(used for variant description)
(last modified February 20, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_003399.5 in the XPNPEP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering XPNPEP2 transcript NM_003399.5.
(upstream sequence)
g.5004
ggaa c.-241
. . . . . . g.5064
cttgcacagtccgcctcgggcagcccaaagctcctctgcccaccctggctcccagagccc c.-181
. . . . . . g.5124
tccaaaacaaaagaccagagaagcactctccacccagcagccagacgcctccttcttgac c.-121
. . . . . . g.5184
gccagcccccaccctctgtctgctcgagcccaggaaaggcctgaaggaagaggccgggga c.-61
. . . . . . g.5244
aagagccctccctctctcccttgtccctccatccacccagcgccggcatctggagaccct c.-1
. . . . | 02 . g.8149
ATGGCCCGGGCTCACTGGGGCTGCTGCCCCTGGCTGGTCCTCCTCTGTG | CTTGTGCCTGG c.60
M A R A H W G C C P W L V L L C A | C A W p.20
. . . . . . g.8209
GGCCACACAAAGCCAGTGGACCTTGGAGGGCAGGATGTGAGAAACTGTTCCACCAACCCC c.120
G H T K P V D L G G Q D V R N C S T N P p.40
| 03 . . . . . . g.10048
CCT | TACCTTCCAGTTACTGTGGTCAATACCACAATGTCACTCACAGCCCTCCGCCAGCAG c.180
P | Y L P V T V V N T T M S L T A L R Q Q p.60
. . . . . | 04 . g.11239
ATGCAGACCCAGAATCTCTCAGCCTACATCATCCCAGGCACAGATGCTCACATG | AACGAG c.240
M Q T Q N L S A Y I I P G T D A H M | N E p.80
. . . . . | 05 g.12268
TACATCGGCCAACATGACGAGAGGCGTGCGTGGATTACAGGCTTTACAGGGTCTGCAG | GA c.300
Y I G Q H D E R R A W I T G F T G S A G | p.100
. . . . . . g.12328
ACTGCAGTGGTGACTATGAAGAAAGCAGCTGTCTGGACCGACAGTCGCTACTGGACTCAG c.360
T A V V T M K K A A V W T D S R Y W T Q p.120
. . . . | 06 . . g.12642
GCTGAGCGGCAGATGGACTGCAACTGGGAGCTCCATAAGGAAG | TTGGCACCACTCCTATT c.420
A E R Q M D C N W E L H K E V | G T T P I p.140
. . . . . . g.12702
GTCACCTGGCTCCTCACCGAGATTCCTGCTGGAGGGCGTGTGGGTTTTGACCCCTTCCTC c.480
V T W L L T E I P A G G R V G F D P F L p.160
. | 07 . . . . . g.13687
TTGTCCATTG | ACACCTGGGAGAGTTATGATCTGGCCCTCCAAGGCTCTAACAGACAGCTG c.540
L S I D | T W E S Y D L A L Q G S N R Q L p.180
. . . . . . g.13747
GTGTCCATCACAACCAATCTTGTGGACCTGGTATGGGGATCAGAGAGGCCACCGGTTCCA c.600
V S I T T N L V D L V W G S E R P P V P p.200
. . . | 08. . . g.16521
AATCAACCCATTTATGCCCTGCAGGAGGCATTCACAG | GGAGCACTTGGCAGGAGAAAGTA c.660
N Q P I Y A L Q E A F T G | S T W Q E K V p.220
. . . . . . g.16581
TCTGGCGTCCGAAGCCAGATGCAGAAGCATCAAAAGGTCCCGACTGCCGTCCTTCTGTCG c.720
S G V R S Q M Q K H Q K V P T A V L L S p.240
. | 09 . . . . g.17816
GCGCTTGAGGAGACGGCCT | GGCTCTTCAACCTTCGAGCCAGTGACATCCCCTATAACCCC c.780
A L E E T A W | L F N L R A S D I P Y N P p.260
. . . . | 10 . . g.18199
TTCTTCTATTCCTACACGCTGCTCACAGACTCTTCTATTAG | GTTGTTTGCAAACAAGAGT c.840
F F Y S Y T L L T D S S I R | L F A N K S p.280
. . . . . . g.18259
CGCTTTAGCTCCGAAACCTTGAGCTATCTGAACTCCAGTTGCACAGGCCCCATGTGTGTG c.900
R F S S E T L S Y L N S S C T G P M C V p.300
. . . . . . g.18319
CAAATCGAGGATTACAGCCAAGTTCGTGACAGCATCCAGGCCTACTCATTGGGAGATGTG c.960
Q I E D Y S Q V R D S I Q A Y S L G D V p.320
. . . . . | 11. g.19192
AGGATCTGGATTGGGACCAGCTATACCATGTATGGGATCTATGAAATGATACCCAAG | GAG c.1020
R I W I G T S Y T M Y G I Y E M I P K | E p.340
. . . . . . g.19252
AAACTCGTGACAGACACCTACTCCCCAGTGATGATGACCAAGGCAGTGAAGAACAGCAAG c.1080
K L V T D T Y S P V M M T K A V K N S K p.360
. . | 12. . . . g.20535
GAGCAGGCCCTCCTCAAGGCCAGCCAC | GTGCGGGACGCTGTGGCTGTGATCCGGTACTTG c.1140
E Q A L L K A S H | V R D A V A V I R Y L p.380
. . . . . . g.20595
GTCTGGCTGGAGAAGAACGTGCCCAAAGGCACAGTGGATGAGTTCTCGGGGGCAGAGATC c.1200
V W L E K N V P K G T V D E F S G A E I p.400
. | 13. . . . . g.21367
GTGGACAAGTTCCGAGG | AGAAGAACAGTTCTCCTCCGGACCCAGTTTTGAAACCATCTCT c.1260
V D K F R G | E E Q F S S G P S F E T I S p.420
. . . | 14 . . . g.22539
GCTAGTGGTCTGAATGCTGCCCTGGCCCACTACAG | CCCGACCAAGGAGCTGAACCGCAAG c.1320
A S G L N A A L A H Y S | P T K E L N R K p.440
. . . . | 15. . g.25223
CTGTCCTCAGATGAGATGTACCTGCTGGACTCTGGGGGGCAGTACTG | GGACGGGACCACA c.1380
L S S D E M Y L L D S G G Q Y W | D G T T p.460
. . . . | 16 . g.26554
GACATCACCAGAACAGTCCACTGGGGCACCCCCTCTGCCTTCCAGAAG | GAGGCATACACC c.1440
D I T R T V H W G T P S A F Q K | E A Y T p.480
. . . . . | 17 g.27204
CGTGTGCTGATAGGAAATATTGACCTGTCCAGGCTCATCTTTCCCGCTGCTACATCAG | GG c.1500
R V L I G N I D L S R L I F P A A T S G | p.500
. . . . . . g.27264
CGAATGGTGGAGGCCTTTGCCCGCAGAGCCTTGTGGGATGCTGGTCTCAATTATGGTCAT c.1560
R M V E A F A R R A L W D A G L N Y G H p.520
. . . . | 18 . . g.28053
GGGACAGGCCACGGCATTGGCAACTTCCTGTGTGTGCATGAGT | GGCCAGTGGGATTCCAG c.1620
G T G H G I G N F L C V H E W | P V G F Q p.540
. . . . | 19 . . g.28741
TCCAACAACATCGCTATGGCCAAGGGCATGTTCACTTCCATTG | AACCTGGTTACTATAAG c.1680
S N N I A M A K G M F T S I E | P G Y Y K p.560
. . . . . . g.28801
GATGGAGAATTTGGGATCCGTCTCGAAGATGTGGCTCTCGTGGTAGAAGCAAAGACCAAG c.1740
D G E F G I R L E D V A L V V E A K T K p.580
| 20 . . . . . . g.33693
| TACCCAGGGAGCTACCTGACCTTTGAAGTGGTATCATTTGTGCCCTATGACCGGAACCTC c.1800
| Y P G S Y L T F E V V S F V P Y D R N L p.600
. . . | 21 . . . g.34351
ATCGATGTCAGCCTGCTGTCTCCCGAGCAT | CTCCAGTACCTGAATCGCTACTACCAGACC c.1860
I D V S L L S P E H | L Q Y L N R Y Y Q T p.620
. . . . . . g.34411
ATCCGGGAGAAGGTGGGTCCAGAGCTGCAGAGGCGCCAGCTACTAGAGGAGTTCGAGTGG c.1920
I R E K V G P E L Q R R Q L L E E F E W p.640
. . . . . . g.34471
CTTCAACAGCACACAGAGCCCCTGGCCGCCAGGGCCCCAGACACCGCCTCCTGGGCCTCT c.1980
L Q Q H T E P L A A R A P D T A S W A S p.660
. . . . g.34516
GTGTTAGTGGTCTCCACCCTTGCCATCCTTGGCTGGAGTGTCTAG c.2025
V L V V S T L A I L G W S V X p.674
. . . . . . g.34576
aggctccagactctcctgttaaccctccatctagatggggggctcccttgcttagctccc c.*60
. . . . . . g.34636
ctcaccctgcactgaacataccccaagagcccctgctggcccattgcctagaaacctttg c.*120
. . . . . . g.34696
cattcatcctccttctccaagacctatggagaaggtcccaggccccaggaacacagggct c.*180
. . . . . . g.34756
tcttggccccagatggcacctccctgcaccccggggttgtataccacaccctgggcccct c.*240
. . . . . . g.34816
aatcccaggccccgagataggaaagccagctagtctcttctcttctgtgatctcagtagg c.*300
. . . . . . g.34876
cctaacctataacctagcacagactgctacagctgctcccctcccgccaaacaaaacccc c.*360
. . . . . . g.34936
aagagagcaatgcccctaccacccaagggtgccatggtcccgggagagcccaaacctatc c.*420
. . . . . . g.34996
accacctgttgggcatagccagagctgttcccacccagccagggcatgaaacatcaaccc c.*480
. . . . . . g.35056
cccacatgtgaacccatcattcctaaaccctgggtaggctccatgccaagtaacagcaga c.*540
. . . . . . g.35116
gggagttaagccataggaatttggctgtggagtaagagggaatgcggtgaggcactctgg c.*600
. . . . . . g.35176
aatatgaccctaccagaggttggagaacaaacttgggcagccggaacccgtcactattct c.*660
. . . . . . g.35236
agacttccctggcattcgaggagccctttgaactttccaaagtgcagccacagctacaat c.*720
. . . . . . g.35296
gctgttaaatcctcccacattcttggatgccccttcaccttgtgtggacagtgtctggtt c.*780
. . . . . . g.35356
tctccattttacagacaggaaaactgagcttcagacagggggtgggctttgcctaaggac c.*840
. . . . . . g.35416
acacaaatttggttgggagttgatggggccagatgagccagcattccagctctttcaccc c.*900
. . . . . . g.35476
ttcagcaacatgcagagtccctgagcccacctcccagccctctcctcattctctgaaccc c.*960
. . . . . . g.35536
actgtggtgagaagaatttgctccggccaaattggccgttagccacctgggtccacatcc c.*1020
. . . . g.35580
tgctaagacgtttaaaacagcctaacaaagacacttgcctctgg c.*1064
(downstream sequence)
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