(used for variant description)
(last modified December 19, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_145167.2 in the PIGM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012238.1, covering PIGM transcript NM_145167.2.
(upstream sequence)
. g.5014
agcggaagcgagac c.-241
. . . . . . g.5074
cgtccatccagaggaaggcaagtttttggctcgggcggctgagaagaccgcgcggggctg c.-181
. . . . . . g.5134
gagacaggtagcagtacgggggcggggcttcatgccggatgtgatagtctgcagtcgttt c.-121
. . . . . . g.5194
cggttggcagcctggcgggtgggagatgcggcggccacctgctgcaaagaaccgaaggga c.-61
. . . . . . g.5254
aggttagaagtacgaaggcagtttggagctggggctaagcagctgtcgcacggtcagatc c.-1
. . . . . . g.5314
ATGGGCTCCACCAAGCACTGGGGCGAATGGCTCCTGAACTTGAAGGTGGCTCCAGCCGGC c.60
M G S T K H W G E W L L N L K V A P A G p.20
. . . . . . g.5374
GTCTTTGGTGTGGCCTTTCTAGCCAGAGTCGCCCTGGTTTTCTATGGCGTCTTCCAGGAC c.120
V F G V A F L A R V A L V F Y G V F Q D p.40
. . . . . . g.5434
CGGACCCTGCACGTGAGGTATACGGACATCGACTACCAGGTCTTCACCGACGCCGCGCGC c.180
R T L H V R Y T D I D Y Q V F T D A A R p.60
. . . . . . g.5494
TTCGTCACGGAGGGGCGCTCGCCTTACCTGAGAGCCACGTACCGTTACACCCCGCTGCTG c.240
F V T E G R S P Y L R A T Y R Y T P L L p.80
. . . . . . g.5554
GGTTGGCTCCTCACTCCCAACATCTACCTCAGCGAGCTCTTTGGAAAGTTTCTCTTCATC c.300
G W L L T P N I Y L S E L F G K F L F I p.100
. . . . . . g.5614
AGCTGCGACCTCCTCACCGCTTTCCTCTTATACCGCCTGCTGCTGCTGAAGGGGCTGGGG c.360
S C D L L T A F L L Y R L L L L K G L G p.120
. . . . . . g.5674
CGCCGCCAGGCTTGTGGCTACTGTGTCTTTTGGCTTCTTAACCCCCTGCCTATGGCAGTA c.420
R R Q A C G Y C V F W L L N P L P M A V p.140
. . . . . . g.5734
TCCAGCCGCGGTAATGCGGACTCTATTGTCGCCTCCCTGGTCCTGATGGTCCTCTACTTG c.480
S S R G N A D S I V A S L V L M V L Y L p.160
. . . . . . g.5794
ATAAAGAAAAGACTCGTCGCGTGTGCAGCTGTATTCTATGGTTTCGCGGTGCATATGAAG c.540
I K K R L V A C A A V F Y G F A V H M K p.180
. . . . . . g.5854
ATATATCCAGTGACTTACATCCTTCCCATAACCCTCCACCTGCTTCCAGATCGCGACAAT c.600
I Y P V T Y I L P I T L H L L P D R D N p.200
. . . . . . g.5914
GACAAAAGCCTCCGTCAATTCCGGTACACTTTCCAGGCTTGTTTGTACGAGCTCCTGAAA c.660
D K S L R Q F R Y T F Q A C L Y E L L K p.220
. . . . . . g.5974
AGGCTGTGTAATCGGGCTGTGCTGCTGTTTGTAGCAGTTGCTGGACTCACGTTTTTTGCC c.720
R L C N R A V L L F V A V A G L T F F A p.240
. . . . . . g.6034
CTGAGCTTTGGTTTTTACTATGAGTACGGCTGGGAATTTTTGGAACACACCTACTTTTAT c.780
L S F G F Y Y E Y G W E F L E H T Y F Y p.260
. . . . . . g.6094
CACCTGACTAGGCGGGATATCCGTCACAACTTTTCTCCGTACTTCTACATGCTGTATTTG c.840
H L T R R D I R H N F S P Y F Y M L Y L p.280
. . . . . . g.6154
ACTGCAGAGAGCAAGTGGAGTTTTTCCCTGGGAATTGCTGCATTCCTGCCACAGCTCATC c.900
T A E S K W S F S L G I A A F L P Q L I p.300
. . . . . . g.6214
TTGCTTTCAGCTGTGTCTTTCGCCTATTACAGAGACCTCGTTTTTTGTTGTTTTCTTCAT c.960
L L S A V S F A Y Y R D L V F C C F L H p.320
. . . . . . g.6274
ACGTCCATTTTTGTGACTTTTAACAAAGTCTGCACCTCCCAGTACTTTCTTTGGTACCTC c.1020
T S I F V T F N K V C T S Q Y F L W Y L p.340
. . . . . . g.6334
TGCTTACTGCCTCTTGTGATGCCACTAGTCAGAATGCCTTGGAAAAGAGCTGTAGTTCTC c.1080
C L L P L V M P L V R M P W K R A V V L p.360
. . . . . . g.6394
CTAATGTTATGGTTTATAGGGCAGGCCATGTGGCTGGCTCCTGCCTATGTTCTAGAGTTT c.1140
L M L W F I G Q A M W L A P A Y V L E F p.380
. . . . . . g.6454
CAAGGAAAGAACACCTTTCTGTTTATTTGGTTAGCTGGTTTGTTCTTTCTTCTTATCAAT c.1200
Q G K N T F L F I W L A G L F F L L I N p.400
. . . . . . g.6514
TGTTCCATCCTGATTCAAATTATTTCCCATTACAAAGAAGAACCCCTGACAGAGAGAATC c.1260
C S I L I Q I I S H Y K E E P L T E R I p.420
. g.6526
AAATATGACTAG c.1272
K Y D X p.423
. . . . . . g.6586
tgtatgttccacaccctctgctactgtgttacattctgattgtcttgtatggaccagaag c.*60
. . . . . . g.6646
agagctttgggacattttttctgaacattctaagcattctagtgaaagttcccatgttcc c.*120
. . . . . . g.6706
aacagaacttaaaagcaatgtttgccttatatataaaagggacacaataattgaggtcca c.*180
. . . . . . g.6766
ccttctaggaaatcctaggactcgtttatttgggacatggtgggaataaaggtcacatat c.*240
. . . . . . g.6826
tggaaaatggaaaggctgatgaaactatcagatactaaaacattcttaaaatagaggaat c.*300
. . . . . . g.6886
atagttagagacatcaggtttaagccagtatttgttcctgttttacaatgcttctgtctt c.*360
. . . . . . g.6946
aagctgtgtcttaacttttaacacccatcttttctttctaaagctttcctgacagctgtg c.*420
. . . . . . g.7006
aaaatccaaaaaatattcttaaactgtgtatggtggcccttgcctgtagtctcagcactt c.*480
. . . . . . g.7066
tgggaggctgaggtgggagggtcgcttgagttcaggagttctagacccacctggggcaag c.*540
. . . . . . g.7126
atggtgagacctagtctcaaaaaaaaaaaaaaaaattagccaggtgttgtggtgcacccc c.*600
. . . . . . g.7186
tgtagtcatagctgcatgggaggctgaggtgggagaattgcttgagcccagagcaagacc c.*660
. . . . . . g.7246
ctgtctcaaaaaaaaaaaaaaaaaaaaaaaggaaaggacaactttttagatagaaaagta c.*720
. . . . . . g.7306
ttaaataatactaagatgcttagtagtattattttagagagttttaaacttctatattaa c.*780
. . . . . . g.7366
atgtggggtcttacaagataatccaaagactttgggaggccaaggcgggcagatcacgag c.*840
. . . . . . g.7426
gtcaggagattgagaccatcctggctaacacggtgaaacccctctctactaaaaatacaa c.*900
. . . . . . g.7486
aaaattagccgggcgtggtgggtgcctgtagtcccagctactcctcgggaggctgaggca c.*960
. . . . . . g.7546
ggagaatggcgtgaactccggaggtggagcctgtagtgagccgagatggcaccactgcgc c.*1020
. . . . . . g.7606
tccagcctgggcgacagagcaagactccatatcaaaaaaaaaaaaaaaaaaagataatcc c.*1080
. . . . . . g.7666
aaagaatttaaattgtaatcatgtttcatgtatttgttttattacttacttttatagcac c.*1140
. . . . . . g.7726
ttagtcccagtggtattagactgctatttggtttcatacaaaaaggattaaatttaaatt c.*1200
. . . . . . g.7786
cattcatgtttagacttgagttattacatttttaaaactatcatcttgcctttaatgttt c.*1260
. . . . . . g.7846
gtggtcctacacaaactattagtacatttcagtatcctcttacccctttgtttttaagtt c.*1320
. . . . . . g.7906
tttgattgctaaagcaagacttttttcttctagaatttaagtcaaccaagtgttatctat c.*1380
. . . . . . g.7966
gttgtaaaaatggataatagtagattttaggtgataaaacaacttgttagtaagacattt c.*1440
. . . . . . g.8026
cctagcttaaaaaaaaaaatcaaaaattccatgatagaaatgcagacctgtgagggaaac c.*1500
. . . . . . g.8086
tcctgaaaagcataagaagcatcccagagagccatgggttttctagaccagagaatttag c.*1560
. . . . . . g.8146
agggagattgtggaactgaggcttaggtggtcagatcgtttcccttatcactgtaatatt c.*1620
. . . . . . g.8206
tctgggggaaaaatgctttctgagttgtttaaacaagcatccttacatttttttttttaa c.*1680
. . . . . . g.8266
ttaaacagcctgtctaggcttgggattccctaatactacagtagcagtatatgaatatga c.*1740
. . . . . . g.8326
ttttgtgattgtgttttttaaaagataagtaatttgatgaactgttcttttgcagtcaga c.*1800
. . . . . . g.8386
aaacactcacaaaaagacaaaaaaagttccacagtattatatttcatgtcagttcaggcc c.*1860
. . . . . . g.8446
taaaatcctttgcaaataagatgtttataggctggtcacaattaacaatgttattattgg c.*1920
. . . . . . g.8506
cagcacttcttggatggataccttttgggacctttcattagaaagagggaaagaatgggg c.*1980
. . . . . . g.8566
tggttttgtatgggctcctgtttggggtaaaaatagcagagtcagttgctgaggacaatg c.*2040
. . . . . . g.8626
accttccttataacatttagtttcatacccatattaggtcttgtcttgaggaccctttat c.*2100
. . . . . . g.8686
atgtgcttgtttactagtggccttccagccatagcattcttacctttttttcctattcta c.*2160
. . . . . . g.8746
agaattaaaaaaaaaaattatagagccagcaagggaggaggcaggaaacagaaatcgaat c.*2220
. . . . . . g.8806
ttcatcattccagtatagttgtccctttttttgtatttctgacttggttttataattata c.*2280
. . . . . . g.8866
tttacttactaattattgttttttaacattctttattgtggcttactcttcatacttaga c.*2340
. . . . . . g.8926
attgaaattgttggacatcacatgtatattcacattataaatacatcattcttccactgt c.*2400
. . . . . . g.8986
tagacctttagattgcttccagtttttaatattctaaataagactttcaacattttctgt c.*2460
. . . . . . g.9046
gttttagctcattctcttaggacattcttagaagttagaaacatttctgctgggatcgtt c.*2520
. . . . . . g.9106
ggagggaacttcaaactttggaatctttcctgcaagaaattctttaccaaagaaaggcag c.*2580
. . . . . . g.9166
gtgtttcttaaagggatgcaaaagatattttgcactttgtatgttccaaaacatttagta c.*2640
. . . . . . g.9226
agttaactaaaaaaatgagttaatttggtttcttgggggattttaattttttaatttgtt c.*2700
. . . . . . g.9286
ttctggttatgtaaaaaaaatgttttttttttgcttcttatcacaatccttttgtttcct c.*2760
. . . g.9322
ttttaatcctttaataacaccttcaaattttataag c.*2796
(downstream sequence)
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