(used for variant description)
(last modified September 10, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_002838.4 in the PTPRC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007730.1, covering PTPRC transcript NM_002838.4.
(upstream sequence)
. . . g.5033
agaacaacttttttgacttcctgcaaagaggac c.-181
. . . . . . g.5093
ccttacagtatttttggagaagttagtaaaaccgaatctgacatcatcacctagcagttc c.-121
. . . . . . g.5153
atgcagctagcaagtggtttgttcttagggtaacagaggaggaaattgttcctcgtctga c.-61
. . | 02 . . . . g.5301
taagacaacagtggaga | aaggacgcatgctgtttcttagggacacggctgacttccagat c.-1
. . . . . . g.5361
ATGACCATGTATTTGTGGCTTAAACTCTTGGCATTTGGCTTTGCCTTTCTGGACACAGAA c.60
M T M Y L W L K L L A F G F A F L D T E p.20
. | 03 . . . | 04 . . g.62763
GTATTTGTGACAG | GGCAAAGCCCAACACCTTCCCCCACTG | GATTGACTACAGCAAAGATG c.120
V F V T G | Q S P T P S P T G | L T T A K M p.40
. . . . . . g.62823
CCCAGTGTTCCACTTTCAAGTGACCCCTTACCTACTCACACCACTGCATTCTCACCCGCA c.180
P S V P L S S D P L P T H T T A F S P A p.60
. . . . . . g.62883
AGCACCTTTGAAAGAGAAAATGACTTCTCAGAGACCACAACTTCTCTTAGTCCAGACAAT c.240
S T F E R E N D F S E T T T S L S P D N p.80
. . . . . | 05 g.65597
ACTTCCACCCAAGTATCCCCGGACTCTTTGGATAATGCTAGTGCTTTTAATACCACAG | GT c.300
T S T Q V S P D S L D N A S A F N T T G | p.100
. . . . . . g.65657
GTTTCATCAGTACAGACGCCTCACCTTCCCACGCACGCAGACTCGCAGACGCCCTCTGCT c.360
V S S V Q T P H L P T H A D S Q T P S A p.120
. . . . . . g.65717
GGAACTGACACGCAGACATTCAGCGGCTCCGCCGCCAATGCAAAACTCAACCCTACCCCA c.420
G T D T Q T F S G S A A N A K L N P T P p.140
. | 06 . . . . g.68459
GGCAGCAATGCTATCTCAG | ATGTCCCAGGAGAGAGGAGTACAGCCAGCACCTTTCCTACA c.480
G S N A I S D | V P G E R S T A S T F P T p.160
. . . . . . g.68519
GACCCAGTTTCCCCATTGACAACCACCCTCAGCCTTGCACACCACAGCTCTGCTGCCTTA c.540
D P V S P L T T T L S L A H H S S A A L p.180
. . . . | 07 . . g.69346
CCTGCACGCACCTCCAACACCACCATCACAGCGAACACCTCAG | ATGCCTACCTTAATGCC c.600
P A R T S N T T I T A N T S D | A Y L N A p.200
. . . . . | 08 g.70505
TCTGAAACAACCACTCTGAGCCCTTCTGGAAGCGCTGTCATTTCAACCACAACAATAG | CT c.660
S E T T T L S P S G S A V I S T T T I A | p.220
. . | 09 . . . . g.72800
ACTACTCCATCTAAGCCAACATGTG | ATGAAAAATATGCAAACATCACTGTGGATTACTTA c.720
T T P S K P T C D | E K Y A N I T V D Y L p.240
. . . . . . g.72860
TATAACAAGGAAACTAAATTATTTACAGCAAAGCTAAATGTTAATGAGAATGTGGAATGT c.780
Y N K E T K L F T A K L N V N E N V E C p.260
. . . . . . g.72920
GGAAACAATACTTGCACAAACAATGAGGTGCATAACCTTACAGAATGTAAAAATGCGTCT c.840
G N N T C T N N E V H N L T E C K N A S p.280
. . . . . . g.72980
GTTTCCATATCTCATAATTCATGTACTGCTCCTGATAAGACATTAATATTAGATGTGCCA c.900
V S I S H N S C T A P D K T L I L D V P p.300
| 10 . . . . . . g.74220
CCAG | GGGTTGAAAAGTTTCAGTTACATGATTGTACACAAGTTGAAAAAGCAGATACTACT c.960
P G | V E K F Q L H D C T Q V E K A D T T p.320
. . . . . . g.74280
ATTTGTTTAAAATGGAAAAATATTGAAACCTTTACTTGTGATACACAGAATATTACCTAC c.1020
I C L K W K N I E T F T C D T Q N I T Y p.340
. | 11 . . . . . g.75765
AGATTTCAGTGTG | GTAATATGATATTTGATAATAAAGAAATTAAATTAGAAAACCTTGAA c.1080
R F Q C G | N M I F D N K E I K L E N L E p.360
. . . . . . g.75825
CCCGAACATGAGTATAAGTGTGACTCAGAAATACTCTATAATAACCACAAGTTTACTAAC c.1140
P E H E Y K C D S E I L Y N N H K F T N p.380
. . . | 12 . . . g.79013
GCAAGTAAAATTATTAAAACAGATTTTGGGA | GTCCAGGAGAGCCTCAGATTATTTTTTGT c.1200
A S K I I K T D F G S | P G E P Q I I F C p.400
. . . . . . g.79073
AGAAGTGAAGCTGCACATCAAGGAGTAATTACCTGGAATCCCCCTCAAAGATCATTTCAT c.1260
R S E A A H Q G V I T W N P P Q R S F H p.420
. . . | 13 . . . g.82742
AATTTTACCCTCTGTTATATAAAAGAGACAG | AAAAAGATTGCCTCAATCTGGATAAAAAC c.1320
N F T L C Y I K E T E | K D C L N L D K N p.440
. . . . . . g.82802
CTGATCAAATATGATTTGCAAAATTTAAAACCTTATACGAAATATGTTTTATCATTACAT c.1380
L I K Y D L Q N L K P Y T K Y V L S L H p.460
. . . . . . g.82862
GCCTACATCATTGCAAAAGTGCAACGTAATGGAAGTGCTGCAATGTGTCATTTCACAACT c.1440
A Y I I A K V Q R N G S A A M C H F T T p.480
. | 14 . . . . . g.84175
AAAAGTGCTC | CTCCAAGCCAGGTCTGGAACATGACTGTCTCCATGACATCAGATAATAGT c.1500
K S A P | P S Q V W N M T V S M T S D N S p.500
. . . . . . g.84235
ATGCATGTCAAGTGTAGGCCTCCCAGGGACCGTAATGGCCCCCATGAACGTTACCATTTG c.1560
M H V K C R P P R D R N G P H E R Y H L p.520
. . . . . . g.84295
GAAGTTGAAGCTGGAAATACTCTGGTTAGAAATGAGTCGCATAAGAATTGCGATTTCCGT c.1620
E V E A G N T L V R N E S H K N C D F R p.540
. . . | 15 . . g.88468
GTAAAAGATCTTCAATATTCAACAGACTACACTTTTAAG | GCCTATTTTCACAATGGAGAC c.1680
V K D L Q Y S T D Y T F K | A Y F H N G D p.560
. . . . | 16 . . g.94391
TATCCTGGAGAACCCTTTATTTTACATCATTCAACATCTT | ATAATTCTAAGGCACTGATA c.1740
Y P G E P F I L H H S T S Y | N S K A L I p.580
. . . . . . g.94451
GCATTTCTGGCATTTCTGATTATTGTGACATCAATAGCCCTGCTTGTTGTTCTCTACAAA c.1800
A F L A F L I I V T S I A L L V V L Y K p.600
. . | 17 . . . g.95199
ATCTATGATCTACATAAGAAAAGATCCTG | CAATTTAGATGAACAGCAGGAGCTTGTTGAA c.1860
I Y D L H K K R S C | N L D E Q Q E L V E p.620
| 18 . . . . . . g.97704
AGGG | ATGATGAAAAACAACTGATGAATGTGGAGCCAATCCATGCAGATATTTTGTTGGAA c.1920
R D | D E K Q L M N V E P I H A D I L L E p.640
. . . . . | 19 . g.98337
ACTTATAAGAGGAAGATTGCTGATGAAGGAAGACTTTTTCTGGCTGAATTTCAG | AGCATC c.1980
T Y K R K I A D E G R L F L A E F Q | S I p.660
. . . . . . g.98397
CCGCGGGTGTTCAGCAAGTTTCCTATAAAGGAAGCTCGAAAGCCCTTTAACCAGAATAAA c.2040
P R V F S K F P I K E A R K P F N Q N K p.680
. . | 20 . . . . g.98546
AACCGTTATGTTGACATTCTTCCTT | ATGATTATAACCGTGTTGAACTCTCTGAGATAAAC c.2100
N R Y V D I L P Y | D Y N R V E L S E I N p.700
. . . . | 21 . . g.100245
GGAGATGCAGGGTCAAACTACATAAATGCCAGCTATATTGAT | GGTTTCAAAGAACCCAGG c.2160
G D A G S N Y I N A S Y I D | G F K E P R p.720
. | 22 . . . . g.100400
AAATACATTGCTGCACAAG | GTCCCAGGGATGAAACTGTTGATGATTTCTGGAGGATGATT c.2220
K Y I A A Q G | P R D E T V D D F W R M I p.740
. . . . . | 23. g.101161
TGGGAACAGAAAGCCACAGTTATTGTCATGGTCACTCGATGTGAAGAAGGAAACAGG | AAC c.2280
W E Q K A T V I V M V T R C E E G N R | N p.760
. . . . . . g.101221
AAGTGTGCAGAATACTGGCCGTCAATGGAAGAGGGCACTCGGGCTTTTGGAGATGTTGTT c.2340
K C A E Y W P S M E E G T R A F G D V V p.780
. . . . . . g.101281
GTAAAGATCAACCAGCACAAAAGATGTCCAGATTACATCATTCAGAAATTGAACATTGTA c.2400
V K I N Q H K R C P D Y I I Q K L N I V p.800
| 24 . . . . . . g.107957
AAT | AAAAAAGAAAAAGCAACTGGAAGAGAGGTGACTCACATTCAGTTCACCAGCTGGCCA c.2460
N | K K E K A T G R E V T H I Q F T S W P p.820
. . . . . . g.108017
GACCACGGGGTGCCTGAGGATCCTCACTTGCTCCTCAAACTGAGAAGGAGAGTGAATGCC c.2520
D H G V P E D P H L L L K L R R R V N A p.840
. . . . | 25 . . g.108282
TTCAGCAATTTCTTCAGTGGTCCCATTGTGGTGCACTGCAG | TGCTGGTGTTGGGCGCACA c.2580
F S N F F S G P I V V H C S | A G V G R T p.860
. . . . . . g.108342
GGAACCTATATCGGAATTGATGCCATGCTAGAAGGCCTGGAAGCCGAGAACAAAGTGGAT c.2640
G T Y I G I D A M L E G L E A E N K V D p.880
. . . . . | 26. g.110088
GTTTATGGTTATGTTGTCAAGCTAAGGCGACAGAGATGCCTGATGGTTCAAGTAGAG | GCC c.2700
V Y G Y V V K L R R Q R C L M V Q V E | A p.900
. . . . . . g.110148
CAGTACATCTTGATCCATCAGGCTTTGGTGGAATACAATCAGTTTGGAGAAACAGAAGTG c.2760
Q Y I L I H Q A L V E Y N Q F G E T E V p.920
. . . . . . g.110208
AATTTGTCTGAATTACATCCATATCTACATAACATGAAGAAAAGGGATCCACCCAGTGAG c.2820
N L S E L H P Y L H N M K K R D P P S E p.940
. . | 27. . . . g.114173
CCGTCTCCACTAGAGGCTGAATTCCAG | AGACTTCCTTCATATAGGAGCTGGAGGACACAG c.2880
P S P L E A E F Q | R L P S Y R S W R T Q p.960
. . . . . | 28 g.115449
CACATTGGAAATCAAGAAGAAAATAAAAGTAAAAACAGGAATTCTAATGTCATCCCAT | AT c.2940
H I G N Q E E N K S K N R N S N V I P Y | p.980
. . . . . . g.115509
GACTATAACAGAGTGCCACTTAAACATGAGCTGGAAATGAGTAAAGAGAGTGAGCATGAT c.3000
D Y N R V P L K H E L E M S K E S E H D p.1000
. . . . . . g.115569
TCAGATGAATCCTCTGATGATGACAGTGATTCAGAGGAACCAAGCAAATACATCAATGCA c.3060
S D E S S D D D S D S E E P S K Y I N A p.1020
. | 29 . . . . . g.116571
TCTTTTATAATG | AGCTACTGGAAACCTGAAGTGATGATTGCTGCTCAGGGACCACTGAAG c.3120
S F I M | S Y W K P E V M I A A Q G P L K p.1040
. . . . . . g.116631
GAGACCATTGGTGACTTTTGGCAGATGATCTTCCAAAGAAAAGTCAAAGTTATTGTTATG c.3180
E T I G D F W Q M I F Q R K V K V I V M p.1060
. . | 30. . . . g.118313
CTGACAGAACTGAAACATGGAGACCAG | GAAATCTGTGCTCAGTACTGGGGAGAAGGAAAG c.3240
L T E L K H G D Q | E I C A Q Y W G E G K p.1080
. . . . . . g.118373
CAAACATATGGAGATATTGAAGTTGACCTGAAAGACACAGACAAATCTTCAACTTATACC c.3300
Q T Y G D I E V D L K D T D K S S T Y T p.1100
. . . | 31 . . . g.118655
CTTCGTGTCTTTGAACTGAGACATTCCAAG | AGGAAAGACTCTCGAACTGTGTACCAGTAC c.3360
L R V F E L R H S K | R K D S R T V Y Q Y p.1120
. . . . . . g.118715
CAATATACAAACTGGAGTGTGGAGCAGCTTCCTGCAGAACCCAAGGAATTAATCTCTATG c.3420
Q Y T N W S V E Q L P A E P K E L I S M p.1140
. . . . . . g.118775
ATTCAGGTCGTCAAACAAAAACTTCCCCAGAAGAATTCCTCTGAAGGGAACAAGCATCAC c.3480
I Q V V K Q K L P Q K N S S E G N K H H p.1160
. . | 32 . . . g.120331
AAGAGTACACCTCTACTCATTCACTGCAG | GGATGGATCTCAGCAAACGGGAATATTTTGT c.3540
K S T P L L I H C R | D G S Q Q T G I F C p.1180
. . . . . . g.120391
GCTTTGTTAAATCTCTTAGAAAGTGCGGAAACAGAAGAGGTAGTGGATATTTTTCAAGTG c.3600
A L L N L L E S A E T E E V V D I F Q V p.1200
. . . . | 33 . . g.121952
GTAAAAGCTCTACGCAAAGCTAGGCCAGGCATGGTTTCCACATTC | GAGCAATATCAATTC c.3660
V K A L R K A R P G M V S T F | E Q Y Q F p.1220
. . . . . . g.122012
CTATATGACGTCATTGCCAGCACCTACCCTGCTCAGAATGGACAAGTAAAGAAAAACAAC c.3720
L Y D V I A S T Y P A Q N G Q V K K N N p.1240
. . . . . . g.122072
CATCAAGAAGATAAAATTGAATTTGATAATGAAGTGGACAAAGTAAAGCAGGATGCTAAT c.3780
H Q E D K I E F D N E V D K V K Q D A N p.1260
. . . . . . g.122132
TGTGTTAATCCACTTGGTGCCCCAGAAAAGCTCCCTGAAGCAAAGGAACAGGCTGAAGGT c.3840
C V N P L G A P E K L P E A K E Q A E G p.1280
. . . . . . g.122192
TCTGAACCCACGAGTGGCACTGAGGGGCCAGAACATTCTGTCAATGGTCCTGCAAGTCCA c.3900
S E P T S G T E G P E H S V N G P A S P p.1300
. . g.122213
GCTTTAAATCAAGGTTCATAG c.3921
A L N Q G S X p.1306
. . . . . . g.122273
gaaaagacataaatgaggaaactccaaacctcctgttagctgttatttctatttttgtag c.*60
. . . . . . g.122333
aagtaggaagtgaaaataggtatacagtggattaattaaatgcagcgaaccaatatttgt c.*120
. . . . . . g.122393
agaagggttatattttactactgtggaaaaatatttaagatagttttgccagaacagttt c.*180
. . . . . . g.122453
gtacagacgtatgcttattttaaaattttatctcttattcagtaaaaaacaacttctttg c.*240
. . . . . . g.122513
taatcgttatgtgtgtatatgtatgtgtgtatgggtgtgtgtttgtgtgagagacagaga c.*300
. . . . . . g.122573
aagagagagaattctttcaagtgaatctaaaagcttttgcttttcctttgtttttatgaa c.*360
. . . . . . g.122633
gaaaaaatacattttatattagaagtgttaacttagcttgaaggatctgtttttaaaaat c.*420
. . . . . . g.122693
cataaactgtgtgcagactcaataaaatcatgtacatttctgaaatgacctcaagatgtc c.*480
. . . . . . g.122753
ctccttgttctactcatatatatctatcttatatagtttactattttacttctagagata c.*540
. . . . . . g.122813
gtacataaaggtggtatgtgtgtgtatgctactacaaaaaagttgttaactaaattaaca c.*600
. . . . . . g.122873
ttgggaaatcttatattccatatattagcatttagtccaatgtctttttaagcttattta c.*660
. . . . . . g.122933
attaaaaaatttccagtgagcttatcatgctgtctttacatggggttttcaattttgcat c.*720
. . . . . . g.122993
gctcgattattccctgtacaatatttaaaatttattgcttgatacttttgacaacaaatt c.*780
. . . . . . g.123053
aggttttgtacaattgaacttaaataaatgtcattaaaataaataaatgcaatatgtatt c.*840
. . . . . . g.123113
aatattcattgtataaaaatagaagaatacaaacatatttgttaaatatttacatatgaa c.*900
. . . . . . g.123173
atttaatatagctatttttatggaatttttcattgatatgaaaaatatgatattgcatat c.*960
. . . . . . g.123233
gcatagttcccatgttaaatcccattcataactttcattaaagcatttactttgaatttc c.*1020
. . . . . . g.123293
tccaatgcttagaatgtttttaccaggaatggatgtcgctaatcataataaaattcaacc c.*1080
. . . . . . g.123353
attatttttttcttgtttataatacattgtgttatatgttcaaatatgaaatgtgtatgc c.*1140
. . . . . . g.123413
acctattgaaatatgtttaatgcatttattaacatttgcaggacacttttacaggcccca c.*1200
. . . . . . g.123473
attatccaatagtctaataattgtttaagatctagaaaaaaaaaatcaagaatagtggta c.*1260
. . . g.123508
tttttcatgaagtaataaaaactcgttttggtgaa c.*1295
(downstream sequence)
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