(used for variant description)
(last modified July 27, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_002827.3 in the PTPN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering PTPN1 transcript NM_002827.3.
(upstream sequence)
. . g.4994
ccttctgcttcaggggcggagcccctg c.-181
. . . . . . g.5054
gcaggcgtgatgcgtagttccggctgccggttgacatgaagaagcagcagcggctagggc c.-121
. . . . . . g.5114
ggcggtagctgcaggggtcggggattgcagcgggcctcggggctaagagcgcgacgcggc c.-61
. . . . . . g.5174
ctagagcggcagacggcgcagtgggccgagaaggaggcgcagcagccgccctggcccgtc c.-1
. . . . . . g.5234
ATGGAGATGGAAAAGGAGTTCGAGCAGATCGACAAGTCCGGGAGCTGGGCGGCCATTTAC c.60
M E M E K E F E Q I D K S G S W A A I Y p.20
| 02 . . . . . . g.56066
CAG | GATATCCGACATGAAGCCAGTGACTTCCCATGTAGAGTGGCCAAGCTTCCTAAGAAC c.120
Q | D I R H E A S D F P C R V A K L P K N p.40
. . . | 03 . . . g.59641
AAAAACCGAAATAGGTACAGAGACGTCAGTCCCT | TTGACCATAGTCGGATTAAACTACAT c.180
K N R N R Y R D V S P F | D H S R I K L H p.60
. . . . . . g.59701
CAAGAAGATAATGACTATATCAACGCTAGTTTGATAAAAATGGAAGAAGCCCAAAGGAGT c.240
Q E D N D Y I N A S L I K M E E A Q R S p.80
. | 04 . . . . . g.63071
TACATTCTTACCCAG | GGCCCTTTGCCTAACACATGCGGTCACTTTTGGGAGATGGTGTGG c.300
Y I L T Q | G P L P N T C G H F W E M V W p.100
. . . . . | 05 . g.69169
GAGCAGAAAAGCAGGGGTGTCGTCATGCTCAACAGAGTGATGGAGAAAGGTTCG | TTAAAA c.360
E Q K S R G V V M L N R V M E K G S | L K p.120
. . . . . . g.69229
TGCGCACAATACTGGCCACAAAAAGAAGAAAAAGAGATGATCTTTGAAGACACAAATTTG c.420
C A Q Y W P Q K E E K E M I F E D T N L p.140
. . . . . . g.69289
AAATTAACATTGATCTCTGAAGATATCAAGTCATATTATACAGTGCGACAGCTAGAATTG c.480
K L T L I S E D I K S Y Y T V R Q L E L p.160
. | 06 . . . . . g.73114
GAAAACCTTACA | ACCCAAGAAACTCGAGAGATCTTACATTTCCACTATACCACATGGCCT c.540
E N L T | T Q E T R E I L H F H Y T T W P p.180
. . . . . . g.73174
GACTTTGGAGTCCCTGAATCACCAGCCTCATTCTTGAACTTTCTTTTCAAAGTCCGAGAG c.600
D F G V P E S P A S F L N F L F K V R E p.200
. . . . . . g.73234
TCAGGGTCACTCAGCCCGGAGCACGGGCCCGTTGTGGTGCACTGCAGTGCAGGCATCGGC c.660
S G S L S P E H G P V V V H C S A G I G p.220
. . . . | 07 . . g.73832
AGGTCTGGAACCTTCTGTCTGGCTGATACCTGCCTCTTGCTG | ATGGACAAGAGGAAAGAC c.720
R S G T F C L A D T C L L L | M D K R K D p.240
. . . . . . g.73892
CCTTCTTCCGTTGATATCAAGAAAGTGCTGTTAGAAATGAGGAAGTTTCGGATGGGGCTG c.780
P S S V D I K K V L L E M R K F R M G L p.260
. . . . . . g.73952
ATCCAGACAGCCGACCAGCTGCGCTTCTCCTACCTGGCTGTGATCGAAGGTGCCAAATTC c.840
I Q T A D Q L R F S Y L A V I E G A K F p.280
. . | 08 . . . . g.74385
ATCATGGGGGACTCTTCCGTGCAG | GATCAGTGGAAGGAGCTTTCCCACGAGGACCTGGAG c.900
I M G D S S V Q | D Q W K E L S H E D L E p.300
. . . . . . g.74445
CCCCCACCCGAGCATATCCCCCCACCTCCCCGGCCACCCAAACGAATCCTGGAGCCACAC c.960
P P P E H I P P P P R P P K R I L E P H p.320
. . . . . . g.74505
AATGGGAAATGCAGGGAGTTCTTCCCAAATCACCAGTGGGTGAAGGAAGAGACCCAGGAG c.1020
N G K C R E F F P N H Q W V K E E T Q E p.340
. . . . . . g.74565
GATAAAGACTGCCCCATCAAGGAAGAAAAAGGAAGCCCCTTAAATGCCGCACCCTACGGC c.1080
D K D C P I K E E K G S P L N A A P Y G p.360
| 09 . . . . . g.75963
ATCGAAAG | CATGAGTCAAGACACTGAAGTTAGAAGTCGGGTCGTGGGGGGAAGTCTTCGA c.1140
I E S | M S Q D T E V R S R V V G G S L R p.380
. . . . . . g.76023
GGTGCCCAGGCTGCCTCCCCAGCCAAAGGGGAGCCGTCACTGCCCGAGAAGGACGAGGAC c.1200
G A Q A A S P A K G E P S L P E K D E D p.400
. . . . . . g.76083
CATGCACTGAGTTACTGGAAGCCCTTCCTGGTCAACATGTGCGTGGCTACGGTCCTCACG c.1260
H A L S Y W K P F L V N M C V A T V L T p.420
. . | 10 . . g.77374
GCCGGCGCTTACCTCTGCTACAGG | TTCCTGTTCAACAGCAACACATAG c.1308
A G A Y L C Y R | F L F N S N T X p.435
. . . . . . g.77434
cctgaccctcctccactccacctccacccactgtccgcctctgcccgcagagcccacgcc c.*60
. . . . . . g.77494
cgactagcaggcatgccgcggtaggtaagggccgccggaccgcgtagagagccgggcccc c.*120
. . . . . . g.77554
ggacggacgttggttctgcactaaaacccatcttccccggatgtgtgtctcacccctcat c.*180
. . . . . . g.77614
ccttttactttttgccccttccactttgagtaccaaatccacaagccattttttgaggag c.*240
. . . . . . g.77674
agtgaaagagagtaccatgctggcggcgcagagggaaggggcctacacccgtcttggggc c.*300
. . . . . . g.77734
tcgccccacccagggctccctcctggagcatcccaggcgggcggcacgccaacagccccc c.*360
. . . . . . g.77794
cccttgaatctgcagggagcaactctccactccatatttatttaaacaattttttcccca c.*420
. . . . . . g.77854
aaggcatccatagtgcactagcattttcttgaaccaataatgtattaaaattttttgatg c.*480
. . . . . . g.77914
tcagccttgcatcaagggctttatcaaaaagtacaataataaatcctcaggtagtactgg c.*540
. . . . . . g.77974
gaatggaaggctttgccatgggcctgctgcgtcagaccagtactgggaaggaggacggtt c.*600
. . . . . . g.78034
gtaagcagttgttatttagtgatattgtgggtaacgtgagaagatagaacaatgctataa c.*660
. . . . . . g.78094
tatataatgaacacgtgggtatttaataagaaacatgatgtgagattactttgtcccgct c.*720
. . . . . . g.78154
tattctcctccctgttatctgctagatctagttctcaatcactgctcccccgtgtgtatt c.*780
. . . . . . g.78214
agaatgcatgtaaggtcttcttgtgtcctgatgaaaaatatgtgcttgaaatgagaaact c.*840
. . . . . . g.78274
ttgatctctgcttactaatgtgccccatgtccaagtccaacctgcctgtgcatgacctga c.*900
. . . . . . g.78334
tcattacatggctgtggttcctaagcctgttgctgaagtcattgtcgctcagcaataggg c.*960
. . . . . . g.78394
tgcagttttccaggaataggcatttgcctaattcctggcatgacactctagtgacttcct c.*1020
. . . . . . g.78454
ggtgaggcccagcctgtcctggtacagcagggtcttgctgtaactcagacattccaaggg c.*1080
. . . . . . g.78514
tatgggaagccatattcacacctcacgctctggacatgatttagggaagcagggacaccc c.*1140
. . . . . . g.78574
cccgccccccacctttgggatcagcctccgccattccaagtcaacactcttcttgagcag c.*1200
. . . . . . g.78634
accgtgatttggaagagaggcacctgctggaaaccacacttcttgaaacagcctgggtga c.*1260
. . . . . . g.78694
cggtcctttaggcagcctgccgccgtctctgtcccggttcaccttgccgagagaggcgcg c.*1320
. . . . . . g.78754
tctgccccaccctcaaaccctgtggggcctgatggtgctcacgactcttcctgcaaaggg c.*1380
. . . . . . g.78814
aactgaagacctccacattaagtggctttttaacatgaaaaacacggcagctgtagctcc c.*1440
. . . . . . g.78874
cgagctactctcttgccagcattttcacattttgcctttctcgtggtagaagccagtaca c.*1500
. . . . . . g.78934
gagaaattctgtggtgggaacattcgaggtgtcaccctgcagagctatggtgaggtgtgg c.*1560
. . . . . . g.78994
ataaggcttaggtgccaggctgtaagcattctgagctgggcttgttgtttttaagtcctg c.*1620
. . . . . . g.79054
tatatgtatgtagtagtttgggtgtgtatatatagtagcatttcaaaatggacgtactgg c.*1680
. . . . . . g.79114
tttaacctcctatccttggagagcagctggctctccaccttgttacacattatgttagag c.*1740
. . . . . . g.79174
aggtagcgagctgctctgctatatgccttaagccaatatttactcatcaggtcattattt c.*1800
. . . . . . g.79234
tttacaatggccatggaataaaccatttttacaaaaataaaaacaaaaaaagcaaggtgt c.*1860
. . . . . . g.79294
tttggtataataccttttcaggtgtgtgtggatacgtggctgcatgaccgggtgggtggg c.*1920
. . . . . . g.79354
ggggagtgtctcagggtcttctgtgacctcacagaactgtcagactgtacagttttccaa c.*1980
. . . . . . g.79414
cttgccatattcatgatgggtttgcattttagctgcaacaataaaatttttttctaaaga c.*2040
g.79421
acatgaa c.*2047
(downstream sequence)
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