(used for variant description)
(last modified September 30, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000356.3 in the TCOF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011341.1, covering TCOF1 transcript NM_000356.3.
(upstream sequence)
. . . . g.5048
gaaagaggagccggaagtgtggcgcgcgaggtctaagggcgcgaggga c.-61
. . . . . . g.5108
agtggcgggcggggactaaggcggggcgtgcaggtagccggccggccgggggtcgcgggt c.-1
. . . . . . g.5168
ATGGCCGAGGCCAGGAAGCGGCGGGAGCTACTTCCCCTGATCTACCACCATCTGCTGCGG c.60
M A E A R K R R E L L P L I Y H H L L R p.20
. . . . | 02 . g.8529
GCTGGCTATGTGCGTGCGGCGCGGGAAGTGAAGGAGCAGAGCGGCCAG | AAGTGTTTCCTG c.120
A G Y V R A A R E V K E Q S G Q | K C F L p.40
. . . . | 03 . . g.11490
GCTCAGCCCGTAACCCTTCTGGACATCTATACACACTGGCAACA | AACCTCAGAGCTTGGT c.180
A Q P V T L L D I Y T H W Q Q | T S E L G p.60
. . . . . . g.11550
CGGAAGCGGAAGGCAGAGGAAGATGCGGCACTGCAAGCTAAGAAAACCCGTGTGTCAGAC c.240
R K R K A E E D A A L Q A K K T R V S D p.80
. . . . . . g.11610
CCCATCAGCACCTCGGAGAGCTCGGAAGAGGAGGAAGAAGCAGAAGCCGAAACCGCCAAA c.300
P I S T S E S S E E E E E A E A E T A K p.100
| 04 . . . . . . g.15261
GCCA | CCCCAAGACTAGCATCTACCAACTCCTCAGTCCTGGGGGCGGACTTGCCATCAAGC c.360
A T | P R L A S T N S S V L G A D L P S S p.120
. | 05 . . . . g.16119
ATGAAAGAAAAAGCCAAG | GCAGAGACAGAGAAAGCTGGCAAGACTGGGAATTCCATGCCA c.420
M K E K A K | A E T E K A G K T G N S M P p.140
. . . . . . g.16179
CACCCTGCCACTGGGAAGACGGTGGCCAACCTTCTTTCTGGGAAGTCTCCCAGGAAGTCA c.480
H P A T G K T V A N L L S G K S P R K S p.160
. . . . . . g.16239
GCAGAGCCCTCAGCAAATACTACGTTGGTCTCAGAAACTGAGGAGGAGGGCAGCGTCCCG c.540
A E P S A N T T L V S E T E E E G S V P p.180
. . | 06 . . . . g.16925
GCCTTTGGAGCTGCTGCCAAGCCTG | GGATGGTGTCAGCGGGCCAGGCCGACAGCTCCAGC c.600
A F G A A A K P G | M V S A G Q A D S S S p.200
. . . | 07 . . g.21556
GAGGACACCTCCAGCTCCAGTGATGAGACAGACGTGGAG | GTAAAGGCCTCTGAAAAAATT c.660
E D T S S S S D E T D V E | V K A S E K I p.220
. . . . . . g.21616
CTCCAGGTCAGAGCTGCCTCAGCCCCTGCCAAGGGGACCCCTGGGAAAGGGGCTACCCCA c.720
L Q V R A A S A P A K G T P G K G A T P p.240
. . . . . . g.21676
GCACCCCCTGGGAAGGCAGGGGCTGTAGCCTCCCAGACCAAGGCAGGGAAGCCAGAGGAG c.780
A P P G K A G A V A S Q T K A G K P E E p.260
. . . . . . g.21736
GACTCAGAGAGCAGCAGCGAGGAGTCATCTGACAGTGAGGAGGAGACGCCAGCTGCCAAG c.840
D S E S S S E E S S D S E E E T P A A K p.280
. | 08 . . . . . g.22026
GCCCTGCTTCAG | GCGAAGGCCTCAGGAAAAACCTCTCAGGTCGGAGCTGCCTCAGCCCCT c.900
A L L Q | A K A S G K T S Q V G A A S A P p.300
. . . . . . g.22086
GCCAAGGAGTCCCCCAGGAAAGGAGCTGCCCCAGCGCCCCCTGGGAAGACAGGGCCTGCA c.960
A K E S P R K G A A P A P P G K T G P A p.320
. . . . . . g.22146
GTTGCCAAGGCCCAGGCGGGGAAGCGGGAGGAGGACTCGCAGAGCAGCAGCGAGGAATCG c.1020
V A K A Q A G K R E E D S Q S S S E E S p.340
. . | 09. . . . g.22348
GACAGTGAGGAGGAGGCGCCTGCTCAG | GCGAAGCCTTCAGGGAAGGCCCCCCAGGTCAGA c.1080
D S E E E A P A Q | A K P S G K A P Q V R p.360
. . . . . . g.22408
GCCGCCTCGGCCCCTGCCAAGGAGTCCCCCAGGAAAGGGGCTGCCCCAGCACCTCCTAGG c.1140
A A S A P A K E S P R K G A A P A P P R p.380
. . . . . . g.22468
AAAACAGGGCCTGCAGCCGCCCAGGTCCAGGTGGGGAAGCAGGAGGAGGACTCAAGAAGC c.1200
K T G P A A A Q V Q V G K Q E E D S R S p.400
. . . . . | 10. g.22703
AGCAGCGAGGAGTCAGACAGTGACAGAGAGGCACTGGCAGCCATGAATGCAGCTCAG | GTG c.1260
S S E E S D S D R E A L A A M N A A Q | V p.420
. . . . . . g.22763
AAGCCCTTGGGGAAAAGCCCCCAGGTGAAACCTGCCTCTACCATGGGCATGGGGCCCTTG c.1320
K P L G K S P Q V K P A S T M G M G P L p.440
. . . . . . g.22823
GGGAAAGGCGCCGGCCCAGTGCCACCCGGGAAGGTGGGGCCTGCAACCCCCTCAGCCCAG c.1380
G K G A G P V P P G K V G P A T P S A Q p.460
. . . . . . g.22883
GTGGGGAAGTGGGAGGAGGACTCAGAGAGCAGTAGTGAGGAGTCATCAGACAGCAGTGAT c.1440
V G K W E E D S E S S S E E S S D S S D p.480
. . . | 11 . . . g.23109
GGAGAGGTGCCCACAGCTGTGGCCCCGGCTCAG | GAAAAGTCCTTGGGGAACATCCTCCAG c.1500
G E V P T A V A P A Q | E K S L G N I L Q p.500
. . . . . . g.23169
GCCAAACCCACCTCCAGTCCTGCCAAGGGGCCCCCTCAGAAGGCAGGGCCTGTAGCCGTC c.1560
A K P T S S P A K G P P Q K A G P V A V p.520
. . . . . . g.23229
CAGGTCAAGGCTGAAAAGCCCATGGACAACTCGGAGAGCAGCGAGGAGTCATCGGACAGT c.1620
Q V K A E K P M D N S E S S E E S S D S p.540
. . . . | 12 . . g.23461
GCGGACAGTGAGGAGGCACCAGCAGCCATGACTGCAGCTCAG | GCAAAACCAGCTCTGAAA c.1680
A D S E E A P A A M T A A Q | A K P A L K p.560
. . . . . . g.23521
ATTCCTCAGACCAAGGCCTGCCCAAAGAAAACCAATACCACTGCATCTGCCAAGGTCGCC c.1740
I P Q T K A C P K K T N T T A S A K V A p.580
. . . . . . g.23581
CCTGTGCGAGTGGGCACCCAAGCCCCCCGGAAAGCAGGAACTGCGACTTCTCCAGCAGGC c.1800
P V R V G T Q A P R K A G T A T S P A G p.600
. . . . . . g.23641
TCATCCCCAGCTGTGGCTGGGGGCACCCAGAGACCAGCAGAGGATTCTTCAAGCAGTGAG c.1860
S S P A V A G G T Q R P A E D S S S S E p.620
. . . . . | 13 . g.23793
GAATCAGATAGTGAGGAAGAGAAGACAGGTCTTGCAGTAACCGTGGGACAG | GCAAAGTCT c.1920
E S D S E E E K T G L A V T V G Q | A K S p.640
. . . . . . g.23853
GTGGGGAAAGGCCTCCAGGTGAAAGCAGCCTCAGTGCCTGTCAAGGGGTCCTTGGGGCAA c.1980
V G K G L Q V K A A S V P V K G S L G Q p.660
. . . . . . g.23913
GGGACTGCTCCAGTACTCCCTGGGAAGACGGGGCCTACAGTCACCCAGGTGAAAGCTGAA c.2040
G T A P V L P G K T G P T V T Q V K A E p.680
. . . . . . g.23973
AAGCAGGAAGACTCTGAGAGCAGTGAGGAGGAATCAGACAGTGAGGAAGCAGCTGCATCT c.2100
K Q E D S E S S E E E S D S E E A A A S p.700
| 14 . . . . . g.26317
CCAGCACAG | GTGAAAACCTCAGTAAAGAAAACCCAGGCCAAAGCCAACCCAGCTGCCGCC c.2160
P A Q | V K T S V K K T Q A K A N P A A A p.720
. . . . . . g.26377
AGAGCACCTTCAGCAAAAGGGACAATTTCAGCCCCTGGAAAAGTTGTCACTGCAGCTGCT c.2220
R A P S A K G T I S A P G K V V T A A A p.740
. . | 15. . . . g.26623
CAAGCCAAGCAGAGGTCTCCATCCAAG | GTGAAGCCACCAGTGAGAAACCCCCAGAACAGT c.2280
Q A K Q R S P S K | V K P P V R N P Q N S p.760
. . . . . . g.26683
ACCGTCTTGGCGAGGGGCCCAGCATCTGTGCCATCTGTGGGGAAGGCCGTGGCTACAGCA c.2340
T V L A R G P A S V P S V G K A V A T A p.780
. . . . . . g.26743
GCTCAGGCCCAGACAGGGCCAGAGGAGGACTCAGGGAGCAGTGAGGAGGAGTCAGACAGT c.2400
A Q A Q T G P E E D S G S S E E E S D S p.800
. . | 16. . . . g.26926
GAGGAGGAGGCGGAGACGCTGGCTCAG | GTGAAGCCTTCAGGGAAGACCCACCAGATCAGA c.2460
E E E A E T L A Q | V K P S G K T H Q I R p.820
. . . . . . g.26986
GCTGCCTTGGCTCCTGCCAAGGAGTCCCCCAGGAAAGGGGCTGCCCCAACACCTCCTGGG c.2520
A A L A P A K E S P R K G A A P T P P G p.840
. . . . . . g.27046
AAGACAGGGCCTTCGGCTGCCCAGGCAGGGAAGCAGGATGACTCAGGGAGCAGCAGCGAG c.2580
K T G P S A A Q A G K Q D D S G S S S E p.860
. . . . | 17 . g.35275
GAATCAGACAGTGATGGGGAGGCACCGGCAGCTGTGACCTCTGCCCAG | GTGATTAAACCC c.2640
E S D S D G E A P A A V T S A Q | V I K P p.880
. . . . . . g.35335
CCTCTGATTTTTGTCGACCCTAATCGTAGTCCAGCTGGCCCAGCTGCTACACCCGCACAA c.2700
P L I F V D P N R S P A G P A A T P A Q p.900
. . . . . . g.35395
GCCCAGGCTGCAAGCACCCCGAGGAAGGCCCGAGCCTCGGAGAGCACAGCCAGGAGCTCC c.2760
A Q A A S T P R K A R A S E S T A R S S p.920
. . . . . | 18 . g.37253
TCCTCCGAGAGCGAGGATGAGGACGTGATCCCCGCTACACAGTGCTTGACTCCTG | GCATC c.2820
S S E S E D E D V I P A T Q C L T P G | I p.940
. . . . . . g.37313
AGAACCAATGTGGTGACCATGCCCACTGCCCACCCAAGAATAGCCCCCAAAGCCAGCATG c.2880
R T N V V T M P T A H P R I A P K A S M p.960
. . . . . . g.37373
GCTGGGGCCAGCAGCAGCAAGGAGTCCAGTCGGATATCAGATGGCAAGAAACAGGAGGGA c.2940
A G A S S S K E S S R I S D G K K Q E G p.980
. | 19 . . . . . g.38953
CCAGCCACTCAG | GTGTCAAAGAAGAACCCAGCTTCCCTCCCACTGACCCAGGCTGCCCTG c.3000
P A T Q | V S K K N P A S L P L T Q A A L p.1000
. . . . . . g.39013
AAGGTCCTCGCCCAGAAAGCCAGTGAGGCTCAGCCTCCTGTTGCCAGGACCCAGCCTTCA c.3060
K V L A Q K A S E A Q P P V A R T Q P S p.1020
| 20 . . . . . . g.39372
AGTGGG | GTTGACAGTGCTGTGGGAACACTCCCTGCAACAAGTCCCCAGAGCACCTCCGTC c.3120
S G | V D S A V G T L P A T S P Q S T S V p.1040
. . . . . . g.39432
CAGGCCAAAGGGACCAACAAGCTCAGAAAACCTAAGCTTCCTGAGGTCCAGCAGGCCACC c.3180
Q A K G T N K L R K P K L P E V Q Q A T p.1060
. . . . . . g.39492
AAAGCCCCTGAGAGCTCAGATGACAGTGAGGACAGCAGCGACAGTTCTTCAGGGAGTGAG c.3240
K A P E S S D D S E D S S D S S S G S E p.1080
. . . . | 21 . . g.40083
GAAGATGGTGAAGGGCCCCAGGGGGCCAAGTCAGCCCACACGCTGG | GTCCCACCCCCTCC c.3300
E D G E G P Q G A K S A H T L G | P T P S p.1100
. . . . . . g.40143
AGGACAGAGACCCTGGTGGAGGAGACCGCAGCAGAGTCCAGCGAGGATGATGTGGTGGCG c.3360
R T E T L V E E T A A E S S E D D V V A p.1120
| 22 . . . . . g.40784
CCATCCCAG | TCTCTCCTCTCAGGTTATATGACCCCTGGACTAACCCCAGCCAATTCCCAG c.3420
P S Q | S L L S G Y M T P G L T P A N S Q p.1140
. . . . . . g.40844
GCCTCAAAAGCCACTCCCAAGCTAGACTCCAGCCCCTCAGTTTCCTCTACTCTGGCCGCC c.3480
A S K A T P K L D S S P S V S S T L A A p.1160
. . . . . . g.40904
AAAGATGACCCAGATGGCAAGCAGGAGGCAAAGCCCCAACAGGCAGCAGGCATGTTGTCC c.3540
K D D P D G K Q E A K P Q Q A A G M L S p.1180
. | 23 . . . . . g.43693
CCTAAAACAG | GTGGAAAAGAGGCTGCTTCAGGCACCACACCTCAGAAGTCCCGGAAGCCC c.3600
P K T G | G K E A A S G T T P Q K S R K P p.1200
. . . . . . g.43753
AAGAAAGGGGCTGGGAACCCCCAAGCCTCAACCCTGGCGCTGCAAAGCAACATCACCCAG c.3660
K K G A G N P Q A S T L A L Q S N I T Q p.1220
. . . . . . g.43813
TGCCTCCTGGGCCAACCCTGGCCCCTGAATGAGGCCCAGGTGCAGGCCTCAGTGGTGAAG c.3720
C L L G Q P W P L N E A Q V Q A S V V K p.1240
. . . . . . g.43873
GTCCTGACTGAGCTGCTGGAACAGGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGC c.3780
V L T E L L E Q E R K K V V D T T K E S p.1260
. . . . . . g.43933
AGCAGGAAGGGCTGGGAGAGCCGCAAGCGGAAGCTATCGGGAGACCAGCCAGCTGCCAGG c.3840
S R K G W E S R K R K L S G D Q P A A R p.1280
. . . . . . g.43993
ACCCCCAGGAGCAAGAAGAAGAAGAAGCTGGGGGCCGGGGAAGGTGGGGAGGCCTCTGTT c.3900
T P R S K K K K K L G A G E G G E A S V p.1300
. . . . . . g.44053
TCCCCAGAAAAGACCTCCACGACTTCCAAGGGGAAAGCAAAGAGAGACAAAGCAAGTGGT c.3960
S P E K T S T T S K G K A K R D K A S G p.1320
. . . . . . g.44113
GATGTCAAGGAGAAGAAAGGGAAGGGGTCTCTTGGCTCCCAAGGGGCCAAGGACGAGCCA c.4020
D V K E K K G K G S L G S Q G A K D E P p.1340
. . . . . . g.44173
GAAGAGGAGCTTCAGAAGGGGATGGGGACGGTTGAAGGTGGAGATCAAAGCAACCCAAAG c.4080
E E E L Q K G M G T V E G G D Q S N P K p.1360
. . . | 24 . . . g.45744
AGCAAGAAGGAGAAGAAGAAATCCGACAAGA | GAAAAAAAGACAAAGAAAAAAAAGAAAAG c.4140
S K K E K K K S D K R | K K D K E K K E K p.1380
. . . . . . g.45804
AAGAAGAAAGCAAAAAAGGCCTCAACCAAAGATTCTGAGTCACCGTCCCAGAAGAAAAAG c.4200
K K K A K K A S T K D S E S P S Q K K K p.1400
| 25 . . g.46434
AAGAAAAAG | AAGAAGACAGCAGAGCAGACTGTATGA | c.4237
K K K | K K T A E Q T V X p.1411
. . | 26 . . . . g.47233
cgagcaccagcaccaggcacag | ggatttcctagccgagcagtggccatccccatgcctct c.*60
. . . . . . g.47293
gacctccaccgacctctgcccaccatgggttggaactaaactgttaccttccctcgctcc c.*120
. . . . . . g.47353
acagaagaagacagccagcttcaggggtccctgtgctggccaagccagtgagcctgcggg c.*180
. . . . . . g.47413
gaggctggtccaaggagaaagtggaccagctcccatgacctcaccccactcccccaacac c.*240
. . . . . . g.47473
aggacgcttcatatagatgtgtacagtatatgtatttttttaagtgacctcctctccttc c.*300
. . . . . . g.47533
cacagaccccacatgcccaaaggcctcgggacttcccaccaccttgctccacagatccag c.*360
. . . . . . g.47593
ctaggcctgacctgtgcctcatcccgtgccgctcggtctctggctgatcccgaggctttg c.*420
. . . . . . g.47653
tcttcctctcgtcagttcttttggttgtgttttttgttttttttttaataactcaaaaaa c.*480
. . . . g.47694
aaaataaaagacttggaggaagggtgcaagctcccagtgca c.*521
(downstream sequence)
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