(used for variant description)
(last modified May 28, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_005679.3 in the TAF1C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering TAF1C transcript NM_005679.3.
(upstream sequence)
g.5002
ag c.-241
. . . . . . g.5062
gaggcacttccggtccaaaccggaagaccgtgggtagctgcggcggggctgacccgtccc c.-181
. . . . . . g.5122
gagtgccaaagctggggttctacttgagatttccctcgtggtgccagggtccggcgagca c.-121
. . . . . | 02. g.7022
tcacgccgaggcccattttccagacgaccacgacgaggccggggtcac | gaactctggcgc c.-61
. . . . . . g.7082
cccttaccagcttccagtctctcgaggtggccagtgtggtgcttggtccttgtttccagg c.-1
. . . . . . g.7142
ATGGACTTCCCCAGCTCCCTCCGCCCTGCATTGTTTCTGACCGGCCCCCTTGGTCTGAGC c.60
M D F P S S L R P A L F L T G P L G L S p.20
. . . . . . g.7202
GACGTCCCTGACCTCTCTTTCATGTGCAGCTGGCGAGACGCACTGACTCTGCCAGAGGCC c.120
D V P D L S F M C S W R D A L T L P E A p.40
. | 03 . . . . g.8334
CAGCCCCAGAACTCAGAG | AATGGGGCACTGCATGTGACCAAGGACCTGCTGTGGGAGCCG c.180
Q P Q N S E | N G A L H V T K D L L W E P p.60
. . . . | 04 . . g.8583
GCAACCCCTGGGCCTCTCCCCATGCTGCCTCCCCTCATCG | ATCCCTGGGACCCTGGCCTG c.240
A T P G P L P M L P P L I D | P W D P G L p.80
. . . . . . g.8643
ACTGCCCGGGACCTGCTTTTCCGCGGAGGGTGCCGGTATCGGAAGCGGCCCCGAGTCGTG c.300
T A R D L L F R G G C R Y R K R P R V V p.100
. | 05 . . . . g.8779
CTGGATGTGACTGAGCAG | ATCAGCCGGTTCCTCTTGGATCATGGAGACGTAGCCTTTGCG c.360
L D V T E Q | I S R F L L D H G D V A F A p.120
. . . . | 06 . g.8933
CCCCTGGGGAAGCTGATGCTGGAGAATTTCAAGCTGGAGGGAGCGGGG | AGCCGCACTAAG c.420
P L G K L M L E N F K L E G A G | S R T K p.140
. . . . . . g.8993
AAGAAGACAGTGGTCAGTGTGAAGAAGCTGCTCCAGGACCTCGGTGGACACCAGCCCTGG c.480
K K T V V S V K K L L Q D L G G H Q P W p.160
| 07 . . . . . . g.9688
GG | GTGTCCCTGGGCTTACCTCAGCAACCGACAGCGCCGCTTCTCTATCCTCGGGGGCCCC c.540
G | C P W A Y L S N R Q R R F S I L G G P p.180
. . . . . . g.9748
ATCCTGGGCACGTCGGTGGCGAGCCACTTGGCAGAGCTGCTGCACGAGGAGCTGGTGCTG c.600
I L G T S V A S H L A E L L H E E L V L p.200
. . . . . . g.9808
CGGTGGGAGCAGCTGCTTCTGGATGAGGCCTGCACTGGGGGCGCGCTGGCCTGGGTTCCT c.660
R W E Q L L L D E A C T G G A L A W V P p.220
. . . . . . g.9868
GGAAGGACACCCCAGTTCGGGCAGCTGGTCTACCCTGCTGGAGGCGCCCAGGACAGGCTG c.720
G R T P Q F G Q L V Y P A G G A Q D R L p.240
| 08 . . . . . . g.10071
C | ATTTCCAAGAGGTCGTTCTGACCCCAGGTGACAATCCCCAATTCCTTGGGAAACCTGGA c.780
H | F Q E V V L T P G D N P Q F L G K P G p.260
. . . . . . g.10131
CGCATCCAGCTCCAGGGACCTGTCCGGCAAGTGGTGACATGCACCGTCCAGGGAGAAAGT c.840
R I Q L Q G P V R Q V V T C T V Q G E S p.280
. . . . . . g.10191
AAGGCCCTTATATACACTTTCCTCCCTCACTGGCTGACCTGCTACCTGACCCCTGGCCCT c.900
K A L I Y T F L P H W L T C Y L T P G P p.300
. . . . . . g.10251
TTCCATCCCTCCTCAGCTCTGCTGGCCGTCCGCTCTGACTACCACTGTGCCGTGTGGAAG c.960
F H P S S A L L A V R S D Y H C A V W K p.320
. . . . . . g.10311
TTTGGTAAACAGTGGCAGCCAACCCTTCTGCAGGCAATGCAGGTGGAGAAAGGGGCCACG c.1020
F G K Q W Q P T L L Q A M Q V E K G A T p.340
. | 09 . . . . . g.10453
GGGATCAGCCTCAG | CCCTCACCTGCCCGGGGAGCTGGCCATCTGCAGCCGCTCGGGAGCC c.1080
G I S L S | P H L P G E L A I C S R S G A p.360
. . | 10 . . . . g.10641
GTCTGCCTGTGGAGCCCTGAGGATGG | GCTGCGGCAAATCTACAGGGACCCTGAGACCCTC c.1140
V C L W S P E D G | L R Q I Y R D P E T L p.380
. . . . . . g.10701
GTGTTCCGGGACTCCTCTTCGTGGCGTTGGGCAGACTTCACTGCGCACCCTCGGGTGCTG c.1200
V F R D S S S W R W A D F T A H P R V L p.400
. . . . | 11 . . g.10902
ACCGTGGGTGACCGCACCGGAGTGAAGATGCTGGACACTCAG | GGCCCGCCGGGCTGTGGT c.1260
T V G D R T G V K M L D T Q | G P P G C G p.420
. . . . . . g.10962
CTGTTGCTTTTTCGTTTGGGGGCAGAGGCTTCGTGCCAGAAAGGGGAACGTGTCCTGCTT c.1320
L L L F R L G A E A S C Q K G E R V L L p.440
. . . . . . g.11022
ACCCAGTACCTGGGGCACTCCAGCCCCAAATGCCTCCCCCCTACTCTTCATCTCGTCTGT c.1380
T Q Y L G H S S P K C L P P T L H L V C p.460
| 12 . . . . . . g.11780
ACCCAG | TTCTCTCTCTACCTAGTGGACGAGCGCCTTCCCCTGGTGCCGATGCTGAAGTGG c.1440
T Q | F S L Y L V D E R L P L V P M L K W p.480
. . . . . . g.11840
AACCATGGCCTCCCCTCCCCGCTCCTGCTGGCCCGACTGCTGCCTCCGCCCCGGCCCAGC c.1500
N H G L P S P L L L A R L L P P P R P S p.500
. . . . . . g.11900
TGCGTGCAGCCCCTGCTCCTCGGAGGCCAGGGTGGGCAGCTGCAGCTGCTGCACCTGGCA c.1560
C V Q P L L L G G Q G G Q L Q L L H L A p.520
| 13 . . . . . . g.12046
G | GAGAAGGGGCGTCGGTGCCCCGCCTGGCAGGCCCCCCCCAGTCTCTTCCTTCCAGGATC c.1620
G | E G A S V P R L A G P P Q S L P S R I p.540
. . . . . . g.12106
GACTCCCTCCCTGCATTTCCTCTGCTGGAGCCTAAGATCCAGTGGCGGCTGCAGGAGCGC c.1680
D S L P A F P L L E P K I Q W R L Q E R p.560
. | 14 . . . . g.12260
CTGAAAGCACCGACCATAG | GTCTGGCTGCCGTCGTCCCGCCCTTGCCCTCAGCGCCCACA c.1740
L K A P T I G | L A A V V P P L P S A P T p.580
. . . . . . g.12320
CCAGGCCTGGTGCTCTTCCAGCTCTCGGCGGCGGGAGATGTCTTCTACCAGCAGCTCCGC c.1800
P G L V L F Q L S A A G D V F Y Q Q L R p.600
. . . . . . g.12380
CCCCAGGTGGACTCCAGCCTCCGCAGAGATGCTGGGCCTCCTGGCGACACCCAACCTGAC c.1860
P Q V D S S L R R D A G P P G D T Q P D p.620
. . . . . . g.12440
TGCCATGCCCCCACAGCTTCCTGGACCTCCCAGGACACTGCCGGCTGCAGCCAGTGGCTG c.1920
C H A P T A S W T S Q D T A G C S Q W L p.640
. . . . . . g.12500
AAGGCCCTGCTAAAAGTGCCCCTGGCTCCTCCTGTGTGGACAGCACCCACCTTCACCCAC c.1980
K A L L K V P L A P P V W T A P T F T H p.660
. . . . . . g.12560
CGCCAGATGCTGGGCAGCACAGAGCTGCGGAGGGAGGAAGAGGAAGGGCAGCGGCTGGGT c.2040
R Q M L G S T E L R R E E E E G Q R L G p.680
. . . . . . g.12620
GTGCTCCGCAAGGCCATGGCCCGAGGGCAGCTCCTGCTGCAGAGAGACCTGGGCTCCCTC c.2100
V L R K A M A R G Q L L L Q R D L G S L p.700
. . . . . . g.12680
CCTGCGGCAGAGCCACCCCCTGCACCCGAGTCAGGCCTAGAGGACAAGCTCAGTGAGCGC c.2160
P A A E P P P A P E S G L E D K L S E R p.720
. . . . . . g.12740
CTGGGGGAAGCCTGGGCAGGCCGAGGGGCTGCCTGGTGGGAGAGGCAGCAGGGCAGGACC c.2220
L G E A W A G R G A A W W E R Q Q G R T p.740
. . . . . . g.12800
TCGGAGCCCGGGAGACAGACCAGGCGGCCCAAGCGCCGGACCCAGCTGTCCAGCAGCTTT c.2280
S E P G R Q T R R P K R R T Q L S S S F p.760
. . . . . . g.12860
TCGCTCAGTGGCCATGTGGATCCCTCAGAGGACACCAGCTCCCCTCATAGCCCTGAGTGG c.2340
S L S G H V D P S E D T S S P H S P E W p.780
. . . . . . g.12920
CCACCTGCTGATGCTCTGCCCCTGCCCCCCACGACCCCGCCCTCCCAGGAGTTGACTCCG c.2400
P P A D A L P L P P T T P P S Q E L T P p.800
. . . . . . g.12980
GATGCATGCGCCCAGGGCGTCCCATCAGAGCAGCGGCAGATGCTCCGTGACTACATGGCC c.2460
D A C A Q G V P S E Q R Q M L R D Y M A p.820
. . . . . . g.13040
AAGCTACCACCCCAGAGGGACACCCCAGGCTGTGCCACCACACCTCCCCACTCCCAGGCC c.2520
K L P P Q R D T P G C A T T P P H S Q A p.840
. . . . . . g.13100
TCCAGCGTCCGGGCCACTCGCTCCCAGCAGCACACACCCGTCCTCTCTAGCTCTCAGCCC c.2580
S S V R A T R S Q Q H T P V L S S S Q P p.860
. . . g.13130
CTCCGGAAGAAGCCTCGAATGGGCTTCTGA c.2610
L R K K P R M G F X p.869
. . . . . . g.13190
ggacacaaggtgggctgccctcaagccccagagagcccctcatccttcctctgggaccag c.*60
. . . . . . g.13250
atgtgccttccacagttgaaacttgagaagcagagctcgccaccttctggaggccactgt c.*120
. . . . . . g.13310
gatgatgagccaagcaatttggagccaagttgaagggacagggcaacaaaatacagtagt c.*180
. . . . . . g.13370
agtttcttttgtattttgtatattcgcctgaagatcatcccgcaaggcaggctggaggtg c.*240
. . . . . . g.13430
ccggtgggcctgtgttgctgggattttagtctgtgctgggaggcagggctccgctgcgcc c.*300
. . . . . . g.13490
tcagctgtgggggcctcaggcaggtccctcagttctcacgccttcctgtccagtggaatg c.*360
. . . . . . g.13550
ggggccaggagtgctggctcctcgtgtttggtgagggtggagtgaggcccctgcagagct c.*420
. . . . . . g.13610
gctgatgaggtgggcacagcggccgttggcagctgctgttgtgggttgctttgtcaatct c.*480
. . . . . . g.13670
ctgccccggtctgatgtttcctacagggagatgccttggatccaggttcagggactaaat c.*540
. . . . . . g.13730
acacttggcagctgaagatgaattggaatggtcacgttttttaggctggacagcgtcccg c.*600
. . . . . . g.13790
ccacagctactacctgacactgagctcatgcagagagatgatggctgatgttccttctcc c.*660
. . . . . . g.13850
cttgggacatgggtctggcacctgtgggctgtcgatagtgccctctgagcagagggtcac c.*720
. . . . . . g.13910
ggtcatgtcagtttgggggaattctctgttgtgcctcacagactcccccctttctttcct c.*780
. . . . . . g.13970
ccctccccttctcattttgatgtctaaagcatcaagtccctcttcctcggagtttctcta c.*840
. . . . . . g.14030
gctgcagtggaagattctgttttcctgtggggaaaatgctcacttgagattttgcaggga c.*900
. . . . . . g.14090
cccgggtctgtctggtttctgatgacatagtaagagaaaggtcttttttcaggttggctg c.*960
. . . . . . g.14150
gtgaaaggaattgcatgtgactcacacaaacaggagctagcccaatcatacactgactcg c.*1020
. . . . . . g.14210
cgtgggtgttaaaatgtttatcatgcctaagggagacatttatgattaaaccatttatgc c.*1080
. g.14224
tacatataactggg c.*1094
(downstream sequence)
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