(used for variant description)
(last modified August 31, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_004628.4 in the XPC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering XPC transcript NM_004628.4.
(upstream sequence)
. . . . g.5044
cgaaggggcgtggccaagcgcaccgcctcggggcggggccggcg c.-61
. . . . . . g.5104
ttctagcgcatcgcggccgggtgcgtcactcgcgaagtggaatttgcccagacaagcaac c.-1
. . . . . . g.5164
ATGGCTCGGAAACGCGCGGCCGGCGGGGAGCCGCGGGGACGCGAACTGCGCAGCCAGAAA c.60
M A R K R A A G G E P R G R E L R S Q K p.20
. . . . | 02 . . g.10627
TCCAAGGCCAAGAGCAAGGCCCGGCGTGAGGAGGAGGAGGAGG | ATGCCTTTGAAGATGAG c.120
S K A K S K A R R E E E E E D | A F E D E p.40
. . . . . . g.10687
AAACCCCCAAAGAAGAGCCTTCTCTCCAAAGTTTCACAAGGAAAGAGGAAAAGAGGCTGC c.180
K P P K K S L L S K V S Q G K R K R G C p.60
. . . . . . g.10747
AGTCATCCTGGGGGTTCAGCAGATGGTCCAGCAAAAAAGAAAGTGGCCAAGGTGACTGTT c.240
S H P G G S A D G P A K K K V A K V T V p.80
. . . . . | 03 g.13123
AAATCTGAAAACCTCAAGGTTATAAAGGATGAAGCCCTCAGCGATGGGGATGACCTCAG | G c.300
K S E N L K V I K D E A L S D G D D L R | p.100
. . . . . . g.13183
GACTTTCCAAGTGACCTCAAGAAGGCACACCATCTGAAGAGAGGGGCTACCATGAATGAA c.360
D F P S D L K K A H H L K R G A T M N E p.120
. . . . . | 04 . g.15300
GACAGCAATGAAGAAGAGGAAGAAAGTGAAAATGATTGGGAAGAGGTTGAAG | AACTTAGT c.420
D S N E E E E E S E N D W E E V E E | L S p.140
. . . . . . g.15360
GAGCCTGTGCTGGGTGACGTGAGAGAAAGTACAGCCTTCTCTCGATCTCTTCTGCCTGTG c.480
E P V L G D V R E S T A F S R S L L P V p.160
. . . . . | 05 . g.16423
AAGCCAGTGGAGATAGAGATTGAAACGCCAGAGCAGGCGAAGACAAGAGAAAGAAG | TGAA c.540
K P V E I E I E T P E Q A K T R E R S | E p.180
. . . . . . g.16483
AAGATAAAACTGGAGTTTGAGACATATCTTCGGAGGGCGATGAAACGTTTCAATAAAGGG c.600
K I K L E F E T Y L R R A M K R F N K G p.200
. . | 06 . . . . g.18126
GTCCATGAGGACACACACAAG | GTTCACCTTCTCTGCCTGCTAGCAAATGGCTTCTATCGA c.660
V H E D T H K | V H L L C L L A N G F Y R p.220
. . . . . . g.18186
AATAACATCTGCAGCCAGCCAGATCTGCATGCTATTGGCCTGTCCATCATCCCAGCCCGC c.720
N N I C S Q P D L H A I G L S I I P A R p.240
. . . . . | 07 g.18740
TTTACCAGAGTGCTGCCTCGAGATGTGGACACCTACTACCTCTCAAACCTGGTGAAGTG | G c.780
F T R V L P R D V D T Y Y L S N L V K W | p.260
. . . . . . g.18800
TTCATTGGAACATTTACAGTTAATGCAGAACTTTCAGCCAGTGAACAAGATAACCTGCAG c.840
F I G T F T V N A E L S A S E Q D N L Q p.280
. . . . . . g.18860
ACTACATTGGAAAGGAGATTTGCTATTTACTCTGCTCGAGATGATGAGGAATTGGTCCAT c.900
T T L E R R F A I Y S A R D D E E L V H p.300
| 08 . . . . . . g.23902
| ATATTCTTACTGATTCTCCGGGCTCTGCAGCTCTTGACCCGGCTGGTATTGTCTCTACAG c.960
| I F L L I L R A L Q L L T R L V L S L Q p.320
. . . | 09 . . . g.24810
CCAATTCCTCTGAAGTCAGCAACAGCAAAG | GGAAAGAAACCTTCCAAGGAAAGATTGACT c.1020
P I P L K S A T A K | G K K P S K E R L T p.340
. . . . . . g.24870
GCGGATCCAGGAGGCTCCTCAGAAACTTCCAGCCAAGTTCTAGAAAACCACACCAAACCA c.1080
A D P G G S S E T S S Q V L E N H T K P p.360
. . . . . . g.24930
AAGACCAGCAAAGGAACCAAACAAGAGGAAACCTTTGCTAAGGGCACCTGCAGGCCAAGT c.1140
K T S K G T K Q E E T F A K G T C R P S p.380
. . . . . . g.24990
GCCAAAGGGAAGAGGAACAAGGGAGGCAGAAAGAAACGGAGCAAGCCCTCCTCCAGCGAG c.1200
A K G K R N K G G R K K R S K P S S S E p.400
. . . . . . g.25050
GAAGATGAGGGCCCAGGAGACAAGCAGGAGAAGGCAACCCAGCGACGTCCGCATGGCCGG c.1260
E D E G P G D K Q E K A T Q R R P H G R p.420
. . . . . . g.25110
GAGCGGCGGGTGGCCTCCAGGGTGTCTTATAAAGAGGAGAGTGGGAGTGATGAGGCTGGC c.1320
E R R V A S R V S Y K E E S G S D E A G p.440
. . . . . . g.25170
AGCGGCTCTGATTTTGAGCTCTCCAGTGGAGAAGCCTCTGATCCCTCTGATGAGGATTCC c.1380
S G S D F E L S S G E A S D P S D E D S p.460
. . . . . . g.25230
GAACCTGGCCCTCCAAAGCAGAGGAAAGCCCCCGCTCCTCAGAGGACAAAGGCTGGGTCC c.1440
E P G P P K Q R K A P A P Q R T K A G S p.480
. . . . . . g.25290
AAGAGTGCCTCCAGGACCCATCGTGGGAGCCATCGTAAGGACCCAAGCTTGCCAGCGGCA c.1500
K S A S R T H R G S H R K D P S L P A A p.500
. . . . . . g.25350
TCCTCAAGCTCTTCAAGCAGTAAAAGAGGCAAGAAAATGTGCAGCGATGGTGAGAAGGCA c.1560
S S S S S S S K R G K K M C S D G E K A p.520
. . . . . . g.25410
GAAAAAAGAAGCATAGCTGGTATAGACCAGTGGCTAGAGGTGTTCTGTGAGCAGGAGGAA c.1620
E K R S I A G I D Q W L E V F C E Q E E p.540
. . . . . . g.25470
AAGTGGGTATGTGTAGACTGTGTGCACGGTGTGGTGGGCCAGCCTCTGACCTGTTACAAG c.1680
K W V C V D C V H G V V G Q P L T C Y K p.560
. . . . . . g.25530
TACGCCACCAAGCCCATGACCTATGTGGTGGGCATTGACAGTGACGGCTGGGTCCGAGAT c.1740
Y A T K P M T Y V V G I D S D G W V R D p.580
. . . . . . g.25590
GTCACACAGAGGTACGACCCAGTCTGGATGACAGTGACCCGCAAGTGCCGGGTTGATGCT c.1800
V T Q R Y D P V W M T V T R K C R V D A p.600
. . . . . . g.25650
GAGTGGTGGGCCGAGACCTTGAGACCATACCAGAGCCCATTTATGGACAGGGAGAAGAAA c.1860
E W W A E T L R P Y Q S P F M D R E K K p.620
. | 10 . . . . . g.27225
GAAGACTTGGAG | TTTCAGGCTAAACACATGGACCAGCCTTTGCCCACTGCCATTGGCTTA c.1920
E D L E | F Q A K H M D Q P L P T A I G L p.640
. . . . . . g.27285
TATAAGAACCACCCTCTGTATGCCCTGAAGCGGCATCTCCTGAAATATGAGGCCATCTAT c.1980
Y K N H P L Y A L K R H L L K Y E A I Y p.660
. . . . . | 11 . g.31263
CCCGAGACAGCTGCCATCCTTGGGTATTGTCGTGGAGAAGCGGTCTACTCCAG | GGATTGT c.2040
P E T A A I L G Y C R G E A V Y S R | D C p.680
. . . . . . g.31323
GTGCACACTCTGCATTCCAGGGACACGTGGCTGAAGAAAGCAAGAGTGGTGAGGCTTGGA c.2100
V H T L H S R D T W L K K A R V V R L G p.700
. | 12 . . . . . g.34769
GAAGTACCCTACAAG | ATGGTGAAAGGCTTTTCTAACCGTGCTCGGAAAGCCCGACTTGCT c.2160
E V P Y K | M V K G F S N R A R K A R L A p.720
. . . . . . g.34829
GAGCCCCAGCTGCGGGAAGAAAATGACCTGGGCCTGTTTGGCTACTGGCAGACAGAGGAG c.2220
E P Q L R E E N D L G L F G Y W Q T E E p.740
. . . | 13 . . . g.34971
TATCAGCCCCCAGTGGCCGTGGACGGGAAG | GTGCCCCGGAACGAGTTTGGGAATGTGTAC c.2280
Y Q P P V A V D G K | V P R N E F G N V Y p.760
. . . . . . g.35031
CTCTTCCTGCCCAGCATGATGCCTATTGGCTGTGTCCAGCTGAACCTGCCCAATCTACAC c.2340
L F L P S M M P I G C V Q L N L P N L H p.780
. . . . . . g.35091
CGCGTGGCCCGCAAGCTGGACATCGACTGTGTCCAGGCCATCACTGGCTTTGATTTCCAT c.2400
R V A R K L D I D C V Q A I T G F D F H p.800
. . | 14 . . . . g.35711
GGCGGCTACTCCCATCCCGT | GACTGATGGATACATCGTCTGCGAGGAATTCAAAGACGTG c.2460
G G Y S H P V | T D G Y I V C E E F K D V p.820
. . . . . | 15 . g.36299
CTCCTGACTGCCTGGGAAAATGAGCAGGCAGTCATTGAAAGGAAGGAGAAGGAG | AAAAAG c.2520
L L T A W E N E Q A V I E R K E K E | K K p.840
. . . . . . g.36359
GAGAAGCGGGCTCTAGGGAACTGGAAGTTGCTGGCCAAAGGTCTGCTCATCAGGGAGAGG c.2580
E K R A L G N W K L L A K G L L I R E R p.860
. . | 16 . . . . g.37549
CTGAAGCGTCGCTACGGGCCCAAG | AGTGAGGCAGCAGCTCCCCACACAGATGCAGGAGGT c.2640
L K R R Y G P K | S E A A A P H T D A G G p.880
. . . . . . g.37609
GGACTCTCTTCTGATGAAGAGGAGGGGACCAGCTCTCAAGCAGAAGCGGCCAGGATACTG c.2700
G L S S D E E E G T S S Q A E A A R I L p.900
. . . . . . g.37669
GCTGCCTCCTGGCCTCAAAACCGAGAAGATGAAGAAAAGCAGAAGCTGAAGGGTGGGCCC c.2760
A A S W P Q N R E D E E K Q K L K G G P p.920
. . . . . . g.37729
AAGAAGACCAAAAGGGAAAAGAAAGCAGCAGCTTCCCACCTGTTCCCATTTGAGCAGCTG c.2820
K K T K R E K K A A A S H L F P F E Q L p.940
g.37732
TGA c.2823
X p.940
. . . . . . g.37792
gctgagcgcccactagaggggcacccaccagttgctgctgccccactacaggccccacac c.*60
. . . . . . g.37852
ctgccctgggcatgcccagcccctggtggtgggggcttctctgctgagaaggcaaactga c.*120
. . . . . . g.37912
ggcagcatgcacggaggcggggtcaggggagacgaggccaagctgaggaggtgctgcagg c.*180
. . . . . . g.37972
tcccgtctggctccagcccttgtcagattcacccagggtgaagccttcaaagctttttgc c.*240
. . . . . . g.38032
taccaaagcccactcaccctttgagctacagaacactttgctaggagatactcttctgcc c.*300
. . . . . . g.38092
tcctagacctgttctttccatctttagaaacatcagtttttgtatggaagccaccgggag c.*360
. . . . . . g.38152
atttctggatggtggtgcatccgtgaatgcgctgatcgtttcttccagttagagtcttca c.*420
. . . . . . g.38212
tctgtccgacaagttcactcgcctcggttgcggacctaggaccatttctctgcaggccac c.*480
. . . . . . g.38272
ttaccttcccctgagtcaggcttactaatgctgccctcactgcctctttgcagtagggga c.*540
. . . . . . g.38332
gagagcagagaagtacaggtcatctgctgggatctagttttccaagtaacattttgtggt c.*600
. . . . . . g.38392
gacagaagcctaaaaaaagctaaaatcaggaaagaaaaggaaaaatacgaattgaaaatt c.*660
. . . . . . g.38452
aaggaaatgttagtaaaatagatgagtgttaaactagattgtattcattactagataaaa c.*720
. . . . . . g.38512
tgtataaagctctctgtactaaggagaaatgacttttataacattttgagaaaataataa c.*780
. g.38526
agcatttatctaaa c.*794
(downstream sequence)
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