(used for variant description)
(last modified January 27, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001873.2 in the CPE gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering CPE transcript NM_001873.2.
(upstream sequence)
. . . g.5037
cgtctctccgccggccccctcctcgcagtggtttctc c.-241
. . . . . . g.5097
ctgcagctcccctgggctccgcggccagtagtgcagcccgtggagccgcggctttgcccg c.-181
. . . . . . g.5157
tctcctctgggtggccccagtgcgcgggctgacactcattcagccggggaaggtgaggcg c.-121
. . . . . . g.5217
agtagaggctggtgcggaacttgccgcccccagcagcgccggcgggctaagcccagggcc c.-61
. . . . . . g.5277
gggcagacaaaagaggccgcccgcgtaggaaggcacggccggcggcggcggagcgcagcg c.-1
. . . . . . g.5337
ATGGCCGGGCGAGGGGGCAGCGCGCTGCTGGCTCTGTGCGGGGCACTGGCTGCCTGCGGG c.60
M A G R G G S A L L A L C G A L A A C G p.20
. . . . . . g.5397
TGGCTCCTGGGCGCCGAAGCCCAGGAGCCCGGGGCGCCCGCGGCGGGCATGAGGCGGCGC c.120
W L L G A E A Q E P G A P A A G M R R R p.40
. . . . . . g.5457
CGGCGGCTGCAGCAAGAGGACGGCATCTCCTTCGAGTACCACCGCTACCCCGAGCTGCGC c.180
R R L Q Q E D G I S F E Y H R Y P E L R p.60
. . . . . . g.5517
GAGGCGCTCGTGTCCGTGTGGCTGCAGTGCACCGCCATCAGCAGGATTTACACGGTGGGG c.240
E A L V S V W L Q C T A I S R I Y T V G p.80
. . . . . . g.5577
CGCAGCTTCGAGGGCCGGGAGCTCCTGGTCATCGAGCTGTCCGACAACCCTGGCGTCCAT c.300
R S F E G R E L L V I E L S D N P G V H p.100
| 02. . . . . . g.90498
GAGCCTG | GTGAGCCTGAATTTAAATACATTGGGAATATGCATGGGAATGAGGCTGTTGGA c.360
E P G | E P E F K Y I G N M H G N E A V G p.120
. . . . . . g.90558
CGAGAACTGCTCATTTTCTTGGCCCAGTACCTATGCAACGAATACCAGAAGGGGAACGAG c.420
R E L L I F L A Q Y L C N E Y Q K G N E p.140
. . . . . . g.90618
ACAATTGTCAACCTGATCCACAGTACCCGCATTCACATCATGCCTTCCCTGAACCCAGAT c.480
T I V N L I H S T R I H I M P S L N P D p.160
. . | 03 . . . . g.93779
GGCTTTGAGAAGGCAGCGTCTCAG | CCTGGTGAACTCAAGGACTGGTTTGTGGGTCGAAGC c.540
G F E K A A S Q | P G E L K D W F V G R S p.180
. . . . . . g.93839
AATGCCCAGGGAATAGATCTGAACCGGAACTTTCCAGACCTGGATAGGATAGTGTACGTG c.600
N A Q G I D L N R N F P D L D R I V Y V p.200
. . . . . . g.93899
AATGAGAAAGAAGGTGGTCCAAATAATCATCTGTTGAAAAATATGAAGAAAATTGTGGAT c.660
N E K E G G P N N H L L K N M K K I V D p.220
. | 04 . . . . . g.108345
CAAAACACAAAG | CTTGCTCCTGAGACCAAGGCTGTCATTCATTGGATTATGGATATTCCT c.720
Q N T K | L A P E T K A V I H W I M D I P p.240
. . . . . . g.108405
TTTGTGCTTTCTGCCAATCTCCATGGAGGAGACCTTGTGGCCAATTATCCATATGATGAG c.780
F V L S A N L H G G D L V A N Y P Y D E p.260
. | 05 . . . . . g.110527
ACGCGGAGTG | GTAGTGCTCACGAATACAGCTCCTCCCCAGATGACGCCATTTTCCAAAGC c.840
T R S G | S A H E Y S S S P D D A I F Q S p.280
. . . . . . g.110587
TTGGCCCGGGCATACTCTTCTTTCAACCCGGCCATGTCTGACCCCAATCGGCCACCATGT c.900
L A R A Y S S F N P A M S D P N R P P C p.300
. . . . . . g.110647
CGCAAGAATGATGATGACAGCAGCTTTGTAGATGGAACCACCAACGGTGGTGCTTGGTAC c.960
R K N D D D S S F V D G T T N G G A W Y p.320
. | 06 . . . . . g.113540
AGCGTACCTGGAG | GGATGCAAGACTTCAATTACCTTAGCAGCAACTGTTTTGAGATCACC c.1020
S V P G G | M Q D F N Y L S S N C F E I T p.340
. . . . . . g.113600
GTGGAGCTTAGCTGTGAGAAGTTCCCACCTGAAGAGACTCTGAAGACCTACTGGGAGGAT c.1080
V E L S C E K F P P E E T L K T Y W E D p.360
. . . | 07 . . . g.119253
AACAAAAACTCCCTCATTAGCTACCTTGAGCAG | ATACACCGAGGAGTTAAAGGATTTGTC c.1140
N K N S L I S Y L E Q | I H R G V K G F V p.380
. . . . . . g.119313
CGAGACCTTCAAGGTAACCCAATTGCGAATGCCACCATCTCCGTGGAAGGAATAGACCAC c.1200
R D L Q G N P I A N A T I S V E G I D H p.400
. | 08 . . . . . g.121661
GATGTTACATCCG | CAAAGGATGGTGATTACTGGAGATTGCTTATACCTGGAAACTATAAA c.1260
D V T S A | K D G D Y W R L L I P G N Y K p.420
. . . . . . g.121721
CTTACAGCCTCAGCTCCAGGCTATCTGGCAATAACAAAGAAAGTGGCAGTTCCTTACAGC c.1320
L T A S A P G Y L A I T K K V A V P Y S p.440
. | 09 . . . . . g.123615
CCTGCTGCTGGG | GTTGATTTTGAACTGGAGTCATTTTCTGAAAGGAAAGAAGAGGAGAAG c.1380
P A A G | V D F E L E S F S E R K E E E K p.460
. . . . . g.123666
GAAGAATTGATGGAATGGTGGAAAATGATGTCAGAAACTTTAAATTTTTAA c.1431
E E L M E W W K M M S E T L N F X p.476
. . . . . . g.123726
aaaggcttctagttagctgctttaaatctatctatataatgtagtatgatgtaatgtggt c.*60
. . . . . . g.123786
cttttttttagattttgtgcagttaatacttaacattgatttattttttaatcatttaaa c.*120
. . . . . . g.123846
tattaatcaactttccttaaaataaatagcctcttaggtaaaaatataagaacttgatat c.*180
. . . . . . g.123906
atttcattctcttatatagtattcattttcctacctatattacacaaaaaagtatagaaa c.*240
. . . . . . g.123966
agatttaagtaattttgccatcctaggcttaaatgcaatattcctggtattatttacaat c.*300
. . . . . . g.124026
gcagaattttttgagtaattctagctttcaaaaattagtgaagttcttttactgtaattg c.*360
. . . . . . g.124086
gtgacaatgtcacataatgaatgctattgaaaaggttaacagatacagctcggagttgtg c.*420
. . . . . . g.124146
agcactctactgcaagacttaaatagttcagtataaattgtcgtttttttcttgtgctga c.*480
. . . . . . g.124206
ctaactataagcatgatcttgttaatgcatttttgatgggaagaaaaggtacatgtttac c.*540
. . . . . . g.124266
aaagaggttttatgaaaagaataaaaattgacttcttgcttgtacatataggagcaatac c.*600
. . . . . . g.124326
tattatattatgtagtccgttaacactacttaaaagtttagggttttctcttggttgtag c.*660
. . . . . . g.124386
agtggcccagaattgcattctgaatgaataaaggttaaaaaaaaatccccagtgcatgta c.*720
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 27
©2004-2022 Leiden University Medical Center