(used for variant description)
(last modified December 19, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_024312.4 in the GNPTAB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021243.1, covering GNPTAB transcript NM_024312.4.
(upstream sequence)
. g.5012
gctcccggaagc c.-181
. . . . . . g.5072
ggcggccgcggcgcggagccgagcgggcgtccgtcgccggagctgcaatgagcggcgccc c.-121
. . . . . . g.5132
ggaggctgtgacctgcgcgcggcggcccgaccggggcccctgaatggcggctcgctgagg c.-61
. . . . . . g.5192
cggcggcggcggcggcggcggctcaggctcctcggggcgtggcgtggcggtgaaggggtg c.-1
. . . . . . g.5252
ATGCTGTTCAAGCTCCTGCAGAGACAGACCTATACCTGCCTGTCCCACAGGTATGGGCTC c.60
M L F K L L Q R Q T Y T C L S H R Y G L p.20
. . . . . | 02. g.39108
TACGTGTGCTTCTTGGGCGTCGTTGTCACCATCGTCTCCGCCTTCCAGTTCGGAGAG | GTG c.120
Y V C F L G V V V T I V S A F Q F G E | V p.40
. . . . . . g.39168
GTTCTGGAATGGAGCCGAGATCAATACCATGTTTTGTTTGATTCCTATAGAGACAATATT c.180
V L E W S R D Q Y H V L F D S Y R D N I p.60
. . | 03 . . . . g.45847
GCTGGAAAGTCCTTTCAGAATCG | GCTTTGTCTGCCCATGCCGATTGACGTTGTTTACACC c.240
A G K S F Q N R | L C L P M P I D V V Y T p.80
. . . . . . g.45907
TGGGTGAATGGCACAGATCTTGAACTACTGAAGGAACTACAGCAGGTCAGAGAACAGATG c.300
W V N G T D L E L L K E L Q Q V R E Q M p.100
. . | 04 . . . . g.47315
GAGGAGGAGCAGAAAGCAATGAG | AGAAATCCTTGGGAAAAACACAACGGAACCTACTAAG c.360
E E E Q K A M R | E I L G K N T T E P T K p.120
| 05 . . . . . . g.49705
AAGAG | TGAGAAGCAGTTAGAGTGTTTGCTAACACACTGCATTAAGGTGCCAATGCTTGTC c.420
K S | E K Q L E C L L T H C I K V P M L V p.140
. . . . . . g.49765
CTGGACCCAGCCCTGCCAGCCAACATCACCCTGAAGGACCTGCCATCTCTTTATCCTTCT c.480
L D P A L P A N I T L K D L P S L Y P S p.160
. . . . . . g.49825
TTTCATTCTGCCAGTGACATTTTCAATGTTGCAAAACCAAAAAACCCTTCTACCAATGTC c.540
F H S A S D I F N V A K P K N P S T N V p.180
. . . | 06 . . . g.55275
TCAGTTGTTGTTTTTGACAGTACTAAGGATG | TTGAAGATGCCCACTCTGGACTGCTTAAA c.600
S V V V F D S T K D V | E D A H S G L L K p.200
. . . | 07 . . . g.55605
GGAAATAGCAGACAGACAGTATGGAGGGGCTACTTG | ACAACAGATAAAGAAGTCCCTGGA c.660
G N S R Q T V W R G Y L | T T D K E V P G p.220
. . . . . . g.55665
TTAGTGCTAATGCAAGATTTGGCTTTCCTGAGTGGATTTCCACCAACATTCAAGGAAACA c.720
L V L M Q D L A F L S G F P P T F K E T p.240
. . . . . | 08 . g.64719
AATCAACTAAAAACAAAATTGCCAGAAAATCTTTCCTCTAAAGTCAAACTG | TTGCAGTTG c.780
N Q L K T K L P E N L S S K V K L | L Q L p.260
. . . . . . g.64779
TATTCAGAGGCCAGTGTAGCGCTTCTAAAACTGAATAACCCCAAGGATTTTCAAGAATTG c.840
Y S E A S V A L L K L N N P K D F Q E L p.280
. . . . . . g.64839
AATAAGCAAACTAAGAAGAACATGACCATTGATGGAAAAGAACTGACCATAAGTCCTGCA c.900
N K Q T K K N M T I D G K E L T I S P A p.300
. . . | 09 . . . g.65309
TATTTATTATGGGATCTGAGCGCCATCAGCCAG | TCTAAGCAGGATGAAGACATCTCTGCC c.960
Y L L W D L S A I S Q | S K Q D E D I S A p.320
. . . . . . g.65369
AGTCGTTTTGAAGATAACGAAGAACTGAGGTACTCATTGCGATCTATCGAGAGGCATGCA c.1020
S R F E D N E E L R Y S L R S I E R H A p.340
. . . . . . g.65429
CCATGGGTTCGGAATATTTTCATTGTCACCAACGGGCAGATTCCATCCTGGCTGAACCTT c.1080
P W V R N I F I V T N G Q I P S W L N L p.360
. . . | 10 . . . g.65703
GACAATCCTCGAGTGACAATAGTAACACACCAG | GATGTTTTTCGAAATTTGAGCCACTTG c.1140
D N P R V T I V T H Q | D V F R N L S H L p.380
. . . . . . g.65763
CCTACCTTTAGTTCACCTGCTATTGAAAGTCACATTCATCGCATCGAAGGGCTGTCCCAG c.1200
P T F S S P A I E S H I H R I E G L S Q p.400
. . . . . . g.65823
AAGTTTATTTACCTAAATGATGATGTCATGTTTGGGAAGGATGTCTGGCCAGATGATTTT c.1260
K F I Y L N D D V M F G K D V W P D D F p.420
. . | 11 . . . . g.67743
TACAGTCACTCCAAAGGCCAGAAG | GTTTATTTGACATGGCCTGTGCCAAACTGTGCCGAG c.1320
Y S H S K G Q K | V Y L T W P V P N C A E p.440
. . . . . . g.67803
GGCTGCCCAGGTTCCTGGATTAAGGATGGCTATTGTGACAAGGCTTGTAATAATTCAGCC c.1380
G C P G S W I K D G Y C D K A C N N S A p.460
. . | 12 . . . g.69605
TGCGATTGGGATGGTGGGGATTGCTCTG | GAAACAGTGGAGGGAGTCGCTATATTGCAGGA c.1440
C D W D G G D C S G | N S G G S R Y I A G p.480
. . . . . . g.69665
GGTGGAGGTACTGGGAGTATTGGAGTTGGACAGCCCTGGCAGTTTGGTGGAGGAATAAAC c.1500
G G G T G S I G V G Q P W Q F G G G I N p.500
. . . . . . g.69725
AGTGTCTCTTACTGTAATCAGGGATGTGCGAATTCCTGGCTCGCTGATAAGTTCTGTGAC c.1560
S V S Y C N Q G C A N S W L A D K F C D p.520
. . . . . | 13 . g.70571
CAAGCATGCAATGTCTTGTCCTGTGGGTTTGATGCTGGCGACTGTGGGCAAG | ATCATTTT c.1620
Q A C N V L S C G F D A G D C G Q D | H F p.540
. . . . . . g.70631
CATGAATTGTATAAAGTGATCCTTCTCCCAAACCAGACTCACTATATTATTCCAAAAGGT c.1680
H E L Y K V I L L P N Q T H Y I I P K G p.560
. . . . . . g.70691
GAATGCCTGCCTTATTTCAGCTTTGCAGAAGTAGCCAAAAGAGGAGTTGAAGGTGCCTAT c.1740
E C L P Y F S F A E V A K R G V E G A Y p.580
. . . . . . g.70751
AGTGACAATCCAATAATTCGACATGCTTCTATTGCCAACAAGTGGAAAACCATCCACCTC c.1800
S D N P I I R H A S I A N K W K T I H L p.600
. . . . . . g.70811
ATAATGCACAGTGGAATGAATGCCACCACAATACATTTTAATCTCACGTTTCAAAATACA c.1860
I M H S G M N A T T I H F N L T F Q N T p.620
. . . . . . g.70871
AACGATGAAGAGTTCAAAATGCAGATAACAGTGGAGGTGGACACAAGGGAGGGACCAAAA c.1920
N D E E F K M Q I T V E V D T R E G P K p.640
. . . . . . g.70931
CTGAATTCTACAGCCCAGAAGGGTTACGAAAATTTAGTTAGTCCCATAACACTTCTTCCA c.1980
L N S T A Q K G Y E N L V S P I T L L P p.660
. . . . . . g.70991
GAGGCGGAAATCCTTTTTGAGGATATTCCCAAAGAAAAACGCTTCCCGAAGTTTAAGAGA c.2040
E A E I L F E D I P K E K R F P K F K R p.680
. . . . . . g.71051
CATGATGTTAACTCAACAAGGAGAGCCCAGGAAGAGGTGAAAATTCCCCTGGTAAATATT c.2100
H D V N S T R R A Q E E V K I P L V N I p.700
. . . . . . g.71111
TCACTCCTTCCAAAAGACGCCCAGTTGAGTCTCAATACCTTGGATTTGCAACTGGAACAT c.2160
S L L P K D A Q L S L N T L D L Q L E H p.720
. . . . . . g.71171
GGAGACATCACTTTGAAAGGATACAATTTGTCCAAGTCAGCCTTGCTGAGATCATTTCTG c.2220
G D I T L K G Y N L S K S A L L R S F L p.740
. . . . . . g.71231
ATGAACTCACAGCATGCTAAAATAAAAAATCAAGCTATAATAACAGATGAAACAAATGAC c.2280
M N S Q H A K I K N Q A I I T D E T N D p.760
. . . . . . g.71291
AGTTTGGTGGCTCCACAGGAAAAACAGGTTCATAAAAGCATCTTGCCAAACAGCTTAGGA c.2340
S L V A P Q E K Q V H K S I L P N S L G p.780
. . . . . . g.71351
GTGTCTGAAAGATTGCAGAGGTTGACTTTTCCTGCAGTGAGTGTAAAAGTGAATGGTCAT c.2400
V S E R L Q R L T F P A V S V K V N G H p.800
. . . . . . g.71411
GACCAGGGTCAGAATCCACCCCTGGACTTGGAGACCACAGCAAGATTTAGAGTGGAAACT c.2460
D Q G Q N P P L D L E T T A R F R V E T p.820
. . . . . . g.71471
CACACCCAAAAAACCATAGGCGGAAATGTGACAAAAGAAAAGCCCCCATCTCTGATTGTT c.2520
H T Q K T I G G N V T K E K P P S L I V p.840
. . . . . . g.71531
CCACTGGAAAGCCAGATGACAAAAGAAAAGAAAATCACAGGGAAAGAAAAAGAGAACAGT c.2580
P L E S Q M T K E K K I T G K E K E N S p.860
. . . . . . g.71591
AGAATGGAGGAAAATGCTGAAAATCACATAGGCGTTACTGAAGTGTTACTTGGAAGAAAG c.2640
R M E E N A E N H I G V T E V L L G R K p.880
. . . . . . g.71651
CTGCAGCATTACACAGATAGTTACTTGGGCTTTTTGCCATGGGAGAAAAAAAAGTATTTC c.2700
L Q H Y T D S Y L G F L P W E K K K Y F p.900
. | 14 . . . . . g.74149
CAAGATCTTCTCGAC | GAAGAAGAGTCATTGAAGACACAATTGGCATACTTCACTGATAGC c.2760
Q D L L D | E E E S L K T Q L A Y F T D S p.920
. . . . . . g.74209
AAAAATACTGGGAGGCAACTAAAAGATACATTTGCAGATTCCCTCAGATATGTAAATAAA c.2820
K N T G R Q L K D T F A D S L R Y V N K p.940
. . . . . . g.74269
ATTCTAAATAGCAAGTTTGGATTCACATCGCGGAAAGTCCCTGCTCACATGCCTCACATG c.2880
I L N S K F G F T S R K V P A H M P H M p.960
. . . | 15 . . . g.74546
ATTGACCGGATTGTTATGCAAGAACTGCAAGATAT | GTTCCCTGAAGAATTTGACAAGACG c.2940
I D R I V M Q E L Q D M | F P E E F D K T p.980
. . . . . . g.74606
TCATTTCACAAAGTGCGCCATTCTGAGGATATGCAGTTTGCCTTCTCTTATTTTTATTAT c.3000
S F H K V R H S E D M Q F A F S Y F Y Y p.1000
. . . . . . g.74666
CTCATGAGTGCAGTGCAGCCACTGAATATATCTCAAGTCTTTGATGAAGTTGATACAGAT c.3060
L M S A V Q P L N I S Q V F D E V D T D p.1020
. . . . . . g.74726
CAATCTGGTGTCTTGTCTGACAGAGAAATCCGAACACTGGCTACCAGAATTCACGAACTG c.3120
Q S G V L S D R E I R T L A T R I H E L p.1040
. | 16 . . . . . g.75769
CCGTTAAGTTTGCAG | GATTTGACAGGTCTGGAACACATGCTAATAAATTGCTCAAAAATG c.3180
P L S L Q | D L T G L E H M L I N C S K M p.1060
. . . . . . g.75829
CTTCCTGCTGATATCACGCAGCTAAATAATATTCCACCAACTCAGGAATCCTACTATGAT c.3240
L P A D I T Q L N N I P P T Q E S Y Y D p.1080
| 17 . . . . . g.78261
CCCAACCTG | CCACCGGTCACTAAAAGTCTAGTAACAAACTGTAAACCAGTAACTGACAAA c.3300
P N L | P P V T K S L V T N C K P V T D K p.1100
. . . | 18 . . . g.78582
ATCCACAAAGCATATAAGGACAAAAACAAATATAG | GTTTGAAATCATGGGAGAAGAAGAA c.3360
I H K A Y K D K N K Y R | F E I M G E E E p.1120
. . . . . . g.78642
ATCGCTTTTAAAATGATTCGTACCAACGTTTCTCATGTGGTTGGCCAGTTGGATGACATA c.3420
I A F K M I R T N V S H V V G Q L D D I p.1140
. | 19 . . . . . g.82374
AGAAAAAACCCTAG | GAAGTTTGTTTGCCTGAATGACAACATTGACCACAATCATAAAGAT c.3480
R K N P R | K F V C L N D N I D H N H K D p.1160
. . . . . . g.82434
GCTCAGACAGTGAAGGCTGTTCTCAGGGACTTCTATGAATCCATGTTCCCCATACCTTCC c.3540
A Q T V K A V L R D F Y E S M F P I P S p.1180
. . . . . . g.82494
CAATTTGAACTGCCAAGAGAGTATCGAAACCGTTTCCTTCATATGCATGAGCTGCAGGAA c.3600
Q F E L P R E Y R N R F L H M H E L Q E p.1200
| 20 . . . . . . g.86734
TG | GAGGGCTTATCGAGACAAATTGAAGTTTTGGACCCATTGTGTACTAGCAACATTGATT c.3660
W | R A Y R D K L K F W T H C V L A T L I p.1220
. . . | 21 . . . g.88653
ATGTTTACTATATTCTCATTTTTTGCTGAGCAG | TTAATTGCACTTAAGCGGAAGATATTT c.3720
M F T I F S F F A E Q | L I A L K R K I F p.1240
. . . . . g.88704
CCCAGAAGGAGGATACACAAAGAAGCTAGTCCCAATCGAATCAGAGTATAG c.3771
P R R R I H K E A S P N R I R V X p.1256
. . . . . . g.88764
aagatcttcatttgaaaaccatctacctcagcatttactgagcattttaaaactcagctt c.*60
. . . . . . g.88824
cacagagatgtctttgtgatgtgatgcttagcagtttggcccgaagaaggaaaatatcca c.*120
. . . . . . g.88884
gtaccatgctgttttgtggcatgaatatagcccactgaccaggaattatttaaccaaccc c.*180
. . . . . . g.88944
actgaaaacttgtgtgttgagcagctctgaactgattttacttttaaagaatttgctcat c.*240
. . . . . . g.89004
ggacctgtcatcctttttataaaaaggctcactgacaagagacagctgttaatttcccac c.*300
. . . . . . g.89064
agcaatcattgcagactaactttattaggagaagcctatgccagctgggagtgattgcta c.*360
. . . . . . g.89124
agaggctccagtctttgcattccaaagccttttgctaaagttttgcactttttttttttc c.*420
. . . . . . g.89184
atttcccatttttaagtagttactaagttaactagttattcttgcttctgagtataacga c.*480
. . . . . . g.89244
attgggatgtctaaacctatttttatagatgttatttaaataatgcagcaatatcacctc c.*540
. . . . . . g.89304
ttattgacaatacctaaattatgagttttattaatatttaagactgtaaatggtcttaaa c.*600
. . . . . . g.89364
ccactaactactgaagagctcaatgattgacatctgaaatgctttgtaattattgacttc c.*660
. . . . . . g.89424
agcccctaagaatgctatgatttcacgtgcaggtctaatttcaaagggctagagttagta c.*720
. . . . . . g.89484
ctacttaccagatgtaattatgttttggaaatgtacatattcaaacagaagtgcctcatt c.*780
. . . . . . g.89544
ttagaaatgagtagtgctgatggcactggcacattacagtggtgtcttgtttaatactca c.*840
. . . . . . g.89604
ttggtatattccagtagctatctctctcagttggtttttgatagaacagaggccagcaaa c.*900
. . . . . . g.89664
ctttctttgtaaaaggctggttagtaaattattgcaggccacctgtgtctttgtcataca c.*960
. . . . . . g.89724
ttcttcttgctgttgtttagtttgttttttttcaaacaaccctctaaaaatgtaaaaacc c.*1020
. . . . . . g.89784
atgtttagcttgcagctgtacaaaaactgcccaccagccagatgtgaccctcaggccatc c.*1080
. . . . . . g.89844
atttgccaatcactgagaattagtttttgttgttgttgttgttgttgtttttgagacaga c.*1140
. . . . . . g.89904
gtctctctctgttgcccaggctggagtgcagtggcgcaatctcagctcactgcaacctcc c.*1200
. . . . . . g.89964
gcctcccgggttcaagcagttctgtctcagccttctgagtagctgggactacaggtgcat c.*1260
. . . . . . g.90024
gccaccacaccctgctaatttttgtatttttagtagagacgggggttccaccatattggt c.*1320
. . . . . . g.90084
caggcttatcttgaactcctgacctcaggtgatccacctgcctctgcctcccaaagtgct c.*1380
. . . . . . g.90144
gagattacaggcataagccagtgcacccagccgagaattagtatttttatgtatggttaa c.*1440
. . . . . . g.90204
accttggcgtctagccatattttatgtcataatacaatggatttgtgaagagcagattcc c.*1500
. . . . . . g.90264
atgagtaactctgacaggtattttagatcatgatctcaacaatattcttccaaaatggca c.*1560
. . . . . . g.90324
tacatcttttgtacaaagaacttgaaatgtaaatactgtgtttgtgctgtaagagttgtg c.*1620
. . . . g.90371
tatttcaaaaactgaaatctcataaaaagttaaatttttgtctgaca c.*1667
(downstream sequence)
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