(used for variant description)
(last modified June 11, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_002662.4 in the PLD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029851.1, covering PLD1 transcript NM_002662.4.
(upstream sequence)
g.5007
ccctccc c.-121
. . . . . . g.5067
tcccgctgagctccagctgtgccagaggcacccgagccctgagagtccgccgccaacgcg c.-61
. . . | 02 . . g.77443
caggtgctagcggccccttcgccctgcag | cccctttgcttttactctgtccaaagttaac c.-1
. . . . . . g.77503
ATGTCACTGAAAAACGAGCCACGGGTAAATACCTCTGCACTGCAGAAAATTGCTGCTGAC c.60
M S L K N E P R V N T S A L Q K I A A D p.20
. . . . . . g.77563
ATGAGTAATATCATAGAAAATCTGGACACGCGGGAACTCCACTTTGAGGGAGAGGAGGTA c.120
M S N I I E N L D T R E L H F E G E E V p.40
. . . . | 03 . . g.77855
GACTACGACGTGTCTCCCAGCGATCCCAAGATACAAGAAG | TGTATATCCCTTTCTCTGCT c.180
D Y D V S P S D P K I Q E V | Y I P F S A p.60
. . . . . . g.77915
ATTTATAACACTCAAGGATTTAAGGAGCCTAATATACAGACGTATCTCTCCGGCTGTCCA c.240
I Y N T Q G F K E P N I Q T Y L S G C P p.80
. . . . | 04 . g.79869
ATAAAAGCACAAGTTCTGGAAGTGGAACGCTTCACATCTACAACAAGG | GTACCAAGTATT c.300
I K A Q V L E V E R F T S T T R | V P S I p.100
. . . . . . g.79929
AATCTTTACACTATTGAATTAACACATGGGGAATTTAAATGGCAAGTTAAGAGGAAATTC c.360
N L Y T I E L T H G E F K W Q V K R K F p.120
. . . . . . g.79989
AAGCATTTTCAAGAATTTCACAGAGAGCTGCTCAAGTACAAAGCCTTTATCCGCATCCCC c.420
K H F Q E F H R E L L K Y K A F I R I P p.140
. | 05 . . . . . g.80570
ATTCCCACTAGAAG | ACACACGTTTAGGAGGCAAAACGTCAGAGAGGAGCCTCGAGAGATG c.480
I P T R R | H T F R R Q N V R E E P R E M p.160
. . . . . . g.80630
CCCAGTTTGCCCCGTTCATCTGAAAACATGATAAGAGAAGAACAATTCCTTGGTAGAAGA c.540
P S L P R S S E N M I R E E Q F L G R R p.180
| 06 . . . . . . g.82045
| AAACAACTGGAAGATTACTTGACAAAGATACTAAAAATGCCCATGTATAGAAACTATCAT c.600
| K Q L E D Y L T K I L K M P M Y R N Y H p.200
| 07 . . . . . . g.89472
GCCACA | ACAGAGTTTCTTGATATAAGCCAGCTGTCTTTCATCCATGATTTGGGACCAAAG c.660
A T | T E F L D I S Q L S F I H D L G P K p.220
| 08 . . . . . . g.90761
GGCAT | AGAAGGTATGATAATGAAAAGATCTGGAGGACACAGAATACCAGGCTTGAATTGC c.720
G I | E G M I M K R S G G H R I P G L N C p.240
. . . | 09 . . g.101471
TGTGGTCAGGGAAGAGCCTGCTACAGATGGTCAAAAAG | ATGGTTAATAGTGAAAGATTCC c.780
C G Q G R A C Y R W S K R | W L I V K D S p.260
. . . . . . g.101531
TTTTTATTGTATATGAAACCAGACAGCGGTGCCATTGCCTTCGTCCTGCTGGTAGACAAA c.840
F L L Y M K P D S G A I A F V L L V D K p.280
. . . . . . g.101591
GAATTCAAAATTAAGGTGGGGAAGAAGGAGACAGAAACGAAATATGGAATCCGAATTGAT c.900
E F K I K V G K K E T E T K Y G I R I D p.300
. | 10 . . . . . g.105834
AATCTTTCAAG | GACACTTATTTTAAAATGCAACAGCTATAGACATGCTCGGTGGTGGGGA c.960
N L S R | T L I L K C N S Y R H A R W W G p.320
. . . . . . g.105894
GGGGCTATAGAAGAATTCATCCAGAAACATGGCACCAACTTTCTCAAAGATCATCGATTT c.1020
G A I E E F I Q K H G T N F L K D H R F p.340
. . . . | 11 . . g.106675
GGGTCATATGCTGCTATCCAAGAGAATGCTTTAGCTAAATG | GTATGTTAATGCCAAAGGA c.1080
G S Y A A I Q E N A L A K W | Y V N A K G p.360
. . . . . . g.106735
TATTTTGAAGATGTGGCAAATGCAATGGAAGAGGCAAATGAAGAGATTTTTATCACAGAC c.1140
Y F E D V A N A M E E A N E E I F I T D p.380
| 12 . . . . . . g.115723
TGGTG | GCTGAGTCCAGAAATCTTCCTGAAACGCCCAGTGGTTGAGGGAAATCGTTGGAGG c.1200
W W | L S P E I F L K R P V V E G N R W R p.400
. . | 13. . . . g.123085
TTGGACTGCATTCTTAAACGAAAAGCA | CAACAAGGAGTGAGGATCTTCATAATGCTCTAC c.1260
L D C I L K R K A | Q Q G V R I F I M L Y p.420
. . . . . . g.123145
AAAGAGGTGGAACTCGCTCTTGGCATCAATAGTGAATACACCAAGAGGACTTTGATGCGT c.1320
K E V E L A L G I N S E Y T K R T L M R p.440
. | 14 . . . . g.126660
CTACATCCCAACATAAAG | GTGATGAGACACCCGGATCATGTGTCATCCACCGTCTATTTG c.1380
L H P N I K | V M R H P D H V S S T V Y L p.460
. . . . . . g.126720
TGGGCTCACCATGAGAAGCTTGTCATCATTGACCAATCGGTGGCCTTTGTGGGAGGGATT c.1440
W A H H E K L V I I D Q S V A F V G G I p.480
. . . . . . g.126780
GACCTGGCCTATGGAAGGTGGGACGACAATGAGCACAGACTCACAGACGTGGGCAGTGTG c.1500
D L A Y G R W D D N E H R L T D V G S V p.500
. . . | 15 . . g.127931
AAGCGGGTCACTTCAGGACCGTCTCTGGGTTCCCTCCCA | CCTGCCGCAATGGAGTCTATG c.1560
K R V T S G P S L G S L P | P A A M E S M p.520
. . . . . . g.127991
GAATCCTTAAGACTCAAAGATAAAAATGAGCCTGTTCAAAACCTACCCATCCAGAAGAGT c.1620
E S L R L K D K N E P V Q N L P I Q K S p.540
. . . . . . g.128051
ATTGATGATGTGGATTCAAAACTGAAAGGAATAGGAAAGCCAAGAAAGTTCTCCAAATTT c.1680
I D D V D S K L K G I G K P R K F S K F p.560
. . . . . . g.128111
AGTCTCTACAAGCAGCTCCACAGGCACCACCTGCACGACGCAGATAGCATCAGCAGCATT c.1740
S L Y K Q L H R H H L H D A D S I S S I p.580
. | 16 . . . . . g.128743
GACAGCACCTCCA | GTTATTTTAATCACTATAGAAGTCATCACAATTTAATCCATGGTTTA c.1800
D S T S S | Y F N H Y R S H H N L I H G L p.600
. . . . . . g.128803
AAACCCCACTTCAAACTCTTTCACCCGTCCAGTGAGTCTGAGCAAGGACTCACTAGACCT c.1860
K P H F K L F H P S S E S E Q G L T R P p.620
| 17. . . . . . g.137853
CATGCTG | ATACCGGGTCCATCCGTAGTTTACAGACAGGTGTGGGAGAGCTGCATGGGGAA c.1920
H A D | T G S I R S L Q T G V G E L H G E p.640
. . . . . . g.137913
ACCAGATTCTGGCATGGAAAGGACTACTGCAATTTCGTCTTCAAAGACTGGGTTCAACTT c.1980
T R F W H G K D Y C N F V F K D W V Q L p.660
. | 18 . . . . . g.138705
GATAAACCTTTTGCTG | ATTTCATTGACAGGTACTCCACGCCCCGGATGCCCTGGCATGAC c.2040
D K P F A D | F I D R Y S T P R M P W H D p.680
. . . . . . g.138765
ATTGCCTCTGCAGTCCACGGGAAGGCGGCTCGTGATGTGGCACGTCACTTCATCCAGCGC c.2100
I A S A V H G K A A R D V A R H F I Q R p.700
. | 19 . . . . . g.140926
TGGAACTTCACAAAA | ATTATGAAATCAAAATATCGGTCCCTTTCTTATCCTTTTCTGCTT c.2160
W N F T K | I M K S K Y R S L S Y P F L L p.720
. . . . . . g.140986
CCAAAGTCTCAAACAACAGCCCATGAGTTGAGATATCAAGTGCCTGGGTCTGTCCATGCT c.2220
P K S Q T T A H E L R Y Q V P G S V H A p.740
| 20 . . . . . g.153375
AACGTACAG | TTGCTCCGCTCTGCTGCTGATTGGTCTGCTGGTATAAAGTACCATGAAGAG c.2280
N V Q | L L R S A A D W S A G I K Y H E E p.760
. . . . . . g.153435
TCCATCCACGCCGCTTACGTCCATGTGATAGAGAACAGCAGGCACTATATCTATATCGAA c.2340
S I H A A Y V H V I E N S R H Y I Y I E p.780
| 21 . . . . . . g.156253
| AACCAGTTTTTCATAAGCTGTGCTGATGACAAAGTTGTGTTCAACAAGATAGGCGATGCC c.2400
| N Q F F I S C A D D K V V F N K I G D A p.800
. . | 22 . . . g.170502
ATTGCCCAGAGGATCCTGAAAGCTCACAG | GGAAAACCAGAAATACCGGGTATATGTCGTG c.2460
I A Q R I L K A H R | E N Q K Y R V Y V V p.820
. . . . . . g.170562
ATACCACTTCTGCCAGGGTTCGAAGGAGACATTTCAACCGGCGGAGGAAATGCTCTACAG c.2520
I P L L P G F E G D I S T G G G N A L Q p.840
. . | 23 . . . . g.172642
GCAATCATGCACTTCAACTACAG | AACCATGTGCAGAGGAGAAAATTCCATCCTTGGACAG c.2580
A I M H F N Y R | T M C R G E N S I L G Q p.860
. | 24 . . . . . g.195021
TTAAAAGCAGAGC | TTGGTAATCAGTGGATAAATTACATATCATTCTGTGGTCTTAGAACA c.2640
L K A E L | G N Q W I N Y I S F C G L R T p.880
. . . . . . g.195081
CATGCAGAGCTCGAAGGAAACCTAGTAACTGAGCTTATCTATGTCCACAGCAAGTTGTTA c.2700
H A E L E G N L V T E L I Y V H S K L L p.900
. . | 25 . . . g.203094
ATTGCTGATGATAACACTGTTATTATTG | GCTCTGCCAACATAAATGACCGCAGCATGCTG c.2760
I A D D N T V I I G | S A N I N D R S M L p.920
. . . . . . g.203154
GGAAAGCGTGACAGTGAAATGGCTGTCATTGTGCAAGATACAGAGACTGTTCCTTCAGTA c.2820
G K R D S E M A V I V Q D T E T V P S V p.940
. . . . . . g.203214
ATGGATGGAAAAGAGTACCAAGCTGGCCGGTTTGCCCGAGGACTTCGGCTACAGTGCTTT c.2880
M D G K E Y Q A G R F A R G L R L Q C F p.960
| 26 . . . . . . g.210136
AG | GGTTGTCCTTGGCTATCTTGATGACCCAAGTGAGGACATTCAGGATCCAGTGAGTGAC c.2940
R | V V L G Y L D D P S E D I Q D P V S D p.980
. . . . . . g.210196
AAATTCTTCAAGGAGGTGTGGGTTTCAACAGCAGCTCGAAATGCTACAATTTATGACAAG c.3000
K F F K E V W V S T A A R N A T I Y D K p.1000
| 27 . . . . . . g.212252
| GTTTTCCGGTGCCTTCCCAATGATGAAGTACACAATTTAATTCAGCTGAGAGACTTTATA c.3060
| V F R C L P N D E V H N L I Q L R D F I p.1020
. . . . . . g.212312
AACAAGCCCGTATTAGCTAAGGAAGATCCCATTCGAGCTGAGGAGGAACTGAAGAAGATC c.3120
N K P V L A K E D P I R A E E E L K K I p.1040
. . . . . . g.212372
CGTGGATTTTTGGTGCAATTCCCCTTTTATTTCTTGTCTGAAGAAAGCCTACTGCCTTCT c.3180
R G F L V Q F P F Y F L S E E S L L P S p.1060
. . . . g.212417
GTTGGGACCAAAGAGGCCATAGTGCCCATGGAGGTTTGGACTTAA c.3225
V G T K E A I V P M E V W T X p.1074
. . . . . . g.212477
gagatattcattggcagctcaaagacttccaccctggagaccacactgcacacagtgact c.*60
. . . . . . g.212537
tcctggggatgtcatagccaaagccaggcctgacgcattctcgtatccaacccaaggacc c.*120
. . . . . . g.212597
ttttggaatgactggggagggctgcagtcacattgatgtaaggactgtaaacatcagcaa c.*180
. . . . . . g.212657
gactttataattccttctgcctaacttgtaaaaagggggctgcattcttgttggtagcat c.*240
. . . . . . g.212717
gtactctgttgagtaaaacacatattcaaattccgtataccaaaatccatttcctttgta c.*300
. . . . . . g.212777
acaagaatttaccagtaactgtgatctaggttgccaaaagttgtctgaatctccttattc c.*360
. . . . . . g.212837
ttctctgatcttcatttatgcagccaatgtctagctggacctgccctcatcttgcagttc c.*420
. . . . . . g.212897
atacaggcactgtttgagagattgtttattattagatgttgtaatgctgcttcaagattc c.*480
. . . . . . g.212957
ttcatggttacatgggatgcccctgctcatctggtcctgaagtagtaacattcacccaaa c.*540
. . . . . . g.213017
tgaggatatagtcattattccttttcagtcactgtacgaacacggcagactttagcctac c.*600
. . . . . . g.213077
acagtagactgtgttaggcacttctggtaacattgacactgtatcttgacaccactaagc c.*660
. . . . . . g.213137
aacaggaaggaataaattccaatattgagacagagatttatttcattttgctcccaaagg c.*720
. . . . . . g.213197
cactgacaacatgagtccttgtgattaggcccacctgatcaaatgtaaaaacatgcatgg c.*780
. . . . . . g.213257
gatatttgattacgtaacaaccagctaaaactgagagcacacagccttcggaaaccccca c.*840
. . . . . . g.213317
aggtgtcgaggaggatcagatccagataagagaagatgattccttctagtcctgtaaaat c.*900
. . . . . . g.213377
ttcctgtcatccttagctgctgggttgattgaaatttgatctctacatttcaaaatcaaa c.*960
. . . . . . g.213437
ctagtgaatacagtttgtctttcaagagaatcagaggcatcgtaactcctaccaagttag c.*1020
. . . . . . g.213497
taagtatgagtctaaccttgtttgacattcaggtcttctgctacattatcttctttgaga c.*1080
. . . . . . g.213557
aaaattaattgattataaaatatgtgctacttcacttacattattaaatatgtattaacg c.*1140
. . . . . . g.213617
cctctcaccagggcttccagtgaagttacaatgccctagtctgtgaattagtctggaaac c.*1200
. . . . . . g.213677
gtgtttttccttttcggatgttagagtaccctttgataaactaaattttactaagctgaa c.*1260
. . . . . . g.213737
caactctgacagtctaaagagctaatgtgggttaccaaaaggcctgtacctgtaaaacaa c.*1320
. . . . . . g.213797
aatgcaggtgtaatgattatacatgtctatggattacctggacatactctcatttgggtt c.*1380
. . . . . . g.213857
gttcttcaaagaagcaagcagccgatccctgttttcataaagctaatacttcagttggaa c.*1440
. . . . . . g.213917
aaattaaacaggagcacaaagtcagggataggggttagcagaagagagaaatagtgtcac c.*1500
. . . . . . g.213977
atcaagggcaggatctcatagctagggaacatttcacaaataaggtgagattttgtaacc c.*1560
. . . . . . g.214037
aataataaaaatgaatgtttttataagtaaataacttatttttcatatggctaaagatgg c.*1620
. . . . . . g.214097
taaaatgacttcattctatagccattgtaaataagaatttgctattgatgaaagaagttc c.*1680
. . . . . . g.214157
agattggcatttgaagtattgagtgtatgggatctctaaggatttcttagattttatatt c.*1740
. . . . . . g.214217
taaatattttttaaaccttagaggagtcaacaaactggctcttgattttcagcaccctac c.*1800
. . . . . . g.214277
tctcatgaaaaaagcctgaaaggaccctttcccttataagtaatttaatccaatttctcc c.*1860
. . . . . . g.214337
ccattttatagatgaggaaactgaggctcagatcagatgagaactcacttaaatccactc c.*1920
. . . . . . g.214397
aatgtgtagatggtagagctgggactagcaacattgctgcagcccattgttggcctctct c.*1980
. . . . . . g.214457
cttcactttatcattgcccaagaatgaggatatgcagtaaacagaattcaggcaagatac c.*2040
. . . . . . g.214517
ctctaagctgttttgaaccctctgatattttgtatttatgtgtttgtctgtctcccccta c.*2100
. . . . . . g.214577
ctagaatgtaagctccatggggcagggacttcactgtattttgttcatagtgtatcccca c.*2160
. . . . . . g.214637
gagcctggaccagtgcttggcacataggagatggcaataaatgcttgtagaattaataaa c.*2220
. . . . . . g.214697
caaggtgaaggagagagctaatgaaatgaaaatcttagtctcatataagaagtcttacta c.*2280
. . . . . . g.214757
ctgctttctatggcaagttccttttctattgcatcttcccaaagacaagatgctcatctg c.*2340
. . . . . . g.214817
caaaggggtgataagatttacttggagggattttatggaaaattcagtgcaataattgct c.*2400
. . . . . . g.214877
tttttttttttttttgcagtagcagtttacatagtacagcattctgcaaaaattgcatga c.*2460
. . . . . . g.214937
aatgtggacacaagatgtactgtatgacttaattacctgtcattctctgacaccattact c.*2520
. . . . . . g.214997
acctactagaagttcaaataatttatctttaacattgcaatatctgataaactttttaaa c.*2580
. . . . . . g.215057
atgtaaataattcaaagccttgaaaatctatcatgaatctgctcaacatttcaaagtgac c.*2640
. . . g.215090
tattttgaaatgcctataaatgctatatacctg c.*2673
(downstream sequence)
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