(used for variant description)
(last modified April 19, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_001033044.2 in the GLUL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering GLUL transcript NM_001033044.2.
(upstream sequence)
g.5001
g c.-541
. . . . . . g.5061
taaaactattccccgtgaaggcggcagggcagaggtccagggcgggctttgctgggagcc c.-481
. . . . . . g.5121
tcgggaccccgggttgggggccgtggggcggcacctggcgagctggcgggtgggcggcga c.-421
. . . . . . g.5181
gccgaggcttcccggcctggcggcaactcgcccctctgccctcagccctcccggctccgc c.-361
. . . . . . g.5241
tcccttcccccacgccgccctgcccctcccccacgcccctttctctttctttctttcttt c.-301
. . . . . . g.5301
cccagttcgcttgcccccaccccagcggcgcccgccgggctcctcgcccaatggccgcgg c.-241
. . . . . . g.5361
ggcccgggaccgcatcagctgatcggcccgggctcctggccgctgggagccaatcagggc c.-181
. . . . . . g.5421
accgggggcggccccgggccgcggataaagggtgcggggctgctggcggctctgcagagt c.-121
. . . . . . g.5481
cgagagtgggagaagagcggagcgtgtgagcagtactgcggcctcctctcctctcctaac c.-61
. . . . . | 02 . g.8469
ctcgctctcgcggcctagctttacccgcccgcctgctcggcgaccag | aacaccttccacc c.-1
. . . . . . g.8529
ATGACCACCTCAGCAAGTTCCCACTTAAATAAAGGCATCAAGCAGGTGTACATGTCCCTG c.60
M T T S A S S H L N K G I K Q V Y M S L p.20
. . . . . . g.8589
CCTCAGGGTGAGAAAGTCCAGGCCATGTATATCTGGATCGATGGTACTGGAGAAGGACTG c.120
P Q G E K V Q A M Y I W I D G T G E G L p.40
. . . . | 03 . . g.9928
CGCTGCAAGACCCGGACCCTGGACAGTGAGCCCAAGTGTGTGGAAG | AGTTGCCTGAGTGG c.180
R C K T R T L D S E P K C V E E | L P E W p.60
. . . . . . g.9988
AATTTCGATGGCTCTAGTACTTTACAGTCTGAGGGTTCCAACAGTGACATGTATCTCGTG c.240
N F D G S S T L Q S E G S N S D M Y L V p.80
. . . . . . g.10048
CCTGCTGCCATGTTTCGGGACCCCTTCCGTAAGGACCCTAACAAGCTGGTGTTATGTGAA c.300
P A A M F R D P F R K D P N K L V L C E p.100
. . | 04 . . . g.10836
GTTTTCAAGTACAATCGAAGGCCTGCAG | AGACCAATTTGAGGCACACCTGTAAACGGATA c.360
V F K Y N R R P A E | T N L R H T C K R I p.120
. . . . . . g.10896
ATGGACATGGTGAGCAACCAGCACCCCTGGTTTGGCATGGAGCAGGAGTATACCCTCATG c.420
M D M V S N Q H P W F G M E Q E Y T L M p.140
. . . . . | 05 . g.11324
GGGACAGATGGGCACCCCTTTGGTTGGCCTTCCAACGGCTTCCCAGGGCCCCAGG | GTCCA c.480
G T D G H P F G W P S N G F P G P Q G | P p.160
. . . . . . g.11384
TATTACTGTGGTGTGGGAGCAGACAGAGCCTATGGCAGGGACATCGTGGAGGCCCATTAC c.540
Y Y C G V G A D R A Y G R D I V E A H Y p.180
. . . . . . g.11444
CGGGCCTGCTTGTATGCTGGAGTCAAGATTGCGGGGACTAATGCCGAGGTCATGCCTGCC c.600
R A C L Y A G V K I A G T N A E V M P A p.200
| 06 . . . . . . g.11707
CAG | TGGGAATTTCAGATTGGACCTTGTGAAGGAATCAGCATGGGAGATCATCTCTGGGTG c.660
Q | W E F Q I G P C E G I S M G D H L W V p.220
. . . . . . g.11767
GCCCGTTTCATCTTGCATCGTGTGTGTGAAGACTTTGGAGTGATAGCAACCTTTGATCCT c.720
A R F I L H R V C E D F G V I A T F D P p.240
. . . . . . g.11827
AAGCCCATTCCTGGGAACTGGAATGGTGCAGGCTGCCATACCAACTTCAGCACCAAGGCC c.780
K P I P G N W N G A G C H T N F S T K A p.260
. . | 07 . . . . g.12520
ATGCGGGAGGAGAATGGTCTGAA | GTACATCGAGGAGGCCATTGAGAAACTAAGCAAGCGG c.840
M R E E N G L K | Y I E E A I E K L S K R p.280
. . . . . . g.12580
CACCAGTACCACATCCGTGCCTATGATCCCAAGGGAGGCCTGGACAATGCCCGACGTCTA c.900
H Q Y H I R A Y D P K G G L D N A R R L p.300
. . . . . . g.12640
ACTGGATTCCATGAAACCTCCAACATCAACGACTTTTCTGCTGGTGTAGCCAATCGTAGC c.960
T G F H E T S N I N D F S A G V A N R S p.320
. . . . . . g.12700
GCCAGCATACGCATTCCCCGGACTGTTGGCCAGGAGAAGAAGGGTTACTTTGAAGATCGT c.1020
A S I R I P R T V G Q E K K G Y F E D R p.340
. . . . . . g.12760
CGCCCCTCTGCCAACTGCGACCCCTTTTCGGTGACAGAAGCCCTCATCCGCACGTGTCTT c.1080
R P S A N C D P F S V T E A L I R T C L p.360
. . . . g.12802
CTCAATGAAACCGGCGATGAGCCCTTCCAGTACAAAAATTAA c.1122
L N E T G D E P F Q Y K N X p.373
. . . . . . g.12862
gtggactagacctccagctgttgagcccctcctagttcttcatcccactccaactcttcc c.*60
. . . . . . g.12922
ccctctcccagttgtcccgattgtaactcaaagggtggaatatcaaggtcgtttttttca c.*120
. . . . . . g.12982
ttccatgtgcccagttaatcttgctttctttgtttggctgggatagaggggtcaagttat c.*180
. . . . . . g.13042
taatttcttcacacctaccctcctttttttccctatcactgaagctttttagtgcattag c.*240
. . . . . . g.13102
tggggaggagggtggggagacataaccactgcttccatttaatggggtgcacctgtccaa c.*300
. . . . . . g.13162
taggcgtagctatccggacagagcacgtttgcagaagggggtctcttcttccaggtagct c.*360
. . . . . . g.13222
gaaaggggaagacctgacgtactctggttaggttaggacttgccctcgtggtggaaactt c.*420
. . . . . . g.13282
ttcttaaaaagttataaccaacttttctattaaaagtgggaattaggagagaaggtaggg c.*480
. . . . . . g.13342
gttgggaatcagagagaatggctttggtctcttgcttgtgggactagcctggcttgggac c.*540
. . . . . . g.13402
taaatgccctgctctgaacacgaagcttagtataaactgatggatatccctaccttgaaa c.*600
. . . . . . g.13462
gaagaaaaggttcttactgcttggtccttgatttatcacacaaagcagaatagtattttt c.*660
. . . . . . g.13522
atatttaaatgtaaagacaaaaaactatatgtatggttttgtggattatgtgtgttttgc c.*720
. . . . . . g.13582
taaaggaaaaaaccatccaggtcacggggcaccaaatttgagacaaatagtcggattaga c.*780
. . . . . . g.13642
aataaagcatctcattttgagtagagagcaagggaagtggttcttagatggtgatctggg c.*840
. . . . . . g.13702
attaggccctcaagacccttttgggtttctgccctgcccaccctctggagaaggtgggca c.*900
. . . . . . g.13762
ctggattagttaacagacaacacgttactagcagtcacttgatctccgtggctttggttt c.*960
. . . . . . g.13822
aaaagacacacttgtccacataggtttagagataagagttggctggtcaacttgagcatg c.*1020
. . . . . . g.13882
ttactgacagagggggtattggggttattttctggtaggaatagcatgtcactaaagcag c.*1080
. . . . . . g.13942
gccttttgatattaaattttttaaaaagcaaaattatagaagtttagattttaatcaaat c.*1140
. . . . . . g.14002
ttgtagggtttctaggtaatttttacagaattgcttgtttgcttcaactgtctcctacct c.*1200
. . . . . . g.14062
ctgctcttggaggagatggggacagggctggagtcaaaacacttgtaattttgtatcttg c.*1260
. . . . . . g.14122
atgtctttgttaagactgctgaagaattattttttttcttttataataaggaataaaccc c.*1320
. . . . . . g.14182
cacctttattccttcatttcatctaccattttctggttcttgtgttggctgtggcaggcc c.*1380
. . . . . . g.14242
agctgtggttttcttttgccatgacaacttctaattgccatgtacagtatgttcaaagtc c.*1440
. . . . . . g.14302
aaataactcctcattgtaaacaaactgtgtaactgcccaaagcagcacttataaatcagc c.*1500
. . . . . . g.14362
ctaacataagatctctctgatgtgtttgtgattctttcaaatccctatgtgccattatat c.*1560
. . . . . . g.14422
ttctttatttcctaaaacaggcaaaataagctcaagtttatgtactctgagtttttaaaa c.*1620
. . . . . . g.14482
cactggagtgatgttgctgaccagccgtttcctgtacctctctaagttgggtatttggga c.*1680
. . . . . . g.14542
cttaagggattaagtttttcacctagacttagttacacacaatcttggcatttcctagcc c.*1740
. . . . . . g.14602
tagaggtttgtagcagggtacaagccccactcctcccccttcctttgctcccctgagttt c.*1800
. . . . . . g.14662
ggttttggcttaccataacattgttttgaccattcctagcctaatacaatagcctaacat c.*1860
. . . . . . g.14722
aatgtaagattaactggctttacgatttctattctctgctctcagtgataagaaacaaat c.*1920
. . . . . . g.14782
attagctaccctgctaccctggttgaagccttccaaggctggctatgccctaggcatggg c.*1980
. . . . . . g.14842
ctcatccttgggtgtatcttgccttgcaggaagaccagtggaccgattgtgattctcaaa c.*2040
. . . . . . g.14902
agctctgtgttgtcacctgtgcccttgccccttgctcttatcttggtccgtgtatctggg c.*2100
. . . . . . g.14962
agttcttccaccttatcttggccaattcctaccttcgttcattcctcatgaggttgggta c.*2160
. . . . . . g.15022
aaagctccctccggctcccatgatgctgtgcatatacctagcaaaaagcaattattggac c.*2220
. . . . . . g.15082
acattggagtgcaatattattaatagcattaatactactaataatgtgggcaatagtgat c.*2280
. . . . . . g.15142
tgtttttaaaaggcagtatactcttaccagtgcgaggtagctggggcctgtgatagtttt c.*2340
. . . . . . g.15202
tagagataagttcttcaggcaactgtgtattttacactagtcaagtaatcctagatatcc c.*2400
. . . . . . g.15262
gtggtttttcttaagaaagttggctcgtaatatgatttaatattcaaagtagagtcatct c.*2460
. . . . . . g.15322
acctattagcttgctggcgtggtcctagtttatgcctgtttcagcatgattgttgagtac c.*2520
. . . . . . g.15382
cctgtttcatccttagcattttcttgattttgttgttaaatgatgtatacccttatttcc c.*2580
. . . . . . g.15442
attgaatctgtgcttccacccccccaactgaagttgtcttccctttgcttggccaccctt c.*2640
. . . . . . g.15502
acagcctcttggatggtgtatcctacagtgtaagcactaaactgaagaggcagtgacctg c.*2700
g.15503
a c.*2701
(downstream sequence)
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