(used for variant description)
(last modified July 21, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001003722.1 in the GLE1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012073.1, covering GLE1 transcript NM_001003722.1.
(upstream sequence)
. . . . . g.5054
gctgtgctgcgcgcgcgtcccggaagcagaagcctgtgtggccttcccggcggc c.-61
. . . . . . g.5114
tgattcgagggcttgtttggtcagaaggggggcgtcagagaagctgccccttagccaacc c.-1
. . . . . . g.5174
ATGCCGTCTGAGGGTCGCTGCTGGGAGACCTTGAAGGCCCTACGCAGTTCCGACAAAGGT c.60
M P S E G R C W E T L K A L R S S D K G p.20
. . . | 02 . . g.9205
CGCCTTTGCTACTACCGCGACTGGCTGCTGCGGCGCGAG | GATGTTTTAGAAGAATGTATG c.120
R L C Y Y R D W L L R R E | D V L E E C M p.40
. . . . . . g.9265
TCTCTTCCCAAGCTATCTTCTTATTCTGGATGGGTGGTAGAGCACGTCCTACCCCATATG c.180
S L P K L S S Y S G W V V E H V L P H M p.60
. . . . . . g.9325
CAGGAGAACCAACCTCTGTCTGAGACTTCGCCATCCTCTACGTCAGCTTCAGCCCTAGAT c.240
Q E N Q P L S E T S P S S T S A S A L D p.80
. . . . . . g.9385
CAACCCTCATTTGTTCCCAAATCTCCTGACGCAAGCTCTGCCTTTTCCCCAGCCTCCCCT c.300
Q P S F V P K S P D A S S A F S P A S P p.100
. . | 03 . . . . g.15876
GCAACACCAAATGGAACCAAG | GGCAAAGATGAGTCCCAGCACACAGAATCTATGGTACTT c.360
A T P N G T K | G K D E S Q H T E S M V L p.120
. . . . . . g.15936
CAGTCCTCACGGGGGATCAAAGTGGAAGGCTGCGTCCGAATGTACGAACTGGTACACAGA c.420
Q S S R G I K V E G C V R M Y E L V H R p.140
. | 04 . . . . . g.23024
ATGAAAGGAACA | GAGGGCCTGAGGCTATGGCAGGAGGAGCAGGAGAGGAAGGTGCAAGCC c.480
M K G T | E G L R L W Q E E Q E R K V Q A p.160
. . . . . . g.23084
CTCTCGGAGATGGCATCTGAACAACTGAAGCGGTTTGATGAATGGAAGGAACTGAAGCAG c.540
L S E M A S E Q L K R F D E W K E L K Q p.180
. . . . | 05 . . g.23607
CATAAAGAATTCCAGGACTTGCGGGAAGTAATGGAGAAGAG | CTCCAGAGAAGCCTTGGGA c.600
H K E F Q D L R E V M E K S | S R E A L G p.200
. . . . | 06 . . g.23918
CACCAAGAGAAGCTAAAAGCTGAGCACCGTCACAGAGCAAAG | ATTCTCAACCTGAAGCTG c.660
H Q E K L K A E H R H R A K | I L N L K L p.220
. . . . . . g.23978
CGGGAAGCAGAGCAGCAGCGCGTGAAGCAAGCAGAACAGGAGCGGCTTCGGAAGGAAGAA c.720
R E A E Q Q R V K Q A E Q E R L R K E E p.240
. . . . . . g.24038
GGCCAGATCCGCCTGCGGGCCCTCTATGCTCTGCAGGAGGAGATGCTGCAGCTCAGCCAG c.780
G Q I R L R A L Y A L Q E E M L Q L S Q p.260
. . . . . . g.24098
CAGCTGGATGCCTCTGAGCAGCACAAAGCCCTGCTTAAGGTCGACCTGGCTGCCTTCCAG c.840
Q L D A S E Q H K A L L K V D L A A F Q p.280
. . . . . | 07. g.25503
ACCCGAGGCAACCAGCTGTGCAGCCTCATCTCAGGGATCATCCGGGCCTCTTCAGAG | AGC c.900
T R G N Q L C S L I S G I I R A S S E | S p.300
. . . . . . g.25563
AGCTATCCCACAGCAGAGAGTCAAGCTGAGGCTGAGCGAGCTCTGCGGGAAATGCGGGAC c.960
S Y P T A E S Q A E A E R A L R E M R D p.320
. . . . . . g.25623
CTCCTGATGAACTTGGGGCAGGAGATCACCAGAGCCTGCGAAGACAAGAGGAGGCAGGAT c.1020
L L M N L G Q E I T R A C E D K R R Q D p.340
. . . . . . g.25683
GAAGAAGAGGCCCAGGTAAAGCTGCAAGAGGCACAGATGCAGCAGGGACCAGAGGCCCAC c.1080
E E E A Q V K L Q E A Q M Q Q G P E A H p.360
. . . . | 08 . g.27498
AAAGAGCCCCCAGCTCCCAGCCAGGGCCCAGGAGGGAAACAGAATGAAG | ACCTCCAGGTG c.1140
K E P P A P S Q G P G G K Q N E D | L Q V p.380
. . . . . . g.27558
AAGGTACAAGACATTACAATGCAGTGGTACCAGCAGCTGCAGGATGCTTCCATGCAGTGT c.1200
K V Q D I T M Q W Y Q Q L Q D A S M Q C p.400
. . . . | 09 . . g.27782
GTGTTGACCTTTGAGGGCCTGACCAACAGCAAGGACAGTCAG | GCCAAAAAGATAAAGATG c.1260
V L T F E G L T N S K D S Q | A K K I K M p.420
. . . . . | 10 . g.33829
GACCTCCAGAAGGCTGCTACCATCCCAGTGAGCCAAATCTCTACCATTGCAG | GCTCAAAA c.1320
D L Q K A A T I P V S Q I S T I A G | S K p.440
. . . . . . g.33889
CTGAAGGAGATCTTTGACAAGATCCACAGCCTGCTCTCTGGAAAACCTGTTCAATCTGGT c.1380
L K E I F D K I H S L L S G K P V Q S G p.460
. . . . . . g.33949
GGGCGCTCTGTGTCTGTCACACTTAACCCACAGGGGCTGGACTTTGTTCAATACAAACTG c.1440
G R S V S V T L N P Q G L D F V Q Y K L p.480
. | 11 . . . . . g.34114
GCAGAGAAATTTGTG | AAACAAGGCGAGGAGGAAGTGGCCTCTCACCATGAAGCAGCATTC c.1500
A E K F V | K Q G E E E V A S H H E A A F p.500
. . . . . . g.34174
CCCATTGCAGTTGTGGCATCCGGGATCTGGGAGCTCCACCCCAGAGTGGGGGACCTCATT c.1560
P I A V V A S G I W E L H P R V G D L I p.520
. . . . . . g.34234
CTTGCTCATCTACATAAGAAGTGTCCTTACTCTGTTCCTTTCTATCCCACTTTCAAGGAG c.1620
L A H L H K K C P Y S V P F Y P T F K E p.540
. . | 12 . . . . g.36697
GGAATGGCTTTGGAAGACTATCAGAG | GATGCTTGGTTACCAAGTAAAGGATTCCAAAGTG c.1680
G M A L E D Y Q R | M L G Y Q V K D S K V p.560
. . . . . . g.36757
GAGCAGCAAGACAACTTTCTAAAACGCATGTCAGGGATGATCCGTCTCTACGCTGCTATC c.1740
E Q Q D N F L K R M S G M I R L Y A A I p.580
. . . | 13 . . . g.38318
ATCCAGCTCCGGTGGCCATATGGAAACCGACAGGAG | ATTCACCCTCATGGCTTAAATCAT c.1800
I Q L R W P Y G N R Q E | I H P H G L N H p.600
. . . . . . g.38378
GGATGGCGCTGGTTGGCACAGATCTTAAACATGGAGCCCTTGTCAGATGTGACAGCCACC c.1860
G W R W L A Q I L N M E P L S D V T A T p.620
. . | 14 . . . . g.39963
CTCCTCTTTGACTTCCTGGAG | GTGTGTGGGAATGCCCTCATGAAGCAATACCAGGTTCAG c.1920
L L F D F L E | V C G N A L M K Q Y Q V Q p.640
. . . . | 15 . . g.40599
TTCTGGAAGATGCTAATTCTCATCAAAGAGGACTACTTTCCCAG | AATTGAAGCTATCACA c.1980
F W K M L I L I K E D Y F P R | I E A I T p.660
. . . . | 16 . g.41422
AGCTCAGGACAGATGGGCTCCTTCATACGCCTCAAGCAGTTCTTGGAG | AAATGTTTGCAA c.2040
S S G Q M G S F I R L K Q F L E | K C L Q p.680
. . . . . g.41479
CACAAGGACATTCCTGTCCCCAAGGGCTTTCTGACTTCCTCCTTCTGGCGCTCCTGA c.2097
H K D I P V P K G F L T S S F W R S X p.698
. . . . . . g.41539
tgtcactccatcacccaccatcaccgctgctgcaaagaggcaataataaaggaactgaag c.*60
. . . . . . g.41599
acagctgtatttgggagaagtcatgtcagattcagaaatttgccattatgtatttttatg c.*120
. . . . . . g.41659
tatttatgccttgtgactaggagaggagattttcatgggtcacaaaattcttggaggtcc c.*180
. . . . . . g.41719
cttagtagatttggtagttccttaagagatccacgtgataaaataaatggagttggcctt c.*240
. . . . . . g.41779
tcttgttttttgcaaaagtgataaaaggtctttagcacttggtctcctcccttgtctcta c.*300
. . . . . . g.41839
gtgtctttcagaaagttggcaataccttaacaaatgcactctgagctggagggagcccac c.*360
. . . . . . g.41899
catttgcacccacctacccaccctcacccctgttcagatgaatttccagaaagagctaag c.*420
. . . . . . g.41959
gctcataaggttcccttttaagtattatttaatagttgaggccagatacttacatgcaag c.*480
. . . . . . g.42019
tctgggttatggttgttttgcctttctcagcttgtgaagtcattctaaagctagaggaag c.*540
. . . . . . g.42079
tatgtgatatacacatggactaaggctcaggtgacactatggctagattaacatctggga c.*600
. . . . . . g.42139
ttaggactggaaacacatgtcattttgaactaagggaaactctttgtcatcctaatttgg c.*660
. . . . . . g.42199
aatttggtccctggatggctagggatccatgaaccaggcaggtaccttttttgtttttgt c.*720
. . . . . . g.42259
tttgttttgtttcttttctgtttgaattaagatgggctaagatggggcttgcaacattaa c.*780
. . . . . . g.42319
acatgagctgagcatccataagcattgaattgggattaaataaagatgttgggcaggaac c.*840
. . . . . . g.42379
tgaacactgctaatatgatgataaatatgcctgactaaagccactacagaaatccagaga c.*900
. . . . . . g.42439
ttggctgttaaaatttgttttgtggaaagactaattctctttgatactgcagaggcagtg c.*960
. . . . . . g.42499
gccatggatctgttcctctgtgctaaatgtcttgtggcagggtgtgtttgtgggggagtg c.*1020
. . . . . . g.42559
ttcactggtactcttgagtggcctgaagtgacccattctatgaattgttaattaaggtgc c.*1080
. . . . . g.42610
caaaaaaaattaataataaagcttggttttttgaaaaacccattgctgata c.*1131
(downstream sequence)
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