(used for variant description)
(last modified December 19, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_017837.3 in the PIGV gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028133.1, covering PIGV transcript NM_017837.3.
(upstream sequence)
g.5003
gcg c.-361
. . . . . . g.5063
tgggccccggatggaggagctgaggttcggtccccgccggggaggtcgggacgggcaggg c.-301
. . . . . . g.5123
gctgaggaccccgcgccagcttgggagccctggagttctggcgggagggaagctgtcaaa c.-241
. . . . . . g.5183
tggaagccggtagaaatgagacagacgcccggagaagcggggagccccgcccctccgcca c.-181
. . . . . . g.5243
tagcagcctcgggcgccgcctcttcctttccagcctcccgccctcgtctgcttccggccc c.-121
. . . . . . g.5303
tgtggcctggtggggctctgcaggctccctcgggagtggtccttgggccgtggcccctct c.-61
. | 02 . . . . . g.7853
ggg | aggcctgagggagctcaatcctggtagcaacacccctgaattcctggtggtgaaagg c.-1
. . . . . . g.7913
ATGTGGCCCCAGGACCCATCCCGGAAGGAGGTGCTGAGGTTTGCAGTCAGCTGCCGTATC c.60
M W P Q D P S R K E V L R F A V S C R I p.20
. | 03 . . . . g.11192
CTGACTCTGATGCTGCAG | GCCCTCTTCAATGCCATCATCCCAGATCACCATGCAGAAGCC c.120
L T L M L Q | A L F N A I I P D H H A E A p.40
. . . . . . g.11252
TTCTCTCCTCCTCGCCTGGCCCCCTCAGGCTTTGTGGACCAACTCGTGGAAGGTCTTCTG c.180
F S P P R L A P S G F V D Q L V E G L L p.60
. . . . . . g.11312
GGCGGCCTGTCTCACTGGGATGCTGAACACTTCTTGTTCATTGCTGAGCATGGCTACCTG c.240
G G L S H W D A E H F L F I A E H G Y L p.80
. . . . . . g.11372
TATGAGCACAACTTTGCCTTCTTTCCTGGTTTCCCCTTGGCCCTGCTGGTGGGGACTGAA c.300
Y E H N F A F F P G F P L A L L V G T E p.100
. . . . . . g.11432
CTGTTGAGACCCTTACGGGGGTTACTGAGTCTACGCAGTTGCCTGCTGATTTCGGTAGCA c.360
L L R P L R G L L S L R S C L L I S V A p.120
. . . . . . g.11492
TCACTCAATTTCTTGTTCTTCATGTTGGCTGCAGTTGCACTTCATGACCTGGGTTGTCTG c.420
S L N F L F F M L A A V A L H D L G C L p.140
. . . . . . g.11552
GTTTTGCACTGTCCCCACCAGTCCTTTTATGCAGCTCTGCTTTTCTGTCTCAGCCCTGCC c.480
V L H C P H Q S F Y A A L L F C L S P A p.160
. . . . . . g.11612
AATGTCTTCCTGGCAGCTGGTTACTCAGAAGCTTTGTTTGCCCTCCTGACATTCAGTGCC c.540
N V F L A A G Y S E A L F A L L T F S A p.180
. . . . . . g.11672
ATGGGGCAGCTGGAGAGGGGCCGAGTCTGGACTAGTGTACTCCTCTTTGCCTTTGCCACT c.600
M G Q L E R G R V W T S V L L F A F A T p.200
. . . . . . g.11732
GGGGTACGCTCCAACGGGCTGGTCAGTGTTGGCTTCCTCATGCATTCTCAATGCCAAGGC c.660
G V R S N G L V S V G F L M H S Q C Q G p.220
. . . . . . g.11792
TTTTTCTCTTCTCTAACGATGCTGAATCCTCTGAGACAGCTCTTTAAGCTGATGGCCTCT c.720
F F S S L T M L N P L R Q L F K L M A S p.240
. . . . . . g.11852
CTGTTTCTGTCGGTGTTCACACTTGGCCTTCCCTTTGCCCTCTTTCAGTATTATGCCTAC c.780
L F L S V F T L G L P F A L F Q Y Y A Y p.260
. . . . . . g.11912
ACCCAATTCTGTCTGCCAGGCTCAGCCCGCCCCATTCCTGAGCCTTTGGTACAGTTAGCT c.840
T Q F C L P G S A R P I P E P L V Q L A p.280
. . . . . . g.11972
GTAGACAAGGGCTACCGGATTGCAGAGGGAAATGAACCGCCTTGGTGCTTCTGGGATGTT c.900
V D K G Y R I A E G N E P P W C F W D V p.300
. . . . . . g.12032
CCACTAATATACAGCTATATCCAGGATGTCTACTGGAATGTTGGCTTTTTGAAATACTAT c.960
P L I Y S Y I Q D V Y W N V G F L K Y Y p.320
. . . . . . g.12092
GAGCTCAAGCAGGTGCCCAATTTTCTACTGGCTGCACCAGTGGCTATACTGGTTGCCTGG c.1020
E L K Q V P N F L L A A P V A I L V A W p.340
. . . . . . g.12152
GCAACTTGGACATACGTGACCACTCACCCTTGGCTCTGCCTTACACTTGGGCTGCAAAGG c.1080
A T W T Y V T T H P W L C L T L G L Q R p.360
. . . . . . g.12212
AGCAAGAACAATAAGACCCTAGAGAAGCCCGATCTTGGATTCCTCAGTCCTCAGGTGTTT c.1140
S K N N K T L E K P D L G F L S P Q V F p.380
. . . . . . g.12272
GTGTACGTGGTCCACGCTGCAGTGCTGCTGCTGTTTGGAGGTCTGTGCATGCATGTTCAG c.1200
V Y V V H A A V L L L F G G L C M H V Q p.400
| 04 . . . . . . g.14660
| GTTCTCACCAGGTTTTTGGGCTCCTCCACTCCTATTATGTACTGGTTTCCAGCTCACTTG c.1260
| V L T R F L G S S T P I M Y W F P A H L p.420
. . . . . . g.14720
CTTCAGGATCAAGAGCCGCTGTTGAGATCCTTAAAGACTGTGCCTTGGAAGCCTCTTGCA c.1320
L Q D Q E P L L R S L K T V P W K P L A p.440
. . . . . . g.14780
GAGGACTCCCCACCAGGACAAAAGGTCCCCAGAAATCCTATCATGGGACTTTTGTATCAC c.1380
E D S P P G Q K V P R N P I M G L L Y H p.460
. . . . . . g.14840
TGGAAAACCTGTTCTCCAGTCACACGATACATTCTAGGCTACTTCCTGACTTACTGGCTC c.1440
W K T C S P V T R Y I L G Y F L T Y W L p.480
. . . . g.14882
CTGGGACTACTCCTACATTGCAACTTCCTGCCTTGGACATGA c.1482
L G L L L H C N F L P W T X p.493
. . . . . . g.14942
cctggactctccagggacaggttggaagccaacttaacccaggggtctgaaagtaaaaat c.*60
. . . . . . g.15002
acacattggaactgcctctgctgccctgggatcattactgtgtccattataatctttctc c.*120
. . . . . . g.15062
tttctctttgaaagctggtcaggaatgggagaagtgtcagacactagagagccccttctg c.*180
. . . . . . g.15122
gtcctggctagggcaaattttagacaactattttctctgtaagtgaagattgtcgtattc c.*240
. . . . . . g.15182
caagtctaaaatacacctggatctgtctagtcaatcaacatagcagagacagtcttaaac c.*300
. . . . . . g.15242
ctaccattgacctgtgtgtaaatttaaatgtcaatttattgaagtgtaaatttcatcaaa c.*360
. . . . . . g.15302
ggcattagctgacaggctggtaacagtccacacaagatggtataggcctgaacagtgtag c.*420
. . . . . . g.15362
tggcagtaataaagtgggaccattttttccaaatgcgacattgtttctgatgtttttttt c.*480
. . . . . . g.15422
tatgatttgtgcatgtatttttatatgaaaaaaacttacaaagatatgcaaattaaactt c.*540
. g.15441
ctttcagttatacatgcaa c.*559
(downstream sequence)
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