(used for variant description)
(last modified December 31, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001128227.2 in the GNE gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008246.1, covering GNE transcript variant-1 (NM_001128227.2). Transcript variant-3 (NM_001190388.1) skips exon 02 and uses an alternative translation initiation site (and reading frame) in exon 01 encoding protein isoform-3. Transcript variant-2 (NM_005476.5) uses an alternative promoter/exon 01b in intron 01 and a translation initiation site in exon 02, encoding isoform-2. Transcript variant-4 (NM_001190383.1) uses an alternative promoter/exon 01b in intron 01, skips exon 09 and uses a translation initiation site in exon 02, encoding isoform-4. Transcript variant-5 (NM_001190384.1) uses an alternative promoter/exon 01b in intron 01, skips exon 02 and 04, and uses a translation initiation site in exon 03, encoding isoform-5.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
. . . . . g.5052
agtctggaattcagatgcctattggtgactgctccgtggcagctaaaccaag c.-61
M P I G D C S V A A K P R
alternative reading frame isoform-3
. . . . . . g.5112
aaaacagctgctctgctcattatttcaaaccacactagggtacagagctcgtgcttcggg c.-1
K Q L L C S L F Q T T L G Y R A R A S G
. . . . . | 02 . g.32668
ATGGAAACCTATGGTTATCTGCAGAGGGAGTCATGCTTTCAAGGACCTCAT | GAACTCTAT c.60
M E T Y G Y L Q R E S C F Q G P H | E L Y p.20
^ alternatively spliced exon
W K P M V I C R G S H A F K D L I
. . . . . . g.32728
TTTAAGAACCTCTCAAAACGAAACAAGCAAATCATGGAGAAGAATGGAAATAACCGAAAG c.120
F K N L S K R N K Q I M E K N G N N R K p.40
^ translation initiation isoform-4
. . . . . . g.32788
CTGCGGGTTTGTGTTGCTACTTGTAACCGTGCAGATTATTCTAAACTTGCCCCGATCATG c.180
L R V C V A T C N R A D Y S K L A P I M p.60
. . . . . . g.32848
TTTGGCATTAAAACCGAACCTGAGTTCTTTGAACTTGATGTTGTGGTACTTGGCTCTCAC c.240
F G I K T E P E F F E L D V V V L G S H p.80
. | 03. . . . . g.35617
CTGATAGATGACTATGG | AAATACATATCGAATGATTGAACAAGATGACTTTGACATTAAC c.300
L I D D Y G | N T Y R M I E Q D D F D I N p.100
^ translation initiation isoforms 2 and 5
. . . . . . g.35677
ACCAGGCTACACACAATTGTGAGGGGAGAAGATGAGGCAGCCATGGTGGAGTCAGTAGGC c.360
T R L H T I V R G E D E A A M V E S V G p.120
. . . . . . g.35737
CTGGCCCTAGTGAAGCTGCCAGATGTCCTTAATCGCCTGAAGCCTGATATCATGATTGTT c.420
L A L V K L P D V L N R L K P D I M I V p.140
. . . . . . g.35797
CATGGAGACAGGTTTGATGCCCTGGCTCTGGCCACATCTGCTGCCTTGATGAACATCCGA c.480
H G D R F D A L A L A T S A A L M N I R p.160
. . . . . . g.35857
ATCCTTCACATTGAAGGTGGGGAAGTCAGTGGGACCATTGATGACTCTATCAGACATGCC c.540
I L H I E G G E V S G T I D D S I R H A p.180
. . . . . . g.35917
ATAACAAAACTGGCTCATTATCATGTGTGCTGCACCCGCAGTGCAGAGCAGCACCTGATA c.600
I T K L A H Y H V C C T R S A E Q H L I p.200
. . . . . . g.35977
TCCATGTGTGAGGACCATGATCGCATCCTTTTGGCAGGCTGCCCTTCCTATGACAAACTT c.660
S M C E D H D R I L L A G C P S Y D K L p.220
. . . . | 04 . g.45083
CTCTCAGCCAAGAACAAAGACTACATGAGCATCATTCGCATGTGGCTAG | GTGATGATGTA c.720
L S A K N K D Y M S I I R M W L G | D D V p.240
^ alternatively spliced exon
. . . . . . g.45143
AAATCTAAAGATTACATTGTTGCACTACAGCACCCTGTGACCACTGACATTAAGCATTCC c.780
K S K D Y I V A L Q H P V T T D I K H S p.260
. . . . . . g.45203
ATAAAAATGTTTGAATTAACATTGGATGCACTTATCTCATTTAACAAGCGGACCCTAGTC c.840
I K M F E L T L D A L I S F N K R T L V p.280
. . | 05 . . . . g.47962
CTGTTTCCAAATATTGACGCAG | GGAGCAAAGAGATGGTTCGAGTGATGCGGAAGAAGGGC c.900
L F P N I D A G | S K E M V R V M R K K G p.300
. . . . . . g.48022
ATTGAGCATCATCCCAACTTTCGTGCAGTTAAACACGTCCCATTTGACCAGTTTATACAG c.960
I E H H P N F R A V K H V P F D Q F I Q p.320
. . . . . . g.48082
TTGGTTGCCCATGCTGGCTGTATGATTGGGAACAGCAGCTGTGGGGTTCGAGAAGTTGGA c.1020
L V A H A G C M I G N S S C G V R E V G p.340
. . . . . | 06 . g.52953
GCTTTTGGAACACCTGTGATCAACCTGGGAACACGTCAGATTGGAAGAGAAACAG | GGGAG c.1080
A F G T P V I N L G T R Q I G R E T G | E p.360
. . . . . . g.53013
AATGTTCTTCATGTCCGGGATGCTGACACCCAAGACAAAATATTGCAAGCACTGCACCTT c.1140
N V L H V R D A D T Q D K I L Q A L H L p.380
. . | 07 . . . . g.54635
CAGTTTGGTAAACAGTACCCTTG | TTCAAAGATATATGGGGATGGAAATGCTGTTCCAAGG c.1200
Q F G K Q Y P C | S K I Y G D G N A V P R p.400
. . . . . . g.54695
ATTTTGAAGTTTCTCAAATCTATCGATCTTCAAGAGCCACTGCAAAAGAAATTCTGCTTT c.1260
I L K F L K S I D L Q E P L Q K K F C F p.420
. . . . . . g.54755
CCTCCTGTGAAGGAGAATATCTCTCAAGATATTGACCATATTCTTGAAACTCTAAGTGCC c.1320
P P V K E N I S Q D I D H I L E T L S A p.440
. . . . . | 08 . g.58560
TTGGCCGTTGATCTTGGCGGGACGAACCTCCGAGTTGCAATAGTCAGCATGAAG | GGTGAA c.1380
L A V D L G G T N L R V A I V S M K | G E p.460
. . . . . . g.58620
ATAGTTAAGAAGTATACTCAGTTCAATCCTAAAACCTATGAAGAGAGGATTAATTTAATC c.1440
I V K K Y T Q F N P K T Y E E R I N L I p.480
. . . . . . g.58680
CTACAGATGTGTGTGGAAGCTGCAGCAGAAGCTGTAAAACTGAACTGCAGAATTTTGGGA c.1500
L Q M C V E A A A E A V K L N C R I L G p.500
| 09 . . . . . . g.59114
GTAG | GCATTTCCACAGGTGGCCGTGTAAATCCTCGGGAAGGAATTGTGCTGCATTCAACC c.1560
V G | I S T G G R V N P R E G I V L H S T p.520
^ alternatively spliced exon
. . . . . . g.59174
AAACTGATCCAAGAGTGGAACTCTGTGGACCTTAGGACCCCCCTTTCTGACACTTTGCAT c.1620
K L I Q E W N S V D L R T P L S D T L H p.540
. . . . . . g.59234
CTCCCTGTGTGGGTAGACAATGATGGCAACTGTGCTGCCCTGGCGGAAAGGAAATTTGGC c.1680
L P V W V D N D G N C A A L A E R K F G p.560
. . . . | 10 . . g.62050
CAAGGAAAGGGACTGGAAAACTTTGTTACACTTATCACAGGCACAG | GAATCGGTGGTGGA c.1740
Q G K G L E N F V T L I T G T G | I G G G p.580
. . . . . . g.62110
ATTATCCATCAGCATGAATTGATCCACGGAAGCTCCTTCTGTGCTGCAGAACTGGGCCAC c.1800
I I H Q H E L I H G S S F C A A E L G H p.600
. . . . . . g.62170
CTTGTTGTGTCTCTGGATGGGCCTGATTGTTCCTGTGGAAGCCATGGGTGCATTGAAGCA c.1860
L V V S L D G P D C S C G S H G C I E A p.620
. . . . | 11 . g.63768
TACGCCTCTGGAATGGCCTTGCAGAGGGAGGCAAAAAAGCTCCATGATG | AGGACCTGCTC c.1920
Y A S G M A L Q R E A K K L H D E | D L L p.640
. . . . . . g.63828
TTGGTGGAAGGGATGTCAGTGCCAAAAGATGAGGCTGTGGGTGCGCTCCATCTCATCCAA c.1980
L V E G M S V P K D E A V G A L H L I Q p.660
. . . . | 12 . . g.64470
GCTGCGAAACTTGGCAATGCGAAGGCCCAGAGCATCCTAAGAACAG | CTGGAACAGCTTTG c.2040
A A K L G N A K A Q S I L R T A | G T A L p.680
. . . . . . g.64530
GGTCTTGGGGTTGTGAACATCCTCCATACCATGAATCCCTCCCTTGTGATCCTCTCCGGA c.2100
G L G V V N I L H T M N P S L V I L S G p.700
. . . . . . g.64590
GTCCTGGCCAGTCACTATATCCACATTGTCAAAGACGTCATTCGCCAGCAGGCCTTGTCC c.2160
V L A S H Y I H I V K D V I R Q Q A L S p.720
. . . . . . g.64650
TCCGTGCAGGACGTGGATGTGGTGGTTTCGGATTTGGTTGACCCCGCCCTGCTGGGTGCT c.2220
S V Q D V D V V V S D L V D P A L L G A p.740
. . . . g.64692
GCCAGCATGGTTCTGGACTACACAACACGCAGGATCTACTAG c.2262
A S M V L D Y T T R R I Y X p.753
. . . . . . g.64752
acctccaggaacagacatggaccttctctccagagctcctgagtggaatcaagttcttgt c.*60
. . . . . . g.64812
ctttaggatgaccgtttcttaacaatcaaatctggtattgaactgcaggtgactttggca c.*120
. . . . . . g.64872
gagaaatgttttcacttttggtctcctcttccagagtcacctttccccactcctattttt c.*180
. . . . . . g.64932
gtagatgctattctttctgatgtcttcttactaggggtcattttagctcaaaccctgtaa c.*240
. . . . . . g.64992
gttacagtcacaattttctgtgccaaagcagctacaataatagagaggaagccttcttag c.*300
. . . . . . g.65052
aactctgcttactaatgtattaataccactgagaccttcaggccttgcctgggatatcac c.*360
. . . . . . g.65112
ttcatcctgaagtttgcattaataatccttccaggccgggcacagtggctcacgcctgta c.*420
. . . . . . g.65172
atcccagcactttgggaggccgaggcgggcggatcacgaggtcaggagatcgagaccgcc c.*480
. . . . . . g.65232
ctggctaacatggtgaaacatggtgaaaccccgtctctactaaaaatacaaaaaattagc c.*540
. . . . . . g.65292
tgggtgtggtggcgggtcccagctactcgggaggctgaggcaggagaatggcatgaacca c.*600
. . . . . . g.65352
gggaggcggagctggcagtgaactgagaccgcaccactgcactccagcctgggtgacaga c.*660
. . . . . . g.65412
gcaagactccatctcaaaaataataataataaataataataataataataataataataa c.*720
. . . . . . g.65472
taatccttccagctgggcgcagtggctcacgcctgtaatcccaacattttgggaggccga c.*780
. . . . . . g.65532
gatgggcggatcacctgaggtcaggagttcaagaccagcctggccaacatggtgaaaccc c.*840
. . . . . . g.65592
catctctactaaaatacaaaaattagccgggcgtggtggcatgtgcctgtagtcccagct c.*900
. . . . . . g.65652
actcgggaggctgaggcaggagaattgcttgaacccgggaggcggaggttgcagtgagcc c.*960
. . . . . . g.65712
gagatcatgccactgcactccaccctgggtgacagagcgagactccgtctacacacacac c.*1020
. . . . . . g.65772
acacacacacacacacatccttcctcctctaaccccaaactaagatcacagaaggtgatc c.*1080
. . . . . . g.65832
cagtcagagaacagagggaaatcttaccaggaagggcttaagtacacttttttttaaaac c.*1140
. . . . . . g.65892
agctttattgtttttaaagcctacaatttgataagccttgacatatgtatacctgtgaaa c.*1200
. . . . . . g.65952
gcatcaccacaatcaagacactggacatatctatcactcccccatctcagatatcccccc c.*1260
. . . . . . g.66012
taatcctggataccatttgttgaaagatgttattactctagctgaacttacaagagactt c.*1320
. . . . . . g.66072
tagaccagggatctaaattacagtggccttagtgaccttgtccttatcttcttaggacag c.*1380
. . . . . . g.66132
ctgagaagccactgggacttagagcctttaaaaggagattaactgtcccaaaaggatctt c.*1440
. . . . . . g.66192
tgctactgaccagcagacacttcttccttcagtagcctttcatactgtgttgagtaacac c.*1500
. . . . . . g.66252
cctagggtgtccattaaagttttgagttttacctagagcccagagccatgaatcaggatt c.*1560
. . . . . . g.66312
ctgtctacatgattcgtgttttcattggtgtcaaaatacaaaagccaaagttctggctat c.*1620
. . . . . . g.66372
gaattgttaacttggaagaaatactaactgccaccacttattaagtgcctactgtgtgcc c.*1680
. . . . . . g.66432
aggctctgaactaggtgcttcatatacattatcctaaattatctcaacatatgaggtagg c.*1740
. . . . . . g.66492
tgttttaatttttattttatagaacttggtgtgtttgactgttaagctatggggctagag c.*1800
. . . . . . g.66552
agagggtttgatcccaggtccctctgtgcttttgctgctgagccacacaacctctcattt c.*1860
. . . . . . g.66612
caaaaacactttcaaaatgctaacatattctaattcactctaggccaccaaaaactttaa c.*1920
. . . . . . g.66672
tactaatatctgatttgtaaatgacttaatgtatccttgaccctatcagctgaatttaat c.*1980
. . . . . . g.66732
gaaatattcctctctgctgtgaaattttaccagtatagtatttggtctagtgacaggtgt c.*2040
. . . . . . g.66792
tctatttttttgagacgggtctcactctgtcacccaggctggagtgcagtggctcaatgc c.*2100
. . . . . . g.66852
aacctctgccccccaagttcaagtgattctcctgcctcagcctcttgagtagctgggatt c.*2160
. . . . . . g.66912
acaggcacatgcaccacgcccggctgatttttttttgtatttttagtagacagggtttca c.*2220
. . . . . . g.66972
ccatgttggccaggctggtcttgaactcctgacctcaggtgatccgcccgcctctgcctc c.*2280
. . . . . . g.67032
ccaaagtgctgggattacaggtgtaagccatcacacctggccctagtgacaggtttttat c.*2340
. . . . . . g.67092
gggtacttttagatgatctaagaaatcatgtgcatatatctttcagatttctattttggg c.*2400
. . . . . . g.67152
aaaatgaaggtttctacaacatattgtttcagtgttcaaataaactgaaggactcaacat c.*2460
. . . . . . g.67212
tacatttgaactatatccttcctagtgggttagtgtgaaaaagagtttggctgattccta c.*2520
. . . . . . g.67272
aaactctgccagccctgcagtaatctccagggcctggttattgttcagacattccatggt c.*2580
. . . . . . g.67332
gattcctgggaaggaagcttggctgctcagtttctgagtctggggtgagataatgttctg c.*2640
. . . . . . g.67392
ggaagggacatctgttctttggtgtaatctctcatggtgaaatctgctctgtacatcaga c.*2700
. . . . . . g.67452
caattgcattgctaccaagtttcataccaaatatttgaaaggatggtattgaatctaaaa c.*2760
. . . . . . g.67512
ccaaatattagtttttattaaactcatgggaaggctaatatattccaacgtaaattatta c.*2820
. . . . . . g.67572
catatggttaagtaattgcatgttaatttattttaatgtaaatatttttgttactgttct c.*2880
. . . . g.67616
gagccaaattctaaagaaaaaataaatacatttccttgttgaaa c.*2924
(downstream sequence)
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