(used for variant description)
(last modified June 21, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_000173.5 in the GP1BA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008767.2, covering GP1BA transcript NM_000173.5.
(upstream sequence)
. g.5015
gagagaaggacggag c.-61
. . . . . . | 02 g.5308
tcgagtggcaccctagaagacgctctgtgccttcggaggtctttctgcctgcct | gtcctc c.-1
. . . . . . g.5368
ATGCCTCTCCTCCTCTTGCTGCTCCTGCTGCCAAGCCCCTTACACCCCCACCCCATCTGT c.60
M P L L L L L L L L P S P L H P H P I C p.20
. . . . . . g.5428
GAGGTCTCCAAAGTGGCCAGCCACCTAGAAGTGAACTGTGACAAGAGGAATCTGACAGCG c.120
E V S K V A S H L E V N C D K R N L T A p.40
. . . . . . g.5488
CTGCCTCCAGACCTGCCGAAAGACACAACCATCCTCCACCTGAGTGAGAACCTCCTGTAC c.180
L P P D L P K D T T I L H L S E N L L Y p.60
. . . . . . g.5548
ACCTTCTCCCTGGCAACCCTGATGCCTTACACTCGCCTCACTCAGCTGAACCTAGATAGG c.240
T F S L A T L M P Y T R L T Q L N L D R p.80
. . . . . . g.5608
TGCGAGCTCACCAAGCTCCAGGTCGATGGGACGCTGCCAGTGCTGGGGACCCTGGATCTA c.300
C E L T K L Q V D G T L P V L G T L D L p.100
. . . . . . g.5668
TCCCACAATCAGCTGCAAAGCCTGCCCTTGCTAGGGCAGACACTGCCTGCTCTCACCGTC c.360
S H N Q L Q S L P L L G Q T L P A L T V p.120
. . . . . . g.5728
CTGGACGTCTCCTTCAACCGGCTGACCTCGCTGCCTCTTGGTGCCCTGCGTGGTCTTGGC c.420
L D V S F N R L T S L P L G A L R G L G p.140
. . . . . . g.5788
GAACTCCAAGAGCTCTACCTGAAAGGCAATGAGCTGAAGACCCTGCCCCCAGGGCTCCTG c.480
E L Q E L Y L K G N E L K T L P P G L L p.160
. . . . . . g.5848
ACGCCCACACCCAAGCTGGAGAAGCTCAGTCTGGCTAACAACAACTTGACTGAGCTCCCC c.540
T P T P K L E K L S L A N N N L T E L P p.180
. . . . . . g.5908
GCTGGGCTCCTGAATGGGCTGGAGAATCTCGACACCCTTCTCCTCCAAGAGAACTCGCTG c.600
A G L L N G L E N L D T L L L Q E N S L p.200
. . . . . . g.5968
TATACAATACCAAAGGGCTTTTTTGGGTCCCACCTCCTGCCTTTTGCTTTTCTCCACGGG c.660
Y T I P K G F F G S H L L P F A F L H G p.220
. . . . . . g.6028
AACCCCTGGTTATGCAACTGTGAGATCCTCTATTTTCGTCGCTGGCTGCAGGACAATGCT c.720
N P W L C N C E I L Y F R R W L Q D N A p.240
. . . . . . g.6088
GAAAATGTCTACGTATGGAAGCAAGGTGTGGACGTCAAGGCCATGACCTCTAACGTGGCC c.780
E N V Y V W K Q G V D V K A M T S N V A p.260
. . . . . . g.6148
AGTGTGCAGTGTGACAATTCAGACAAGTTTCCCGTCTACAAATACCCAGGAAAGGGGTGC c.840
S V Q C D N S D K F P V Y K Y P G K G C p.280
. . . . . . g.6208
CCCACCCTTGGTGATGAAGGTGACACAGACCTATATGATTACTACCCAGAAGAGGACACT c.900
P T L G D E G D T D L Y D Y Y P E E D T p.300
. . . . . . g.6268
GAGGGCGATAAGGTGCGTGCCACAAGGACTGTGGTCAAGTTCCCCACCAAAGCCCATACA c.960
E G D K V R A T R T V V K F P T K A H T p.320
. . . . . . g.6328
ACCCCCTGGGGTCTATTCTACTCATGGTCCACTGCTTCTCTAGACAGCCAAATGCCCTCC c.1020
T P W G L F Y S W S T A S L D S Q M P S p.340
. . . . . . g.6388
TCCTTGCATCCAACACAAGAATCCACTAAGGAGCAGACCACATTCCCACCTAGATGGACC c.1080
S L H P T Q E S T K E Q T T F P P R W T p.360
. . . . . . g.6448
CCAAATTTCACACTTCACATGGAATCCATCACATTCTCCAAAACTCCAAAATCCACTACT c.1140
P N F T L H M E S I T F S K T P K S T T p.380
. . . . . . g.6508
GAACCAACCCCAAGCCCGACCACCTCAGAGCCCGTCCCGGAGCCCGCCCCAAACATGACC c.1200
E P T P S P T T S E P V P E P A P N M T p.400
. . . . . . g.6568
ACCCTGGAGCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGC c.1260
T L E P T P S P T T P E P T S E P A P S p.420
. . . . . . g.6628
CCGACCACCCCGGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCCACC c.1320
P T T P E P T S E P A P S P T T P E P T p.440
. . . . . . g.6688
TCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACCCCAATCCCGACCATCGCCACA c.1380
S E P A P S P T T P E P T P I P T I A T p.460
. . . . . . g.6748
AGCCCGACCATCCTGGTGTCTGCCACAAGCCTGATCACTCCAAAAAGCACATTTTTAACT c.1440
S P T I L V S A T S L I T P K S T F L T p.480
. . . . . . g.6808
ACCACAAAACCCGTATCACTCTTAGAATCCACCAAAAAAACCATCCCTGAACTTGATCAG c.1500
T T K P V S L L E S T K K T I P E L D Q p.500
. . . . . . g.6868
CCACCAAAGCTCCGTGGGGTGCTCCAAGGGCATTTGGAGAGCTCCAGAAATGACCCTTTT c.1560
P P K L R G V L Q G H L E S S R N D P F p.520
. . . . . . g.6928
CTCCACCCCGACTTTTGCTGCCTCCTCCCCCTGGGCTTCTATGTCTTGGGTCTCTTCTGG c.1620
L H P D F C C L L P L G F Y V L G L F W p.540
. . . . . . g.6988
CTGCTCTTTGCCTCTGTGGTCCTCATCCTGCTGCTGAGCTGGGTTGGGCATGTGAAACCA c.1680
L L F A S V V L I L L L S W V G H V K P p.560
. . . . . . g.7048
CAGGCCCTGGACTCTGGCCAAGGTGCTGCTCTGACCACAGCCACACAAACCACACACCTG c.1740
Q A L D S G Q G A A L T T A T Q T T H L p.580
. . . . . . g.7108
GAGCTGCAGAGGGGACGGCAAGTGACAGTGCCCCGGGCCTGGCTGCTCTTCCTTCGAGGT c.1800
E L Q R G R Q V T V P R A W L L F L R G p.600
. . . . . . g.7168
TCGCTTCCCACTTTCCGCTCCAGCCTCTTCCTGTGGGTACGGCCTAATGGCCGTGTGGGG c.1860
S L P T F R S S L F L W V R P N G R V G p.620
. . . . . . g.7228
CCTCTAGTGGCAGGAAGGAGGCCCTCAGCTCTGAGTCAGGGTCGTGGTCAGGACCTGCTG c.1920
P L V A G R R P S A L S Q G R G Q D L L p.640
. . . g.7267
AGCACAGTGAGCATTAGGTACTCTGGCCACAGCCTCTGA c.1959
S T V S I R Y S G H S L X p.652
. . . . . . g.7327
gggtgggaggtttggggaccttgagagaagagcctgtgggctctcctattggaatctagt c.*60
. . . . . . g.7387
tgggggttggaggggtaaggaacacagggtgatagggaggggtcttagttcctttttctg c.*120
. . . . . . g.7447
tatcagaagccctgtcttcacaacacaggcacacaatttcagtcccagccaaagcagaag c.*180
. . . . . . g.7507
gggtaatgacatggacttggcggggggacaagacaaagctcccgatgctgcatggggcgc c.*240
. . . . . . g.7567
tgccagatctcacggtgaaccattttggcagaatacagcatggttcccacatgcatctat c.*300
. . . . . . g.7627
gcacagaagaaaatctggaaagtgatttatcaggatgtgagcactcgttgtgtctggatg c.*360
. . . . . . g.7687
ttacaaatatgggtggttttattttctttttccctgtttagcattttctagttttccact c.*420
. . . . g.7734
attattgtatattatctgtataataaaaaataattttagggttggga c.*467
(downstream sequence)
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