(used for variant description)
(last modified June 26, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_032730.4 in the RTN4IP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_047205.1, covering RTN4IP1 transcript NM_032730.4.
(upstream sequence)
. . . . . g.5057
gcaaagccatcccggcggctaaggagagcgggcaggcaaggagattccgggccaggg c.-421
. . . . . . g.5117
tcgcggcggcagtcggcaagcgttcgattctctggcgttggatcgcgagcggtgtctgct c.-361
. . . . . . g.5177
tgtcccgccgagggctcccaggacagggcagggatctagggggtttgcgcacctgctttt c.-301
. . . . . . g.5237
taatgccccgcccccccttttttttttaaagtggagggggtgaaagtgagggaggagaat c.-241
. . . . . . g.5297
ggacagaatactgactggaacgttaattcgagcatttcatatgcgaagagcggaataaca c.-181
. . . . . . g.5357
gttccgtattcttctttcagtttctccattagattagcttcattttcgaatgctccgttt c.-121
. . . . . . g.5417
tgcatgcttaattttgaaactagcccgtggtttggcagaatttgactgaattcaggggtg c.-61
. . . . . . g.5477
agagtttgatccagtccaagtgtatttgaatttgagcacgcagttcaaccagtgtttaca c.-1
. . . . . . g.5537
ATGGAATTTCTGAAGACTTGTGTACTTAGAAGAAATGCATGCACTGCGGTTTGCTTCTGG c.60
M E F L K T C V L R R N A C T A V C F W p.20
. . . . . . g.5597
AGAAGCAAAGTTGTCCAAAAGCCTTCAGTTAGAAGGATTAGTACTACCTCTCCTAGGAGC c.120
R S K V V Q K P S V R R I S T T S P R S p.40
. . . . . . g.5657
ACTGTCATGCCTGCTTGGGTGATAGATAAATATGGGAAGAATGAAGTGCTTCGATTCACT c.180
T V M P A W V I D K Y G K N E V L R F T p.60
. . . . . . g.5717
CAGAACATGATGATGCCTATCATACACTATCCAAATGAAGTCATTGTCAAAGTTCACGCT c.240
Q N M M M P I I H Y P N E V I V K V H A p.80
. . . | 02 . . . g.11555
GCCAGTGTAAATCCTATAGACGTTAATATGAGAA | GTGGTTATGGAGCTACAGCTTTAAAT c.300
A S V N P I D V N M R S | G Y G A T A L N p.100
. . . . . . g.11615
ATGAAGCGTGATCCTTTACACGTGAAAATCAAAGGAGAAGAATTTCCTCTGACTCTGGGT c.360
M K R D P L H V K I K G E E F P L T L G p.120
. . . . . . g.11675
CGGGATGTCTCTGGCGTGGTGATGGAATGTGGGCTTGATGTGAAATACTTCAAGCCTGGA c.420
R D V S G V V M E C G L D V K Y F K P G p.140
| 03 . . . . . . g.13059
GATGAG | GTCTGGGCTGCAGTTCCTCCTTGGAAACAAGGCACTCTTTCAGAGTTTGTTGTA c.480
D E | V W A A V P P W K Q G T L S E F V V p.160
. | 04 . . . . . g.15217
GTCAGTGGGAATGAG | GTCTCTCACAAACCCAAATCACTCACTCATACTCAAGCTGCCTCT c.540
V S G N E | V S H K P K S L T H T Q A A S p.180
. . . . . . g.15277
TTGCCATATGTGGCTCTCACAGCCTGGTCTGCTATAAACAAAGTTGGTGGCCTGAATGAC c.600
L P Y V A L T A W S A I N K V G G L N D p.200
. . | 05 . . . . g.31616
AAGAATTGCACAGGAAAACG | TGTTCTAATCTTAGGCGCTTCAGGCGGAGTTGGTACTTTT c.660
K N C T G K R | V L I L G A S G G V G T F p.220
| 06 . . . . . g.42249
GCTATACAG | GTAATGAAAGCATGGGATGCTCATGTGACAGCAGTTTGCTCCCAAGATGCC c.720
A I Q | V M K A W D A H V T A V C S Q D A p.240
. . . . . . g.42309
AGTGAACTTGTAAGGAAGCTTGGTGCAGACGATGTAATTGATTACAAATCTGGAAGTGTG c.780
S E L V R K L G A D D V I D Y K S G S V p.260
. . | 07 . . . . g.46670
GAAGAGCAGTTGAAATCCTTAAAACC | ATTTGATTTTATCCTTGATAATGTTGGCGGATCC c.840
E E Q L K S L K P | F D F I L D N V G G S p.280
. . . . . . g.46730
ACTGAAACATGGGCTCCAGATTTTCTCAAGAAATGGTCAGGAGCCACCTATGTGACTTTG c.900
T E T W A P D F L K K W S G A T Y V T L p.300
. . . . . . g.46790
GTGACTCCTTTCCTCCTGAACATGGACCGATTGGGCATAGCAGATGGCATGTTGCAGACA c.960
V T P F L L N M D R L G I A D G M L Q T p.320
. . . | 08 . . . g.51108
GGAGTCACTGTAGGTTCAAAGGCATTAAAG | CATTTCTGGAAAGGAGTCCATTATCGCTGG c.1020
G V T V G S K A L K | H F W K G V H Y R W p.340
. . . . . . g.51168
GCATTTTTCATGGCCAGTGGCCCATGTTTAGATGACATTGCAGAACTGGTGGATGCGGGA c.1080
A F F M A S G P C L D D I A E L V D A G p.360
| 09 . . . . . . g.62452
AAG | ATCCGGCCAGTTATTGAACAAACCTTTCCTTTTTCTAAAGTTCCAGAAGCCTTCCTG c.1140
K | I R P V I E Q T F P F S K V P E A F L p.380
. . . . . g.62503
AAGGTGGAAAGAGGACACGCACGAGGAAAGACTGTAATTAATGTTGTTTAA c.1191
K V E R G H A R G K T V I N V V X p.396
. . . . . . g.62563
ataaaaatgcagtttagtgattgttgacgttcttatttggtgagtgcctgtgagcccaaa c.*60
. . . . . . g.62623
tttttttctagccatccctttcaaacatttttccagattagattatacattccatgatac c.*120
. . . . . . g.62683
aagctttaaaaaataaacacaccattttggccagtaattgatataaaaatatcagcactt c.*180
. . . . . . g.62743
ggatttgtctgtagtcagtagaaattcgaagttttttcaagctgttccttcacactggct c.*240
. . . . . . g.62803
ttgcaggttgttgtggcaccttctgttttactagcttaaactactttattgtcttttttg c.*300
. . . . . . g.62863
ttttagagacagggtctcgctgtgtcacccaggctggagtgcagtggcacaatcacagct c.*360
. . . . . . g.62923
cactgcagccttgaccttaagcgattctcctgcttcagcctctcaagtaggtaggactac c.*420
. . . . . . g.62983
aggtatgcatcaccacacccagctagtttttttgtatttttagtagagacagttttgcca c.*480
. . . . . . g.63043
tgttgcccaggctggtctcaaactcctgggcttaagtgatccaccatgtcagtctcccaa c.*540
. . . . . . g.63103
agttctgggattacaggcgtgaaccaccctgctgggcctgatcgtcttaatgtacaatac c.*600
. . . . . . g.63163
taaaactttcagtgtatagatggatgttggcatgaagagataatttaaagctggttcctt c.*660
. . . . . . g.63223
cttgaattcatcactgagcagctttctaactgccaaggtttccttttttgttcctccacc c.*720
. . . . . . g.63283
ataatgtggtcaccacagctcttaaagttctaaatctcttagtgtcatatataaaaatct c.*780
. . . . . . g.63343
gcctggtgattcatttgtttatgctcttaatattgaaaggtgagagcagagtttctaact c.*840
. . . . . . g.63403
ttttaaaacccttacatcttgcataaggattaggcctgtttcggcaattgaaacatgctt c.*900
. . . . . . g.63463
ctctgagggcttttccatggaaattgcagccttccaatggagcccaaagcttgccacttt c.*960
g.63471
gatgtcaa c.*968
(downstream sequence)
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