(used for variant description)
(last modified November 22, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_176787.4 in the PIGN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000018.9, covering PIGN transcript NM_176787.4.
(upstream sequence)
. . g.5028
gagaattatcgcgatagcagcagcggcc c.-421
. . . . . . g.5088
gggcaggtattgggggcgttccggaattgaggggtggttgtagtggtggcttaggaatac c.-361
. . . . . . g.5148
cctcccggctatcgcttcagtgggtagaggggaccactgcccgagagctttaatggagct c.-301
. . . . . . g.5208
gggtcctgccttcgcgctgaggagccctcgttttcgagatcaggcctgaccgggataagc c.-241
. | 02 . . . . . g.28455
tccag | aaacagtattatgtctcagtcctgtgcaaagtgagatgagctgtagcctttggag c.-181
. . . . . . g.28515
acctataattttgaacatagatgttccttaaaagctaaatctttttgaacagatgatgat c.-121
. . | 03 . . . . g.29776
aaacctggaag | agattcaccaacaatagcaaattacacactggcttggaaagtactccca c.-61
. . . | 04. . . g.30703
tgttccgtttgatcttggcaatttaatg | ctgttcttgaagactaattagttacactggat c.-1
. . . . . . g.30763
ATGCTGCTGTTCTTTACTTTGGGATTGCTTATACATTTTGTGTTCTTCGCCTCCATCTTT c.60
M L L F F T L G L L I H F V F F A S I F p.20
. . . . . . g.30823
GACATTTATTTTACATCTCCTTTGGTTCATGGAATGACTCCTCAGTTTACACCATTGCCT c.120
D I Y F T S P L V H G M T P Q F T P L P p.40
. . . . . . g.30883
CCTCCAGCGAGAAGATTAGTGTTGTTTGTTGCTGATGGCCTTCGAGCAGATGCACTTTAC c.180
P P A R R L V L F V A D G L R A D A L Y p.60
. . . . | 05 . . g.34267
GAATTAGATGAAAATGGAAACTCTAGAGCACCGTTTATTAG | GAATATCATAATGCATGAA c.240
E L D E N G N S R A P F I R | N I I M H E p.80
. . . . . . g.34327
GGCAGCTGGGGCATATCTCATACACGTGTGCCAACAGAATCTCGGCCAGGTCATGTAGCT c.300
G S W G I S H T R V P T E S R P G H V A p.100
. . . . | 06 . . g.34846
CTGATAGCTGGGTTTTATGAAGATGTCAGTGCAGTTGCCAAAG | GATGGAAGGAAAATCCT c.360
L I A G F Y E D V S A V A K G | W K E N P p.120
. . . . . . g.34906
GTAGAGTTTGATTCTCTTTTTAATGAAAGTAAATACACATGGAGCTGGGGAAGCCCAGAT c.420
V E F D S L F N E S K Y T W S W G S P D p.140
. . | 07 . . . . g.37443
ATCCTGCCTATGTTTGCCAAAG | GTGCTAGTGGAGACCACGTTTATACATATAGTTATGAT c.480
I L P M F A K G | A S G D H V Y T Y S Y D p.160
. . . . . . g.37503
GCTAAAAGAGAGGATTTTGGTGCTCAAGATGCAACAAAACTGGATACGTGGGTTTTTGAT c.540
A K R E D F G A Q D A T K L D T W V F D p.180
| 08 . . . . . g.43769
AATGTTAAG | GACTTCTTTCATCATGCCAGAAACAACCAGTCTTTGTTTTCTAAAATAAAT c.600
N V K | D F F H H A R N N Q S L F S K I N p.200
. . . . . . g.43829
GAAGAGAAAATAGTTTTTTTCTTACATTTATTAGGAATAGATACAAACGGACATGCTCAT c.660
E E K I V F F L H L L G I D T N G H A H p.220
. | 09 . . . . . g.45001
CGACCATCCTCGAG | AGACTACAAGCACAATATTAAAAAAGTTGATGATGGAGTTAAAGAA c.720
R P S S R | D Y K H N I K K V D D G V K E p.240
. . . . . . g.45061
ATCGTGTCTATGTTTAACCACTTCTATGGAAATGATGGGAAAACAACATTTATCTTTACC c.780
I V S M F N H F Y G N D G K T T F I F T p.260
. . | 10 . . . . g.46066
TCTGACCATGGAATGACAGACTGGG | GTTCCCATGGGGCTGGTCATCCTTCAGAGACTTTA c.840
S D H G M T D W G | S H G A G H P S E T L p.280
. . . . . . g.46126
ACTCCTTTAGTCACTTGGGGAGCTGGAATCAAGTATCCCCAAAGAGTATCAGCTCAGCAA c.900
T P L V T W G A G I K Y P Q R V S A Q Q p.300
. . | 11 . . . . g.48748
TTTGATGATGCATTTTTGAAAG | AGTGGAGATTGGAGAATTGGAAGAGGCTAGATGTCAAT c.960
F D D A F L K E | W R L E N W K R L D V N p.320
| 12 . . . . . . g.51634
CAG | GCTGATATTGCACCATTGATGACTTCCCTTATTGGAGTTCCCTTTCCTCTTAACTCA c.1020
Q | A D I A P L M T S L I G V P F P L N S p.340
| 13 . . . . . . g.53038
GTG | GGAATCCTTCCTGTGGATTATCTTAACAACACTGATCTCTTCAAAGCAGAGAGCATG c.1080
V | G I L P V D Y L N N T D L F K A E S M p.360
. . . | 14 . . . g.53782
TTTACAAATGCAGTACAGATTCTTGAACAGTTCAAG | GTGAAAATGACTCAGAAGAAAGAA c.1140
F T N A V Q I L E Q F K | V K M T Q K K E p.380
. . . | 15 . . . g.77445
GTTACTTTACCATTTTTGTTTACACCATTTAA | ACTGCTTTCTGATTCCAAACAGTTCAAC c.1200
V T L P F L F T P F K | L L S D S K Q F N p.400
. . . . . | 16 . g.78749
ATTTTAAGAAAAGCAAGATCTTATATAAAACACAGAAAGTTTGATGAAGTG | GTCTCCCTT c.1260
I L R K A R S Y I K H R K F D E V | V S L p.420
. . . . . . g.78809
TGCAAGGAGCTAATTCATCTTGCATTGAAAGGATTGTCCTATTATCACACATATGACAGA c.1320
C K E L I H L A L K G L S Y Y H T Y D R p.440
. . . . . . g.78869
TTCTTTTTGGGCGTCAATGTTGTTATTGGTTTTGTGGGATGGATATCTTATGCCTCTTTG c.1380
F F L G V N V V I G F V G W I S Y A S L p.460
. . . . . | 17 . g.82089
TTGATCATCAAGTCTCATTCCAACCTTATAAAAGGTGTTAGTAAAGAAGTGAAG | AAACCA c.1440
L I I K S H S N L I K G V S K E V K | K P p.480
. . . . . . g.82149
AGCCATCTCCTGCCTTGTAGTTTTGTAGCTATTGGCATTTTAGTAGCATTTTTTCTGCTG c.1500
S H L L P C S F V A I G I L V A F F L L p.500
. . . . . . g.82209
ATTCAAGCCTGTCCCTGGACATATTATGTATATGGTTTGTTGCCACTGCCAATATGGTAT c.1560
I Q A C P W T Y Y V Y G L L P L P I W Y p.520
. | 18 . . . . . g.85017
GCGGTTCTAAGAGA | ATTTCAAGTTATTCAGGACCTTGTTGTATCAGTGTTGACCTATCCT c.1620
A V L R E | F Q V I Q D L V V S V L T Y P p.540
. . . . . | 19 . g.85181
CTGAGCCATTTTGTTGGGTACCTGTTAGCCTTTACCCTGGGAATTGAAGTATTA | GTTCTC c.1680
L S H F V G Y L L A F T L G I E V L | V L p.560
. . . . . . g.85241
AGTTTTTTCTACCGCTATATGCTTACCGCTGGACTTACTGCCTTTGCAGCTTGGCCATTT c.1740
S F F Y R Y M L T A G L T A F A A W P F p.580
. . | 20. . . . g.86455
CTCACTCGGCTGTGGACTCGAGCAAAG | ATGACCTCACTGAGTTGGACTTTCTTCTCTTTG c.1800
L T R L W T R A K | M T S L S W T F F S L p.600
. . . . . | 21 g.89155
CTCCTGGCAGTGTTCCCACTGATGCCGGTTGTAGGTCGAAAGCCAGACATCTCTCTAGT | G c.1860
L L A V F P L M P V V G R K P D I S L V | p.620
. . . . . . g.89215
ATGGGTGCAGGCTTGCTGGTTCTTCTGTTATCCCTGTGTGTTGTAACATCTCTCATGAAA c.1920
M G A G L L V L L L S L C V V T S L M K p.640
. . . . | 22 . g.90885
AGAAAAGATAGCTTTATAAAGGAAGAGCTATTGGTACATCTGTTACAG | GTGCTGAGCACA c.1980
R K D S F I K E E L L V H L L Q | V L S T p.660
. . . . . . g.90945
GTGCTCTCCATGTATGTTGTGTATAGCACTCAGAGTAGTCTACTCAGGAAGCAAGGACTG c.2040
V L S M Y V V Y S T Q S S L L R K Q G L p.680
. . . | 23. . . g.96129
CCTCTCATGAATCAAATTATTAGCTGGGCAACATTAG | CCTCTTCCTTGGTTGTGCCACTA c.2100
P L M N Q I I S W A T L A | S S L V V P L p.700
. . . . . . g.96189
CTGAGTTCTCCAGTTCTCTTTCAGCGATTGTTCAGCATACTTCTTTCATTGATGTCAACC c.2160
L S S P V L F Q R L F S I L L S L M S T p.720
. . | 24 . . . . g.101518
TACCTACTTCTAAGCACAGG | GTATGAAGCTCTCTTTCCACTAGTGTTGTCTTGTTTGATG c.2220
Y L L L S T G | Y E A L F P L V L S C L M p.740
. . . . . . g.101578
TTTGTCTGGATAAACATAGAACAAGAAACTCTACAACAATCTGGTGTTTGCTGTAAACAA c.2280
F V W I N I E Q E T L Q Q S G V C C K Q p.760
| 25 . . . . . . g.103271
AAG | CTCACCAGTATCCAGTTCTCTTATAATACTGATATAACTCAGTTTCGACAGCTATAT c.2340
K | L T S I Q F S Y N T D I T Q F R Q L Y p.780
. . . | 26 . . . g.106822
CTGGATGACATCCGTAGGGCCTTTTTCCTT | GTTTTCTTCTTAGTGACAGCATTTTTTGGA c.2400
L D D I R R A F F L | V F F L V T A F F G p.800
. . | 27 . . . . g.107484
ACTGGAAATATAGCTTCTATTAACAG | CTTTGATCTTGCCTCTGTCTATTGCTTTCTGACT c.2460
T G N I A S I N S | F D L A S V Y C F L T p.820
. . . . | 28 . . g.109328
GTGTTCAGTCCTTTTATGATGGGAGCCCTGATGATGTGGAAG | ATTTTAATCCCCTTTGTT c.2520
V F S P F M M G A L M M W K | I L I P F V p.840
. . . . . | 29 . g.117239
CTTGTTATGTGTGCTTTTGAAGCAGTTCAGTTGACTACTCAGTTATCGTCAAAAAG | CCTT c.2580
L V M C A F E A V Q L T T Q L S S K S | L p.860
. . . | 30 . . g.119352
TTTCTCATTGTTCTCGTCATATCAGACATTATGGCTTTG | CATTTTTTCTTCTTGGTCAAG c.2640
F L I V L V I S D I M A L | H F F F L V K p.880
. . . | 31 . . . g.146105
GATTATGGCAGCTGGCTTGATATTGGGACAAG | CATCAGCCACTATGTGATTGTCATGTCC c.2700
D Y G S W L D I G T S | I S H Y V I V M S p.900
. . . . . . g.146165
ATGACCATCTTTTTGGTGTTCCTCAATGGCCTGGCCCAGCTGCTCACAACGAAGAAACTC c.2760
M T I F L V F L N G L A Q L L T T K K L p.920
. . . g.146201
AGACTATGTGGCAAACCCAAAAGTCACTTCATGTGA c.2796
R L C G K P K S H F M X p.931
. . . . . . g.146261
ggttgctgaagcaccattcagcatctggatcctgattctccttttaagctaaaatctcat c.*60
. . . . . . g.146321
caaggcttcaataagaagatggatatggatatatagtatattctactcctgtaaggaaaa c.*120
. . . . . . g.146381
tggtatttggaattccgaattgacaggttatctggaacaaaggagcttctttttttttct c.*180
. . . . . . g.146441
aggttttgcaggcatgaaatagtgattatatctgtggaaaagcataggaaggcattctcc c.*240
. . . . . . g.146501
tttttcatttttttcctttggctggcagctcttcccagtgatgttgagagcacctgcagc c.*300
. . . . . . g.146561
aatctggtccccagtcgcacaacttcccacatacccagaggagagcatatgcctgtgggg c.*360
. . . . . . g.146621
gcagtgctgatggcatccagagtcattgctgtggctgagctggaaggaaatcaccaggtg c.*420
. . . . . . g.146681
ccaccgtcaatatttatcagctttcagcactggttttgttagacagtcagggtgtattat c.*480
. . . . . . g.146741
ttcaagagcttcaataaaaaaagtgtttgcaggtatttgtcatatttctttagtatgcaa c.*540
. . . . . . g.146801
taatgctatcttatcctttttagtgctatttctcaggttttctcagtcaaccagctagat c.*600
. . . . . . g.146861
gcatgtgatgcatgtctatccttcactttttttttttcatttctggattttcctgggatt c.*660
. . . . . . g.146921
tctgacaacacaaaagtagaaagtgcttggtatttctgtcttatacataggaaaacattt c.*720
. . . . . . g.146981
aaaataaatagtttttaattgtaggctcaacatctgttaccccatagctttttcgtatat c.*780
. . . . . . g.147041
tgtttctttccctttgaatttctttttactgtcatctattattttaacaggagttaaaat c.*840
. . . . . . g.147101
aactcctgttaaactttctgacaatatcataagaattcatattaaaggtgttattctttc c.*900
. . . . . . g.147161
tggttgtgagattctagcacaaaggcctaaaatcatcaaattagatttccatttgtaaac c.*960
. . . . . . g.147221
aaattctaatgggcaaaatatcttgagagcagtttttatatggattatccataaaatgac c.*1020
. . . . . . g.147281
ctttacatatccctgcagagttggccttttgcccgtggtgtgctagtagctttggctgat c.*1080
. . . . . . g.147341
gctaagctttcctggtatgcgccctatttttaagaagtaattgcttttgaattaagttat c.*1140
. . . . . . g.147401
agcattactaattcatgttaatgactaggaaaccctctgtaatttacaagatttttcaaa c.*1200
. . . . . . g.147461
ttggtggggagtgaataaatacaatttaaaagtcagaaatcagtttggcaaagtgtactt c.*1260
. . . . . . g.147521
tcttaatttctatttatgatgaagtatagtcataatttatttgtaatactactttatggt c.*1320
. . . . . . g.147581
ataccagtgaaagaactgtagtataaaaaagaggtattaatgttttatgaaatctcatgc c.*1380
. . . . . . g.147641
atcagttcatagcataaaatctagctggacaactaagaagctatggtagcaaacagtgat c.*1440
. . . . . . g.147701
gttgatggaatgagaatcatgaactttcatattacctcaaaggatttttttatcagtttt c.*1500
. . . . . . g.147761
tttcacacatcagaaaaaactgactgtataaacacttatcactgacctttttctatgtgt c.*1560
. . . . . . g.147821
agttttgccttttatcttttcccaaatttttataaagagaaattaataaatattttatta c.*1620
. g.147833
caacattgtaaa c.*1632
(downstream sequence)
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