(used for variant description)
(last modified July 30, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001085458.1 in the CTNND1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029078.1, covering CTNND1 transcript NM_001085458.1.
(upstream sequence)
. . . g.5031
ggctgacatcacttaggaaagcgaagggggt c.-541
. . . . . . g.5091
agggctgccagatcagtttgtcaccacccaggctcccttgcctttggctgggtgcaactt c.-481
. . . . . . g.5151
ccattttaggtgttggatctgagggggaaaaaaaagagagagggagagagagagaaagaa c.-421
. . . . . . g.5211
gagcaggaaagatcccgaaaggaggaagaggtggcgaaaaatcaactgccctgctggatt c.-361
. . . . . . g.5271
tgtctttctcagcaccttggcgaagccttgggtttctttcttaaaggactgatttttaga c.-301
. . . . . . g.5331
actccacatttgaggtgtgtggcttttgaagaaaatgtatgtactgacgggaaaaggagg c.-241
. . . | 02 . . . g.32308
ataagcaagtcgaatttttgtcttacg | ctctctccttcctgcttcctccttgctgtggtg c.-181
. . . . . . g.32368
gctgggatgcttcttccatgattttttgaatctagactgggctgttctctgtgttaaacc c.-121
. . . | 03 . . . g.34657
aatcagttgcgaccttctcttaacag | tgtgaagtgagggggtctctctccctccttctcc c.-61
. . . . . . g.34717
ttcctctgtgattcaccttcctttttaccctgccctgcggcggctccgccccttaccttc c.-1
. . . . . . g.34777
ATGGACGACTCAGAGGTGGAGTCGACCGCCAGCATCTTGGCCTCTGTGAAGGAACAAGAG c.60
M D D S E V E S T A S I L A S V K E Q E p.20
. . . . . . g.34837
GCCCAGTTTGAGAAGCTGACCCGGGCGCTGGAGGAGGAACGGCGCCACGTCTCGGCGCAG c.120
A Q F E K L T R A L E E E R R H V S A Q p.40
. . . . . . g.34897
CTGGAACGCGTCCGGGTCTCACCACAAGATGCCAACCCACTCATGGCCAACGGCACACTC c.180
L E R V R V S P Q D A N P L M A N G T L p.60
. | 04 . . . . . g.37293
ACCCGCCGGCATCAG | AACGGCCGGTTTGTGGGCGATGCTGACCTTGAAAGACAGAAATTT c.240
T R R H Q | N G R F V G D A D L E R Q K F p.80
. . | 05. . . . g.38848
TCAGATTTGAAACTCAACGGACCCCAG | GATCACAGTCACCTTCTATATAGCACCATCCCC c.300
S D L K L N G P Q | D H S H L L Y S T I P p.100
. . . . . . g.38908
AGGATGCAGGAGCCGGGGCAGATTGTGGAGACCTACACGGAGGAGGATCCTGAGGGAGCC c.360
R M Q E P G Q I V E T Y T E E D P E G A p.120
. . . . . . g.38968
ATGTCTGTAGTCTCTGTGGAGACCTCAGATGATGGGACCACTCGGCGCACAGAGACCACG c.420
M S V V S V E T S D D G T T R R T E T T p.140
| 06 . . . . . . g.39755
| GTCAAGAAAGTAGTGAAGACTGTGACAACACGGACAGTACAGCCAGTCGCTATGGGACCA c.480
| V K K V V K T V T T R T V Q P V A M G P p.160
. . . . . . g.39815
GACGGGTTGCCTGTGGATGCTTCATCAGTTTCTAACAACTATATCCAGACTTTGGGTCGT c.540
D G L P V D A S S V S N N Y I Q T L G R p.180
. . . . . . g.39875
GATTTCCGCAAGAATGGCAATGGGGGACCTGGTCCCTATGTGGGGCAAGCTGGCACTGCT c.600
D F R K N G N G G P G P Y V G Q A G T A p.200
. . . . . . g.39935
ACCCTTCCTAGGAACTTCCACTACCCTCCTGATGGTTATAGTCGCCACTATGAAGATGGT c.660
T L P R N F H Y P P D G Y S R H Y E D G p.220
. . . . . . g.39995
TATCCAGGTGGCAGTGATAACTATGGCAGTCTGTCCCGGGTGACCCGCATTGAGGAGCGG c.720
Y P G G S D N Y G S L S R V T R I E E R p.240
. . . . . . g.40055
TATAGGCCCAGCATGGAAGGCTACCGGGCACCTAGTAGACAGGATGTGTATGGGCCCCAA c.780
Y R P S M E G Y R A P S R Q D V Y G P Q p.260
. . . . . . g.40115
CCCCAGGTTCGGGTAGGTGGGAGCAGCGTGGATCTGCATCGCTTTCATCCAGAGCCTTAT c.840
P Q V R V G G S S V D L H R F H P E P Y p.280
. . . . . . g.40175
GGGCTAGAGGATGACCAGCGTAGTATGGGCTATGATGACCTGGATTATGGTATGATGTCT c.900
G L E D D Q R S M G Y D D L D Y G M M S p.300
. . . . . | 07 . g.44975
GATTATGGCACTGCCCGTCGGACTGGGACACCCTCTGACCCTCGTCGGCGCCTCAG | GAGC c.960
D Y G T A R R T G T P S D P R R R L R | S p.320
. . . . . . g.45035
TATGAAGACATGATTGGTGAGGAGGTGCCATCGGATCAATACTACTGGGCTCCTTTGGCC c.1020
Y E D M I G E E V P S D Q Y Y W A P L A p.340
. . . . . . g.45095
CAGCATGAGCGAGGAAGTTTAGCAAGCTTGGATAGCCTGCGCAAAGGAGGGCCTCCACCT c.1080
Q H E R G S L A S L D S L R K G G P P P p.360
. . . . . . g.45155
CCTAATTGGAGACAGCCAGAGCTGCCAGAGGTGATCGCCATGCTTGGATTCCGCTTGGAT c.1140
P N W R Q P E L P E V I A M L G F R L D p.380
. . . . . . g.45215
GCTGTCAAGTCCAATGCAGCTGCATACCTGCAACACTTATGCTACCGCAATGACAAGGTG c.1200
A V K S N A A A Y L Q H L C Y R N D K V p.400
. . . . . . g.45275
AAGACTGACGTGCGGAAGCTCAAGGGCATCCCAGTACTGGTGGGATTGTTAGACCATCCC c.1260
K T D V R K L K G I P V L V G L L D H P p.420
. . . . . . g.45335
AAAAAGGAAGTGCACCTTGGAGCCTGTGGAGCTCTCAAGAATATCTCTTTTGGACGTGAC c.1320
K K E V H L G A C G A L K N I S F G R D p.440
. . . . . . g.45395
CAGGATAACAAGATTGCCATAAAAAACTGTGATGGTGTGCCTGCCCTTGTGCGATTGCTT c.1380
Q D N K I A I K N C D G V P A L V R L L p.460
. . . . | 08 . . g.46879
CGAAAGGCTCGTGATATGGACCTTACTGAAGTTATTACCG | GAACCCTGTGGAATCTTTCA c.1440
R K A R D M D L T E V I T G | T L W N L S p.480
. . . . . . g.46939
TCCCATGACTCAATCAAAATGGAGATTGTGGACCATGCACTGCATGCCTTGACAGATGAA c.1500
S H D S I K M E I V D H A L H A L T D E p.500
. . . . . . g.46999
GTGATCATTCCTCATTCTGGTTGGGAGCGGGAACCTAATGAAGACTGTAAGCCACGCCAT c.1560
V I I P H S G W E R E P N E D C K P R H p.520
. . . . | 09 . . g.47917
ATTGAGTGGGAATCGGTGCTCACCAACACAGCTGGCTGCCTTAG | GAATGTAAGCTCAGAG c.1620
I E W E S V L T N T A G C L R | N V S S E p.540
. . . . . . g.47977
AGGAGTGAAGCTCGCCGGAAACTTCGGGAATGTGATGGTTTAGTTGATGCCCTCATTTTC c.1680
R S E A R R K L R E C D G L V D A L I F p.560
. . . . | 10 . . g.49138
ATTGTTCAGGCTGAGATTGGGCAGAAGGATTCAGACAGCAAG | CTTGTAGAGAACTGTGTT c.1740
I V Q A E I G Q K D S D S K | L V E N C V p.580
. . . . . . g.49198
TGCCTTCTTCGGAACTTATCATATCAAGTTCACCGGGAGATCCCACAGGCAGAGCGTTAC c.1800
C L L R N L S Y Q V H R E I P Q A E R Y p.600
. . . . . . g.49258
CAAGAGGCAGCTCCCAATGTTGCCAACAATACTGGGCCACATGCTGCCAGTTGCTTTGGG c.1860
Q E A A P N V A N N T G P H A A S C F G p.620
. | 11 . . | 12 . . . g.50179
GCCAAGAAGGGCAAAG | ATGAGTGGTTCTCCAGAG | GGAAAAAACCTATAGAGGATCCAGCA c.1920
A K K G K D | E W F S R G | K K P I E D P A p.640
. . . . | 13 . . g.51420
AACGATACAGTGGATTTCCCTAAAAGAACGAGTCCAGCTCGAG | GCTATGAGCTCTTATTT c.1980
N D T V D F P K R T S P A R G | Y E L L F p.660
. . . . . . g.51480
CAGCCAGAGGTGGTTCGGATATACATCTCACTTCTTAAGGAGAGCAAGACTCCTGCCATC c.2040
Q P E V V R I Y I S L L K E S K T P A I p.680
. . . . . | 14 . g.51637
CTAGAAGCCTCAGCTGGAGCTATCCAGAACTTGTGTGCTGGGCGCTGGACG | TATGGTCGA c.2100
L E A S A G A I Q N L C A G R W T | Y G R p.700
. . . . . . g.51697
TACATCCGCTCTGCTCTGCGTCAAGAGAAGGCTCTTTCTGCCATAGCTGACCTCCTGACT c.2160
Y I R S A L R Q E K A L S A I A D L L T p.720
. . . . . . g.51757
AATGAACATGAACGGGTGGTGAAAGCTGCATCTGGAGCACTGAGAAACCTGGCTGTGGAT c.2220
N E H E R V V K A A S G A L R N L A V D p.740
. . | 15 . . . . g.52550
GCTCGCAACAAAGAATTAATTG | GTAAACATGCTATTCCTAACTTGGTAAAGAATCTGCCA c.2280
A R N K E L I G | K H A I P N L V K N L P p.760
. . . . . . g.52610
GGAGGACAGCAGAACTCCTCTTGGAATTTCTCTGAGGACACTGTCATCTCTATTTTGAAC c.2340
G G Q Q N S S W N F S E D T V I S I L N p.780
. . . . . . g.52670
ACTATCAACGAGGTTATCGCTGAGAACTTGGAGGCTGCCAAAAAGCTTCGAGAGACACAG c.2400
T I N E V I A E N L E A A K K L R E T Q p.800
. . . | 16 . . . g.53372
GGTATTGAGAAGCTGGTGTTGATCAACAAATCAGG | GAACCGCTCAGAAAAAGAAGTTCGA c.2460
G I E K L V L I N K S G | N R S E K E V R p.820
. . . . . . g.53432
GCAGCAGCACTTGTATTACAGACAATCTGGGGATATAAGGAACTGCGGAAGCCACTGGAA c.2520
A A A L V L Q T I W G Y K E L R K P L E p.840
. . . | 17 . . . g.54667
AAAGAAGGATGGAAGAAATCAGACTTTCAG | GTGAATCTAAACAATGCTTCCCGAAGCCAG c.2580
K E G W K K S D F Q | V N L N N A S R S Q p.860
. . . . . | 18 g.57551
AGCAGTCATTCATATGATGATAGTACTCTCCCTCTCATTGACCGGAACCAAAAATCAG | AT c.2640
S S H S Y D D S T L P L I D R N Q K S D | p.880
. . . . . . g.57611
AAGAAACCTGATCGGGAAGAAATTCAGATGAGCAATATGGGATCAAACACAAAATCACTA c.2700
K K P D R E E I Q M S N M G S N T K S L p.900
| 19 . . . . . . g.58691
G | ATAACAACTATTCCACACCAAATGAGAGAGGAGACCACAATAGAACACTGGATCGATCG c.2760
D | N N Y S T P N E R G D H N R T L D R S p.920
. . . . | 20 . g.59165
GGGGATCTAGGCGACATGGAGCCATTGAAGGGAACAACACCCTTGATG | CAGGACGAGGGG c.2820
G D L G D M E P L K G T T P L M | Q D E G p.940
. . . . . . g.59225
CAGGAATCTCTGGAGGAAGAGTTGGATGTGTTGGTTTTGGATGATGAGGGGGGCCAAGTG c.2880
Q E S L E E E L D V L V L D D E G G Q V p.960
. | 21 . g.59580
TCTTACCCCTCCATG | CAGAAGATTTAG c.2907
S Y P S M | Q K I X p.968
. . . . . . g.59640
caccactatctccgttccatctgggcttatatgtacttttattttttggtggtgaaattg c.*60
. . . . . . g.59700
actgatgattttcctttttcttcgctggactattgtgccaactgccaggctgcctcctgc c.*120
. . . . . . g.59760
ccttacagccctaagtggctgccttctttccatcaactcccaacttcttcctgtgaagtt c.*180
. . . . . . g.59820
taattgtctcaacgcctccccctcccccattccctccatttttctcccaagaaacctgac c.*240
. . . . . . g.59880
tcaattatttgcatattttgagaaactgctgcagattagttctttttgccagttttccct c.*300
. . . . . . g.59940
ggaactcctggccttttgtggaggggagggatggagagaataggaatcttcactagaagc c.*360
. . . . . . g.60000
cgtgggaagaattggaagttacatgctgtatatgcaatgtccagcagtctgataaactga c.*420
. . . . . . g.60060
cgattcttaatcaagatttttttcctgatggggaagggacttttattttcttttagagag c.*480
. . . . . . g.60120
gggaaagtgtgagctcttcccttattcctaatggctatttttgaagcaaagaaggccagc c.*540
. . . . . . g.60180
aacattggcacatgccacctggcaaaggacccttgagtaagtgaaggtctcctaaaactg c.*600
. . . . . . g.60240
ggattaagaaaccttgctctcctcatctccaaggcagggaccatcaagaacctacagact c.*660
. . . . . . g.60300
ccatctcttctgcaagcctcatgccaaccctgggctattgctgctgccccttaaacacag c.*720
. . . . . . g.60360
gctgtccttaacccacctctcctgccctgtgatatgtctgctgagttggcctggccattt c.*780
. . . . . . g.60420
ccaagaggctgtagaaaggggagaatgtcaaggaagacttttggtagagaaggagcagaa c.*840
. . . . . . g.60480
agatgtgtttttgggaagaagaagacctctaggaggagctagtaggaatgtacatgaagc c.*900
. . . . . . g.60540
aattagtctgaaactggcttccccactcccccgtttctccttttcctatccttataggcc c.*960
. . . . . . g.60600
tgtcccttgcctctgccctggattggttggcaaactaaaggacttgatgtacataactcc c.*1020
. . . . . . g.60660
tgtcccttttcccttacaaggtggggattgcccctggctttgcctcttctttgtgccttt c.*1080
. . . . . . g.60720
ggcctggggtgcatctcctcccgcccttccatgtgcctttctttgcctctgcagtctcat c.*1140
. . . . . . g.60780
ttctcataattttgcaaattatattttgttgctttcttacctactattggccctaaatag c.*1200
. . . . . . g.60840
cagaaagaagagaagtgaccgagagaacctcagattcttcattgaggattggtatagcca c.*1260
. . . . . . g.60900
tgatttcagtcatagcaagcttttgctcaacagcatatgggtgggattttgcaaaaatcc c.*1320
. . . . . . g.60960
tattctgatgaatctcaaagtaaggctggtaagagaagtgagtggtgtgactcttactcc c.*1380
. . . . . . g.61020
ttaggtgcccagaatttaccatcatctctgaaggagttacagggaagtggtctccccaat c.*1440
. . . . . . g.61080
tctcccctccctccagtattgccccctctcactttagcatatattaattagcaggttggg c.*1500
. . . . . . g.61140
ctagagaaatcagctgctatgcgggttgattattattattatttctaatccttttcctta c.*1560
. . . . . . g.61200
tttgccttctactccccttaatctaatctaaaagctctgttccatgcaactggagttcct c.*1620
. . . . . . g.61260
tatccctctcttccccttcccttatatattgaggctatggggtaggagaaaagtgcacaa c.*1680
. . . . . . g.61320
cccaccaccccctttactcgtgcattaaaatttcttatttacccttttcccccttcccat c.*1740
. . . . . . g.61380
ttcttcccactttcatctaccttttctggcaaaaaggagccttttgctctctgtgaccct c.*1800
. . . . . . g.61440
aagagcacactgcacagggaaaattgccccatccagacctggctccactcttgatctctc c.*1860
. . . . . . g.61500
ttgtcctcttctgctcttttcctggtgctcttttttctcggtggggtgtgggtaatagaa c.*1920
. . . . . . g.61560
cagccgtgggcttttggggacctttaacttttttttctctcttttgtttataaaaaacac c.*1980
. . . . . . g.61620
taaacattcaattccagagaaccaaaaatcccaccttcccaccgaacactactaaggggc c.*2040
. . . . . . g.61680
ttgtgttctgctccataccttttctcttttctttctgtcttgttaatgcttttaaaaaca c.*2100
. . . . . . g.61740
aatgagttttttatataaataaagtttttaaagtgtgtatgtggggggtctgtgtcattt c.*2160
. . . . . . g.61800
cttcacttcaagctgttatttcttccctgctttgcatctttgttacttccttatgtatca c.*2220
. . . . . . g.61860
gtgtcctttccagagcaaccagaaggaggttataccaggatttattttgagctcagcccc c.*2280
. . . . . . g.61920
aactctttatcaagcaacattcttgttaactatatgtgaaacattttttcttctgaagat c.*2340
. . . . . . g.61980
tcttaaaaattgaatgtggctgaagttgaacatgggagcttattgctaatttagagatag c.*2400
. . . . . . g.62040
gaaactgaagcataaagaattaatgacttactttaattactggaattcttctgcaacatt c.*2460
. . . . . . g.62100
tgacaaaactaaccttgaataaggcccactgtaatacgtagctctcttaaatataacact c.*2520
. . . . . . g.62160
taggactagaagattagaaactaccaatcccaactacgtaataggaaaatgtaggatcaa c.*2580
. . . . . . g.62220
aaggcccatgtatataagtactgaccactgggccataatgttgcttctcaggctatatgc c.*2640
. . . . . . g.62280
agtcctttagtcagaagtcaataggcctatttattaatattttacagaccatattacctg c.*2700
. . . . . . g.62340
gattaccagggactatctttgctgcagagatcaagggttaagatctatgggaagatactt c.*2760
. . . . . . g.62400
atttttctgaggtccttatgtcctgtcatataattaaagactcaagagaatttatgtgaa c.*2820
. . . . . g.62452
atgctttctgtatgcccaaatctttagattaaaattatatagctgctcctga c.*2872
(downstream sequence)
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