(used for variant description)
(last modified May 27, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_017659.3 in the QPCTL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering QPCTL transcript NM_017659.3.
(upstream sequence)
. . . . g.5041
catttgggtcgtgccattctcaggggaaccaaccccaatac c.-181
. . . . . . g.5101
ctaagggaggctgggaggcgtgtcctcaggaccgtagttcttattggtttcgctgctcgc c.-121
. . . . . . g.5161
tgtggggtgggctggtgcagccgcagctgttgcttattggcccaccgattccatggggag c.-61
. . . . . . g.5221
gaacttggctgggcctaaactcaatccgtggtctggtacaggtttcagggcaaagcggcc c.-1
. . . . . . g.5281
ATGCGTTCCGGGGGCCGCGGGCGACCCCGCCTGCGGCTGGGGGAACGTGGCCTCATGGAG c.60
M R S G G R G R P R L R L G E R G L M E p.20
. . . . . . g.5341
CCACTCTTGCCGCCGAAGCGCCGCCTGCTACCGCGGGTTCGGCTCTTGCCTCTGTTGCTG c.120
P L L P P K R R L L P R V R L L P L L L p.40
. . . . . . g.5401
GCGCTGGCCGTGGGCTCGGCGTTCTACACCATTTGGAGCGGCTGGCACCGCAGGACTGAG c.180
A L A V G S A F Y T I W S G W H R R T E p.60
. . | 02. . . . g.5963
GAGCTGCCGCTGGGCCGGGAGCTGCGG | GTCCCATTGATCGGAAGCCTCCCCGAAGCCCGG c.240
E L P L G R E L R | V P L I G S L P E A R p.80
. . . . . . g.6023
CTGCGGAGGGTGGTGGGACAACTGGATCCACAGCGTCTCTGGAGCACTTATCTGCGCCCC c.300
L R R V V G Q L D P Q R L W S T Y L R P p.100
. . . . . | 03 . g.7963
CTGCTGGTTGTGCGAACCCCGGGCAGCCCGGGAAATCTCCAAGTCAGAAAG | TTCCTGGAG c.360
L L V V R T P G S P G N L Q V R K | F L E p.120
. . . . . . g.8023
GCCACGCTGCGGTCCCTGACAGCAGGTTGGCACGTGGAGCTGGATCCCTTCACAGCCTCA c.420
A T L R S L T A G W H V E L D P F T A S p.140
. . . . . . g.8083
ACACCCCTGGGGCCAGTGGACTTTGGCAATGTGGTGGCCACACTGGACCCAAGGGCTGCC c.480
T P L G P V D F G N V V A T L D P R A A p.160
. . . . . . g.8143
CGTCACCTCACCCTTGCCTGCCATTATGACTCGAAGCTCTTCCCACCCGGATCGACCCCC c.540
R H L T L A C H Y D S K L F P P G S T P p.180
. . . . . . g.8203
TTTGTAGGGGCCACGGATTCGGCTGTGCCCTGTGCCCTGCTGCTGGAGCTGGCCCAAGCA c.600
F V G A T D S A V P C A L L L E L A Q A p.200
. . . | 04 . . . g.11091
CTTGACCTGGAGCTGAGCAGGGCCAAAAAACAG | GCAGCCCCGGTGACCCTGCAACTGCTC c.660
L D L E L S R A K K Q | A A P V T L Q L L p.220
. . . . . . g.11151
TTCTTGGATGGTGAAGAGGCGCTGAAGGAGTGGGGACCCAAGGACTCCCTTTACGGTTCC c.720
F L D G E E A L K E W G P K D S L Y G S p.240
. . . . . . g.11211
CGGCACCTGGCCCAGCTCATGGAGTCTATACCTCACAGCCCCGGCCCCACCAGGATCCAG c.780
R H L A Q L M E S I P H S P G P T R I Q p.260
| 05 . . . . . . g.11372
GCTATT | GAGCTCTTTATGCTTCTTGATCTCCTGGGAGCCCCCAATCCCACCTTCTACAGC c.840
A I | E L F M L L D L L G A P N P T F Y S p.280
. . . . | 06 . . g.14329
CACTTCCCTCGCACGGTCCGCTGGTTCCATCGGCTGAGGAGCATTG | AGAAGCGTCTGCAC c.900
H F P R T V R W F H R L R S I E | K R L H p.300
. . . . . . g.14389
CGTTTGAACCTGCTGCAGTCTCATCCCCAGGAAGTGATGTACTTCCAACCCGGGGAGCCC c.960
R L N L L Q S H P Q E V M Y F Q P G E P p.320
. . . . | 07 . . g.15438
TTTGGCTCTGTGGAAGACGACCACATCCCCTTCCTCCGCAGAG | GGGTACCCGTGCTCCAT c.1020
F G S V E D D H I P F L R R G | V P V L H p.340
. . . . . . g.15498
CTCATCTCCACGCCCTTCCCTGCTGTCTGGCACACCCCTGCGGACACCGAGGTCAATCTC c.1080
L I S T P F P A V W H T P A D T E V N L p.360
. . . . . . g.15558
CACCCACCCACGGTACACAACTTGTGCCGCATTCTCGCTGTGTTCCTGGCTGAATACCTG c.1140
H P P T V H N L C R I L A V F L A E Y L p.380
g.15567
GGGCTCTAG c.1149
G L X p.382
. . . . . . g.15627
cgtgcttggccaatgactgtggagaggactgtgagagagaaggtcccagcgggggccagt c.*60
. . . . . . g.15687
gaagctcaggcaggatctgcctagggtgtgctggtttgtccttttcatacctttgtctcc c.*120
. . . . . . g.15747
taattgtgctacaattggaagaccttctttcttttgattgtctcaagctgccacccttca c.*180
. . . . . . g.15807
aggacagggaagagaccactgtgggatgacagccagaggaataagaacttgctccctccc c.*240
. . . . . . g.15867
cagaggtaaacacttggtccaaaggtttgcagggaccaaatactgttctttttttttttg c.*300
. . . . . . g.15927
agacggagtctcactgtgttgcccaggctggagtgcagtggtgcgatctcggctcactgc c.*360
. . . . . . g.15987
aaactccgcctcctgggttcacgccattctcctgcctcagcctcccaagtagctgggact c.*420
. . . . . . g.16047
acaggtgcccgccaccacgctggctaattttttgtatttttagtagagacggggtttcac c.*480
. . . . . . g.16107
cgtgttagccaggatggtctcgatctcctgaccttgtaatccgccagcctcggcctccca c.*540
. . . . . . g.16167
aagtgctgggattacaggtgtgagccaccgcacctggcaaaatgctgttctttaagtcag c.*600
. . . . . . g.16227
cgaactgaaaaagtaaaagactgctgggtgtggtggctcacacctgtaatcccaacactt c.*660
. . . . . . g.16287
tgagaggctgagggggaaggatcacccgaggtcaggagtttgagaccagcctggtcaaca c.*720
. . . . . . g.16347
tggcgaaaccctgtctctactaaaaatacaataattagctgggcatggtggtgggcgcct c.*780
. . . . . . g.16407
gtaatctcagctgcttgggaggctgaggcaggagaatcacttgtacgcaggaggcggagg c.*840
. . . . . . g.16467
ttgcagtgagccaagatcacaccactgcactccagcctgggcaacagagcgagactccat c.*900
. . . . g.16508
ctcaataaataaataaataaataaatattttttaaaaagag c.*941
(downstream sequence)
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