(used for variant description)
(last modified December 18, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_006012.2 in the CLPP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering CLPP transcript NM_006012.2.
(upstream sequence)
g.5003
cct c.-121
. . . . . . g.5063
taatggcgcccgcccagactcctggaagtgagcggcctagcgagcgagctcccaggcgca c.-61
. . . . . . g.5123
aagcacgccggaagctgtagttccgccatcggacggaagccgaccggggcgtgcggaggg c.-1
. . . . . . g.5183
ATGTGGCCCGGAATATTGGTAGGGGGGGCCCGGGTGGCGTCATGCAGGTACCCCGCGCTG c.60
M W P G I L V G G A R V A S C R Y P A L p.20
. . . . . . g.5243
GGGCCTCGCCTCGCCGCTCACTTTCCAGCGCAGCGGCCGCCGCAGCGGACACTCCAGAAC c.120
G P R L A A H F P A Q R P P Q R T L Q N p.40
. . . . . . g.5303
GGCCTGGCCCTGCAGCGGTGCCTGCACGCGACGGCGACCCGGGCTCTCCCGCTCATTCCC c.180
G L A L Q R C L H A T A T R A L P L I P p.60
. | 02 . . . . g.5459
ATCGTGGTGGAGCAGACG | GGTCGCGGCGAGCGCGCCTATGACATCTACTCGCGGCTGCTG c.240
I V V E Q T | G R G E R A Y D I Y S R L L p.80
. . . | 03 . . . g.6024
CGGGAGCGCATCGTGTGCGTCATGGGCCCG | ATCGATGACAGCGTTGCCAGCCTTGTTATC c.300
R E R I V C V M G P | I D D S V A S L V I p.100
. . . . . . g.6084
GCACAGCTCCTCTTCCTGCAATCCGAGAGCAACAAGAAGCCCATCCACATGTACATCAAC c.360
A Q L L F L Q S E S N K K P I H M Y I N p.120
| 04. . . . . . g.8053
AGCCCTG | GTGGTGTGGTGACCGCGGGCCTGGCCATCTACGACACGATGCAGTACATCCTC c.420
S P G | G V V T A G L A I Y D T M Q Y I L p.140
. . . . . . g.8113
AACCCGATCTGCACCTGGTGCGTGGGCCAGGCCGCCAGCATGGGCTCCCTGCTTCTCGCC c.480
N P I C T W C V G Q A A S M G S L L L A p.160
. . . . . . g.8173
GCCGGCACCCCAGGCATGCGCCACTCGCTCCCCAACTCCCGTATCATGATCCACCAGCCC c.540
A G T P G M R H S L P N S R I M I H Q P p.180
. | 05 . . . . . g.9851
TCAGGAGGCGCCCGG | GGCCAAGCCACAGACATTGCCATCCAGGCAGAGGAGATCATGAAG c.600
S G G A R | G Q A T D I A I Q A E E I M K p.200
. . . . . . g.9911
CTCAAGAAGCAGCTCTATAACATCTACGCCAAGCACACCAAACAGAGCCTGCAGGTGATC c.660
L K K Q L Y N I Y A K H T K Q S L Q V I p.220
| 06 . . . . . . g.12145
G | AGTCCGCCATGGAGAGGGACCGCTACATGAGCCCCATGGAGGCCCAGGAGTTTGGCATC c.720
E | S A M E R D R Y M S P M E A Q E F G I p.240
. . . . . . g.12205
TTAGACAAGGTTCTGGTCCACCCTCCCCAGGACGGTGAGGATGAGCCCACGCTGGTGCAG c.780
L D K V L V H P P Q D G E D E P T L V Q p.260
. . . . . g.12259
AAGGAGCCTGTAGAAGCAGCGCCGGCAGCAGAACCTGTCCCAGCTAGCACCTGA c.834
K E P V E A A P A A E P V P A S T X p.277
. . . . . . g.12319
gagctgggcctcctctccagaatcatgtggaggggccagaggcctgccagacccccagct c.*60
. . . . . . g.12379
gggccctgctcaccccttgttgctgggcttggaggggcctcttgaggaacttttaatttg c.*120
. . . . . . g.12439
caggggtgcccgctatggacggggcattccagctgagacactgtgattttaaattaaatc c.*180
. g.12453
tttgtggtctttgc c.*194
(downstream sequence)
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