(used for variant description)
(last modified October 2, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_014712.1 in the SETD1A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering SETD1A transcript NM_014712.1.
(upstream sequence)
. . g.5026
atcctcagaattcctcgggtccctcg c.-661
. . . . . . g.5086
atactcggctgaaaattctcatcggactctgagaggagcgctgggctggaggcattttcc c.-601
. . . . . . g.5146
ccagggacagaagcgggctattctctcacttgggccagtaagaaaaatccaaaaaaagtt c.-541
. . . . . . g.5206
gtcgactctgccagcagggattggctaacgggccgttattttcttgactccaccaaggcg c.-481
. . . . . . g.5266
gatgaaggggaggctacggctgaggccgggaacagtggcgaatctgcagcctctcagaat c.-421
. . . . . . g.5326
ttggcagtgcaaggaagggacggggaagagaagcaaagcggcgcgcatcctgtccagcga c.-361
. . . . . . g.5386
ttcgccccgcccgcccggtgaatctgcgtctgcagaacgcgccactgaaggttccccagc c.-301
. . . . . . g.5446
gctggctggcctcctcccctccgccccgccccttttcctcagggactagtcgcagctttc c.-241
. . . . . . g.5506
gtcgccgccgattcgtcaaggtcccgggccgcagcatctagatcgtcgtggcgaagccga c.-181
. . . . . . g.5566
ctctccgggggatgcggccaatctccaagctccctgggccgcaacttccgagcctcccag c.-121
. . . . . . g.5626
ggcgccggccgaggcgaagccgctaccctcggccccgtgggtcccccggcagcgcctgtg c.-61
. . . . . | 02 . g.6438
gcgaaagtgcgaatgcagaccctgtgcccgctgggcctcgcgcag | tgtaaatgagcaaag c.-1
. . . . . . g.6498
ATGGATCAGGAAGGTGGGGGAGATGGGCAGAAGGCCCCGAGCTTCCAGTGGCGGAACTAC c.60
M D Q E G G G D G Q K A P S F Q W R N Y p.20
. . . . . . g.6558
AAGCTCATCGTGGATCCTGCCTTGGACCCTGCCCTGCGCAGGCCTTCTCAGAAGGTGTAC c.120
K L I V D P A L D P A L R R P S Q K V Y p.40
. . . | 03 . . . g.6827
CGCTATGATGGAGTCCACTTCAGTGTCAAC | GACTCAAAGTATATACCAGTCGAAGACCTC c.180
R Y D G V H F S V N | D S K Y I P V E D L p.60
. . . . . . g.6887
CAAGACCCCCGTTGCCATGTCAGGTCCAAAAACAGAGACTTTTCCCTCCCAGTCCCTAAG c.240
Q D P R C H V R S K N R D F S L P V P K p.80
| 04 . . . . . . g.9027
TTTAAG | CTGGACGAGTTCTATATTGGACAGATTCCACTGAAGGAAGTGACTTTTGCAAGG c.300
F K | L D E F Y I G Q I P L K E V T F A R p.100
. . . . . . g.9087
CTGAATGACAACGTGCGGGAGACCTTCCTGAAGGATATGTGCCGTAAGTACGGTGAGGTG c.360
L N D N V R E T F L K D M C R K Y G E V p.120
. . . . . . g.9147
GAAGAGGTAGAGATCCTCCTTCACCCCCGTACGCGCAAGCACCTGGGCCTGGCCCGTGTG c.420
E E V E I L L H P R T R K H L G L A R V p.140
. . . . . . g.9207
CTCTTCACCAGCACTCGGGGCGCCAAGGAAACGGTCAAAAACCTCCACCTTACCTCCGTC c.480
L F T S T R G A K E T V K N L H L T S V p.160
. . . | 05. . . g.11162
ATGGGCAACATCATCCATGCCCAGCTTGACATCAAAG | GACAACAACGAATGAAATACTAT c.540
M G N I I H A Q L D I K G | Q Q R M K Y Y p.180
. . . . . . g.11222
GAACTAATTGTCAATGGCTCCTACACCCCTCAGACTGTGCCCACTGGGGGCAAGGCCCTG c.600
E L I V N G S Y T P Q T V P T G G K A L p.200
. . . | 06 . . g.11821
AGTGAGAAGTTCCAAGGCTCGGGTGCAGCCACTGAGACG | GCCGAATCCCGCCGCCGCTCT c.660
S E K F Q G S G A A T E T | A E S R R R S p.220
. . . . . . g.11881
TCCTCTGACACAGCTGCCTACCCAGCAGGCACCACTGCGGTGGGCACTCCTGGCAACGGC c.720
S S D T A A Y P A G T T A V G T P G N G p.240
. . . . . . g.11941
ACCCCCTGCTCCCAGGACACAAGCTTCTCCAGCAGCCGACAAGATACCCCATCTTCCTTT c.780
T P C S Q D T S F S S S R Q D T P S S F p.260
. . . . . . g.12001
GGCCAGTTCACACCTCAGTCCTCCCAAGGAACCCCCTACACGTCTCGGGGCAGCACCCCC c.840
G Q F T P Q S S Q G T P Y T S R G S T P p.280
. . | 07 . . . g.12349
TACTCTCAGGACTCTGCCTACTCCAGCAG | CACCACTTCAACCTCCTTCAAGCCCCGGCGG c.900
Y S Q D S A Y S S S | T T S T S F K P R R p.300
. . . . . . g.12409
TCAGAGAACAGCTACCAAGATGCCTTTTCCCGCCGCCACTTCTCTGCATCTTCAGCCTCC c.960
S E N S Y Q D A F S R R H F S A S S A S p.320
. . . . . . g.12469
ACAACCGCCTCCACGGCCATCGCCGCCACCACTGCAGCCACTGCCTCATCCTCCGCCTCT c.1020
T T A S T A I A A T T A A T A S S S A S p.340
. . . . . . g.12529
TCCTCCTCATTGTCCTCGTCCTCCTCGTCATCCTCTTCCTCCTCGTCCTCTCAGTTTCGT c.1080
S S S L S S S S S S S S S S S S S Q F R p.360
. . . . . . g.12589
AGTTCTGATGCAAACTACCCAGCGTATTATGAAAGCTGGAATCGCTACCAGCGCCATACT c.1140
S S D A N Y P A Y Y E S W N R Y Q R H T p.380
. . . . . . g.12649
TCCTACCCACCACGCCGGGCCACACGGGAGGAACCCCCTGGAGCCCCTTTTGCTGAAAAT c.1200
S Y P P R R A T R E E P P G A P F A E N p.400
. . . . . . g.12709
ACAGCTGAGCGCTTCCCACCTTCTTACACCTCCTACCTGCCCCCCGAGCCCAGCCGGCCC c.1260
T A E R F P P S Y T S Y L P P E P S R P p.420
. . . . . . g.12769
ACCGACCAGGACTACCGGCCTCCTGCCTCAGAGGCTCCACCCCCGGAGCCTCCAGAACCT c.1320
T D Q D Y R P P A S E A P P P E P P E P p.440
. . . . . . g.12829
GGTGGAGGCGGGGGTGGAGGAGGGCCCAGCCCTGAGAGAGAAGAAGTTCGGACTTCCCCC c.1380
G G G G G G G G P S P E R E E V R T S P p.460
. . . . . . g.12889
CGCCCAGCCTCCCCTGCCCGCTCTGGCTCCCCAGCCCCGGAGACCACCAATGAGAGTGTG c.1440
R P A S P A R S G S P A P E T T N E S V p.480
. . . . . . g.12949
CCCTTCGCCCAGCACAGCAGCCTGGATTCCCGCATCGAGATGCTGCTGAAGGAGCAGCGC c.1500
P F A Q H S S L D S R I E M L L K E Q R p.500
. . . . . . g.13009
TCCAAGTTTTCCTTCTTGGCCTCTGACACAGAGGAGGAGGAAGAGAACAGCAGCATGGTC c.1560
S K F S F L A S D T E E E E E N S S M V p.520
. . . . . . g.13069
CTTGGGGCCAGAGATACAGGGAGTGAGGTGCCTTCTGGGTCAGGGCATGGGCCCTGCACA c.1620
L G A R D T G S E V P S G S G H G P C T p.540
. . . . . . g.13129
CCCCCTCCGGCCCCAGCTAATTTTGAGGATGTGGCACCTACAGGGAGCGGGGAGCCAGGG c.1680
P P P A P A N F E D V A P T G S G E P G p.560
. . . | 08 . . g.13328
GCTACCCGGGAGTCTCCCAAGGCAAATGGACAGAACCAG | GCTTCTCCATGCTCTTCTGGA c.1740
A T R E S P K A N G Q N Q | A S P C S S G p.580
. . . . . . g.13388
GACGACATGGAGATCTCCGACGACGACCGGGGTGGCTCACCCCCTCCGGCCCCGACGCCC c.1800
D D M E I S D D D R G G S P P P A P T P p.600
. . . . . . g.13448
CCTCAGCAGCCTCCGCCACCTCCCCCTCCCCCGCCGCCTCCTCCTCCCTACCTGGCGTCC c.1860
P Q Q P P P P P P P P P P P P P Y L A S p.620
. . . . . . g.13508
CTTCCTCTTGGTTATCCTCCCCACCAACCTGCCTACCTCCTCCCACCCAGACCTGATGGG c.1920
L P L G Y P P H Q P A Y L L P P R P D G p.640
. . . . . . g.13568
CCGCCGCCCCCTGAGTACCCCCCACCTCCTCCACCACCCCCGCACATCTATGACTTTGTG c.1980
P P P P E Y P P P P P P P P H I Y D F V p.660
. . . . . . g.13628
AACTCCTTGGAGCTCATGGACCGACTTGGGGCTCAGTGGGGAGGGATGCCCATGTCCTTC c.2040
N S L E L M D R L G A Q W G G M P M S F p.680
. . . . . . g.13688
CAGATGCAGACCCAGATGTTAACTCGGCTCCATCAGCTGCGGCAGGGCAAGGGATTGATT c.2100
Q M Q T Q M L T R L H Q L R Q G K G L I p.700
. . . . . . g.13748
GCCGCCTCAGCTGGCCCCCCCGGTGGGGCCTTTGGGGAGGCCTTCCTCCCGTTTCCACCC c.2160
A A S A G P P G G A F G E A F L P F P P p.720
. . . . . . g.13808
CCGCAGGAGGCAGCCTACGGCTTGCCGTATGCTCTATATGCACAGGGGCAGGAGGGCAGA c.2220
P Q E A A Y G L P Y A L Y A Q G Q E G R p.740
. . . . . . g.13868
GGGGCATACTCACGGGAGGCCTACCACCTGCCCATGCCAATGGCAGCCGAGCCCCTGCCC c.2280
G A Y S R E A Y H L P M P M A A E P L P p.760
. . . . . . g.13928
TCCTCCTCAGTCTCGGGAGAGGAGGCCCGGCTGCCACCCAGGGAAGAAGCAGAGCTGGCA c.2340
S S S V S G E E A R L P P R E E A E L A p.780
. . . . . . g.13988
GAGGGCAAGACCCTCCCGACAGCAGGCACCGTGGGCCGTGTGCTCGCCATGCTGGTCCAG c.2400
E G K T L P T A G T V G R V L A M L V Q p.800
. . . . . . g.14048
GAGATGAAGAGCATCATGCAGCGAGACCTCAACCGCAAGATGGTGGAGAACGTGGCCTTC c.2460
E M K S I M Q R D L N R K M V E N V A F p.820
. . . . | 09 . . g.14605
GGAGCCTTTGACCAGTGGTGGGAGAGCAAGGAGGAGAAGGCCAAG | CCATTCCAGAACGCG c.2520
G A F D Q W W E S K E E K A K | P F Q N A p.840
. . . . . . g.14665
GCCAAGCAGCAAGCCAAGGAGGAGGATAAAGAGAAGACGAAGCTGAAGGAGCCTGGCCTG c.2580
A K Q Q A K E E D K E K T K L K E P G L p.860
. . . . . . g.14725
CTGTCCCTCGTGGACTGGGCCAAGAGCGGGGGCACTACGGGCATCGAGGCTTTCGCCTTT c.2640
L S L V D W A K S G G T T G I E A F A F p.880
. . . . | 10 . . g.15225
GGGTCAGGGCTGAGAGGGGCCCTGCGGCTGCCTTCATTCAAG | GTAAAGCGGAAAGAGCCA c.2700
G S G L R G A L R L P S F K | V K R K E P p.900
. . . . . . g.15285
TCGGAAATTTCCGAGGCCAGTGAGGAAAAGAGGCCTCGTCCCTCCACTCCTGCTGAGGAA c.2760
S E I S E A S E E K R P R P S T P A E E p.920
. | 11 . . . . . g.17061
GATGAAGACG | ACCCTGAACAAGAGAAGGAGGCTGGAGAGCCAGGACGTCCGGGGACCAAG c.2820
D E D D | P E Q E K E A G E P G R P G T K p.940
. . . . . . g.17121
CCCCCGAAGCGGGACGAAGAGCGAGGCAAGACCCAGGGCAAGCACCGCAAGTCCTTTGCT c.2880
P P K R D E E R G K T Q G K H R K S F A p.960
. . . . | 12 . g.17320
CTGGACAGCGAAGGGGAGGAGGCATCCCAGGAGTCCTCCTCGGAGAAG | GATGAGGAGGAT c.2940
L D S E G E E A S Q E S S S E K | D E E D p.980
. . . . . . g.17380
GACGAGGAAGATGAGGAAGATGAAGATCGAGAGGAAGCTGTGGATACCACAAAGAAGGAG c.3000
D E E D E E D E D R E E A V D T T K K E p.1000
. | 13 . . . . . g.19128
ACAGAGGTGTCGGATG | GCGAGGACGAGGAAAGCGATTCGTCTTCCAAATGTTCTCTGTAT c.3060
T E V S D G | E D E E S D S S S K C S L Y p.1020
. . . . . . g.19188
GCTGACTCAGATGGCGAAAATGACAGCACATCAGACTCCGAGAGCAGCAGCTCTTCCAGC c.3120
A D S D G E N D S T S D S E S S S S S S p.1040
. . . . . . g.19248
TCCTCATCCTCCTCCTCCTCCTCGTCCTCATCCTCCTCGTCCTCTTCATCCTCTGAGTCC c.3180
S S S S S S S S S S S S S S S S S S E S p.1060
. . . . . . g.19308
TCCTCTGAAGATGAAGAGGAAGAGGAGCGGCCAGCAGCCCTTCCCTCAGCCTCCCCGCCC c.3240
S S E D E E E E E R P A A L P S A S P P p.1080
. . . . . . g.19368
CCCAGAGAAGTCCCAGTGCCCACGCCAGCACCTGTGGAGGTGCCAGTGCCGGAAAGGGTT c.3300
P R E V P V P T P A P V E V P V P E R V p.1100
. . . . . | 14 g.26853
GCAGGCTCCCCAGTCACACCCCTGCCCGAACAGGAGGCGTCTCCAGCAAGGCCTGCAG | GC c.3360
A G S P V T P L P E Q E A S P A R P A G | p.1120
. . . . . . g.26913
CCCACGGAGGAGTCACCCCCCAGTGCGCCTCTGCGTCCCCCAGAACCACCTGCTGGGCCC c.3420
P T E E S P P S A P L R P P E P P A G P p.1140
. . . . . . g.26973
CCGGCCCCTGCCCCACGCCCCGATGAGCGTCCCTCTTCTCCCATCCCCCTCCTGCCCCCA c.3480
P A P A P R P D E R P S S P I P L L P P p.1160
. . . . . . g.27033
CCCAAGAAACGCCGGAAAACTGTCTCCTTCTCTGCCATCGAGGTGGTGCCAGCCCCGGAG c.3540
P K K R R K T V S F S A I E V V P A P E p.1180
. . . . . . g.27093
CCCCCTCCAGCCACACCGCCGCAGGCCAAGTTTCCCGGCCCAGCCTCCCGCAAGGCTCCC c.3600
P P P A T P P Q A K F P G P A S R K A P p.1200
. . . . . . g.27153
CGGGGCGTGGAGCGGACCATCCGCAACCTGCCCCTGGACCACGCATCTCTGGTCAAGAGT c.3660
R G V E R T I R N L P L D H A S L V K S p.1220
. . . . . . g.27213
TGGCCCGAGGAGGTGTCCCGAGGAGGCCGGAGCCGGGCTGGAGGCCGAGGCCGCCTCACC c.3720
W P E E V S R G G R S R A G G R G R L T p.1240
. . . . . . g.27273
GAGGAAGAGGAGGCTGAGCCAGGGACAGAGGTGGACCTGGCGGTCCTGGCCGACCTGGCC c.3780
E E E E A E P G T E V D L A V L A D L A p.1260
. . . . . . g.27333
CTGACCCCTGCCCGGCGCGGGCTGCCTGCCCTGCCTGCTGTTGAAGACTCAGAGGCCACA c.3840
L T P A R R G L P A L P A V E D S E A T p.1280
. . . . . . g.27393
GAGACATCGGACGAGGCCGAGCGCCCTAGGCCCCTGCTCAGCCACATCCTCCTGGAGCAC c.3900
E T S D E A E R P R P L L S H I L L E H p.1300
. . . . . . g.27453
AACTATGCCCTGGCCGTCAAGCCCACGCCCCCTGCGCCAGCCCTGCGGCCCCCGGAGCCA c.3960
N Y A L A V K P T P P A P A L R P P E P p.1320
. . . . . . g.27513
GTGCCCGCACCCGCCGCCCTCTTCAGTTCCCCAGCTGATGAGGTCCTGGAGGCCCCCGAG c.4020
V P A P A A L F S S P A D E V L E A P E p.1340
. . . . . . g.27573
GTGGTGGTGGCTGAGGCGGAGGAGCCCAAGCCGCAGCAACTGCAGCAGCAGCGGGAGGAG c.4080
V V V A E A E E P K P Q Q L Q Q Q R E E p.1360
. . . . . . g.27633
GGCGAAGAGGAGGGGGAGGAAGAGGGGGAGGAAGAGGAGGAGGAGTCCTCTGACAGCAGC c.4140
G E E E G E E E G E E E E E E S S D S S p.1380
. . . . . . g.27693
AGCAGCAGCGATGGGGAGGGCGCCCTCCGGAGGCGCAGCCTCCGCTCCCACGCCCGGCGC c.4200
S S S D G E G A L R R R S L R S H A R R p.1400
. . . . . . g.27753
CGCCGCCCTCCGCCCCCACCCCCGCCGCCACCGCCCCGCGCCTACGAGCCACGCAGTGAG c.4260
R R P P P P P P P P P P R A Y E P R S E p.1420
. . . . . . g.27813
TTTGAACAGATGACCATCCTGTATGACATTTGGAACTCGGGCCTGGACTCAGAGGACATG c.4320
F E Q M T I L Y D I W N S G L D S E D M p.1440
. . . . . . g.27873
AGTTACCTGCGGCTTACGTACGAGCGGCTGCTGCAGCAGACAAGCGGGGCTGACTGGCTC c.4380
S Y L R L T Y E R L L Q Q T S G A D W L p.1460
. . | 15 . . . g.28223
AACGACACTCACTGGGTCCATCACACAA | TCACCAACCTGACCACCCCAAAACGCAAGCGG c.4440
N D T H W V H H T I | T N L T T P K R K R p.1480
. . . . . . g.28283
CGGCCCCAGGATGGGCCCCGGGAGCACCAGACAGGCTCAGCCCGCAGCGAAGGCTACTAC c.4500
R P Q D G P R E H Q T G S A R S E G Y Y p.1500
. . . . . . g.28343
CCCATCAGCAAGAAGGAGAAGGACAAGTACCTGGACGTGTGCCCAGTCTCGGCCCGGCAG c.4560
P I S K K E K D K Y L D V C P V S A R Q p.1520
. . | 16 . . . . g.28484
CTGGAGGGCGTGGACACTCAG | GGGACGAACCGCGTGCTGTCCGAGCGCCGGTCCGAGCAG c.4620
L E G V D T Q | G T N R V L S E R R S E Q p.1540
. . . . . . g.28544
CGGCGGCTGCTGAGCGCCATCGGTACCTCCGCCATCATGGACAGTGACCTGCTGAAACTC c.4680
R R L L S A I G T S A I M D S D L L K L p.1560
. | 17 . . . . . g.28815
AACCAGCTCAAG | TTCCGGAAGAAGAAGCTCCGATTTGGCCGGAGCCGGATCCACGAGTGG c.4740
N Q L K | F R K K K L R F G R S R I H E W p.1580
. . . . . . g.28875
GGTCTGTTTGCCATGGAACCCATTGCTGCTGACGAGATGGTCATCGAATACGTGGGTCAG c.4800
G L F A M E P I A A D E M V I E Y V G Q p.1600
. | 18 . . . . . g.31389
AACATCCGTCAG | ATGGTGGCCGACATGCGGGAGAAGCGCTACGTGCAGGAGGGCATTGGC c.4860
N I R Q | M V A D M R E K R Y V Q E G I G p.1620
. . . . . . g.31449
AGCAGCTACCTGTTCCGGGTGGACCACGACACCATCATCGATGCCACCAAGTGTGGCAAC c.4920
S S Y L F R V D H D T I I D A T K C G N p.1640
. . . | 19 . . . g.31586
CTGGCCAGATTCATCAACCACTGCTGCACG | CCTAACTGCTACGCCAAGGTCATCACCATC c.4980
L A R F I N H C C T | P N C Y A K V I T I p.1660
. . . . . . g.31646
GAGTCCCAGAAGAAGATCGTGATCTACTCCAAGCAGCCCATTGGCGTGGACGAGGAGATC c.5040
E S Q K K I V I Y S K Q P I G V D E E I p.1680
. . . . . . g.31706
ACCTACGACTACAAGTTCCCACTGGAAGACAACAAGATCCCGTGTCTGTGTGGCACAGAG c.5100
T Y D Y K F P L E D N K I P C L C G T E p.1700
. . g.31730
AGCTGCCGGGGCTCCCTAAACTGA c.5124
S C R G S L N X p.1707
. . . . . . g.31790
ggtggggcaggatgggtgcccacacccctatttattccccctggtgccctgagctcccag c.*60
. . . . . . g.31850
cacccccccagccttagtgggctcagcagggcccacatgcccccatctccaagcgtgggg c.*120
. . . . . . g.31910
ttgggggccccaagcccagcgagggagcctcagtccctggaggcagcttctgcctctcct c.*180
. . . . . . g.31970
gtcacccctgcccaccaccccctgattgtttttctttgcggagaagaagctgtaaatgtt c.*240
. . . . . . g.32030
ttgtagcagccagcagctgtttcctgtggaaacctggggtgccggcctgtacagattctg c.*300
. . . . . . g.32090
tcctggggggctacacagtcctcttgctttgtgttaatggggacttccccttacgccctg c.*360
. . . . . . g.32150
cgtgtacccctccccagtttaggggtctctggggcagtggccatgttctccccctggggg c.*420
. . . . . . g.32210
ggctctgcacccccagtcctggggactccgtgcctggaaccctgcctcatctgttcctgc c.*480
. . . . . . g.32270
cagaccctgagggtcacccttccaccctggtgtcactccccggctcagccaggccaggat c.*540
. . . . . . g.32330
ggcggggtgggtcccttttgctgggctggactgtacatatgttaatagcgcaaacccgac c.*600
. . . g.32367
gccacatttttataattgtgattaaactttattgtac c.*637
(downstream sequence)
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