(used for variant description)
(last modified August 25, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_144563.2 in the RPIA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016710.1, covering RPIA transcript NM_144563.2.
(upstream sequence)
. . . . g.5041
cgggggcgggacttcagcggaggccggagcgaggcgtcggg c.-1
. . . . . . g.5101
ATGCAGCGCCCCGGGCCCTTCAGCACCCTCTACGGGCGGGTCTTGGCCCCGCTGCCCGGG c.60
M Q R P G P F S T L Y G R V L A P L P G p.20
. . . . . . g.5161
AGGGCCGGGGGCGCGGCCTCCGGCGGAGGAGGGAACAGCTGGGACCTCCCGGGTTCCCAC c.120
R A G G A A S G G G G N S W D L P G S H p.40
. . . . . . g.5221
GTGCGGCTGCCGGGGCGTGCACAGTCTGGGACCCGTGGCGGTGCTGGCAACACAAGCACC c.180
V R L P G R A Q S G T R G G A G N T S T p.60
. . . . . . g.5281
AGCTGCGGGGACTCCAACAGCATCTGCCCGGCCCCCTCCACGATGTCCAAGGCCGAGGAG c.240
S C G D S N S I C P A P S T M S K A E E p.80
. . . . | 02 . . g.11841
GCCAAGAAGCTGGCGGGCCGCGCGGCTGTGGAGAACCACGTGAGG | AATAACCAAGTGCTG c.300
A K K L A G R A A V E N H V R | N N Q V L p.100
. . . . | 03 . . g.13365
GGAATTGGAAGTGGTTCTACAATTGTCCATGCTGTGCAGCGAATAG | CTGAAAGGGTGAAG c.360
G I G S G S T I V H A V Q R I A | E R V K p.120
. . . . | 04 . . g.42638
CAAGAGAATCTGAACCTCGTCTGTATTCCCACTTCCTTCCAG | GCCCGCCAGCTCATCCTG c.420
Q E N L N L V C I P T S F Q | A R Q L I L p.140
. . . . | 05 . . g.47911
CAGTATGGCTTGACCCTCAGTGATCTGGATCGACACCCAGAG | ATCGACCTTGCCATCGAT c.480
Q Y G L T L S D L D R H P E | I D L A I D p.160
. . . . | 06. . g.49023
GGTGCTGATGAAGTAGATGCTGATCTCAATCTCATCAAGGGTGGCGG | AGGCTGCCTGACC c.540
G A D E V D A D L N L I K G G G | G C L T p.180
. . . . . | 07 . g.49880
CAGGAGAAGATTGTGGCTGGCTATGCTAGTCGCTTCATCGTGATCGCTGATTTCAG | GAAA c.600
Q E K I V A G Y A S R F I V I A D F R | K p.200
. . . . . . g.49940
GATTCGAAGAATCTCGGGGATCAGTGGCACAAGGGAATCCCCATCGAGGTCATCCCAATG c.660
D S K N L G D Q W H K G I P I E V I P M p.220
. . . . . . g.50000
GCCTATGTCCCAGTGAGCCGAGCTGTGAGCCAGAAGTTTGGGGGCGTGGTTGAACTTCGA c.720
A Y V P V S R A V S Q K F G G V V E L R p.240
. | 08 . . . . g.51360
ATGGCTGTCAACAAGGCT | GGTCCTGTGGTGACAGATAATGGGAATTTTATCTTGGACTGG c.780
M A V N K A | G P V V T D N G N F I L D W p.260
. . . . . | 09 g.63324
AAGTTTGACCGGGTACACAAATGGAGTGAAGTGAATACAGCTATCAAAATGATCCCAG | GT c.840
K F D R V H K W S E V N T A I K M I P G | p.280
. . . . . . g.63384
GTGGTGGACACAGGCCTATTCATCAACATGGCTGAGAGAGTCTACTTTGGGATGCAGGAT c.900
V V D T G L F I N M A E R V Y F G M Q D p.300
. . . g.63420
GGCTCAGTGAACATGAGGGAGAAGCCTTTCTGTTGA c.936
G S V N M R E K P F C X p.311
. . . . . . g.63480
ccctgcaaggagcagagtgtgttcaccttgagtctccagcccacagccaaggtggacgta c.*60
. . . . . . g.63540
cctctccaggagcctttgccttaatgtatctctgcctggacaacttgtggtggggggtgg c.*120
. . . . . . g.63600
ggggaagagtgggagggggagttaaatccagtcttatgaagtattgttattaaatgtctt c.*180
. . . . . . g.63660
tttaaaaagagaaatataaacatatatttttactattaaaatattcagttttttaaatga c.*240
. . . . . . g.63720
agtagaacttgagttcatgttttatatgaaatatttaccaaaaaaaaaaaatgaggtaaa c.*300
. . . . . . g.63780
ctgtatttaaaacctttgacttgagtctgctggtaaagcttctgaatattgagtttgctg c.*360
. . . . . . g.63840
agaaataaaaatcaaaacttctttaagctggtaaagtgaggggcccaccagcagtgatct c.*420
. . . . . . g.63900
cctgatgccttactggaaactttgtttacttgtctgctaccctctgatttgtttttagtt c.*480
. . . . . . g.63960
agtttttattgtgagcacacatagtacctagttacatcttaagatcaggtttataaaact c.*540
. . . . . . g.64020
gtggagtggagcggtatggtatggaatgacttggaatgtaagctgtcagggagaaaatgt c.*600
. . . . . . g.64080
tgttacacttttgctaagatctgggggtttcttcatattcctgctgttggaagcagttga c.*660
. . . . . . g.64140
ccagaaatgcttgccagtactgccaaagcactgctgtgaaatgtgaagtactttgttttt c.*720
. . . . . . g.64200
ttatttttaatgattttctttttgttattaatatttttctctgttcctttgttattactt c.*780
. . . . . . g.64260
gcatggtttggcgtcagaagtccttacctctttatattgtttgcaggtttaaataaaaca c.*840
. g.64277
gtgtggtgccattttga c.*857
(downstream sequence)
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