(used for variant description)
(last modified June 29, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001111035.1 in the ACP5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028127.1, covering ACP5 transcript NM_001111035.1.
(upstream sequence)
g.5003
cgc c.-301
. . . . . . g.5063
cggggctcacctgggtcagccctgagccctcgagcagggcggatcggccgctgcctgctt c.-241
. . . . . . g.5123
aaagctggggccgccaggagtgcgatcgcctgcggatctgcagctgggcaccggccgcaa c.-181
. . | 02 . . . g.5369
cgcccgccccgcgacggcag | ggactgaagggactcctgaatgtccgcgggacgtgtcgcg c.-121
. . . . | 03 . . g.6334
gcggcgcccagcacggaggaggcaggcagggag | ggaataaaggctcagggaccggcagtt c.-61
. . . . . . g.6394
ctactctagagcccaccagcctctcagagcctccggtgactggcctgtgtctccccctgg c.-1
| 04 . . . . . . g.6729
| ATGGACATGTGGACGGCGCTGCTCATCCTGCAAGCCTTGTTGCTACCCTCCCTGGCTGAT c.60
| M D M W T A L L I L Q A L L L P S L A D p.20
. . . . . . g.6789
GGTGCCACCCCTGCCCTGCGCTTTGTAGCCGTGGGTGACTGGGGAGGGGTCCCCAATGCC c.120
G A T P A L R F V A V G D W G G V P N A p.40
. . . . . . g.6849
CCATTCCACACGGCCCGGGAAATGGCCAATGCCAAGGAGATCGCTCGGACTGTGCAGATC c.180
P F H T A R E M A N A K E I A R T V Q I p.60
. . . . . . g.6909
CTGGGTGCAGACTTCATCCTGTCTCTAGGGGACAATTTTTACTTCACTGGTGTGCAAGAC c.240
L G A D F I L S L G D N F Y F T G V Q D p.80
. . | 05 . . . . g.7182
ATCAATGACAAGAGGTTCCAG | GAGACCTTTGAGGACGTATTCTCTGACCGCTCCCTTCGC c.300
I N D K R F Q | E T F E D V F S D R S L R p.100
. . . . . . g.7242
AAAGTGCCCTGGTACGTGCTAGCCGGAAACCATGACCACCTTGGCAATGTCTCTGCCCAG c.360
K V P W Y V L A G N H D H L G N V S A Q p.120
. . | 06 . . . g.7429
ATTGCATACTCTAAGATCTCCAAGCGCTG | GAACTTCCCCAGCCCTTTCTACCGCCTGCAC c.420
I A Y S K I S K R W | N F P S P F Y R L H p.140
. . . . . . g.7489
TTCAAGATCCCACAGACCAATGTGTCTGTGGCCATTTTTATGCTGGACACAGTGACACTA c.480
F K I P Q T N V S V A I F M L D T V T L p.160
. . . . . . g.7549
TGTGGCAACTCAGATGACTTCCTCAGCCAGCAGCCTGAGAGGCCCCGAGACGTGAAGCTG c.540
C G N S D D F L S Q Q P E R P R D V K L p.180
. . . . . . g.7609
GCCCGCACACAGCTGTCCTGGCTCAAGAAACAGCTGGCGGCGGCCAGGGAGGACTACGTG c.600
A R T Q L S W L K K Q L A A A R E D Y V p.200
. . . . . . g.7669
CTGGTGGCTGGCCACTACCCCGTGTGGTCCATAGCCGAGCACGGGCCTACCCACTGCCTG c.660
L V A G H Y P V W S I A E H G P T H C L p.220
. . . . . . g.7729
GTCAAGCAGCTACGGCCACTGCTGGCCACATACGGGGTCACTGCCTACCTGTGCGGCCAC c.720
V K Q L R P L L A T Y G V T A Y L C G H p.240
. | 07 . . . . . g.8779
GATCACAATCTGCAG | TACCTGCAAGATGAGAATGGCGTGGGCTACGTGCTGAGTGGGGCT c.780
D H N L Q | Y L Q D E N G V G Y V L S G A p.260
. . . . . . g.8839
GGGAATTTCATGGACCCCTCAAAGCGGCACCAGCGCAAGGTCCCCAACGGCTATCTGCGC c.840
G N F M D P S K R H Q R K V P N G Y L R p.280
. . . . . . g.8899
TTCCACTATGGGACTGAAGACTCACTGGGTGGCTTTGCCTATGTGGAGATCAGCTCCAAA c.900
F H Y G T E D S L G G F A Y V E I S S K p.300
. . . . . . g.8959
GAGATGACTGTCACTTACATCGAGGCCTCGGGCAAGTCCCTCTTTAAGACCAGGCTGCCG c.960
E M T V T Y I E A S G K S L F K T R L P p.320
. g.8977
AGGCGAGCCAGGCCCTGA c.978
R R A R P X p.325
. . . . . . g.9037
actcccatgactgcccagctctgaggcccgatctccactgttgggtgggtgggccctgcc c.*60
. . . . . . g.9097
gggaccctgctcacaggcaggcttttcctccaacctgtggcgctgcagcagggcaggaag c.*120
. . . . . . g.9157
gggaaacacagctgatgaactgtggtgccacatgacccttgtggcacagatgcccacgta c.*180
. . . . . . g.9217
tgtgaaacacacatggacatgtgtcccagccacagtgttatgctctgtggctggctcacc c.*240
. . . . . . g.9277
tttgctgagttccggggtgcaatgggggagggagggagggaaagcttcctcctaaatcaa c.*300
. . . . . g.9327
gcatctttctgttactgatgttcaataaaagaatagttgccaaggctgaa c.*350
(downstream sequence)
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