(used for variant description)
(last modified June 23, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006208.2 in the ENPP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008206.1, covering ENPP1 transcript NM_006208.2.
(upstream sequence)
. . g.5020
ccggagcggccggggccacg c.-1
. . . . . . g.5080
ATGGAGCGCGACGGCTGCGCGGGGGGCGGGAGCCGCGGCGGCGAGGGCGGGCGCGCTCCC c.60
M E R D G C A G G G S R G G E G G R A P p.20
. . . . . . g.5140
CGGGAGGGCCCGGCGGGGAACGGCCGCGATCGGGGCCGCAGCCACGCTGCCGAGGCGCCC c.120
R E G P A G N G R D R G R S H A A E A P p.40
. . . . . . g.5200
GGGGACCCGCAGGCGGCCGCGTCCTTGCTGGCCCCTATGGACGTGGGGGAGGAGCCGCTG c.180
G D P Q A A A S L L A P M D V G E E P L p.60
. . . . . . g.5260
GAGAAGGCGGCGCGCGCCCGCACTGCCAAGGACCCCAACACCTATAAAGTACTCTCGCTG c.240
E K A A R A R T A K D P N T Y K V L S L p.80
| 02 . . . . . . g.44820
| GTATTGTCAGTATGTGTGTTAACAACAATACTTGGTTGTATATTTGGGTTGAAACCAAGC c.300
| V L S V C V L T T I L G C I F G L K P S p.100
. | 03 . . . . . g.47021
TGTGCCAAAGAAG | TTAAAAGTTGCAAAGGTCGCTGTTTCGAGAGAACATTTGGGAACTGT c.360
C A K E V | K S C K G R C F E R T F G N C p.120
. . . . . . g.47081
CGCTGTGATGCTGCCTGTGTTGAGCTTGGAAACTGCTGTTTAGATTACCAGGAGACGTGC c.420
R C D A A C V E L G N C C L D Y Q E T C p.140
. | 04 . . . . . g.48176
ATAGAACCAG | AACATATATGGACTTGCAACAAATTCAGGTGTGGTGAGAAAAGGTTGACC c.480
I E P E | H I W T C N K F R C G E K R L T p.160
. . . . . . g.48236
AGAAGCCTCTGTGCCTGTTCAGATGACTGCAAGGACAAGGGCGACTGCTGCATCAACTAC c.540
R S L C A C S D D C K D K G D C C I N Y p.180
. | 05 . . . . . g.49203
AGTTCTGTGTGTCAAG | GTGAGAAAAGTTGGGTAGAAGAACCATGTGAGAGCATTAATGAG c.600
S S V C Q G | E K S W V E E P C E S I N E p.200
. | 06. . . . . g.51953
CCACAGTGCCCAGCAGG | GTTTGAAACGCCTCCTACCCTCTTATTTTCTTTGGATGGATTC c.660
P Q C P A G | F E T P P T L L F S L D G F p.220
. . . . . | 07 . g.55657
AGGGCAGAATATTTACACACTTGGGGTGGACTTCTTCCTGTTATTAGCAAACTAA | AAAAA c.720
R A E Y L H T W G G L L P V I S K L K | K p.240
. . . . . . g.55717
TGTGGAACATATACTAAAAACATGAGACCGGTATATCCAACAAAAACTTTCCCCAATCAC c.780
C G T Y T K N M R P V Y P T K T F P N H p.260
. | 08 . . . . . g.57416
TACAGCATTGTCACC | GGATTGTATCCAGAATCTCATGGCATAATCGACAATAAAATGTAT c.840
Y S I V T | G L Y P E S H G I I D N K M Y p.280
. . . . . . g.57476
GATCCCAAAATGAATGCTTCCTTTTCACTTAAAAGTAAAGAGAAATTTAATCCTGAGTGG c.900
D P K M N A S F S L K S K E K F N P E W p.300
. | 09 . . . . . g.58624
TACAAAGGAGAACCA | ATTTGGGTCACAGCTAAGTATCAAGGCCTCAAGTCTGGCACATTT c.960
Y K G E P | I W V T A K Y Q G L K S G T F p.320
. . . . . . g.58684
TTCTGGCCAGGATCAGATGTGGAAATTAACGGAATTTTCCCAGACATCTATAAAATGTAT c.1020
F W P G S D V E I N G I F P D I Y K M Y p.340
| 10 . . . . . . g.61545
AATGG | TTCAGTACCATTTGAAGAAAGGATTTTAGCTGTTCTTCAGTGGCTACAGCTTCCT c.1080
N G | S V P F E E R I L A V L Q W L Q L P p.360
. | 11 . . . . . g.61899
AAAGATGAAAG | ACCACACTTTTACACTCTGTATTTAGAAGAACCAGATTCTTCAGGTCAT c.1140
K D E R | P H F Y T L Y L E E P D S S G H p.380
. . | 12 . . . . g.65038
TCATATGGACCAGTCAGCAGTGAA | GTCATCAAAGCCTTGCAGAGGGTTGATGGTATGGTT c.1200
S Y G P V S S E | V I K A L Q R V D G M V p.400
. . . . . . g.65098
GGTATGCTGATGGATGGTCTGAAAGAGCTGAACTTGCACAGATGCCTGAACCTCATCCTT c.1260
G M L M D G L K E L N L H R C L N L I L p.420
. | 13 . . . . . g.66389
ATTTCAGATCATG | GCATGGAACAAGGCAGTTGTAAGAAATACATATATCTGAATAAATAT c.1320
I S D H G | M E Q G S C K K Y I Y L N K Y p.440
. . . . . . g.66449
TTGGGGGATGTTAAAAATATTAAAGTTATCTATGGACCTGCAGCTCGATTGAGACCCTCT c.1380
L G D V K N I K V I Y G P A A R L R P S p.460
. . | 14 . . . | 15. g.69910
GATGTCCCAGATAAATACTATTCAT | TTAACTATGAAGGCATTGCCCGAAATCTTTCT | TGC c.1440
D V P D K Y Y S F | N Y E G I A R N L S | C p.480
. . . . . . g.69970
CGGGAACCAAACCAGCACTTCAAACCTTACCTGAAACATTTCTTACCTAAGCGTTTGCAC c.1500
R E P N Q H F K P Y L K H F L P K R L H p.500
. . . . . . g.70030
TTTGCTAAGAGTGATAGAATTGAGCCCTTGACATTCTATTTGGACCCTCAGTGGCAACTT c.1560
F A K S D R I E P L T F Y L D P Q W Q L p.520
| 16 . . . . . . g.71307
GCATT | GAATCCCTCAGAAAGGAAATATTGTGGAAGTGGATTTCATGGCTCTGACAATGTA c.1620
A L | N P S E R K Y C G S G F H G S D N V p.540
. | 17 . . . . . g.72805
TTTTCAAATATGCAA | GCCCTCTTTGTTGGCTATGGACCTGGATTCAAGCATGGCATTGAG c.1680
F S N M Q | A L F V G Y G P G F K H G I E p.560
. . . . | 18 . . g.73993
GCTGACACCTTTGAAAACATTGAAGTCTATAACTTAATGTGTG | ATTTACTGAATTTGACA c.1740
A D T F E N I E V Y N L M C D | L L N L T p.580
. . . . . . g.74053
CCGGCTCCTAATAACGGAACTCATGGAAGTCTTAACCACCTTCTAAAGAATCCTGTTTAT c.1800
P A P N N G T H G S L N H L L K N P V Y p.600
. . . . . . g.74113
ACGCCAAAGCATCCCAAAGAAGTGCACCCCCTGGTACAGTGCCCCTTCACAAGAAACCCC c.1860
T P K H P K E V H P L V Q C P F T R N P p.620
. . . | 19 . . . g.75553
AGAGATAACCTTGGCTGCTCATGTAACCCTTCG | ATTTTGCCGATTGAGGATTTTCAAACA c.1920
R D N L G C S C N P S | I L P I E D F Q T p.640
. . | 20 . . . . g.76899
CAGTTCAATCTGACTGTGGCAGAAG | AGAAGATTATTAAGCATGAAACTTTACCCTATGGA c.1980
Q F N L T V A E E | K I I K H E T L P Y G p.660
. . . . . . g.76959
AGACCTAGAGTTCTCCAGAAGGAAAACACCATCTGTCTTCTTTCCCAGCACCAGTTTATG c.2040
R P R V L Q K E N T I C L L S Q H Q F M p.680
. . . . . . g.77019
AGTGGATACAGCCAAGACATCTTAATGCCCCTTTGGACATCCTATACCGTGGACAGAAAT c.2100
S G Y S Q D I L M P L W T S Y T V D R N p.700
| 21 . . . . . . g.79389
| GACAGTTTCTCTACGGAAGACTTCTCCAACTGTCTGTACCAGGACTTTAGAATTCCTCTT c.2160
| D S F S T E D F S N C L Y Q D F R I P L p.720
. . . . . . g.79449
AGTCCTGTCCATAAATGTTCATTTTATAAAAATAACACCAAAGTGAGTTACGGGTTCCTC c.2220
S P V H K C S F Y K N N T K V S Y G F L p.740
. | 22 . . . . . g.80728
TCCCCACCAC | AACTAAATAAAAATTCAAGTGGAATATATTCTGAAGCTTTGCTTACTACA c.2280
S P P Q | L N K N S S G I Y S E A L L T T p.760
. . . | 23 . . . g.81944
AATATAGTGCCAATGTACCAGAGTTTTCAAG | TTATATGGCGCTACTTTCATGACACCCTA c.2340
N I V P M Y Q S F Q V | I W R Y F H D T L p.780
. . . . . . g.82004
CTGCGAAAGTATGCTGAAGAAAGAAATGGTGTCAATGTCGTCAGTGGTCCTGTGTTTGAC c.2400
L R K Y A E E R N G V N V V S G P V F D p.800
. . . . | 24 . . g.83562
TTTGATTATGATGGACGTTGTGATTCCTTAGAGAATCTGAGGCA | AAAAAGAAGAGTCATC c.2460
F D Y D G R C D S L E N L R Q | K R R V I p.820
. . . . . . g.83622
CGTAACCAAGAAATTTTGATTCCAACTCACTTCTTTATTGTGCTAACAAGCTGTAAAGAT c.2520
R N Q E I L I P T H F F I V L T S C K D p.840
. . . . . . g.83682
ACATCTCAGACGCCTTTGCACTGTGAAAACCTAGACACCTTAGCTTTCATTTTGCCTCAC c.2580
T S Q T P L H C E N L D T L A F I L P H p.860
. . | 25. . . . g.87358
AGGACTGATAACAGCGAGAGCTGTGTG | CATGGGAAGCATGACTCCTCATGGGTTGAAGAA c.2640
R T D N S E S C V | H G K H D S S W V E E p.880
. . . . . . g.87418
TTGTTAATGTTACACAGAGCACGGATCACAGATGTTGAGCACATCACTGGACTCAGCTTC c.2700
L L M L H R A R I T D V E H I T G L S F p.900
. . . . . . g.87478
TATCAACAAAGAAAAGAGCCAGTTTCAGACATTTTAAAGTTGAAAACACATTTGCCAACC c.2760
Y Q Q R K E P V S D I L K L K T H L P T p.920
. g.87496
TTTAGCCAAGAAGACTGA c.2778
F S Q E D X p.925
. . . . . . g.87556
tatgttttttatccccaaacaccatgaatctttttgagagaaccttatattttatatagt c.*60
. . . . . . g.87616
cctctagctacactattgcattgttcagaaactgtcgaccagagttagaacggagccctc c.*120
. . . . . . g.87676
ggtgatgcggacatctcagggaaacttgcgtactcagcacagcagtggagagtgttcctg c.*180
. . . . . . g.87736
ttgaatcttgcacatatttgaatgtgtaagcattgtatacattgatcaagttcgggggaa c.*240
. . . . . . g.87796
taaagacagaccacacctaaaactgcctttctgcttctcttaaaggagaagtagctgtga c.*300
. . . . . . g.87856
acattgtctggataccagatatttgaatctttcttactattggtaataaaccttgatggc c.*360
. . . . . . g.87916
attgggcaaacagtagacttatagtagggttggggtagcccatgttatgtgactatcttt c.*420
. . . . . . g.87976
atgagaattttaaagtggttctggatatcttttaacttggagtttcatttcttttcattg c.*480
. . . . . . g.88036
taatcaaaaaaaaaattaacagaagccaaaatacttctgagaccttgtttcaatctttgc c.*540
. . . . . . g.88096
tgtatatcccctcaaaatccaagttattaatcttatgtgttttctttttaattttttgat c.*600
. . . . . . g.88156
tggatttctttagatttaatggttcaaatgagttcaactttgagggacgatctttgaata c.*660
. . . . . . g.88216
tacttacctattataaaatcttactttgtatttgtatttaaaaaagaaaaatattcctat c.*720
. . . . . . g.88276
cctgctcactggtaattaacataggtttaaaatggcttcaaatgtggccctatagacggt c.*780
. . . . . . g.88336
taaaattgtaccttatcttggcaaaacttcagagcaccagtcagtgcatgcaaggtgcca c.*840
. . . . . . g.88396
ttttttattgagatgcttagaatgtttctttctgtgcacaagacttaccctaccagcagc c.*900
. . . . . . g.88456
agagccattctctgttgagtggttcattttgaagttccacagattgaagagaacatgcca c.*960
. . . . . . g.88516
ccaatcacctcacatcttcttggtggacatgataaatgacacaatgaacttgatttcttt c.*1020
. . . . . . g.88576
actaccttgactgtagctttttatccctacctgtgaaccttcaaagactgcattaacttt c.*1080
. . . . . . g.88636
taggctacataggtccaattgaggtataatatcagtacaccaaagatttttatatgtcct c.*1140
. . . . . . g.88696
tcgtgtgaccattcttcaacggcctaagggccagctgcaaagacttttggaaaatacaat c.*1200
. . . . . . g.88756
ttacaactcaaaattatttaataatttaggaagttgctttttttttttttttttttcagt c.*1260
. . . . . . g.88816
cctgcagtttcctgaagctctgtatatgatatttttttcagcctgcttctctctgttgtt c.*1320
. . . . . . g.88876
cagattaggtaattttattcttctgtctcgaagctcactgattctttattctgtctaatc c.*1380
. . . . . . g.88936
tgttctgctgttgagcccatttattcctgatttttatattttagttattgtatgttttat c.*1440
. . . . . . g.88996
ttctaaaatttccattcagtttttctttatatcttctatttgctgagaatttctgtctct c.*1500
. . . . . . g.89056
ttgctgagactttctacgttttcatttgtttcaagtgcatttatacttgcttgttgaaga c.*1560
. . . . . . g.89116
atttttatgatggctgctgtaaaatccttatcagataattccaacatctgtcacctcatt c.*1620
. . . . . . g.89176
gtttgcatctactgatggtcttttttccattcggaaacattttcctgtttcttggtgtgt c.*1680
. . . . . . g.89236
ggaatgattttttattgaaacctggatatttttaggtattatgttatgagactatgggtc c.*1740
. . . . . . g.89296
ttatttaaaccttctgctttagccaactttctcagataccaccacagcaggggaattggg c.*1800
. . . . . . g.89356
agcactgcttcattattaccaggtgtggctaggagtccaggttccccagtcagcctccct c.*1860
. . . . . . g.89416
ttatactgagtaacagggtcccctcattactactgggcaaggtgagaattcagtttccca c.*1920
. . . . . . g.89476
ttaggtctttattgattcttccctggctggaatgtgcagcggcaccttttggtgcaccct c.*1980
. . . . . . g.89536
gggaatctccactaatgctatgggacagagtgaccaggaagagcttcattacaccaggtg c.*2040
. . . . . . g.89596
ggaatgaaattcccagtagcctacacagccttctccgacaccactctggagttgtattct c.*2100
. . . . . . g.89656
tccagcacacaaacatacacaatttaactcaaagcatcttagcagagcttaattaaatgg c.*2160
. . . . . . g.89716
atagatgcctgttccctttgctggataccaagaatacaaaagtcagggagttggggcacc c.*2220
. . . . . . g.89776
tctttacagcttggtgagagtgtaagtctggactccccactcagcatttgctggtatggg c.*2280
. . . . . . g.89836
tggggccatggtgtttttccatggtgtttggttggagtacagccttttttacccttgctt c.*2340
. . . . . . g.89896
ggctacccttttctggtcctttggcaggagagagcaggactctcttagggcttttttttc c.*2400
. . . . . . g.89956
ccctgcatttattgacatttccaggttgctgactttttcagctccaagttggaaatatat c.*2460
. . . . . . g.90016
gagctgaaaagaaaatgtagggaactcatcacagtgttgttacttgggccccaatgttcc c.*2520
. . . . . . g.90076
tagcctattttctgtctactattcagagtcttgctgtgttttaatataatatccaggatt c.*2580
. . . . . . g.90136
tttatatgcatttagcagaaggatgtctactctgcctttgtagaagtgtctcactgattt c.*2640
. . . . . . g.90196
ttacatatttttccagcacacaaacatacacaatttaactcaaagcatcttagcagagct c.*2700
. . . . . . g.90256
taattaaatggatagatgtctgttccctttgctggacgccaagaatacaaaaaagaacaa c.*2760
. . . . . . g.90316
gtgacaattttctctgtcttagggagaagagacagcagaagtgtaaatgatccctaaaga c.*2820
. . . . . . g.90376
gtgatagatgttatcatgaagccacaggaggggtgccaggctgcacaaaagagacactgg c.*2880
. . . . . . g.90436
atgcttcttggtagtagaggcagtggcttcccagccttggggctaaggcttgtagggtga c.*2940
. . . . . . g.90496
attggaacttttcagatgagcaaggcaaagaagggaccttctaacattccttggatggaa c.*3000
. . . . . . g.90556
catttttgacattttcccatttacagctacttatattttctacaagtgtcactgtgacca c.*3060
. . . . . . g.90616
acttatgtacacatactttttcttgcttagttataataatctgttcttaaagaaaatgtc c.*3120
. . . . . . g.90676
agtctctacattctatgctgactgttaaggaaagagcacccacatctgctcctacttagc c.*3180
. . . . . . g.90736
tttttttctgtggttcttacacagtattcctttttttcttttcttgaaagagactcctcc c.*3240
. . . . . . g.90796
tttcttttcttttcttgaaagagttttaaacagataagatggcaaaagtgactgatctct c.*3300
. . . . . . g.90856
actcccccagtttgaatggtaaatttgaatggtaaattcccatgaacatatatggaaatg c.*3360
. . . . . . g.90916
tctttatcctactttctccaataaaggctgttcttagcttttcaaatgcaaagtgaaacc c.*3420
. . . . . . g.90976
tttatttatcttgatttcttttttttttttttttttttttttttttttgagatgctctgt c.*3480
. . . . . . g.91036
cacccaggctggagtgcagtggcaagatcttggctcactgcaagctccgcctcccaggtt c.*3540
. . . . . . g.91096
cacgccattctcctggctcagcctcccgagtaactgggactacaggcacctgccgtcacg c.*3600
. . . . . . g.91156
cctggctaattttttgtatttttagtagagaatggagtttcaccgtgttagccaggatgg c.*3660
. . . . . . g.91216
tctcgatctcctgaccttgtgatctgcccgcctcggcctcccaaagtgctgggattacag c.*3720
. . . . . . g.91276
gctcgagccactgcctccagcctatcctgatttctactgtcatgcctcacatcagtcctt c.*3780
. . . . . . g.91336
ttttttttttttgagacagagtctcgctctgtggcccaggctagactgcagtggcatgat c.*3840
. . . . . . g.91396
ctcggctcactgcaacctccacctccggggttctagcaattctcctgcctcagcctcctg c.*3900
. . . . . . g.91456
agtagctgggattataggcgcatgccacacctggctttttgtattttagtggagatgggg c.*3960
. . . . . . g.91516
tttcactgtgttgctcaggctggtcttgatctcctgagctcagacaatccccccgccttg c.*4020
. . . . . . g.91576
gcctcccaaagtgctaggattataggcgagagctgctgtgtgcttcttaagtgaggtaag c.*4080
. . . . . . g.91636
taacttccatagaaaatttccatcagttcattcatgaaagaacaaagaacctggcaaaac c.*4140
. . . . . . g.91696
ttaaaaaaacgtttccaagaatcagataaaagaggacaaaccttagggagaagaaggcag c.*4200
. . . . . . g.91756
ctgctcatttccagcaggggaagtagctgcatagagtacaaggactggtaggcctgttgg c.*4260
. . . . . . g.91816
ctgttcctgtttaaggagacaagatgggcatggaacagggaccaccccctcctctgggag c.*4320
. . . . . . g.91876
aagctgttacccccttcacttttcctcctctgtcattacccacaatcactctccttcttt c.*4380
. . . . . . g.91936
gcgctatggtaggtgtttacccatcataggaatgggcatttgaactttgaaactgaatgt c.*4440
. . . . . . g.91996
ggtgattacacttcatgctgaagcttttcacatgagtgctttcataagcattaagtaaaa c.*4500
. . . . . . g.92056
ttttataatgactgcagtccaaggacattttccctggtttttggccagtctaaatattgt c.*4560
. . . . . . g.92116
aagagagagagaagaaaagtgtacggaatataattgtctctaagctaagaaatgtggatg c.*4620
. . g.92140
ttcaaataaaacatacgtacagaa c.*4644
(downstream sequence)
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