(used for variant description)
(last modified June 21, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_002835.3 in the PTPN12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008394.1, covering PTPN12 transcript NM_002835.3.
(upstream sequence)
. . . g.5031
ggggaacgagctggggaagacggagcgggct c.-61
. . . . . . g.5091
ctgtgccgggcgggcgggcggcgggggggccagcgaccgcagccggggggacgcgggagg c.-1
. . . . . . g.5151
ATGGAGCAAGTGGAGATCCTGAGGAAATTCATCCAGAGGGTCCAGGCCATGAAGAGTCCT c.60
M E Q V E I L R K F I Q R V Q A M K S P p.20
. . . | 02 . . g.38643
GACCACAATGGGGAGGACAACTTCGCCCGGGACTTCATG | CGGTTAAGAAGATTGTCTACC c.120
D H N G E D N F A R D F M | R L R R L S T p.40
. . . . . . g.38703
AAATATAGAACAGAAAAGATATATCCCACAGCCACTGGAGAAAAAGAAGAAAATGTTAAA c.180
K Y R T E K I Y P T A T G E K E E N V K p.60
. . | 03 . . . g.49003
AAGAACAGATACAAGGACATACTGCCAT | TTGATCACAGCCGAGTTAAATTGACATTAAAG c.240
K N R Y K D I L P F | D H S R V K L T L K p.80
. . . . | 04 . . g.51114
ACTCCTTCACAAGATTCAGACTATATCAATGCAAATTTTATAAAG | GGCGTCTATGGGCCA c.300
T P S Q D S D Y I N A N F I K | G V Y G P p.100
. . . . . . g.51174
AAAGCATATGTAGCAACTCAAGGACCTTTAGCAAATACAGTAATAGATTTTTGGAGGATG c.360
K A Y V A T Q G P L A N T V I D F W R M p.120
. . | 05 . . . . g.53126
ATATGGGAGTATAATGTTGTG | ATCATTGTAATGGCCTGCCGAGAATTTGAGATGGGAAGG c.420
I W E Y N V V | I I V M A C R E F E M G R p.140
| 06 . . . . . . g.59789
| AAAAAATGTGAGCGCTATTGGCCTTTGTATGGAGAAGACCCCATAACGTTTGCACCATTT c.480
| K K C E R Y W P L Y G E D P I T F A P F p.160
. | 07 . . . . . g.65434
AAAATTTCTTGT | GAGGATGAACAAGCAAGAACAGACTACTTCATCAGGACACTCTTACTT c.540
K I S C | E D E Q A R T D Y F I R T L L L p.180
. | 08 . . . . . g.68256
GAATTTCAAAAT | GAATCTCGTAGGCTGTATCAGTTTCATTATGTGAACTGGCCAGACCAT c.600
E F Q N | E S R R L Y Q F H Y V N W P D H p.200
. . . . . . g.68316
GATGTTCCTTCATCATTTGATTCTATTCTGGACATGATAAGCTTAATGAGGAAATATCAA c.660
D V P S S F D S I L D M I S L M R K Y Q p.220
. . . | 09 . . . g.74804
GAACATGAAGATGTTCCTATTTGTATTCATTGCAG | TGCAGGCTGTGGAAGAACAGGTGCC c.720
E H E D V P I C I H C S | A G C G R T G A p.240
. . . . | 10 . . g.78327
ATTTGTGCCATAGATTATACGTGGAATTTACTAAAAGCTGGG | AAAATACCAGAGGAATTT c.780
I C A I D Y T W N L L K A G | K I P E E F p.260
. . . . . . g.78387
AATGTATTTAATTTAATACAAGAAATGAGAACACAAAGGCATTCTGCAGTACAAACAAAG c.840
N V F N L I Q E M R T Q R H S A V Q T K p.280
| 11 . . . . . . g.78552
| GAGCAATATGAACTTGTTCATAGAGCTATTGCCCAACTGTTTGAAAAACAGCTACAACTA c.900
| E Q Y E L V H R A I A Q L F E K Q L Q L p.300
. . . | 12 . . g.86045
TATGAAATTCATGGAGCTCAGAAAATTGCTGATGGAGTG | AATGAAATTAACACTGAAAAC c.960
Y E I H G A Q K I A D G V | N E I N T E N p.320
. . . . . . g.86105
ATGGTCAGCTCCATAGAGCCTGAAAAACAAGATTCTCCTCCTCCAAAACCACCAAGGACC c.1020
M V S S I E P E K Q D S P P P K P P R T p.340
| 13 . . . . . . g.94304
CGCAG | TTGCCTTGTTGAAGGGGATGCTAAAGAAGAAATACTGCAGCCACCGGAACCTCAT c.1080
R S | C L V E G D A K E E I L Q P P E P H p.360
. . . . . . g.94364
CCAGTGCCACCCATCTTGACACCTTCTCCCCCTTCAGCTTTTCCAACAGTCACTACTGTG c.1140
P V P P I L T P S P P S A F P T V T T V p.380
. . . . . . g.94424
TGGCAGGACAATGATAGATACCATCCAAAGCCAGTGTTGCATATGGTTTCATCAGAACAA c.1200
W Q D N D R Y H P K P V L H M V S S E Q p.400
. . . . . . g.94484
CATTCAGCAGACCTCAACAGAAACTATAGTAAATCAACAGAACTTCCAGGGAAAAATGAA c.1260
H S A D L N R N Y S K S T E L P G K N E p.420
. . . . . . g.94544
TCAACAATTGAACAGATAGATAAAAAATTGGAACGAAATTTAAGTTTTGAGATTAAGAAG c.1320
S T I E Q I D K K L E R N L S F E I K K p.440
. . . . . . g.94604
GTCCCTCTCCAAGAGGGACCAAAAAGTTTTGATGGGAACACACTTTTGAATAGGGGACAT c.1380
V P L Q E G P K S F D G N T L L N R G H p.460
. . . . . . g.94664
GCAATTAAAATTAAATCTGCTTCACCTTGTATAGCTGATAAAATCTCTAAGCCACAGGAA c.1440
A I K I K S A S P C I A D K I S K P Q E p.480
. . . . . . g.94724
TTAAGTTCAGATCTAAATGTCGGTGATACTTCCCAGAATTCTTGTGTGGACTGCAGTGTA c.1500
L S S D L N V G D T S Q N S C V D C S V p.500
. . . . . . g.94784
ACACAATCAAACAAAGTTTCAGTTACTCCACCAGAAGAATCCCAGAATTCAGACACACCT c.1560
T Q S N K V S V T P P E E S Q N S D T P p.520
. . . . . . g.94844
CCAAGGCCAGACCGCTTGCCTCTTGATGAGAAAGGACATGTAACGTGGTCATTTCATGGA c.1620
P R P D R L P L D E K G H V T W S F H G p.540
. . . . . . g.94904
CCTGAAAATGCCATACCCATACCTGATTTATCTGAAGGCAATTCCTCAGATATCAACTAT c.1680
P E N A I P I P D L S E G N S S D I N Y p.560
. . . . . . g.94964
CAAACTAGGAAAACTGTGAGTTTAACACCAAGTCCTACAACACAAGTTGAAACACCTGAT c.1740
Q T R K T V S L T P S P T T Q V E T P D p.580
. . . . . . g.95024
CTTGTGGATCATGATAACACTTCACCACTCTTCAGAACACCCCTCAGTTTTACTAATCCA c.1800
L V D H D N T S P L F R T P L S F T N P p.600
. . . . . . g.95084
CTTCACTCTGATGACTCAGACTCAGATGAAAGAAACTCTGATGGTGCTGTGACCCAGAAT c.1860
L H S D D S D S D E R N S D G A V T Q N p.620
. . . . . . g.95144
AAAACTAATATTTCAACAGCAAGTGCCACAGTTTCTGCTGCCACTAGTACTGAAAGCATT c.1920
K T N I S T A S A T V S A A T S T E S I p.640
. . . . . . g.95204
TCTACTAGGAAAGTATTGCCAATGTCCATTGCTAGACATAATATAGCAGGAACAACACAT c.1980
S T R K V L P M S I A R H N I A G T T H p.660
. | 14 . . . . . g.99936
TCAGGTGCTGAAAAAG | ATGTTGATGTTAGTGAAGATTCACCTCCTCCCCTACCTGAAAGA c.2040
S G A E K D | V D V S E D S P P P L P E R p.680
. . . | 15 . . . g.103352
ACTCCTGAATCGTTTGTGTTAGCAAGTGAACATA | ATACACCTGTAAGATCGGAATGGAGT c.2100
T P E S F V L A S E H N | T P V R S E W S p.700
. . . . | 16 . . g.104580
GAACTTCAAAGTCAGGAACGATCTGAACAAAAAAAGTCTGAA | GGCTTGATAACCTCTGAA c.2160
E L Q S Q E R S E Q K K S E | G L I T S E p.720
. | 17 . . . . . g.106215
AATGAGAAATGTG | ATCATCCAGCGGGAGGTATTCACTATGAAATGTGCATAGAATGTCCA c.2220
N E K C D | H P A G G I H Y E M C I E C P p.740
. . . . . . g.106275
CCTACTTTCAGTGACAAGAGAGAACAAATATCAGAAAATCCAACAGAAGCCACAGATATT c.2280
P T F S D K R E Q I S E N P T E A T D I p.760
| 18 . . . . . . g.106822
G | GTTTTGGTAATCGATGTGGAAAACCCAAAGGACCAAGAGATCCACCTTCAGAATGGACA c.2340
G | F G N R C G K P K G P R D P P S E W T p.780
g.106825
TGA c.2343
X p.780
. . . . . . g.106885
ttcagggagctagaagacactttaagttatactggaaaattcaggtgccactgaaagcca c.*60
. . . . . . g.106945
gatttatagtattccatctttaatatgtgggactaacagcagtgtagattgttaccttaa c.*120
. . . . . . g.107005
tattttttgctgggaccatctacctgccttatactacacttaggaaaaagtattacatat c.*180
. . . . . . g.107065
ggtttattttgaaacttcaagtattattgccttaatgtctcttaaccctgttacacgctg c.*240
. . . . . . g.107125
cttgtagacatgttaatatagtaatacctttatgatatattgagtttaaggactactctt c.*300
. . . . . . g.107185
tttctgttttatcatgtatgcattattttgtatatgtacagggcaagtaggtatataatt c.*360
. . . . . . g.107245
tgataaagttgcaattgaaatattattaacagaagatgtaagaaatttctgcatggtcta c.*420
. . . . . . g.107305
aatctttgtgtactttatttgtaaattatttgccctggagttttagaaaatagtttctga c.*480
. . . . . . g.107365
attttaaacttgctggattcatgcagccagctttgcaggttatcagagatcaaagattgt c.*540
. . . . . . g.107425
aataataattttgtaaattgtaagcaaaaagttatttttatattatatacagtctaattg c.*600
. . . . . . g.107485
ttcatcctaattgttcctgttttcatctagtcagagattcagtaagtgccttggaacaat c.*660
. . . . . . g.107545
attgaattctcttagcttgtgtgtgtttctttaatatttgaactcaagtgggattagaag c.*720
. . . . . . g.107605
actatcaaaatacatgtatgtttcaggatatttgacctgtcattaaaaaaaacaaacagt c.*780
. g.107616
tttacagtgcc c.*791
(downstream sequence)
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