(used for variant description)
(last modified February 23, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001278464.1 in the DNM1L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012219.1, covering DNM1L transcript NM_001278464.1.
(upstream sequence)
. . . . g.5041
agcgcatggcctgccgggagggggcaggtagccggcgggcccgg c.-121
. . . . . . g.5101
tccaatgggtgccggcttccgaggagagggcggaggagaggaggaaggaggcgaactgtg c.-61
. . . . . . g.5161
ggccccggccccattcattgccgtggccggcgggcactggggccccgtgttttcagagtc c.-1
. . . . . . g.5221
ATGGAGGCGCTAATTCCTGTCATAAACAAGCTCCAGGACGTCTTCAACACGGTGGGCGCC c.60
M E A L I P V I N K L Q D V F N T V G A p.20
. . . . | 02 . . g.27230
GACATCATCCAGCTGCCTCAAATCGTCGTAGTGGGAACGCAG | AGCAGCGGAAAGAGCTCA c.120
D I I Q L P Q I V V V G T Q | S S G K S S p.40
. . . . . . g.27290
GTGCTAGAAAGCCTGGTGGGGAGGGACCTGCTTCCCAGAGGTACTGGAATTGTCACCCGG c.180
V L E S L V G R D L L P R G T G I V T R p.60
. . . . . . g.27350
AGACCTCTCATTCTGCAACTGGTCCATGTTTCACAAGAAGATAAACGGAAAACAACAGGA c.240
R P L I L Q L V H V S Q E D K R K T T G p.80
. | 03 . . . | 04 . g.33175
GAAGAAAATG | ACCCTGCTACATGGAAAAACTCAAGACACCTTTCTAAAG | GGGTGGAAGCA c.300
E E N D | P A T W K N S R H L S K G | V E A p.100
. . . | 05 . . . g.33974
GAAGAATGGGGTAAATTTCTTCACACCAAAAATAAG | CTTTACACGGATTTTGATGAAATT c.360
E E W G K F L H T K N K | L Y T D F D E I p.120
. . . . | 06 . g.36738
CGACAAGAAATTGAAAATGAAACAGAAAGAATTTCAGGAAATAATAAG | GGAGTAAGCCCT c.420
R Q E I E N E T E R I S G N N K | G V S P p.140
. . . . . . g.36798
GAACCAATTCATCTTAAGATTTTTTCACCCAACGTTGTCAATTTGACACTTGTGGATTTG c.480
E P I H L K I F S P N V V N L T L V D L p.160
. | 07 . . . . . g.39051
CCAGGAATGACCAAG | GTGCCTGTAGGTGATCAACCTAAGGATATTGAGCTTCAAATCAGA c.540
P G M T K | V P V G D Q P K D I E L Q I R p.180
. . . . . . g.39111
GAGCTCATTCTTCGGTTCATCAGTAATCCTAATTCCATTATCCTCGCTGTCACTGCTGCT c.600
E L I L R F I S N P N S I I L A V T A A p.200
. . . . . | 08 g.44442
AATACAGATATGGCAACATCAGAGGCACTTAAAATTTCAAGAGAGGTAGATCCAGATG | GT c.660
N T D M A T S E A L K I S R E V D P D G | p.220
. . . . . . g.44502
CGCAGAACCCTAGCTGTAATCACTAAACTTGATCTCATGGATGCGGGTACTGATGCCATG c.720
R R T L A V I T K L D L M D A G T D A M p.240
. . . . . | 09 g.46462
GATGTATTGATGGGAAGGGTTATTCCAGTCAAACTTGGAATAATTGGAGTAGTTAACAG | G c.780
D V L M G R V I P V K L G I I G V V N R | p.260
. . . . . . g.46522
AGCCAGCTAGATATTAACAACAAGAAGAGTGTAACTGATTCAATCCGTGATGAGTATGCT c.840
S Q L D I N N K K S V T D S I R D E Y A p.280
. . . . . . g.46582
TTTCTTCAAAAGAAATATCCATCTCTGGCCAATAGAAATGGAACAAAGTATCTTGCTAGG c.900
F L Q K K Y P S L A N R N G T K Y L A R p.300
. | 10 . . . . . g.48273
ACTCTAAACAG | GTTACTGATGCATCACATCAGAGATTGTTTACCAGAGTTGAAAACAAGA c.960
T L N R | L L M H H I R D C L P E L K T R p.320
. . . . . . g.48333
ATAAATGTTCTAGCTGCTCAGTATCAGTCTCTTCTAAATAGCTACGGTGAACCCGTGGAT c.1020
I N V L A A Q Y Q S L L N S Y G E P V D p.340
. . . . . . g.48393
GATAAAAGTGCTACTTTACTCCAACTTATTACCAAATTTGCCACAGAATATTGTAACACT c.1080
D K S A T L L Q L I T K F A T E Y C N T p.360
. . . | 11 . . g.56833
ATTGAAGGAACTGCAAAATATATTGAAACTTCGGAGCT | ATGCGGTGGTGCTAGAATTTGT c.1140
I E G T A K Y I E T S E L | C G G A R I C p.380
. . . . . . g.56893
TATATTTTCCATGAGACTTTTGGGCGAACCTTAGAATCTGTTGATCCACTTGGTGGCCTT c.1200
Y I F H E T F G R T L E S V D P L G G L p.400
. . . | 12 . . g.57174
AACACTATTGACATTTTGACTGCCATTAGAAATGCTACT | GGTCCTCGTCCTGCTTTATTT c.1260
N T I D I L T A I R N A T | G P R P A L F p.420
. . . . . . g.57234
GTGCCTGAGGTTTCATTTGAGTTACTGGTGAAGCGGCAAATCAAACGTCTAGAAGAGCCC c.1320
V P E V S F E L L V K R Q I K R L E E P p.440
. . . . . . g.57294
AGCCTCCGCTGTGTGGAACTGGTTCATGAGGAAATGCAAAGGATCATTCAGCACTGTAGC c.1380
S L R C V E L V H E E M Q R I I Q H C S p.460
. | 13 . . . . . g.57696
AATTACAGTACACAG | GAATTGTTACGATTTCCTAAACTTCATGATGCCATAGTTGAAGTG c.1440
N Y S T Q | E L L R F P K L H D A I V E V p.480
. . . . | 14 . . g.59527
GTGACTTGTCTTCTTCGTAAAAGGTTGCCTGTTACAAATGAAATG | GTCCATAACTTAGTG c.1500
V T C L L R K R L P V T N E M | V H N L V p.500
. . . . . . g.59587
GCAATTGAACTGGCTTATATCAACACAAAACATCCAGACTTTGCTGATGCTTGTGGGCTA c.1560
A I E L A Y I N T K H P D F A D A C G L p.520
. | 15 . . . . g.62944
ATGAACAATAATATAGAG | GAACAAAGGAGAAACAGGCTAGCCAGAGAATTACCTTCAGCT c.1620
M N N N I E | E Q R R N R L A R E L P S A p.540
. | 16 . . . . . g.63707
GTATCACGAGACAAG | TCTTCTAAAGTTCCAAGTGCTTTGGCACCTGCCTCCCAGGAGCCC c.1680
V S R D K | S S K V P S A L A P A S Q E P p.560
. . . | 17 . . . g.64088
TCCCCCGCTGCTTCTGCTGAGGCTGATGGCAAG | TTAATTCAGGACAGCAGAAGAGAAACT c.1740
S P A A S A E A D G K | L I Q D S R R E T p.580
| 18 . . . . . . g.65915
AAAAAT | GTTGCATCTGGAGGTGGTGGGGTTGGAGATGGTGTTCAAGAACCAACCACAGGC c.1800
K N | V A S G G G G V G D G V Q E P T T G p.600
. . . . . . g.65975
AACTGGAGAGGAATGCTGAAAACTTCAAAAGCTGAAGAGTTATTAGCAGAAGAAAAATCA c.1860
N W R G M L K T S K A E E L L A E E K S p.620
. . . . . . g.66035
AAACCCATTCCAATTATGCCAGCCAGTCCACAAAAAGGTCATGCCGTGAACCTGCTAGAT c.1920
K P I P I M P A S P Q K G H A V N L L D p.640
| 19 . . . . . . g.66263
GTG | CCAGTTCCTGTTGCACGAAAACTATCTGCTCGGGAACAGCGAGATTGTGAGGTTATT c.1980
V | P V P V A R K L S A R E Q R D C E V I p.660
. . . . . | 20 . g.68393
GAACGACTCATTAAATCATATTTTCTCATTGTCAGAAAGAATATTCAAGACAG | TGTGCCA c.2040
E R L I K S Y F L I V R K N I Q D S | V P p.680
. . . . . . g.68453
AAGGCAGTAATGCATTTTTTGGTTAATCATGTGAAAGACACTCTTCAGAGTGAGCTAGTA c.2100
K A V M H F L V N H V K D T L Q S E L V p.700
. . . . . . g.68513
GGCCAGCTGTATAAATCATCCTTATTGGATGATCTTCTGACAGAATCTGAGGACATGGCA c.2160
G Q L Y K S S L L D D L L T E S E D M A p.720
. . . | 21 . . . g.69178
CAGCGCAGGAAAGAAGCAGCTGATATGCTAAAG | GCATTACAAGGAGCCAGTCAAATTATT c.2220
Q R R K E A A D M L K | A L Q G A S Q I I p.740
. . . g.69208
GCTGAAATCCGGGAGACTCATCTTTGGTGA c.2250
A E I R E T H L W X p.749
. . . . . . g.69268
agagaactatgtaatactgagactttgttgactcaaaacttgctagttactgcctacctg c.*60
. . . . . . g.69328
agtagaatcttatttatgaactcctgtgtattgcaatggtatgaatctgctcatgtggag c.*120
. . . . . . g.69388
actggctataaactgaaaagtgtattccaaattgcagaacacatcacacatttaatccaa c.*180
. . . . . . g.69448
ataataaatggctgtttctaaagtttcccagtatatataaaatacatcaagtctgtcttg c.*240
. . . . . . g.69508
tgacagtttcatctgaacttaacttaaaaacaactgttaatgttctagttgtgcaaagca c.*300
. . . . . . g.69568
gtttgcctgtggataagatgacctgtgtaataatctttgttagtagtcttaaagctgctg c.*360
. . . . . . g.69628
ccatagtcctccaagaagaaagcaccaagacaacatttcatatgactataatgcatgtac c.*420
. . . . . . g.69688
tatataagctgatctggctttgaaagatgtgagttggcaagttcctcacatagagtcatt c.*480
. . . . . . g.69748
gtattccacctgtccttcaatttagttttttctgagcttctttgcagcctttgatgtgtt c.*540
. . . . . . g.69808
tttaagaaagctgaatgcacaagaggatctgtgacactgacatggctgtggtgtgcatac c.*600
. . . . . . g.69868
tgtgtagttacatagcccttccaattctgggtccatttgcactagcaaattaaaatatgc c.*660
. . . . . . g.69928
tttgattcatacttaaacctgaaagcaggaatgcctacattaattcctacattaaaaaca c.*720
. . . . . . g.69988
gccatctacccttgattatctagaaagacttggtaatgatggtcagttccttttagattt c.*780
. . . . . . g.70048
cagaaaatcaaatgatgacctaaatttcccttaatttgcaaatacagtagtaattaaggt c.*840
. . . . . . g.70108
acatctctaaagtggagcacttacaccaggctctaagattcactttgaggtggaacttaa c.*900
. . . . . . g.70168
aaccagtgtactgtatgtatgcattggtaatagctacttttgcttcatagcttcatacca c.*960
. . . . . . g.70228
acaaaatatatttattagaatagtatgaaagtactggaggagctgaaagaaaaacaccca c.*1020
. . . . . . g.70288
aggctgggcgtggtggcacacgcctgtaatcccagcactttgggaggccgaggcaggtgg c.*1080
. . . . . . g.70348
atcacctgaggttgggagttggagaccagcttgaccaacatggagaaaccccgtctctac c.*1140
. . . . . . g.70408
taaaaatacaaaattggccgggcgtggtggcgcatgcctgtaatcccagctactcgggag c.*1200
. . . . . . g.70468
ggtgaggcaggagaattgcttgaccctgggaggtggaggttgtggtgagctaagatcgtg c.*1260
. . . . . . g.70528
ccattgcactccagccttggcaacaagagcgaaactccgtctcaaaaaaaaaaaataaaa c.*1320
. . . . . . g.70588
caacacccagatagatacacatactccttcagacttacagacctaagctgcatttatggg c.*1380
. . . . . . g.70648
gtagtgatgaggtttagaacatatacatattttgttaaaattccccagatgattcttggt c.*1440
. . . . . . g.70708
atgaacgactatattataaattttaagatgtacttagaaatccttaagacatctagcccc c.*1500
. . . . . . g.70768
gtctctaatagacaacacatttatattgcagatattacttttttttcagtttatgaccag c.*1560
. . . . . . g.70828
gtatttatgaaggactattggcagggaaaatatgaatatgttaactttagcttatggcat c.*1620
. . . . . . g.70888
caatttactaaggaacaacaggctcaccaactgatgtcaaacataaaaacccccacatca c.*1680
. . . . . . g.70948
gtctgatacgatatggtactactttgaatctgttactagtaccatcttgacagaggatac c.*1740
. . . . . . g.71008
atgctcccaaaacgtttgttaccacacttaaaaatcactgccatcattaagcatcagttt c.*1800
. . . . . . g.71068
caaaattatagccattcatgatttactttttccagatgactatcattattctagtccttt c.*1860
. . . . . . g.71128
gaatttgtaaggggaaaaaaaacaaaaacaaaaacttacgatgcacttttctccagcaca c.*1920
. . . . . . g.71188
tcagatttcaaattgaaaattaaagacatgctatggtaatgcacttgctagtactacaca c.*1980
. . . . . . g.71248
ctttgtacaacaaaaaacagaggcaagaaacaacggaaagagaaaagccttcctttgttg c.*2040
. . . . . . g.71308
gcccttaaactgagtcaagatctgaaatgtagagatgatctctgacgatacctgtatgtt c.*2100
. . . . . . g.71368
cttattgtgtaaataaaattgctggtatgaaatgacactaaagtttgtcaaaaaatgaat c.*2160
. . . . . . g.71428
tcttaacttttctcccagagaaagggagacaaaaggagctttttaatacctaatctactt c.*2220
. . g.71448
tggaacataaccgtatagag c.*2240
(downstream sequence)
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