562
G | ATATTGATGGACAGTATGCAATGACTCGAGCTCAGAGGGTACGAGCTGCTATGTTCCCT c.300
D | I D G Q Y A M T R A Q R V R A A M F P p.100
. . . . . . g.30622
GAGACATTAGATGAGGGCATGCAGATCCCATCTACACAGTTTGATGCTGCTCATCCCACT c.360
E T L D E G M Q I P S T Q F D A A H P T p.120
. . . . . . g.30682
AATGTCCAGCGTTTGGCTGAACCATCACAGATGCTGAAACATGCAGTTGTAAACTTGATT c.420
N V Q R L A E P S Q M L K H A V V N L I p.140
. . . . . . g.30742
AACTATCAAGATGATGCAGAACTTGCCACACGTGCAATCCCTGAACTGACAAAACTGCTA c.480
N Y Q D D A E L A T R A I P E L T K L L p.160
. | 05 . . . . . g.30928
AATGACGAGGACCAG | GTGGTGGTTAATAAGGCTGCAGTTATGGTCCATCAGCTTTCTAAA c.540
N D E D Q | V V V N K A A V M V H Q L S K p.180
. . . . . . g.30988
AAGGAAGCTTCCAGACACGCTATCATGCGTTCTCCTCAGATGGTGTCTGCTATTGTACGT c.600
K E A S R H A I M R S P Q M V S A I V R p.200
. . . . . . g.31048
ACCATGCAGAATACAAATGATGTAGAAACAGCTCGTTGTACCGCTGGGACCTTGCATAAC c.660
T M Q N T N D V E T A R C T A G T L H N p.220
. . . . . . g.31108
CTTTCCCATCATCGTGAGGGCTTACTGGCCATCTTTAAGTCTGGAGGCATTCCTGCCCTG c.720
L S H H R E G L L A I F K S G G I P A L p.240
. | 06 . . . . . g.31255
GTGAAAATGCTTGG | TTCACCAGTGGATTCTGTGTTGTTTTATGCCATTACAACTCTCCAC c.780
V K M L G | S P V D S V L F Y A I T T L H p.260
. . . . . . g.31315
AACCTTTTATTACATCAAGAAGGAGCTAAAATGGCAGTGCGTTTAGCTGGTGGGCTGCAG c.840
N L L L H Q E G A K M A V R L A G G L Q p.280
. . . . . . g.31375
AAAATGGTTGCCTTGCTCAACAAAACAAATGTTAAATTCTTGGCTATTACGACAGACTGC c.900
K M V A L L N K T N V K F L A I T T D C p.300
. . . | 07 . . . g.32781
CTTCAAATTTTAGCTTATGGCAACCAAGAAAGCAAG | CTCATCATACTGGCTAGTGGTGGA c.960
L Q I L A Y G N Q E S K | L I I L A S G G p.320
. . . . . . g.32841
CCCCAAGCTTTAGTAAATATAATGAGGACCTATACTTACGAAAAACTACTGTGGACCACA c.1020
P Q A L V N I M R T Y T Y E K L L W T T p.340
. . . . . . g.32901
AGCAGAGTGCTGAAGGTGCTATCTGTCTGCTCTAGTAATAAGCCGGCTATTGTAGAAGCT c.1080
S R V L K V L S V C S S N K P A I V E A p.360
| 08 . . . . . . g.38949
G | GTGGAATGCAAGCTTTAGGACTTCACCTGACAGATCCAAGTCAACGTCTTGTTCAGAAC c.1140
G | G M Q A L G L H L T D P S Q R L V Q N p.380
. . . . | 09 . . g.39093
TGTCTTTGGACTCTCAGGAATCTTTCAGATGCTGCAACTAAACAG | GAAGGGATGGAAGGT c.1200
C L W T L R N L S D A A T K Q | E G M E G p.400
. . . . . . g.39153
CTCCTTGGGACTCTTGTTCAGCTTCTGGGTTCAGATGATATAAATGTGGTCACCTGTGCA c.1260
L L G T L V Q L L G S D D I N V V T C A p.420
. . . . . . g.39213
GCTGGAATTCTTTCTAACCTCACTTGCAATAATTATAAGAACAAGATGATGGTCTGCCAA c.1320
A G I L S N L T C N N Y K N K M M V C Q p.440
. . . . . . g.39273
GTGGGTGGTATAGAGGCTCTTGTGCGTACTGTCCTTCGGGCTGGTGACAGGGAAGACATC c.1380
V G G I E A L V R T V L R A G D R E D I p.460
. . . . . . g.39333
ACTGAGCCTGCCATCTGTGCTCTTCGTCATCTGACCAGCCGACACCAAGAAGCAGAGATG c.1440
T E P A I C A L R H L T S R H Q E A E M p.480
. . . . . . g.39393
GCCCAGAATGCAGTTCGCCTTCACTATGGACTACCAGTTGTGGTTAAGCTCTTACACCCA c.1500
A Q N A V R L H Y G L P V V V K L L H P p.500
. . | 10 . . . . g.39724
CCATCCCACTGGCCTCTGATAAAG | GCTACTGTTGGATTGATTCGAAATCTTGCCCTTTGT c.1560
P S H W P L I K | A T V G L I R N L A L C p.520
. . . . . . g.39784
CCCGCAAATCATGCACCTTTGCGTGAGCAGGGTGCCATTCCACGACTAGTTCAGTTGCTT c.1620
P A N H A P L R E Q G A I P R L V Q L L p.540
. . . . . . g.39844
GTTCGTGCACATCAGGATACCCAGCGCCGTACGTCCATGGGTGGGACACAGCAGCAATTT c.1680
V R A H Q D T Q R R T S M G G T Q Q Q F p.560
| 11 . . . . . . g.41330
GTG | GAGGGGGTCCGCATGGAAGAAATAGTTGAAGGTTGTACCGGAGCCCTTCACATCCTA c.1740
V | E G V R M E E I V E G C T G A L H I L p.580
. . . . . . g.41390
GCTCGGGATGTTCACAACCGAATTGTTATCAGAGGACTAAATACCATTCCATTGTTTGTG c.1800
A R D V H N R I V I R G L N T I P L F V p.600
| 12 . . . . . . g.41955
CAG | CTGCTTTATTCTCCCATTGAAAACATCCAAAGAGTAGCTGCAGGGGTCCTCTGTGAA c.1860
Q | L L Y S P I E N I Q R V A A G V L C E p.620
. . . . . . g.42015
CTTGCTCAGGACAAGGAAGCTGCAGAAGCTATTGAAGCTGAGGGAGCCACAGCTCCTCTG c.1920
L A Q D K E A A E A I E A E G A T A P L p.640
. . . | 13 . . . g.42163
ACAGAGTTACTTCACTCTAGGAATGAAGGTGTGG | CGACATATGCAGCTGCTGTTTTGTTC c.1980
T E L L H S R N E G V A | T Y A A A V L F p.660
. . . . . . g.42223
CGAATGTCTGAGGACAAGCCACAAGATTACAAGAAACGGCTTTCAGTTGAGCTGACCAGC c.2040
R M S E D K P Q D Y K K R L S V E L T S p.680
. . . | 14 . . . g.43589
TCTCTCTTCAGAACAGAGCCAATGGCTTGGAATGAG | ACTGCTGATCTTGGACTTGATATT c.2100
S L F R T E P M A W N E | T A D L G L D I p.700
. . . | 15. . . g.44706
GGTGCCCAGGGAGAACCCCTTGGATATCGCCAGGATG | ATCCTAGCTATCGTTCTTTTCAC c.2160
G A Q G E P L G Y R Q D D | P S Y R S F H p.720
. . . . . . g.44766
TCTGGTGGATATGGCCAGGATGCCTTGGGTATGGACCCCATGATGGAACATGAGATGGGT c.2220
S G G Y G Q D A L G M D P M M E H E M G p.740
. . . . . . g.44826
GGCCACCACCCTGGTGCTGACTATCCAGTTGATGGGCTGCCAGATCTGGGGCATGCCCAG c.2280
G H H P G A D Y P V D G L P D L G H A Q p.760
. . . . . . g.44886
GACCTCATGGATGGGCTGCCTCCAGGTGACAGCAATCAGCTGGCCTGGTTTGATACTGAC c.2340
D L M D G L P P G D S N Q L A W F D T D p.780
g.44892
CTGTAA c.2346
L X p.781
. . . . . . g.44952
atcatcctttaggtaagaagttttaaaaagccagtttgggtaaaatacttttactctgcc c.*60
. . . . . . g.45012
tacagaacttcagaaagacttggttggtagggtgggagtggtttaggctatttgtaaatc c.*120
. . . . . . g.45072
tgccacaaaaacaggtatatactttgaaaggagatgtcttggaacattggaatgttctca c.*180
. . . . . . g.45132
gatttctggttgttatgtgatcatgtgtggaagttattaactttaatgttttttgccaca c.*240
. . . . . . g.45192
gcttttgcaacttaatactcaaatgagtaacatttgctgttttaaacattaatagcagcc c.*300
. . . . . . g.45252
tttctctctttatacagctgtattgtctgaacttgcattgtgattggcctgtagagttgc c.*360
. . . . . . g.45312
tgagagggctcgaggggtgggctggtatctcagaaagtgcctgacacactaaccaagctg c.*420
. . . . . . g.45372
agtttcctatgggaacaattgaagtaaactttttgttctggtcctttttggtcgaggagt c.*480
. . . . . . g.45432
aacaatacaaatggattttgggagtgactcaagaagtgaagaatgcacaagaatggatca c.*540
. . . . . . g.45492
caagatggaatttatcaaaccctagccttgcttgttaaatttttttttttttttttttaa c.*600
. . . . . . g.45552
gaatatctgtaatggtactgactttgcttgctttgaagtagctctttttttttttttttt c.*660
. . . . . . g.45612
tttttttttgcagtaactgttttttaagtctctcgtagtgttaagttatagtgaatactg c.*720
. . . . . . g.45672
ctacagcaatttctaatttttaagaattgagtaatggtgtagaacactaattcataatca c.*780
. . . . . . g.45732
ctctaattaattgtaatctgaataaagtgtaacaattgtgtagcctttttgtataaaata c.*840
. . . . . . g.45792
gacaaatagaaaatggtccaattagtttcctttttaatatgcttaaaataagcaggtgga c.*900
. . . . . . g.45852
tctatttcatgtttttgatcaaaaactatttgggatatgtatgggtagggtaaatcagta c.*960
. . . . . . g.45912
agaggtgttatttggaaccttgttttggacagtttaccagttgccttttatcccaaagtt c.*1020
. . . . . . g.45972
gttgtaacctgctgtgatacgatgcttcaagagaaaatgcggttataaaaaatggttcag c.*1080
. . g.45998
aattaaacttttaattcattcgattg c.*1106
(downstream sequence)
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