(used for variant description)
(last modified February 28, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000326.4 in the RLBP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008116.1, covering RLBP1 transcript NM_000326.4.
(upstream sequence)
. . g.5020
gagcccgatttaacggaaac c.-361
. . . . . . g.5080
tgtgggcggtgagaagttccttatgacacactaatcccaacctgctgaccggaccacgcc c.-301
. . . . . . g.5140
tccagcggagggaacctctagagctccaggacattcaggtaccaggtagccccaaggagg c.-241
. . | 02 . . . . g.6875
agctgccgacctggcag | ggaacaaccaagactggggttaaatctcacagcctgcaagtgg c.-181
. . . . . . g.6935
aagagaagaacttgaacccaggtccaacttttgcgccacagcaggctgcctcttggtcct c.-121
. . | 03 . . . g.7656
gacaggaagtcacaacttgg | ccctgacttcctatcctagggaaggggccggctggagagg c.-61
. . . . . . g.7716
ccaggacagagaaagcagatcccttctttttccaaggactctgtgtcttccataggcaac c.-1
. | 04 . . . . . g.8046
ATGTCAGAAGGG | GTGGGCACGTTCCGCATGGTACCTGAAGAGGAACAGGAGCTCCGTGCC c.60
M S E G | V G T F R M V P E E E Q E L R A p.20
. . . . . . g.8106
CAACTGGAGCAGCTCACAACCAAGGACCATGGACCTGTCTTTGGCCCGTGCAGCCAGCTG c.120
Q L E Q L T T K D H G P V F G P C S Q L p.40
. . | 05 . . . . g.9406
CCCCGCCACACCTTGCAGAAG | GCCAAGGATGAGCTGAACGAGAGAGAGGAGACCCGGGAG c.180
P R H T L Q K | A K D E L N E R E E T R E p.60
. . . . . . g.9466
GAGGCAGTGCGAGAGCTGCAGGAGATGGTGCAGGCGCAGGCGGCCTCGGGGGAGGAGCTG c.240
E A V R E L Q E M V Q A Q A A S G E E L p.80
. . . . . . g.9526
GCGGTGGCCGTGGCGGAGAGGGTGCAAGAGAAGGACAGCGGCTTCTTCCTGCGCTTCATC c.300
A V A V A E R V Q E K D S G F F L R F I p.100
. . . . | 06 . . g.11467
CGCGCACGGAAGTTCAACGTGGGCCGTGCCTATGAGCTGCTCAGAG | GCTATGTGAATTTC c.360
R A R K F N V G R A Y E L L R G | Y V N F p.120
. . . . . . g.11527
CGGCTGCAGTACCCTGAGCTCTTTGACAGCCTGTCCCCAGAGGCTGTCCGCTGCACCATT c.420
R L Q Y P E L F D S L S P E A V R C T I p.140
. . . . . . g.11587
GAAGCTGGCTACCCTGGTGTCCTCTCTAGTCGGGACAAGTATGGCCGAGTGGTCATGCTC c.480
E A G Y P G V L S S R D K Y G R V V M L p.160
. . . . | 07 . . g.14805
TTCAACATTGAGAACTGGCAAAGTCAAGAAATCACCTTTGATGAG | ATCTTGCAGGCATAT c.540
F N I E N W Q S Q E I T F D E | I L Q A Y p.180
. . . . . . g.14865
TGCTTCATCCTGGAGAAGCTGCTGGAGAATGAGGAAACTCAAATCAATGGCTTCTGCATC c.600
C F I L E K L L E N E E T Q I N G F C I p.200
. . . . . . g.14925
ATTGAGAACTTCAAGGGCTTTACCATGCAGCAGGCTGCTAGTCTCCGGACTTCAGATCTC c.660
I E N F K G F T M Q Q A A S L R T S D L p.220
. . | 08 . . . . g.15918
AGGAAGATGGTGGACATGCTCCAG | GATTCCTTCCCAGCCCGGTTCAAAGCCATCCACTTC c.720
R K M V D M L Q | D S F P A R F K A I H F p.240
. . . . . . g.15978
ATCCACCAGCCATGGTACTTCACCACGACCTACAATGTGGTCAAGCCCTTCTTGAAGAGC c.780
I H Q P W Y F T T T Y N V V K P F L K S p.260
. | 09 . . . . . g.16293
AAGCTGCTTGAGAGG | GTCTTTGTCCACGGGGATGACCTTTCTGGTTTCTACCAGGAGATC c.840
K L L E R | V F V H G D D L S G F Y Q E I p.280
. . . . . . g.16353
GATGAGAACATCCTGCCCTCTGACTTCGGGGGCACGCTGCCCAAGTATGATGGCAAGGCC c.900
D E N I L P S D F G G T L P K Y D G K A p.300
. . . . . g.16407
GTTGCTGAGCAGCTCTTTGGCCCCCAGGCCCAAGCTGAGAACACAGCCTTCTGA c.954
V A E Q L F G P Q A Q A E N T A F X p.317
. . . . . . g.16467
aaacatctcctgccagctgaactgtagttagaatctctgggcctctcctcaactgtcctg c.*60
. . . . . . g.16527
gacccaaggctaggaaagggctgcttgagatgactgtggtccccccttagactccctaag c.*120
. . . . . . g.16587
cccgagtgagctcaggtgtcaccctgttctcaagttgggggatgggtaataaaggagggg c.*180
. . . . . . g.16647
gaattcccttgaacaagaagaactggggatagttatatttccacctgcccttgaagcttt c.*240
. . . . . . g.16707
aagacagtgatttttgtgtaaggttgtatttcaaagactcgaattcattttctcagtcat c.*300
. . . . . . g.16767
ttcctttgtaacagagttttacgacttagagtctgtgaaaacaggcaaggagcccgggtt c.*360
. . . . . g.16825
aaaatatccccctattcgcccccaaaatgcaataaaagaagataaaagagagaggata c.*418
(downstream sequence)
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