(used for variant description)
(last modified March 9, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_153681.2 in the PIGP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000021.8, covering PIGP transcript NM_153681.2.
(upstream sequence)
. . . g.5391
ggaggccacgcttgcagagctggagcgcgcgtctat c.-181
. . . . . . g.5451
cgccccagaacccccctccctgccctatcctccgccaccccttctgttgcggggcgcgcg c.-121
. . . . . . g.5511
ccagcctgggtgtctgtatgcgctcgaggcgggggcgcgggttgcggacggaggcgcggg c.-61
. . . . . . g.5571
aggcggttctgcgcggcgggggccgtacccgcggcggagcgaggaggcgagaatggatca c.-1
. . . . . . g.5631
ATGGTGCCACGGAGCACATCGCTGGCGCTGATTGTGTTCCTTTTCCACAGATTGTCTAAA c.60
M V P R S T S L A L I V F L F H R L S K p.20
. . . . . . g.5691
GCCCCAGGAAAAATGGTGGAAAATTCACCGTCGCCATTGCCAGAAAGAGCGATTTATGGC c.120
A P G K M V E N S P S P L P E R A I Y G p.40
. . . | 02 . . . g.8560
TTTGTTCTTTTCTTAAGCTCCCAATTTGGCTTCA | TACTTTACCTCGTGTGGGCCTTTATT c.180
F V L F L S S Q F G F I | L Y L V W A F I p.60
. . . . | 03. . g.10791
CCTGAATCTTGGCTAAACTCTTTAGGTTTAACCTATTGGCCTCAAAA | ATATTGGGCAGTT c.240
P E S W L N S L G L T Y W P Q K | Y W A V p.80
. . . . . . g.10851
GCATTACCTGTCTACCTCCTTATTGCTATAGTAATTGGCTACGTGCTCTTGTTTGGGATT c.300
A L P V Y L L I A I V I G Y V L L F G I p.100
. . . . | 04 . . g.12460
AACATGATGAGTACCTCTCCACTCGACTCCATCCATACAATCACAG | ATAACTATGCAAAA c.360
N M M S T S P L D S I H T I T D | N Y A K p.120
. . . . . . g.12520
AATCAACAGCAGAAGAAATACCAAGAGGAGGCCATTCCAGCCTTAAGAGATATTTCTATT c.420
N Q Q Q K K Y Q E E A I P A L R D I S I p.140
. . . . . g.12577
AGTGAAGTAAACCAAATGTTCTTTCTTGCAGCCAAAGAACTTTACACCAAAAACTGA c.477
S E V N Q M F F L A A K E L Y T K N X p.158
. . . . . . g.12637
actgtgtgtaaccatagtaacaccaagcacgtatttatttataagtttttgccattataa c.*60
. . . . . . g.12697
ttttgaccataaattaatttgaccatctctcttattaatagagaagtaaaaaatgtaagt c.*120
. . . . . . g.12757
tgaccttctcttagattatgttcaatgaatattgtaaatgttcaagtattgttaatgaat c.*180
. . . g.12795
agaataaatacaatattgcattcccatatagcagactt c.*218
(downstream sequence)
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