(used for variant description)
(last modified August 5, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_002227.2 in the JAK1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023402.2, covering JAK1 transcript NM_002227.2.
(upstream sequence)
g.5009
tgcagacag c.-241
. . . . . . g.5069
tgcgggcctgcgcccagtcccggctgtcctcgccgcgacccctcctcagccctgggcgcg c.-181
. . . . . . g.5129
cgcacgctggggccccgcggggctggccgcctagcgagcctgccggtcgaccccagccag c.-121
. . . . . | 02 . g.85180
cgcagcgacggggcgctgcctggcccaggcgcacacggaagtg | cgcttctctgaagtagc c.-61
. . . . . . g.85240
tttggaaagtagagaagaaaatccagtttgcttcttggagaacactggacagctgaataa c.-1
| 03 . . . . . . g.88083
ATGCAG | TATCTAAATATAAAAGAGGACTGCAATGCCATGGCTTTCTGTGCTAAAATGAGG c.60
M Q | Y L N I K E D C N A M A F C A K M R p.20
. . . . . . g.88143
AGCTCCAAGAAGACTGAGGTGAACCTGGAGGCCCCTGAGCCAGGGGTGGAAGTGATCTTC c.120
S S K K T E V N L E A P E P G V E V I F p.40
. . . . . . g.88203
TATCTGTCGGACAGGGAGCCCCTCCGGCTGGGCAGTGGAGAGTACACAGCAGAGGAACTG c.180
Y L S D R E P L R L G S G E Y T A E E L p.60
. . | 04 . . . . g.92391
TGCATCAGGGCTGCACAGGCATGCC | GTATCTCTCCTCTTTGTCACAACCTCTTTGCCCTG c.240
C I R A A Q A C R | I S P L C H N L F A L p.80
. . . . . . g.92451
TATGACGAGAACACCAAGCTCTGGTATGCTCCAAATCGCACCATCACCGTTGATGACAAG c.300
Y D E N T K L W Y A P N R T I T V D D K p.100
. . | 05 . . . g.98012
ATGTCCCTCCGGCTCCACTACCGGATGAG | GTTCTATTTCACCAATTGGCATGGAACCAAC c.360
M S L R L H Y R M R | F Y F T N W H G T N p.120
. . . . . . g.98072
GACAATGAGCAGTCAGTGTGGCGTCATTCTCCAAAGAAGCAGAAAAATGGCTACGAGAAA c.420
D N E Q S V W R H S P K K Q K N G Y E K p.140
. . . . . . g.98132
AAAAAGATTCCAGATGCAACCCCTCTCCTTGATGCCAGCTCACTGGAGTATCTGTTTGCT c.480
K K I P D A T P L L D A S S L E Y L F A p.160
| 06 . . . . . . g.102087
CAG | GGACAGTATGATTTGGTGAAATGCCTGGCTCCTATTCGAGACCCCAAGACCGAGCAG c.540
Q | G Q Y D L V K C L A P I R D P K T E Q p.180
. . . . . . g.102147
GATGGACATGATATTGAGAACGAGTGTCTAGGGATGGCTGTCCTGGCCATCTCACACTAT c.600
D G H D I E N E C L G M A V L A I S H Y p.200
. . . . | 07. . g.104309
GCCATGATGAAGAAGATGCAGTTGCCAGAACTGCCCAAGGACATCAG | CTACAAGCGATAT c.660
A M M K K M Q L P E L P K D I S | Y K R Y p.220
. . . . . . g.104369
ATTCCAGAAACATTGAATAAGTCCATCAGACAGAGGAACCTTCTCACCAGGATGCGGATA c.720
I P E T L N K S I R Q R N L L T R M R I p.240
. . . . . . g.104429
AATAATGTTTTCAAGGATTTCCTAAAGGAATTTAACAACAAGACCATTTGTGACAGCAGC c.780
N N V F K D F L K E F N N K T I C D S S p.260
. . . . . . g.104489
GTGTCCACGCATGACCTGAAGGTGAAATACTTGGCTACCTTGGAAACTTTGACAAAACAT c.840
V S T H D L K V K Y L A T L E T L T K H p.280
. . . . . . g.104549
TACGGTGCTGAAATATTTGAGACTTCCATGTTACTGATTTCATCAGAAAATGAGATGAAT c.900
Y G A E I F E T S M L L I S S E N E M N p.300
. . . . . . g.104609
TGGTTTCATTCGAATGACGGTGGAAACGTTCTCTACTACGAAGTGATGGTGACTGGGAAT c.960
W F H S N D G G N V L Y Y E V M V T G N p.320
. . . | 08 . . . g.106562
CTTGGAATCCAGTGGAGGCATAAACCAAAT | GTTGTTTCTGTTGAAAAGGAAAAAAATAAA c.1020
L G I Q W R H K P N | V V S V E K E K N K p.340
. . . . . . g.106622
CTGAAGCGGAAAAAACTGGAAAATAAACACAAGAAGGATGAGGAGAAAAACAAGATCCGG c.1080
L K R K K L E N K H K K D E E K N K I R p.360
. . . . . . g.106682
GAAGAGTGGAACAATTTTTCTTACTTCCCTGAAATCACTCACATTGTAATAAAGGAGTCT c.1140
E E W N N F S Y F P E I T H I V I K E S p.380
. . . | 09 . . . g.111266
GTGGTCAGCATTAACAAGCAGGACAACAAGAAAATG | GAACTGAAGCTCTCTTCCCACGAG c.1200
V V S I N K Q D N K K M | E L K L S S H E p.400
. . . . . . g.111326
GAGGCCTTGTCCTTTGTGTCCCTGGTAGATGGCTACTTCCGGCTCACAGCAGATGCCCAT c.1260
E A L S F V S L V D G Y F R L T A D A H p.420
. . . . . . g.111386
CATTACCTCTGCACCGACGTGGCCCCCCCGTTGATCGTCCACAACATACAGAATGGCTGT c.1320
H Y L C T D V A P P L I V H N I Q N G C p.440
. | 10 . . . . . g.113771
CATGGTCCAATCTG | TACAGAATACGCCATCAATAAATTGCGGCAAGAAGGAAGCGAGGAG c.1380
H G P I C | T E Y A I N K L R Q E G S E E p.460
. . . . . . g.113831
GGGATGTACGTGCTGAGGTGGAGCTGCACCGACTTTGACAACATCCTCATGACCGTCACC c.1440
G M Y V L R W S C T D F D N I L M T V T p.480
. | 11 . . . . g.115848
TGCTTTGAGAAGTCTGAG | CAGGTGCAGGGTGCCCAGAAGCAGTTCAAGAACTTTCAGATC c.1500
C F E K S E | Q V Q G A Q K Q F K N F Q I p.500
. . . . . . g.115908
GAGGTGCAGAAGGGCCGCTACAGTCTGCACGGTTCGGACCGCAGCTTCCCCAGCTTGGGA c.1560
E V Q K G R Y S L H G S D R S F P S L G p.520
. . . . . . g.115968
GACCTCATGAGCCACCTCAAGAAGCAGATCCTGCGCACGGATAACATCAGCTTCATGCTA c.1620
D L M S H L K K Q I L R T D N I S F M L p.540
. . | 12 . . . g.120626
AAACGCTGCTGCCAGCCCAAGCCCCGAG | AAATCTCCAACCTGCTGGTGGCTACTAAGAAA c.1680
K R C C Q P K P R E | I S N L L V A T K K p.560
. . . . . . g.120686
GCCCAGGAGTGGCAGCCCGTCTACCCCATGAGCCAGCTGAGTTTCGATCGGATCCTCAAG c.1740
A Q E W Q P V Y P M S Q L S F D R I L K p.580
. | 13 . . . . . g.123874
AAGGATCTGGTGCAG | GGCGAGCACCTTGGGAGAGGCACGAGAACACACATCTATTCTGGG c.1800
K D L V Q | G E H L G R G T R T H I Y S G p.600
. . . . . . g.123934
ACCCTGATGGATTACAAGGATGACGAAGGAACTTCTGAAGAGAAGAAGATAAAAGTGATC c.1860
T L M D Y K D D E G T S E E K K I K V I p.620
. . . | 14 . . g.124789
CTCAAAGTCTTAGACCCCAGCCACAGGGATATTTCCCTG | GCCTTCTTCGAGGCAGCCAGC c.1920
L K V L D P S H R D I S L | A F F E A A S p.640
. . . . . . g.124849
ATGATGAGACAGGTCTCCCACAAACACATCGTGTACCTCTATGGCGTCTGTGTCCGCGAC c.1980
M M R Q V S H K H I V Y L Y G V C V R D p.660
| 15. . . . . . g.125917
GTGGAGA | ATATCATGGTGGAAGAGTTTGTGGAAGGGGGTCCTCTGGATCTCTTCATGCAC c.2040
V E N | I M V E E F V E G G P L D L F M H p.680
. . . . . . g.125977
CGGAAAAGCGATGTCCTTACCACACCATGGAAATTCAAAGTTGCCAAACAGCTGGCCAGT c.2100
R K S D V L T T P W K F K V A K Q L A S p.700
. | 16 . . . . . g.126660
GCCCTGAGCTACTTG | GAGGATAAAGACCTGGTCCATGGAAATGTGTGTACTAAAAACCTC c.2160
A L S Y L | E D K D L V H G N V C T K N L p.720
. . . . . . g.126720
CTCCTGGCCCGTGAGGGCATCGACAGTGAGTGTGGCCCATTCATCAAGCTCAGTGACCCC c.2220
L L A R E G I D S E C G P F I K L S D P p.740
. . . | 17 . . . g.127318
GGCATCCCCATTACGGTGCTGTCTAGGCAAG | AATGCATTGAACGAATCCCATGGATTGCT c.2280
G I P I T V L S R Q E | C I E R I P W I A p.760
. . . . . . g.127378
CCTGAGTGTGTTGAGGACTCCAAGAACCTGAGTGTGGCTGCTGACAAGTGGAGCTTTGGA c.2340
P E C V E D S K N L S V A A D K W S F G p.780
. . . . . . g.127438
ACCACGCTCTGGGAAATCTGCTACAATGGCGAGATCCCCTTGAAAGACAAGACGCTGATT c.2400
T T L W E I C Y N G E I P L K D K T L I p.800
| 18 . . . . . . g.129960
GAG | AAAGAGAGATTCTATGAAAGCCGGTGCAGGCCAGTGACACCATCATGTAAGGAGCTG c.2460
E | K E R F Y E S R C R P V T P S C K E L p.820
. . . . . . g.130020
GCTGACCTCATGACCCGCTGCATGAACTATGACCCCAATCAGAGGCCTTTCTTCCGAGCC c.2520
A D L M T R C M N Y D P N Q R P F F R A p.840
. . . | 19 . . . g.130191
ATCATGAGAGACATTAATAAGCTTGAAGAGCAGA | ATCCAGATATTGTTTCAGAAAAAAAA c.2580
I M R D I N K L E E Q N | P D I V S E K K p.860
. . . . . . g.130251
CCAGCAACTGAAGTGGACCCCACACATTTTGAAAAGCGCTTCCTAAAGAGGATCCGTGAC c.2640
P A T E V D P T H F E K R F L K R I R D p.880
| 20 . . . . . g.131760
TTGGGAGAG | GGCCACTTTGGGAAGGTTGAGCTCTGCAGGTATGACCCCGAAGGGGACAAT c.2700
L G E | G H F G K V E L C R Y D P E G D N p.900
. . . . . . g.131820
ACAGGGGAGCAGGTGGCTGTTAAATCTCTGAAGCCTGAGAGTGGAGGTAACCACATAGCT c.2760
T G E Q V A V K S L K P E S G G N H I A p.920
. . . . . . g.131880
GATCTGAAAAAGGAAATCGAGATCTTAAGGAACCTCTATCATGAGAACATTGTGAAGTAC c.2820
D L K K E I E I L R N L Y H E N I V K Y p.940
. . | 21 . . . . g.132953
AAAGGAATCTGCACAGAAGACG | GAGGAAATGGTATTAAGCTCATCATGGAATTTCTGCCT c.2880
K G I C T E D G | G N G I K L I M E F L P p.960
. . . . . . g.133013
TCGGGAAGCCTTAAGGAATATCTTCCAAAGAATAAGAACAAAATAAACCTCAAACAGCAG c.2940
S G S L K E Y L P K N K N K I N L K Q Q p.980
. . | 22. . . . g.133433
CTAAAATATGCCGTTCAGATTTGTAAG | GGGATGGACTATTTGGGTTCTCGGCAATACGTT c.3000
L K Y A V Q I C K | G M D Y L G S R Q Y V p.1000
. . . . . . g.133493
CACCGGGACTTGGCAGCAAGAAATGTCCTTGTTGAGAGTGAACACCAAGTGAAAATTGGA c.3060
H R D L A A R N V L V E S E H Q V K I G p.1020
. . . . . . g.133553
GACTTCGGTTTAACCAAAGCAATTGAAACCGATAAGGAGTATTACACCGTCAAGGATGAC c.3120
D F G L T K A I E T D K E Y Y T V K D D p.1040
. . | 23 . . . . g.135329
CGGGACAGCCCTGTGTTTTG | GTATGCTCCAGAATGTTTAATGCAATCTAAATTTTATATT c.3180
R D S P V F W | Y A P E C L M Q S K F Y I p.1060
. . . . . . g.135389
GCCTCTGACGTCTGGTCTTTTGGAGTCACTCTGCATGAGCTGCTGACTTACTGTGATTCA c.3240
A S D V W S F G V T L H E L L T Y C D S p.1080
. | 24 . . . . g.136040
GATTCTAGTCCCATGGCT | TTGTTCCTGAAAATGATAGGCCCAACCCATGGCCAGATGACA c.3300
D S S P M A | L F L K M I G P T H G Q M T p.1100
. . . . . . g.136100
GTCACAAGACTTGTGAATACGTTAAAAGAAGGAAAACGCCTGCCGTGCCCACCTAACTGT c.3360
V T R L V N T L K E G K R L P C P P N C p.1120
| 25 . . . . . g.136898
CCAGATGAG | GTTTATCAACTTATGAGGAAATGCTGGGAATTCCAACCATCCAATCGGACA c.3420
P D E | V Y Q L M R K C W E F Q P S N R T p.1140
. . . . g.136943
AGCTTTCAGAACCTTATTGAAGGATTTGAAGCACTTTTAAAATAA c.3465
S F Q N L I E G F E A L L K X p.1154
. . . . . . g.137003
gaagcatgaataacatttaaattccacagattatcaagtccttctcctgcaacaaatgcc c.*60
. . . . . . g.137063
caagtcattttttaaaaatttctaatgaaagaagtttgtgttctgtccaaaaagtcactg c.*120
. . . . . . g.137123
aactcatacttcagtacatatacatgtataaggcacactgtagtgcttaatatgtgtaag c.*180
. . . . . . g.137183
gacttcctctttaaatttggtaccagtaacttagtgacacataatgacaaccaaaatatt c.*240
. . . . . . g.137243
tgaaagcacttaagcactcctccttgtggaaagaatataccaccatttcatctggctagt c.*300
. . . . . . g.137303
tcaccatcacaactgcattaccaaaaggggatttttgaaaacgaggagttgaccaaaata c.*360
. . . . . . g.137363
atatctgaagatgattgcttttccctgctgccagctgatctgaaatgttttgctggcaca c.*420
. . . . . . g.137423
ttaatcatagataaagaaagattgatggacttagccctcaaatttcagtatctatacagt c.*480
. . . . . . g.137483
actagaccatgcattcttaaaatattagataccaggtagtatatattgtttctgtacaaa c.*540
. . . . . . g.137543
aatgactgtattctctcaccagtaggacttaaactttgtttctccagtggcttagctcct c.*600
. . . . . . g.137603
gttcctttgggtgatcactagcacccatttttgagaaagctggttctacatggggggata c.*660
. . . . . . g.137663
gctgtggaatagataatttgctgcatgttaattctcaagaactaagcctgtgccagtgct c.*720
. . . . . . g.137723
ttcctaagcagtatacctttaatcagaactcattcccagaacctggatgctattacacat c.*780
. . . . . . g.137783
gcttttaagaaacgtcaatgtatatccttttataactctaccactttggggcaagctatt c.*840
. . . . . . g.137843
ccagcactggttttgaatgctgtatgcaaccagtctgaataccacatacgctgcactgtt c.*900
. . . . . . g.137903
cttagagggtttccatacttaccaccgatctacaagggttgatccctgtttttaccatca c.*960
. . . . . . g.137963
atcatcaccctgtggtgcaacacttgaaagacccggctagaggcactatggacttcagga c.*1020
. . . . . . g.138023
tccactagacagttttcagtttgcttggaggtagctgggtaatcaaaaatgtttagtcat c.*1080
. . . . . . g.138083
tgattcaatgtgaacgattacggtctttatgaccaagagtctgaaaatctttttgttatg c.*1140
. . . . . . g.138143
ctgtttagtattcgtttgatattgttacttttcacctgttgagcccaaattcaggattgg c.*1200
. . . . . . g.138203
ttcagtggcagcaatgaagttgccatttaaatttgttcatagcctacatcaccaaggtct c.*1260
. . . . . . g.138263
ctgtgtcaaacctgtggccactctatatgcactttgtttactctttatacaaataaatat c.*1320
. g.138282
actaaagactttacatgca c.*1339
(downstream sequence)
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