(used for variant description)
(last modified September 2, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_007315.3 in the STAT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008294.1, covering STAT1 transcript NM_007315.3.
(upstream sequence)
. . g.5028
gctgagcgcggagccgcccggtgattgg c.-361
. . . . . . g.5088
tgggggcggaagggggccgggcgccagcgctgccttttctcctgccgggtagtttcgctt c.-301
. . . . . . g.5148
tcctgcgcagagtctgcggaggggctcggctgcaccggggggatcgcgcctggcagaccc c.-241
. . . . . . g.5208
cagaccgagcagaggcgacccagcgcgctcgggagaggctgcaccgccgcgcccccgcct c.-181
. . . | 02 . . . g.5607
agcccttccggatcctgcgcgcaga | aaagtttcatttgctgtatgccatcctcgagagct c.-121
. . . . . . g.5667
gtctaggttaacgttcgcactctgtgtatataacctcgacagtcttggcacctaacgtgc c.-61
. . . . . . | 03 g.9247
tgtgcgtagctgctcctttggttgaatccccaggcccttgttggggcacaaggtggcag | g c.-1
. . . . . . g.9307
ATGTCTCAGTGGTACGAACTTCAGCAGCTTGACTCAAAATTCCTGGAGCAGGTTCACCAG c.60
M S Q W Y E L Q Q L D S K F L E Q V H Q p.20
. . . . . . g.9367
CTTTATGATGACAGTTTTCCCATGGAAATCAGACAGTACCTGGCACAGTGGTTAGAAAAG c.120
L Y D D S F P M E I R Q Y L A Q W L E K p.40
| 04 . . . . . g.10195
CAAGACTG | GGAGCACGCTGCCAATGATGTTTCATTTGCCACCATCCGTTTTCATGACCTC c.180
Q D W | E H A A N D V S F A T I R F H D L p.60
. . . . . . g.10255
CTGTCACAGCTGGATGATCAATATAGTCGCTTTTCTTTGGAGAATAACTTCTTGCTACAG c.240
L S Q L D D Q Y S R F S L E N N F L L Q p.80
. . . | 05 . . . g.11616
CATAACATAAGGAAAAGCAAGCGTAATCTTCAG | GATAATTTTCAGGAAGACCCAATCCAG c.300
H N I R K S K R N L Q | D N F Q E D P I Q p.100
. . . . . . g.11676
ATGTCTATGATCATTTACAGCTGTCTGAAGGAAGAAAGGAAAATTCTGGAAAACGCCCAG c.360
M S M I I Y S C L K E E R K I L E N A Q p.120
. | 06 . . . . . g.18135
AGATTTAATCAG | GCTCAGTCGGGGAATATTCAGAGCACAGTGATGTTAGACAAACAGAAA c.420
R F N Q | A Q S G N I Q S T V M L D K Q K p.140
. . . . | 07 . . g.19564
GAGCTTGACAGTAAAGTCAGAAATGTGAAGGACAAGGTTATG | TGTATAGAGCATGAAATC c.480
E L D S K V R N V K D K V M | C I E H E I p.160
. . . . . . g.19624
AAGAGCCTGGAAGATTTACAAGATGAATATGACTTCAAATGCAAAACCTTGCAGAACAGA c.540
K S L E D L Q D E Y D F K C K T L Q N R p.180
| 08 . . . . . . g.21001
G | AACACGAGACCAATGGTGTGGCAAAGAGTGATCAGAAACAAGAACAGCTGTTACTCAAG c.600
E | H E T N G V A K S D Q K Q E Q L L L K p.200
. . . | 09 . . . g.21270
AAGATGTATTTAATGCTTGACAATAAGAGAAAG | GAAGTAGTTCACAAAATAATAGAGTTG c.660
K M Y L M L D N K R K | E V V H K I I E L p.220
. . . . . . g.21330
CTGAATGTCACTGAACTTACCCAGAATGCCCTGATTAATGATGAACTAGTGGAGTGGAAG c.720
L N V T E L T Q N A L I N D E L V E W K p.240
. . . . . . g.21390
CGGAGACAGCAGAGCGCCTGTATTGGGGGGCCGCCCAATGCTTGCTTGGATCAGCTGCAG c.780
R R Q Q S A C I G G P P N A C L D Q L Q p.260
| 10 . . . . . . g.24086
AACTG | GTTCACTATAGTTGCGGAGAGTCTGCAGCAAGTTCGGCAGCAGCTTAAAAAGTTG c.840
N W | F T I V A E S L Q Q V R Q Q L K K L p.280
. . . . . . g.24146
GAGGAATTGGAACAGAAATACACCTACGAACATGACCCTATCACAAAAAACAAACAAGTG c.900
E E L E Q K Y T Y E H D P I T K N K Q V p.300
. . . . | 11 . . g.27946
TTATGGGACCGCACCTTCAGTCTTTTCCAGCAGCTCATTCAGAG | CTCGTTTGTGGTGGAA c.960
L W D R T F S L F Q Q L I Q S | S F V V E p.320
. . . . . . g.28006
AGACAGCCCTGCATGCCAACGCACCCTCAGAGGCCGCTGGTCTTGAAGACAGGGGTCCAG c.1020
R Q P C M P T H P Q R P L V L K T G V Q p.340
. | 12. . . . . g.29619
TTCACTGTGAAGTTGAG | ACTGTTGGTGAAATTGCAAGAGCTGAATTATAATTTGAAAGTC c.1080
F T V K L R | L L V K L Q E L N Y N L K V p.360
. | 13. . . | 14. . g.32316
AAAGTCTTATTTGATAA | AGATGTGAATGAGAGAAATACAGTAAAAGG | ATTTAGGAAGTTC c.1140
K V L F D K | D V N E R N T V K G | F R K F p.380
. . . . . . g.32376
AACATTTTGGGCACGCACACAAAAGTGATGAACATGGAGGAGTCCACCAATGGCAGTCTG c.1200
N I L G T H T K V M N M E E S T N G S L p.400
. . | 15 . . . . g.33629
GCGGCTGAATTTCGGCACCTG | CAATTGAAAGAACAGAAAAATGCTGGCACCAGAACGAAT c.1260
A A E F R H L | Q L K E Q K N A G T R T N p.420
| 16 . . . . . . g.34914
GAG | GGTCCTCTCATCGTTACTGAAGAGCTTCACTCCCTTAGTTTTGAAACCCAATTGTGC c.1320
E | G P L I V T E E L H S L S F E T Q L C p.440
. . | 17. . . . g.35543
CAGCCTGGTTTGGTAATTGACCTCGAG | ACGACCTCTCTGCCCGTTGTGGTGATCTCCAAC c.1380
Q P G L V I D L E | T T S L P V V V I S N p.460
. . . . . . g.35603
GTCAGCCAGCTCCCGAGCGGTTGGGCCTCCATCCTTTGGTACAACATGCTGGTGGCGGAA c.1440
V S Q L P S G W A S I L W Y N M L V A E p.480
| 18 . . . . . . g.36786
CCCAGG | AATCTGTCCTTCTTCCTGACTCCACCATGTGCACGATGGGCTCAGCTTTCAGAA c.1500
P R | N L S F F L T P P C A R W A Q L S E p.500
. . . . . . g.36846
GTGCTGAGTTGGCAGTTTTCTTCTGTCACCAAAAGAGGTCTCAATGTGGACCAGCTGAAC c.1560
V L S W Q F S S V T K R G L N V D Q L N p.520
. . | 19 . . . . g.38619
ATGTTGGGAGAGAAGCTTCTTG | GTCCTAACGCCAGCCCCGATGGTCTCATTCCGTGGACG c.1620
M L G E K L L G | P N A S P D G L I P W T p.540
. | 20 . . . . . g.39432
AGGTTTTGTAAG | GAAAATATAAATGATAAAAATTTTCCCTTCTGGCTTTGGATTGAAAGC c.1680
R F C K | E N I N D K N F P F W L W I E S p.560
. . . . | 21. . g.40262
ATCCTAGAACTCATTAAAAAACACCTGCTCCCTCTCTGGAATGATGG | GTGCATCATGGGC c.1740
I L E L I K K H L L P L W N D G | C I M G p.580
. . . . . . g.40322
TTCATCAGCAAGGAGCGAGAGCGTGCCCTGTTGAAGGACCAGCAGCCGGGGACCTTCCTG c.1800
F I S K E R E R A L L K D Q Q P G T F L p.600
. . . . . . g.40382
CTGCGGTTCAGTGAGAGCTCCCGGGAAGGGGCCATCACATTCACATGGGTGGAGCGGTCC c.1860
L R F S E S S R E G A I T F T W V E R S p.620
. | 22 . . . . . g.42272
CAGAACGGAGGCG | AACCTGACTTCCATGCGGTTGAACCCTACACGAAGAAAGAACTTTCT c.1920
Q N G G E | P D F H A V E P Y T K K E L S p.640
. . . . . . g.42332
GCTGTTACTTTCCCTGACATCATTCGCAATTACAAAGTCATGGCTGCTGAGAATATTCCT c.1980
A V T F P D I I R N Y K V M A A E N I P p.660
. . . . . . g.42392
GAGAATCCCCTGAAGTATCTGTATCCAAATATTGACAAAGACCATGCCTTTGGAAAGTAT c.2040
E N P L K Y L Y P N I D K D H A F G K Y p.680
. | 23 . . . . g.43404
TACTCCAGGCCAAAGGAAG | CACCAGAGCCAATGGAACTTGATGGCCCTAAAGGAACTGGA c.2100
Y S R P K E A | P E P M E L D G P K G T G p.700
. . . | 24 . . . g.44343
TATATCAAGACTGAGTTGATTTCTGTGTCTGAAGT | TCACCCTTCTAGACTTCAGACCACA c.2160
Y I K T E L I S V S E V | H P S R L Q T T p.720
. . . . . . g.44403
GACAACCTGCTCCCCATGTCTCCTGAGGAGTTTGACGAGGTGTCTCGGATAGTGGGCTCT c.2220
D N L L P M S P E E F D E V S R I V G S p.740
. | 25 . g.48575
GTAGAATTCGACAGTATG | ATGAACACAGTATAG c.2253
V E F D S M | M N T V X p.750
. . . . . . g.48635
agcatgaatttttttcatcttctctggcgacagttttccttctcatctgtgattccctcc c.*60
. . . . . . g.48695
tgctactctgttccttcacatcctgtgtttctagggaaatgaaagaaaggccagcaaatt c.*120
. . . . . . g.48755
cgctgcaacctgttgatagcaagtgaatttttctctaactcagaaacatcagttactctg c.*180
. . . . . . g.48815
aagggcatcatgcatcttactgaaggtaaaattgaaaggcattctctgaagagtgggttt c.*240
. . . . . . g.48875
cacaagtgaaaaacatccagatacacccaaagtatcaggacgagaatgagggtcctttgg c.*300
. . . . . . g.48935
gaaaggagaagttaagcaacatctagcaaatgttatgcataaagtcagtgcccaactgtt c.*360
. . . . . . g.48995
ataggttgttggataaatcagtggttatttagggaactgcttgacgtaggaacggtaaat c.*420
. . . . . . g.49055
ttctgtgggagaattcttacatgttttctttgctttaagtgtaactggcagttttccatt c.*480
. . . . . . g.49115
ggtttacctgtgaaatagttcaaagccaagtttatatacaattatatcagtcctctttca c.*540
. . . . . . g.49175
aaggtagccatcatggatctggtagggggaaaatgtgtattttattacatctttcacatt c.*600
. . . . . . g.49235
ggctatttaaagacaaagacaaattctgtttcttgagaagagaatattagctttactgtt c.*660
. . . . . . g.49295
tgttatggcttaatgacactagctaatatcaatagaaggatgtacatttccaaattcaca c.*720
. . . . . . g.49355
agttgtgtttgatatccaaagctgaatacattctgctttcatcttggtcacatacaatta c.*780
. . . . . . g.49415
tttttacagttctcccaagggagttaggctattcacaaccactcattcaaaagttgaaat c.*840
. . . . . . g.49475
taaccatagatgtagataaactcagaaatttaattcatgtttcttaaatgggctactttg c.*900
. . . . . . g.49535
tcctttttgttattagggtggtatttagtctattagccacaaaattgggaaaggagtaga c.*960
. . . . . . g.49595
aaaagcagtaactgacaacttgaataatacaccagagataatatgagaatcagatcattt c.*1020
. . . . . . g.49655
caaaactcatttcctatgtaactgcattgagaactgcatatgtttcgctgatatatgtgt c.*1080
. . . . . . g.49715
ttttcacatttgcgaatggttccattctctctcctgtactttttccagacacttttttga c.*1140
. . . . . . g.49775
gtggatgatgtttcgtgaagtatactgtatttttacctttttccttccttatcactgaca c.*1200
. . . . . . g.49835
caaaaagtagattaagagatgggtttgacaaggttcttcccttttacatactgctgtcta c.*1260
. . . . . . g.49895
tgtggctgtatcttgtttttccactactgctaccacaactatattatcatgcaaatgctg c.*1320
. . . . . . g.49955
tattcttctttggtggagataaagatttcttgagttttgttttaaaattaaagctaaagt c.*1380
. . . . . . g.50015
atctgtattgcattaaatataatatgcacacagtgctttccgtggcactgcatacaatct c.*1440
. . . . . . g.50075
gaggcctcctctctcagtttttatatagatggcgagaacctaagtttcagttgattttac c.*1500
. . . . . . g.50135
aattgaaatgactaaaaaacaaagaagacaacattaaaacaatattgtttctaattgctg c.*1560
. . . . . . g.50195
aggtttagctgtcagttctttttgccctttgggaattcggcatggtttcattttactgca c.*1620
. . . . g.50242
ctagccaagagactttacttttaagaagtattaaaattctaaaattc c.*1667
(downstream sequence)
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