(used for variant description)
(last modified October 24, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001754.4 in the RUNX1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011402.2, covering RUNX1 transcript NM_001754.4.
(upstream sequence)
. g.940423
ctttgggcct c.-181
. . . . . . g.940483
cataaacaaccacagaaccacaagttgggtagcctggcagtgtcagaagtctgaacccag c.-121
. . . . . . g.940543
catagtggtcagcaggcaggacgaatcacactgaatgcaaaccacagggtttcgcagcgt c.-61
. | 02 . . . . . g.940812
g | gtaaaagaaatcattgagtcccccgccttcagaagagggtgcattttcaggaggaagcg c.-1
. . . . . | 03 g.1096750
ATGGCTTCAGACAGCATATTTGAGTCATTTCCTTCGTACCCACAGTGCTTCATGAGAG | AA c.60
M A S D S I F E S F P S Y P Q C F M R E | p.20
. . . | 04. . . g.1102638
TGCATACTTGGAATGAATCCTTCTAGAGACGTCCACG | ATGCCAGCACGAGCCGCCGCTTC c.120
C I L G M N P S R D V H D | A S T S R R F p.40
. . . . . . g.1102698
ACGCCGCCTTCCACCGCGCTGAGCCCAGGCAAGATGAGCGAGGCGTTGCCGCTGGGCGCC c.180
T P P S T A L S P G K M S E A L P L G A p.60
. . . . . . g.1102758
CCGGACGCCGGCGCTGCCCTGGCCGGCAAGCTGAGGAGCGGCGACCGCAGCATGGTGGAG c.240
P D A G A A L A G K L R S G D R S M V E p.80
. . . . . . g.1102818
GTGCTGGCCGACCACCCGGGCGAGCTGGTGCGCACCGACAGCCCCAACTTCCTCTGCTCC c.300
V L A D H P G E L V R T D S P N F L C S p.100
. . . . . | 05 . g.1109007
GTGCTGCCTACGCACTGGCGCTGCAACAAGACCCTGCCCATCGCTTTCAAG | GTGGTGGCC c.360
V L P T H W R C N K T L P I A F K | V V A p.120
. . . . . . g.1109067
CTAGGGGATGTTCCAGATGGCACTCTGGTCACTGTGATGGCTGGCAATGATGAAAACTAC c.420
L G D V P D G T L V T V M A G N D E N Y p.140
. . . . . . g.1109127
TCGGCTGAGCTGAGAAATGCTACCGCAGCCATGAAGAACCAGGTTGCAAGATTTAATGAC c.480
S A E L R N A T A A M K N Q V A R F N D p.160
. . | 06 . . . g.1130165
CTCAGGTTTGTCGGTCGAAGTGGAAGAG | GGAAAAGCTTCACTCTGACCATCACTGTCTTC c.540
L R F V G R S G R G | K S F T L T I T V F p.180
. . . . . . g.1130225
ACAAACCCACCGCAAGTCGCCACCTACCACAGAGCCATCAAAATCACAGTGGATGGGCCC c.600
T N P P Q V A T Y H R A I K I T V D G P p.200
. | 07 . . . . . g.1155157
CGAGAACCTCGAA | GACATCGGCAGAAACTAGATGATCAGACCAAGCCCGGGAGCTTGTCC c.660
R E P R R | H R Q K L D D Q T K P G S L S p.220
. . . . . . g.1155217
TTTTCCGAGCGGCTCAGTGAACTGGAGCAGCTGCGGCGCACAGCCATGAGGGTCAGCCCA c.720
F S E R L S E L E Q L R R T A M R V S P p.240
. . . . . . g.1155277
CACCACCCAGCCCCCACGCCCAACCCTCGTGCCTCCCTGAACCACTCCACTGCCTTTAAC c.780
H H P A P T P N P R A S L N H S T A F N p.260
. . | 08 . . . . g.1190284
CCTCAGCCTCAGAGTCAGATGCAGG | ATACAAGGCAGATCCAACCATCCCCACCGTGGTCC c.840
P Q P Q S Q M Q D | T R Q I Q P S P P W S p.280
. . . . . . g.1190344
TACGATCAGTCCTACCAATACCTGGGATCCATTGCCTCTCCTTCTGTGCACCCAGCAACG c.900
Y D Q S Y Q Y L G S I A S P S V H P A T p.300
. . . . . . g.1190404
CCCATTTCACCTGGACGTGCCAGCGGCATGACAACCCTCTCTGCAGAACTTTCCAGTCGA c.960
P I S P G R A S G M T T L S A E L S S R p.320
| 09. . . . . . g.1197154
CTCTCAA | CGGCACCCGACCTGACAGCGTTCAGCGACCCGCGCCAGTTCCCCGCGCTGCCC c.1020
L S T | A P D L T A F S D P R Q F P A L P p.340
. . . . . . g.1197214
TCCATCTCCGACCCCCGCATGCACTATCCAGGCGCCTTCACCTACTCCCCGACGCCGGTC c.1080
S I S D P R M H Y P G A F T Y S P T P V p.360
. . . . . . g.1197274
ACCTCGGGCATCGGCATCGGCATGTCGGCCATGGGCTCGGCCACGCGCTACCACACCTAC c.1140
T S G I G I G M S A M G S A T R Y H T Y p.380
. . . . . . g.1197334
CTGCCGCCGCCCTACCCCGGCTCGTCGCAAGCGCAGGGAGGCCCGTTCCAAGCCAGCTCG c.1200
L P P P Y P G S S Q A Q G G P F Q A S S p.400
. . . . . . g.1197394
CCCTCCTACCACCTGTACTACGGCGCCTCGGCCGGCTCCTACCAGTTCTCCATGGTGGGC c.1260
P S Y H L Y Y G A S A G S Y Q F S M V G p.420
. . . . . . g.1197454
GGCGAGCGCTCGCCGCCGCGCATCCTGCCGCCCTGCACCAACGCCTCCACCGGCTCCGCG c.1320
G E R S P P R I L P P C T N A S T G S A p.440
. . . . . . g.1197514
CTGCTCAACCCCAGCCTCCCGAACCAGAGCGACGTGGTGGAGGCCGAGGGCAGCCACAGC c.1380
L L N P S L P N Q S D V V E A E G S H S p.460
. . . . . . g.1197574
AACTCCCCCACCAACATGGCGCCCTCCGCGCGCCTGGAGGAGGCCGTGTGGAGGCCCTAC c.1440
N S P T N M A P S A R L E E A V W R P Y p.480
g.1197577
TGA c.1443
X p.480
. . . . . . g.1197637
ggcgccaggcctggcccggctgggccccgcgggccgccgccttcgcctccgggcgcgcgg c.*60
. . . . . . g.1197697
gcctcctgttcgcgacaagcccgccgggatcccgggccctgggcccggccaccgtcctgg c.*120
. . . . . . g.1197757
ggccgagggcgcccgacggccaggatctcgctgtaggtcaggcccgcgcagcctcctgcg c.*180
. . . . . . g.1197817
cccagaagcccacgccgccgccgtctgctggcgccccggccctcgcggaggtgtccgagg c.*240
. . . . . . g.1197877
cgacgcacctcgagggtgtccgccggccccagcacccaggggacgcgctggaaagcaaac c.*300
. . . . . . g.1197937
aggaagattcccggagggaaactgtgaatgcttctgatttagcaatgctgtgaataaaaa c.*360
. . . . . . g.1197997
gaaagattttatacccttgacttaactttttaaccaagttgtttattccaaagagtgtgg c.*420
. . . . . . g.1198057
aattttggttggggtggggggagaggagggatgcaactcgccctgtttggcatctaattc c.*480
. . . . . . g.1198117
ttatttttaatttttccgcaccttatcaattgcaaaatgcgtatttgcatttgggtggtt c.*540
. . . . . . g.1198177
tttatttttatatacgtttatataaatatatataaattgagcttgcttctttcttgcttt c.*600
. . . . . . g.1198237
gaccatggaaagaaatatgattcccttttctttaagttttatttaacttttcttttggac c.*660
. . . . . . g.1198297
ttttgggtagttgtttttttttgttttgttttgtttttttgagaaacagctacagctttg c.*720
. . . . . . g.1198357
ggtcatttttaactactgtattcccacaaggaatccccagatatttatgtatcttgatgt c.*780
. . . . . . g.1198417
tcagacatttatgtgttgataattttttaattatttaaatgtacttatattaagaaaaat c.*840
. . . . . . g.1198477
atcaagtactacattttcttttgttcttgatagtagccaaagttaaatgtatcacattga c.*900
. . . . . . g.1198537
agaaggctagaaaaaaagaatgagtaatgtgatcgcttggttatccagaagtattgttta c.*960
. . . . . . g.1198597
cattaaactccctttcatgttaatcaaacaagtgagtagctcacgcagcaacgtttttaa c.*1020
. . . . . . g.1198657
taggatttttagacactgagggtcactccaaggatcagaagtatggaattttctgccagg c.*1080
. . . . . . g.1198717
ctcaacaagggtctcatatctaacttcctccttaaaacagagaaggtcaatctagttcca c.*1140
. . . . . . g.1198777
gagggttgaggcaggtgccaataattacatctttggagaggatttgatttctgcccaggg c.*1200
. . . . . . g.1198837
atttgctcaccccaaggtcatctgataatttcacagatgctgtgtaacagaacacagcca c.*1260
. . . . . . g.1198897
aagtaaactgtgtaggggagccacatttacataggaaccaaatcaatgaatttaggggtt c.*1320
. . . . . . g.1198957
acgattatagcaatttaagggcccaccagaagcaggcctcgaggagtcaatttgcctctg c.*1380
. . . . . . g.1199017
tgtgcctcagtggagacaagtgggaaaacatggtcccacctgtgcgagaccccctgtcct c.*1440
. . . . . . g.1199077
gtgctgctcactcaacaacatctttgtgttgctttcaccaggctgagaccctaccctatg c.*1500
. . . . . . g.1199137
gggtatatgggcttttacctgtgcaccagtgtgacaggaaagattcatgtcactactgtc c.*1560
. . . . . . g.1199197
cgtggctacaattcaaaggtatccaatgtcgctgtaaattttatggcactatttttattg c.*1620
. . . . . . g.1199257
gaggatttggtcagaatgcagttgttgtacaactcataaatactaactgctgattttgac c.*1680
. . . . . . g.1199317
acatgtgtgctccaaatgatctggtggttatttaacgtacctcttaaaattcgttgaaac c.*1740
. . . . . . g.1199377
gatttcaggtcaactctgaagagtatttgaaagcaggacttcagaacagtgtttgatttt c.*1800
. . . . . . g.1199437
tattttataaatttaagcattcaaattaggcaaatctttggctgcaggcagcaaaaacag c.*1860
. . . . . . g.1199497
ctggacttatttaaaacaacttgtttttgagttttcttatatatatattgattatttgtt c.*1920
. . . . . . g.1199557
ttacacacatgcagtagcactttggtaagagttaaagagtaaagcagcttatgttgtcag c.*1980
. . . . . . g.1199617
gtcgttcttatctagagaagagctatagcagatctcggacaaactcagaatatattcact c.*2040
. . . . . . g.1199677
ttcatttttgacaggattccctccacaactcagtttcatatattattccgtattacattt c.*2100
. . . . . . g.1199737
ttgcagctaaattaccataaaatgtcagcaaatgtaaaaatttaatttctgaaaagcacc c.*2160
. . . . . . g.1199797
attagcccatttcccccaaattaaacgtaaatgttttttttcagcacatgttaccatgtc c.*2220
. . . . . . g.1199857
tgacctgcaaaaatgctggagaaaaatgaaggaaaaaattatgtttttcagtttaattct c.*2280
. . . . . . g.1199917
gttaactgaagatattccaactcaaaaccagcctcatgctctgattagataatcttttac c.*2340
. . . . . . g.1199977
attgaacctttactctcaaagccatgtgtggagggggcttgtcactattgtaggctcact c.*2400
. . . . . . g.1200037
ggattggtcatttagagtttcacagactcttaccagcatatatagtatttaattgtttca c.*2460
. . . . . . g.1200097
aaaaaaatcaaactgtagttgttttggcgataggtctcacgcaacacatttttgtatgtg c.*2520
. . . . . . g.1200157
tgtgtgtgtgcgtgtgtgtgtgtgtgtgtgaaaaattgcattcattgacttcaggtagat c.*2580
. . . . . . g.1200217
taaggtatctttttattcattgccctcaggaaagttaaggtatcaatgagacccttaagc c.*2640
. . . . . . g.1200277
caatcatgtaataactgcatgtgtctggtccaggagaagtattgaataagccatttctac c.*2700
. . . . . . g.1200337
tgcttactcatgtccctatttatgatttcaacatggatacatatttcagttctttctttt c.*2760
. . . . . . g.1200397
tctcactatctgaaaatacatttccctccctctcttccccccaatatctccctttttttc c.*2820
. . . . . . g.1200457
tctcttcctctatcttccaaaccccactttctccctcctccttttcctgtgttctcttaa c.*2880
. . . . . . g.1200517
gcagatagcacatacccccacccagtaccaaatttcagaacacaagaaggtccagttctt c.*2940
. . . . . . g.1200577
cccccttcacataaaggaacatggtttgtcagcctttctcctgtttatgggtttcttcca c.*3000
. . . . . . g.1200637
gcagaacagagacattgccaaccatattggatctgcttgctgtccaaaccagcaaacttt c.*3060
. . . . . . g.1200697
cctgggcaaatcacaatcagtgagtaaatagacagcctttctgctgccttgggtttctgt c.*3120
. . . . . . g.1200757
gcagataaacagaaatgctctgattagaaaggaaatgaatggttccactcaaatgtcctg c.*3180
. . . . . . g.1200817
caatttaggattgcagatttctgccttgaaatacctgtttctttgggacattccgtcctg c.*3240
. . . . . . g.1200877
atgatttttatttttgttggtttttatttttggggggaatgacatgtttgggtcttttat c.*3300
. . . . . . g.1200937
acatgaaaatttgtttgacaataatctcacaaaacatattttacatctgaacaaaatgcc c.*3360
. . . . . . g.1200997
tttttgtttaccgtagcgtatacatttgttttgggatttttgtgtgtttgttgggaattt c.*3420
. . . . . . g.1201057
tgtttttagccaggtcagtattgatgaggctgatcatttggctctttttttccttccaga c.*3480
. . . . . . g.1201117
agagttgcatcaacaaagttaattgtatttatgtatgtaaatagattttaagcttcatta c.*3540
. . . . . . g.1201177
taaaatattgttaatgcctataactttttttcaatttttttgtgtgtgtttctaaggact c.*3600
. . . . . . g.1201237
ttttcttaggtttgctaaatactgtagggaaaaaaatgcttctttctactttgtttattt c.*3660
. . . . . . g.1201297
tagactttaaaatgagctacttcttattcacttttgtaaacagctaatagcatggttcca c.*3720
. . . . . . g.1201357
attttttttaagttcactttttttgttctaggggaaatgaatgtgcaaaaaaagaaaaag c.*3780
. . . . . . g.1201417
aactgttggttatttgtgttattctggatgtataaaaatcaatggaaaaaaataaacttt c.*3840
. . . . . . g.1201477
caaattgaaatgacggtataacacatctactgaaaaagcaacgggaaatgtggtcctatt c.*3900
. . . . . . g.1201537
taagccagcccccacctagggtctatttgtgtggcagttattgggtttggtcacaaaaca c.*3960
. . . . . . g.1201597
tcctgaaaattcgtgcgtgggcttctttctccctggtacaaacgtatggaatgcttctta c.*4020
. . . . . . g.1201657
aaggggaactgtcaagctggtgtcttcagccagatgacatgagagaatatcccagaaccc c.*4080
. . . . . . g.1201717
tctctccaaggtgtttctagatagcacaggagagcaggcactgcactgtccacagtccac c.*4140
. . . . . . g.1201777
ggtacacagtcgggtgggccgcctcccctctcctgggagcattcgtcgtgcccagcctga c.*4200
. . . . . . g.1201837
gcagggcagctggactgctgctgttcaggagccaccagagccttcctctctttgtaccac c.*4260
. . . . . . g.1201897
agtttcttctgtaaatccagtgttacaatcagtgtgaatggcaaataaacagtttgacaa c.*4320
. g.1201911
gtacatacaccata c.*4334
(downstream sequence)
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