(used for variant description)
(last modified December 29, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001080951.1 in the PLAGL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009384.1, covering PLAGL1 transcript NM_001080951.1.
(upstream sequence)
. . . . g.5043
cttttccgcgccgccgagtcggagctgcgccgcacgcccagcg c.-721
. . . . . . g.5103
gccgcccggacccgccggccggagctgacccagtgggccacgggctccggactccagaac c.-661
. . . . . | 02 . g.84439
tttccaagcgggggaaacttggcggcgggtaggtaggaaaggcag | attgttcctgcctga c.-601
. . . | 03 . . . g.100655
ttcataaacatcgtgattggctttt | gattgctgtcacgtctaatgtggctgctgcctcgt c.-541
. . . . | 04 . . g.103391
gtcacatctgaaactcatctgtacctcacttagaaag | tggttctgattagacaagacttt c.-481
. . . . . | 05 g.104790
tcgttgcagtcgacagaaacctaatgggaccattgaagaattccaaacag | gtatttgcat c.-421
. . . | 06 . . . g.109094
aggaatcagaggagttaatctt | gtttgaatcttcagacaaacttctgggaggactcggtc c.-361
. . . . | 07 . . g.121162
cctgcctcgcagcagatgttccctgtcactcagtag | ccaatccgggggacccaggacatg c.-301
. . . . . . g.121222
ccccagctatagtgatgcagattacctttctgctcctgaatcgcacctgtgcctcagact c.-241
. . . . . . g.121282
ttctcccctcagcttgagactgcatgtaaactgggatgtgtgaaagcaggaagcaaagct c.-181
. . . . . . g.121342
agtgacagctgagaggtccatgtctgggtagaaccaggcccacgatgctgcctctcccgt c.-121
. . . . . . g.121402
ggtctggagttcagctgcagggactctgctgatgtgcccagcaccatcgttctgtttgtg c.-61
. . . . . . g.121462
cttaaatggcacagcatttggtcagcacatctgaaaaggaaggtgtgagaagcaaagccc c.-1
. . . . . . g.121522
ATGGCCACGTTCCCCTGCCAGTTATGTGGCAAGACGTTCCTCACCCTGGAGAAGTTCACG c.60
M A T F P C Q L C G K T F L T L E K F T p.20
. . . . . . g.121582
ATTCACAATTATTCCCACTCCAGGGAGCGGCCGTACAAGTGTGTGCAGCCTGACTGTGGC c.120
I H N Y S H S R E R P Y K C V Q P D C G p.40
. . . | 08 . . . g.126963
AAAGCCTTTGTTTCCAGATATAAATTGATGAG | GCATATGGCTACCCATTCTCCCCAGAAA c.180
K A F V S R Y K L M R | H M A T H S P Q K p.60
. . . . . . g.127023
TCTCACCAGTGTGCTCACTGTGAGAAGACGTTCAACCGGAAAGACCACCTGAAAAACCAC c.240
S H Q C A H C E K T F N R K D H L K N H p.80
. . . . . . g.127083
CTCCAGACCCACGACCCCAACAAAATGGCCTTTGGGTGTGAGGAGTGTGGGAAGAAGTAC c.300
L Q T H D P N K M A F G C E E C G K K Y p.100
. . . . . . g.127143
AACACCATGCTGGGCTATAAGAGGCACCTGGCCCTCCATGCGGCCAGCAGTGGGGACCTC c.360
N T M L G Y K R H L A L H A A S S G D L p.120
. . . . . . g.127203
ACCTGTGGGGTCTGTGCCCTGGAGCTAGGGAGCACCGAGGTGCTACTGGACCACCTCAAA c.420
T C G V C A L E L G S T E V L L D H L K p.140
. . . . . . g.127263
GCCCATGCGGAAGAGAAGCCCCCTAGCGGAACCAAGGAAAAGAAGCACCAGTGCGACCAC c.480
A H A E E K P P S G T K E K K H Q C D H p.160
. . . . . . g.127323
TGTGAAAGATGCTTCTACACCCGGAAGGATGTGCGACGCCACCTGGTGGTCCACACAGGA c.540
C E R C F Y T R K D V R R H L V V H T G p.180
. . . . . . g.127383
TGCAAGGACTTCCTGTGCCAGTTCTGTGCCCAGAGATTTGGGCGCAAGGATCACCTCACC c.600
C K D F L C Q F C A Q R F G R K D H L T p.200
. . . . . . g.127443
CGGCATACCAAGAAGACCCACTCACAGGAGCTGATGAAAGAGAGCTTGCAGACCGGAGAC c.660
R H T K K T H S Q E L M K E S L Q T G D p.220
. . . . . . g.127503
CTTCTGAGCACCTTCCACACCATCTCGCCTTCATTCCAACTGAAGGCTGCTGCCTTGCCT c.720
L L S T F H T I S P S F Q L K A A A L P p.240
. . . . . . g.127563
CCTTTCCCTTTAGGAGCTTCTGCCCAGAACGGGCTTGCAAGTAGCTTGCCAGCTGAGGTC c.780
P F P L G A S A Q N G L A S S L P A E V p.260
. . . . . . g.127623
CATAGCCTCACCCTCAGTCCCCCAGAACAAGCCGCCCAGCCTATGCAGCCGCTGCCAGAG c.840
H S L T L S P P E Q A A Q P M Q P L P E p.280
. . . . . . g.127683
TCCCTGGCCTCCCTCCACCCCTCGGTATCCCCTGGCTCTCCTCCGCCACCCCTTCCCAAT c.900
S L A S L H P S V S P G S P P P P L P N p.300
. . . . . . g.127743
CACAAGTACAACACCACTTCTACCTCATACTCCCCACTTGCAAGCCTGCCCCTCAAAGCA c.960
H K Y N T T S T S Y S P L A S L P L K A p.320
. . . . . . g.127803
GATACTAAAGGTTTTTGCAATATCAGTTTGTTTGAGGACTTGCCTCTGCAAGAGCCTCAG c.1020
D T K G F C N I S L F E D L P L Q E P Q p.340
. . . . . . g.127863
TCACCTCAAAAGCTCAACCCAGGTTTTGATCTGGCTAAGGGAAATGCTGGTAAAGTAAAC c.1080
S P Q K L N P G F D L A K G N A G K V N p.360
. . . . . . g.127923
CTGCCCAAGGAGCTGCCTGCAGATGCTGTGAACCTAACAATACCTGCCTCTCTGGACCTG c.1140
L P K E L P A D A V N L T I P A S L D L p.380
. . . . . . g.127983
TCCCCCCTGTTGGGCTTCTGGCAGCTGCCCCCTCCTGCTACCCAAAATACCTTTGGGAAT c.1200
S P L L G F W Q L P P P A T Q N T F G N p.400
. . . . . . g.128043
AGCACTCTTGCCCTGGGGCCTGGGGAATCTTTGCCCCACAGGTTAAGCTGTCTGGGGCAG c.1260
S T L A L G P G E S L P H R L S C L G Q p.420
. . . . . . g.128103
CAGCAGCAAGAACCCCCACTTGCCATGGGCACTGTGAGCCTGGGCCAGCTCCCCCTGCCC c.1320
Q Q Q E P P L A M G T V S L G Q L P L P p.440
. . . . . . g.128163
CCCATCCCTCATGTGTTCTCAGCTGGCACTGGCTCTGCCATCCTGCCTCATTTCCATCAT c.1380
P I P H V F S A G T G S A I L P H F H H p.460
. g.128175
GCATTCAGATAA c.1392
A F R X p.463
. . . . . . g.128235
ttgatttttaaagtgtatttttcgtattctggaagatgttttaagaagcattttaaatgt c.*60
. . . . . . g.128295
cagttacaatatgagaaagatttggaaaacgagactgggactatggcttattcagtgatg c.*120
. . . . . . g.128355
actggcttgagatgataagagaattctcgaactgcatgtattgtgccaatctgtcctgag c.*180
. . . . . . g.128415
tgttcatgctttgtaccaaatttaatgaacgcgtgttctgtaatcaaactgcaaatattg c.*240
. . . . . . g.128475
tcataaccaacatccaaaatgacggctgctatatataagtgtttgtcatatggaatttaa c.*300
. . . . . . g.128535
tcgtaagccatgatcataatgttaactaaataactttatgtggcactgcctagtaaggga c.*360
. . . . . . g.128595
actatggaaaggtttggatttctccaaatctgggagaattttcaaaataagaaaataacc c.*420
. . . . . . g.128655
tttatatgatatactatgactaggctgtgtatttcttttcagggatttttctaccttcag c.*480
. . . . . . g.128715
ggttggatgtagtttagttactattaccatagccaacctgtagttttacatatacatttt c.*540
. . . . . . g.128775
cttgtggagcaatagagttctccattttacagaagcattttaaatgtagtttgaatattt c.*600
. . . . . . g.128835
tccacaagatgctgcaatgtgagttatcacttcatttatcttaaagaaagactaaactgg c.*660
. . . . . . g.128895
ttgtcagttacatctgacagaaaaaaaaaaaaaatcactgtgtaaccaggttaagtggta c.*720
. . . . . . g.128955
aaataatccaggcgtcagtcaaaggcattttgctgactttaatattgattatatttttaa c.*780
. . . . . . g.129015
caggaatttaagaaaatattactggaattaaaaatatatatatattaaacaagaattttc c.*840
. . . . . . g.129075
tttgctctgtctagcttaaactactactcaagctgcttaagttcttaagtattgtttgta c.*900
. . . . . . g.129135
atcaccaataaataagtgcatttgtaattcatcagtcattattagcttttattaaaagaa c.*960
. . . . . . g.129195
gattacgttttacaatgtaactataatctcttgaatttggtatcttattaatgagtttta c.*1020
. . . . . . g.129255
aagatgtaaaacctaaccttttttaaagctccattgtcttatgtttttagaggcttttcc c.*1080
. . . . g.129299
gtaaacatatatcttacatataataaacttttcaaatcttgcaa c.*1124
(downstream sequence)
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