(used for variant description)
(last modified October 23, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_023083.3 in the CAPN10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011558.2, covering CAPN10 transcript NM_023083.3.
(upstream sequence)
. g.5016
cgcctggttaccaatg c.-181
. . . . . . g.5076
ggagactagcgggccggcgtactggcctggtccagcacctgcggggccctcgggcttgga c.-121
. . . . . . g.5136
gggctgggccgggcggggaacgggcggggcgggccggaggcggcggcggctgactcgcct c.-61
. . . . . . g.5196
tctctccggggctgcgaccccgaggcaaccggctgcagatgggagcccgcggagccgagg c.-1
. . . . . . g.5256
ATGCGGGCGGGCCGGGGCGCGACGCCGGCGAGGGAGCTGTTCCGGGACGCCGCCTTCCCC c.60
M R A G R G A T P A R E L F R D A A F P p.20
. . . . . . g.5316
GCCGCGGACTCCTCGCTCTTCTGCGACTTGTCTACGCCGCTGGCCCAGTTCCGCGAGGAC c.120
A A D S S L F C D L S T P L A Q F R E D p.40
. . | 02 . . . . g.7666
ATCACGTGGAGGCGGCCCCAG | GAGATTTGTGCCACACCCCGGCTGTTTCCAGATGACCCA c.180
I T W R R P Q | E I C A T P R L F P D D P p.60
. . . . . . g.7726
CGGGAAGGGCAGGTGAAGCAGGGGCTGCTGGGGGATTGCTGGTTCCTGTGTGCCTGCGCC c.240
R E G Q V K Q G L L G D C W F L C A C A p.80
. . . | 03 . . . g.9126
GCGCTGCAGAAGAGCAGGCACCTCCTGGACCAG | GTCATTCCTCCGGGACAGCCGAGCTGG c.300
A L Q K S R H L L D Q | V I P P G Q P S W p.100
. . . . . . g.9186
GCCGACCAGGAGTACCGGGGCTCCTTCACCTGTCGCATTTGGCAGTTTGGACGCTGGGTG c.360
A D Q E Y R G S F T C R I W Q F G R W V p.120
. . . . . . g.9246
GAGGTGACCACAGATGACCGCCTGCCGTGCCTTGCAGGGAGACTCTGTTTCTCCCGCTGC c.420
E V T T D D R L P C L A G R L C F S R C p.140
. . . . . | 04 . g.10227
CAGAGGGAGGATGTGTTCTGGCTCCCCTTACTGGAAAAGGTCTACGCCAA | GGTCCATGGG c.480
Q R E D V F W L P L L E K V Y A K | V H G p.160
. . . . . . g.10287
TCCTACGAGCACCTGTGGGCCGGGCAGGTGGCGGATGCCCTGGTGGACCTGACCGGCGGC c.540
S Y E H L W A G Q V A D A L V D L T G G p.180
. . . . . . g.10347
CTGGCAGAAAGATGGAACCTGAAGGGCGTAGCAGGAAGCGGAGGCCAGCAGGACAGGCCA c.600
L A E R W N L K G V A G S G G Q Q D R P p.200
. . . . . . g.10407
GGCCGCTGGGAGCACAGGACTTGTCGGCAGCTGCTCCACCTGAAGGACCAGTGTCTGATC c.660
G R W E H R T C R Q L L H L K D Q C L I p.220
. . | 05 . . . g.12222
AGCTGCTGCGTGCTCAGCCCCAGAGCAG | GTGCCCGGGAGCTGGGGGAGTTCCATGCCTTC c.720
S C C V L S P R A G | A R E L G E F H A F p.240
. . . . . . g.12282
ATTGTCTCGGACCTGCGGGAGCTCCAGGGTCAGGCGGGCCAGTGCATCCTGCTGCTGCGG c.780
I V S D L R E L Q G Q A G Q C I L L L R p.260
. . . . . | 06 . g.12837
ATCCAGAACCCCTGGGGCCGGCGGTGCTGGCAGGGGCTCTGGAGAGAGGG | GGGTGAAGGG c.840
I Q N P W G R R C W Q G L W R E G | G E G p.280
. . . . . . g.12897
TGGAGCCAGGTAGATGCAGCGGTAGCATCTGAGCTCCTGTCCCAGCTCCAGGAAGGGGAG c.900
W S Q V D A A V A S E L L S Q L Q E G E p.300
. . . . . . g.12957
TTCTGGGTGGAGGAGGAGGAGTTCCTCAGGGAGTTTGACGAGCTCACCGTTGGCTACCCG c.960
F W V E E E E F L R E F D E L T V G Y P p.320
. . . | 07. . . g.13331
GTCACGGAGGCCGGCCACCTGCAGAGCCTCTACACAG | AGAGGCTGCTCTGCCATACGCGG c.1020
V T E A G H L Q S L Y T E | R L L C H T R p.340
. . . . . . g.13391
GCGCTGCCTGGGGCCTGGGTCAAGGGCCAGTCAGCAGGAGGCTGCCGGAACAACAGCGGC c.1080
A L P G A W V K G Q S A G G C R N N S G p.360
. . . . . . g.13451
TTTCCCAGCAACCCCAAATTCTGGCTGCGGGTCTCAGAACCGAGTGAGGTGTACATTGCC c.1140
F P S N P K F W L R V S E P S E V Y I A p.380
. . . . . . g.13511
GTCCTGCAGAGATCCAGGCTGCACGCGGCGGACTGGGCAGGCCGGGCCCGGGCACTGGTG c.1200
V L Q R S R L H A A D W A G R A R A L V p.400
. . . . . . g.13571
GGTGACAGTCATACTTCGTGGAGCCCAGCGAGCATCCCGGGCAAGCACTACCAGGCTGTG c.1260
G D S H T S W S P A S I P G K H Y Q A V p.420
. | 08 . . . . g.14645
GGTCTGCACCTCTGGAAG | GTAGAGAAGCGGCGGGTCAATCTGCCTAGGGTCCTGTCCATG c.1320
G L H L W K | V E K R R V N L P R V L S M p.440
. . . . . . g.14705
CCCCCCGTGGCTGGCACCGCGTGCCATGCATACGACCGGGAGGTCCACCTGCGTTGTGAG c.1380
P P V A G T A C H A Y D R E V H L R C E p.460
. . . . . . g.14765
CTCTCACCGGGCTACTACCTGGCTGTCCCCAGCACCTTCCTGAAGGACGCGCCAGGGGAG c.1440
L S P G Y Y L A V P S T F L K D A P G E p.480
. . . . | 09 . . g.14984
TTCCTGCTCCGAGTCTTCTCTACCGGGCGAGTCTCCCTTAG | CGCCATCAGGGCAGTGGCC c.1500
F L L R V F S T G R V S L S | A I R A V A p.500
. . . . . . g.15044
AAGAACACCACCCCCGGGGCAGCCCTGCCTGCGGGGGAGTGGGGGACCGTGCAGCTACGG c.1560
K N T T P G A A L P A G E W G T V Q L R p.520
. . . . . . g.15104
GGTTCTTGGAGAGTCGGCCAGACGGCGGGGGGCAGCAGGAACTTTGCCTCATACCCCACC c.1620
G S W R V G Q T A G G S R N F A S Y P T p.540
. . . . . . g.15164
AACCCCTGCTTCCCCTTCTCGGTCCCCGAGGGCCCTGGCCCCCGCTGCGTCCGCATCACT c.1680
N P C F P F S V P E G P G P R C V R I T p.560
. . . . . . g.15224
CTGCATCAGCACTGCCGGCCCAGTGACACCGAGTTCCACCCCATCGGCTTCCATATCTTC c.1740
L H Q H C R P S D T E F H P I G F H I F p.580
| 10 . . . . . . g.16229
CAG | GTCCCAGAGGGTGGAAGGAGCCAGGACGCACCCCCACTGCTGCTGCAGGAGCCGCTG c.1800
Q | V P E G G R S Q D A P P L L L Q E P L p.600
. . . . . . g.16289
CTGAGCTGCGTGCCACATCGCTACGCCCAGGAGGTGAGCCGGCTCTGCCTCCTGCCTGCG c.1860
L S C V P H R Y A Q E V S R L C L L P A p.620
. . . . . . g.16349
GGCACCTACAAGGTTGTGCCCTCCACCTACCTGCCGGACACAGAGGGGGCCTTCACAGTG c.1920
G T Y K V V P S T Y L P D T E G A F T V p.640
. . | 11 . . . . g.16673
ACCATCGCAACCAGGATTGACAG | GCCATCCATTCACAGCCAGGAGATGCTGGGCCAGTTC c.1980
T I A T R I D R | P S I H S Q E M L G Q F p.660
| 12 . . g.16986
CTCCAAGAG | GTCTCCGTCATGGCAGTGATGAAAACCTAA c.2019
L Q E | V S V M A V M K T X p.672
. . . . . . g.17046
cagggtggccccctgtgccagctcaggtgactggagcccgagggcctgacaggttcccag c.*60
. . . . . . g.17106
cagctgggccggccagccttgcactgtgggggctggtcctgagtcttggcctgcctccca c.*120
. . . . . . g.17166
gccctgccaggaggctgcggcctaggggtccacgggaagcctccgtcaggagagacgcag c.*180
. . . . . . g.17226
ccctgggggccagctggtgctgcaaggaagggtgggaagcttgctggcttctgttgcgcc c.*240
. . . . . . g.17286
actgagacggcagagaccccaggatcccagagcttcccaggatccctcccagatcctctg c.*300
. . . . . . g.17346
ctgactccatatggaggcctcacacccagagggtagggcagcagatcttctttataacta c.*360
. . . . . . g.17406
tttattgttcgaatcacttttaggatgtaactttataaataaacatgagcgctgatgatt c.*420
g.17415
tgcagatca c.*429
(downstream sequence)
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