(used for variant description)
(last modified June 12, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_000407.4 in the GP1BB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007974.1, covering GP1BB transcript NM_000407.4.
(upstream sequence)
. . g.5027
agtaagccgggctgccgtcttctcgcc c.-1
. | 02 . . . . . g.5361
ATGGGCTCCG | GGCCGCGCGGGGCGCTGAGCTTACTGCTCCTGCTGCTGGCCCCGCCGAGC c.60
M G S G | P R G A L S L L L L L L A P P S p.20
. . . . . . g.5421
CGCCCGGCCGCAGGTTGCCCGGCGCCCTGTAGCTGCGCGGGGACGCTCGTGGACTGCGGG c.120
R P A A G C P A P C S C A G T L V D C G p.40
. . . . . . g.5481
CGCCGCGGGCTGACTTGGGCCTCGCTGCCGACCGCCTTCCCTGTCGACACAACCGAGCTG c.180
R R G L T W A S L P T A F P V D T T E L p.60
. . . . . . g.5541
GTGCTGACCGGCAACAACCTGACGGCGCTGCCGCCGGGGCTGCTGGACGCGCTGCCCGCG c.240
V L T G N N L T A L P P G L L D A L P A p.80
. . . . . . g.5601
CTGCGCACCGCACACCTGGGCGCCAACCCCTGGCGCTGCGACTGCCGCCTTGTGCCGCTG c.300
L R T A H L G A N P W R C D C R L V P L p.100
. . . . . . g.5661
CGCGCCTGGCTGGCCGGCCGCCCCGAGCGTGCGCCCTACCGCGACCTGCGTTGCGTGGCG c.360
R A W L A G R P E R A P Y R D L R C V A p.120
. . . . . . g.5721
CCCCCAGCGCTGCGCGGCCGCCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCT c.420
P P A L R G R L L P Y L A E D E L R A A p.140
. . . . . . g.5781
TGCGCTCCCGGCCCGCTCTGCTGGGGGGCGCTGGCGGCGCAGCTTGCGCTGCTGGGCCTT c.480
C A P G P L C W G A L A A Q L A L L G L p.160
. . . . . . g.5841
GGGCTGCTGCACGCGTTGCTGCTGGTGCTGCTGCTGTGCCGCCTGCGGAGGCTGCGGGCC c.540
G L L H A L L L V L L L C R L R R L R A p.180
. . . . . . g.5901
CGGGCCCGCGCTCGCGCCGCAGCCCGGCTGTCGCTGACCGACCCGCTGGTGGCCGAGCGA c.600
R A R A R A A A R L S L T D P L V A E R p.200
. . g.5922
GCCGGAACCGACGAGTCCTGA c.621
A G T D E S X p.206
. . . . . . g.5982
ggagagaaccggtgcgtcctgaggagagaaccggcgctgggcaacacgggcctgcaaact c.*60
. . . . . . g.6042
cgacaggaccctgcccgaggggccctcgcgccaacctggaccggtccccgcctcctccgc c.*120
. . . . . . g.6102
tgcccaatctctcagacccaccccacctgcaggcccagaccacgtgggacagaactcctg c.*180
. . . . . . g.6162
cccaccctaccccgagggaggcgaacccgcacttccaggcttgggaggaccatggggcac c.*240
. . . . . . g.6222
aatgcggtccagaccctgctgcgtctcccttccaaactctggtgctgaataaacccttct c.*300
. g.6232
gatctggtct c.*310
(downstream sequence)
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