(used for variant description)
(last modified October 15, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_024757.4 in the EHMT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011776.1, covering EHMT1 transcript NM_024757.4.
(upstream sequence)
. . . g.5037
gcgcgggaggggcggggccacgctgcgggcccgggcc c.-1
. . | 02 . . . . g.97014
ATGGCCGCCGCCGATGCCGAG | GCAGTTCCGGCGAGGGGGGAGCCTCAGCAGGATTGCTGT c.60
M A A A D A E | A V P A R G E P Q Q D C C p.20
. . | 03 . . . . g.102669
GTGAAAACCGAGCTGCTGGGAGAAG | AGACACCTATGGCTGCCGATGAAGGCTCAGCAGAG c.120
V K T E L L G E E | T P M A A D E G S A E p.40
. . . . . . g.102729
AAACAGGCAGGAGAGGCCCACATGGCTGCGGACGGTGAGACCAATGGGTCTTGTGAAAAC c.180
K Q A G E A H M A A D G E T N G S C E N p.60
. . . . . . g.102789
AGCGATGCCAGCAGTCATGCAAATGCTGCAAAGCACACTCAGGACAGCGCAAGGGTCAAC c.240
S D A S S H A N A A K H T Q D S A R V N p.80
. . . . . . g.102849
CCCCAGGATGGCACCAACACACTAACTCGGATAGCGGAAAATGGGGTTTCAGAAAGAGAC c.300
P Q D G T N T L T R I A E N G V S E R D p.100
. . . . . . g.102909
TCAGAAGCGGCGAAGCAAAACCACGTCACTGCCGACGACTTTGTGCAGACTTCTGTCATC c.360
S E A A K Q N H V T A D D F V Q T S V I p.120
. . . . . . g.102969
GGCAGCAACGGATACATCTTAAATAAGCCGGCCCTACAGGCACAGCCCTTGAGGACTACC c.420
G S N G Y I L N K P A L Q A Q P L R T T p.140
. . . . . . g.103029
AGCACTCTGGCCTCTTCGCTGCCTGGCCATGCTGCAAAAACCCTTCCTGGAGGGGCTGGC c.480
S T L A S S L P G H A A K T L P G G A G p.160
. . . . . . g.103089
AAAGGCAGGACTCCAAGCGCTTTTCCCCAGACGCCAGCCGCCCCACCAGCCACCCTTGGG c.540
K G R T P S A F P Q T P A A P P A T L G p.180
. . . . . . g.103149
GAGGGGAGTGCTGACACAGAGGACAGGAAGCTCCCGGCCCCTGGCGCCGACGTCAAGGTC c.600
E G S A D T E D R K L P A P G A D V K V p.200
. . . . | 04 . . g.114375
CACAGGGCACGCAAGACCATGCCGAAGTCCGTCGTGGGCCTG | CATGCAGCCAGTAAAGAT c.660
H R A R K T M P K S V V G L | H A A S K D p.220
. . . . . . g.114435
CCCAGAGAAGTTCGAGAAGCTAGAGATCATAAGGAACCAAAAGAGGAGATCAACAAAAAC c.720
P R E V R E A R D H K E P K E E I N K N p.240
. . . . . . g.114495
ATTTCTGACTTTGGACGACAGCAGCTTTTACCCCCCTTCCCATCCCTTCATCAGTCGCTA c.780
I S D F G R Q Q L L P P F P S L H Q S L p.260
. . . . | 05 . . g.129396
CCTCAGAACCAGTGCTACATGGCCACCACAAAATCACAGACAG | CTTGCTTGCCTTTTGTT c.840
P Q N Q C Y M A T T K S Q T A | C L P F V p.280
. . . . . . g.129456
TTAGCAGCTGCAGTATCTCGGAAGAAAAAACGAAGAATGGGAACCTATAGCCTGGTTCCT c.900
L A A A V S R K K K R R M G T Y S L V P p.300
. . . . . . g.129516
AAGAAAAAGACCAAAGTATTAAAACAGAGGACGGTGATTGAGATGTTTAAGAGCATAACT c.960
K K K T K V L K Q R T V I E M F K S I T p.320
. . | 06 . . . . g.129949
CATTCCACTGTGGGTTCCAAG | GGGGAGAAGGACCTGGGCGCCAGCAGCCTGCACGTGAAT c.1020
H S T V G S K | G E K D L G A S S L H V N p.340
. . . . . . g.130009
GGGGAGAGCCTGGAGATGGACTCGGATGAGGACGACTCAGAGGAGCTCGAGGAGGACGAC c.1080
G E S L E M D S D E D D S E E L E E D D p.360
. . . . . . g.130069
GGCCATGGTGCAGAGCAGGCGGCCGCGTTCCCCACAGAGGACAGCAGGACTTCCAAGGAG c.1140
G H G A E Q A A A F P T E D S R T S K E p.380
. . . | 07 . . . g.138369
AGCATGTCGGAGGCTGATCGCGCCCAGAAG | ATGGACGGGGAGTCCGAGGAGGAGCAGGAG c.1200
S M S E A D R A Q K | M D G E S E E E Q E p.400
. . . . | 08 . g.140191
TCCGTGGACACCGGGGAGGAGGAGGAAGGCGGTGACGAGTCTGACCTG | AGTTCGGAATCC c.1260
S V D T G E E E E G G D E S D L | S S E S p.420
. . . . . . g.140251
AGCATTAAGAAGAAATTTCTCAAGAGGAAAGGAAAGACCGACAGTCCCTGGATCAAGCCA c.1320
S I K K K F L K R K G K T D S P W I K P p.440
. . . . | 09 . g.143899
GCCAGGAAAAGGAGGCGGAGAAGTAGAAAGAAGCCCAGCGGTGCCCTCG | GTTCTGAGTCG c.1380
A R K R R R R S R K K P S G A L G | S E S p.460
. . . . . . g.143959
TATAAGTCATCTGCAGGAAGCGCTGAGCAGACGGCACCAGGAGACAGCACAGGGTACATG c.1440
Y K S S A G S A E Q T A P G D S T G Y M p.480
. . . . . . g.144019
GAAGTTTCTCTGGACTCCCTGGATCTCCGAGTCAAAGGAATTCTGTCTTCACAAGCAGAA c.1500
E V S L D S L D L R V K G I L S S Q A E p.500
| 10 . . . . . . g.148742
G | GGTTGGCCAACGGTCCAGATGTGCTGGAGACAGACGGCCTCCAGGAAGTGCCTCTCTGC c.1560
G | L A N G P D V L E T D G L Q E V P L C p.520
. . . . . . g.148802
AGCTGCCGGATGGAAACACCGAAGAGTCGAGAGATCACCACACTGGCCAACAACCAGTGC c.1620
S C R M E T P K S R E I T T L A N N Q C p.540
. . | 11. . . . g.161150
ATGGCTACAGAGAGCGTGGACCATGAA | TTGGGCCGGTGCACAAACAGCGTGGTCAAGTAT c.1680
M A T E S V D H E | L G R C T N S V V K Y p.560
. . . . . . g.161210
GAGCTGATGCGCCCCTCCAACAAGGCCCCGCTCCTCGTGCTGTGTGAAGACCACCGGGGC c.1740
E L M R P S N K A P L L V L C E D H R G p.580
. . . . . | 12 . g.162635
CGCATGGTGAAGCACCAGTGCTGTCCTGGCTGTGGCTACTTCTGCACAGCG | GGTAATTTT c.1800
R M V K H Q C C P G C G Y F C T A | G N F p.600
. . . . . . g.162695
ATGGAGTGTCAGCCCGAGAGCAGCATCTCTCACCGTTTCCACAAAGACTGTGCCTCTCGA c.1860
M E C Q P E S S I S H R F H K D C A S R p.620
. . . . . . g.162755
GTCAATAACGCCAGCTATTGTCCCCACTGTGGGGAGGAGAGCTCCAAGGCCAAAGAGGTG c.1920
V N N A S Y C P H C G E E S S K A K E V p.640
. . . . . . g.162815
ACGATAGCTAAAGCAGACACCACCTCGACCGTGACACCAGTCCCCGGGCAGGAGAAGGGC c.1980
T I A K A D T T S T V T P V P G Q E K G p.660
. . . | 13 . . g.163912
TCGGCCCTGGAGGGCAGGGCCGACACCACAACGGGCAG | TGCTGCCGGGCCACCACTCTCG c.2040
S A L E G R A D T T T G S | A A G P P L S p.680
. . . . . . g.163972
GAGGACGACAAGCTGCAGGGTGCAGCCTCCCACGTGCCCGAGGGCTTTGATCCAACGGGA c.2100
E D D K L Q G A A S H V P E G F D P T G p.700
. . . . . . g.164032
CCTGCTGGGCTTGGGAGGCCAACTCCCGGCCTTTCCCAGGGACCAGGGAAGGAAACCTTG c.2160
P A G L G R P T P G L S Q G P G K E T L p.720
. . . | 14 . . . g.165671
GAGAGCGCTCTCATCGCCCTCGACTCGGAAAA | ACCCAAGAAGCTTCGCTTCCACCCAAAG c.2220
E S A L I A L D S E K | P K K L R F H P K p.740
. . . . . | 15 . g.168304
CAGCTGTACTTCTCCGCCAGGCAAGGGGAGCTTCAGAAGGTGCTCCTCATGCTGG | TGGAC c.2280
Q L Y F S A R Q G E L Q K V L L M L V | D p.760
. . . . . . g.168364
GGAATTGACCCCAACTTCAAAATGGAGCACCAGAATAAGCGCTCTCCACTGCACGCCGCG c.2340
G I D P N F K M E H Q N K R S P L H A A p.780
. . . . | 16 . . g.176874
GCAGAGGCTGGACACGTGGACATCTGCCACATGCTGGTTCAG | GCGGGCGCTAATATTGAC c.2400
A E A G H V D I C H M L V Q | A G A N I D p.800
. . . . . . g.176934
ACCTGCTCAGAAGACCAGAGGACCCCGTTGATGGAAGCAGCCGAAAACAACCATCTGGAA c.2460
T C S E D Q R T P L M E A A E N N H L E p.820
. . . . | 17 . . g.184836
GCAGTGAAGTACCTCATCAAGGCTGGGGCCCTGGTGGATCCCAAG | GACGCAGAGGGCTCT c.2520
A V K Y L I K A G A L V D P K | D A E G S p.840
. . . . . . g.184896
ACGTGTTTGCACCTGGCTGCCAAGAAAGGCCACTACGAAGTGGTCCAGTACCTGCTTTCA c.2580
T C L H L A A K K G H Y E V V Q Y L L S p.860
. . | 18. . . . g.186921
AATGGACAGATGGACGTCAACTGTCAG | GATGACGGAGGCTGGACACCCATGATCTGGGCC c.2640
N G Q M D V N C Q | D D G G W T P M I W A p.880
. . . . . . g.186981
ACAGAGTACAAGCACGTGGACCTCGTGAAGCTGCTGCTGTCCAAGGGCTCTGACATCAAC c.2700
T E Y K H V D L V K L L L S K G S D I N p.900
. | 19 . . . . . g.197517
ATCCGAGACAAC | GAGGAGAACATTTGCCTGCACTGGGCGGCGTTCTCCGGCTGCGTGGAC c.2760
I R D N | E E N I C L H W A A F S G C V D p.920
. . . . . . g.197577
ATAGCCGAGATCCTGCTGGCTGCCAAGTGCGACCTCCACGCCGTGAACATCCACGGAGAC c.2820
I A E I L L A A K C D L H A V N I H G D p.940
. . . . | 20. . g.199027
TCGCCACTGCACATTGCCGCCCGGGAGAACCGCTACGACTGTGTCGT | CCTCTTTCTTTCT c.2880
S P L H I A A R E N R Y D C V V | L F L S p.960
. . . . . . g.199087
CGGGATTCAGATGTCACCTTAAAGAACAAGGAAGGAGAGACGCCCCTGCAGTGTGCGAGC c.2940
R D S D V T L K N K E G E T P L Q C A S p.980
. . . . . . g.199147
CTCAACTCTCAGGTGTGGAGCGCTCTGCAGATGAGCAAGGCTCTGCAGGACTCGGCCCCC c.3000
L N S Q V W S A L Q M S K A L Q D S A P p.1000
. . . | 21 . . . g.199419
GACAGGCCCAGCCCCGTGGAGAGGATAGTGAGCAG | GGACATCGCTCGAGGCTACGAGCGC c.3060
D R P S P V E R I V S R | D I A R G Y E R p.1020
. . . . . . g.199479
ATCCCCATCCCCTGTGTCAACGCCGTGGACAGCGAGCCATGCCCCAGCAACTACAAGTAC c.3120
I P I P C V N A V D S E P C P S N Y K Y p.1040
. . . . . . g.199539
GTCTCTCAGAACTGCGTGACGTCCCCCATGAACATCGACAGAAATATCACTCATCTGCAG c.3180
V S Q N C V T S P M N I D R N I T H L Q p.1060
| 22 . . . . . . g.200499
| TACTGCGTGTGCATCGACGACTGCTCCTCCAGCAACTGCATGTGCGGCCAGCTCAGCATG c.3240
| Y C V C I D D C S S S N C M C G Q L S M p.1080
. | 23 . . . . g.201997
CGCTGCTGGTACGACAAG | GATGGCCGGCTCCTGCCAGAGTTCAACATGGCGGAGCCTCCC c.3300
R C W Y D K | D G R L L P E F N M A E P P p.1100
. . . . . . g.202057
TTGATCTTCGAATGCAACCACGCGTGCTCCTGCTGGAGGAACTGCCGAAATCGCGTCGTA c.3360
L I F E C N H A C S C W R N C R N R V V p.1120
. | 24 . . . . . g.203493
CAGAATGGTCTCAG | GGCAAGGCTGCAGCTCTACCGGACGCGGGACATGGGCTGGGGCGTG c.3420
Q N G L R | A R L Q L Y R T R D M G W G V p.1140
. . . . | 25 . . g.204087
CGGTCCCTGCAGGACATCCCACCAGGCACCTTTGTCTGCGA | GTATGTTGGGGAGCTGATT c.3480
R S L Q D I P P G T F V C E | Y V G E L I p.1160
. . . . . . g.204147
TCAGACTCAGAAGCCGACGTTCGAGAGGAAGATTCTTACCTCTTTGATCTCGACAATAAG c.3540
S D S E A D V R E E D S Y L F D L D N K p.1180
| 26 . . . . . . g.220417
| GACGGGGAGGTTTACTGCATCGACGCGCGGTTCTACGGGAACGTCAGCCGGTTCATCAAC c.3600
| D G E V Y C I D A R F Y G N V S R F I N p.1200
. . . . . . g.220477
CACCACTGCGAGCCCAACCTGGTGCCCGTGCGCGTGTTCATGGCCCACCAGGACCTGCGG c.3660
H H C E P N L V P V R V F M A H Q D L R p.1220
. . . . . | 27 . g.220785
TTCCCCCGGATCGCCTTCTTCAGCACCCGCCTGATCGAGGCCGGCGAGCAGCTCGG | GTTT c.3720
F P R I A F F S T R L I E A G E Q L G | F p.1240
. . . . . . g.220845
GACTATGGAGAGCGCTTCTGGGACATCAAAGGCAAGCTCTTCAGCTGCCGCTGCGGCTCC c.3780
D Y G E R F W D I K G K L F S C R C G S p.1260
. . . . . . g.220905
CCCAAGTGCCGGCACTCGAGCGCGGCCCTGGCCCAGCGTCAGGCCAGCGCGGCCCAGGAG c.3840
P K C R H S S A A L A Q R Q A S A A Q E p.1280
. . . . . g.220962
GCCCAGGAGGACGGCTTGCCCGACACCAGCTCCGCGGCTGCCGCCGACCCCCTATGA c.3897
A Q E D G L P D T S S A A A A D P L X p.1298
. . . . . . g.221022
gacgccgccggccagcggggcgctcgggagccagggaccgccgcgtcgccgattagagga c.*60
. . . . . . g.221082
cgaggaggagagattccgcacgcaaccgaaagggtccttcggggctgcgccgccggcttc c.*120
. . . . . . g.221142
ctggaggggtcggaggtgaggctgcagcccctgcgggcgggtgtggatgcctcccagcca c.*180
. . . . . . g.221202
ccttcccagacctgcggcctcaccgcgggcccagtgcccaggctggagcgcacactttgg c.*240
. . . . . . g.221262
tccgcgcgccagagacgctgggagtccgcactggcatcaccttctgagtttctgatgctg c.*300
. . . . . . g.221322
atttgtcgttgcgaagtttctcgtttcttcctctgacctccgaggtccccgctgcaccac c.*360
. . . . . . g.221382
ggggttgctctgttctcctgtccggcccagactcttctgtgtggcgccgccgaagccacc c.*420
. . . . . . g.221442
gttagcgcgagctgctccgttcgccctgcccacggcctgcgtggctggggccgagtccca c.*480
. . . . . . g.221502
ggggccgcacggagggcacagtctcctgtcaggctcggagaggtcaggagaccgacccca c.*540
. . . . . . g.221562
ccactaactttggagaaaatgtgggtttgctttttaaaggaatcctatatctagtcctat c.*600
. . . . . . g.221622
atatcaaacctctaactgacgtttcttttcgaggaagtggcttggtgggtgcagcccccg c.*660
. . . . . . g.221682
ccggttccgttgacgctggcaccttctgttgattttttaagccacatgctatgatgaata c.*720
. . . . . . g.221742
aactgatttattttctaccattactgaacattaggacaaacacaaaataaaaaacaaaac c.*780
. . . . . . g.221802
acagacaacggtgctgattctggtgtggtttctactcaccacgtgaaataaactatcaac c.*840
. . . . . . g.221862
tgtataaagagaacaaagtgattttagaataaaatgcaggaaaaacttttttaaagatgt c.*900
. . . . . . g.221922
tagtcttgtagcgtgaataaatttgccatcaccttttgtgtggtggcctggcaggtcata c.*960
. . . . . . g.221982
tacttttttttggcatatacctttttaaagactgtaattagtgcagtaacagtggggttt c.*1020
. . . . . . g.222042
tttttgtgcaactcttctaaaaacattcataatgcagtcatgtttatttttttctgttaa c.*1080
. . . . . . g.222102
aatgtttttgacagttttaagagcagtcttttggctctgaccatttcttgttctgtttcc c.*1140
. . . g.222136
aatgaaatcaataaaaaaaaagaagtactttaaa c.*1174
(downstream sequence)
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