(used for variant description)
(last modified May 7, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005186.3 in the CAPN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering CAPN1 transcript NM_005186.3.
(upstream sequence)
g.5620
ga c.-181
. . . . . . g.5680
ggaagcggggtaggagccccaggaggaggaggaggagaaggagagagggagggcggaggg c.-121
. . . . . . g.5740
cggaggggcggcgggaggagggcggggaggagcgctcttcctggttgggccctgccctga c.-61
. . . . . . | 02 g.6487
gctgccaccgggaagccagcctcagggactgcagcgacccccaaacacccctcccccag | g c.-1
. . . . . . g.6547
ATGTCGGAGGAGATCATCACGCCGGTGTACTGCACTGGGGTGTCAGCCCAAGTGCAGAAG c.60
M S E E I I T P V Y C T G V S A Q V Q K p.20
. . . . . . g.6607
CAGCGGGCCAGGGAGCTGGGCCTGGGCCGCCATGAGAATGCCATCAAGTACCTGGGCCAG c.120
Q R A R E L G L G R H E N A I K Y L G Q p.40
. . . . . . g.6667
GATTATGAGCAGCTGCGGGTGCGATGCCTGCAGAGTGGGACCCTCTTCCGTGATGAGGCC c.180
D Y E Q L R V R C L Q S G T L F R D E A p.60
. . . . . . g.6727
TTCCCCCCGGTACCCCAGAGCCTGGGTTACAAGGACCTGGGTCCCAATTCCTCCAAGACC c.240
F P P V P Q S L G Y K D L G P N S S K T p.80
. . | 03. . . . g.6946
TATGGCATCAAGTGGAAGCGTCCCACG | GAACTGCTGTCAAACCCCCAGTTCATTGTGGAT c.300
Y G I K W K R P T | E L L S N P Q F I V D p.100
. . . | 04. . . g.7282
GGAGCTACCCGCACAGACATCTGCCAGGGAGCACTGG | GGGACTGCTGGCTCTTGGCGGCC c.360
G A T R T D I C Q G A L G | D C W L L A A p.120
. . . . . . g.7342
ATCGCCTCCCTCACTCTCAACGACACCCTCCTGCACCGAGTGGTTCCGCACGGCCAGAGC c.420
I A S L T L N D T L L H R V V P H G Q S p.140
. . . | 05 . . . g.9726
TTCCAGAATGGCTATGCCGGCATCTTCCATTTCCAG | CTGTGGCAATTTGGGGAGTGGGTG c.480
F Q N G Y A G I F H F Q | L W Q F G E W V p.160
. . . . . . g.9786
GACGTGGTCGTGGATGACCTGCTGCCCATCAAGGACGGGAAGCTAGTGTTCGTGCACTCT c.540
D V V V D D L L P I K D G K L V F V H S p.180
. . . . . | 06 . g.9965
GCCGAAGGCAACGAGTTCTGGAGCGCCCTGCTTGAGAAGGCCTATGCCAA | GGTAAATGGC c.600
A E G N E F W S A L L E K A Y A K | V N G p.200
. . . . . . g.10025
AGCTACGAGGCCCTGTCAGGGGGCAGCACCTCAGAGGGCTTTGAGGACTTCACAGGCGGG c.660
S Y E A L S G G S T S E G F E D F T G G p.220
. . . . . . g.10085
GTTACCGAGTGGTACGAGTTGCGCAAGGCTCCCAGTGACCTCTACCAGATCATCCTCAAG c.720
V T E W Y E L R K A P S D L Y Q I I L K p.240
. . . | 07 . . g.11021
GCGCTGGAGCGGGGCTCCCTGCTGGGCTGCTCCATAGAC | ATCTCCAGCGTTCTAGACATG c.780
A L E R G S L L G C S I D | I S S V L D M p.260
. . . . . . g.11081
GAGGCCATCACTTTCAAGAAGTTGGTGAAGGGCCATGCCTACTCTGTGACCGGGGCCAAG c.840
E A I T F K K L V K G H A Y S V T G A K p.280
| 08 . . . . . . g.11797
CAG | GTGAACTACCGAGGCCAGGTGGTGAGCCTGATCCGGATGCGGAACCCCTGGGGCGAG c.900
Q | V N Y R G Q V V S L I R M R N P W G E p.300
. . | 09 . . . g.12230
GTGGAGTGGACGGGAGCCTGGAGCGACAG | CTCCTCAGAGTGGAACAACGTGGACCCATAT c.960
V E W T G A W S D S | S S E W N N V D P Y p.320
. . . . | 10 . . g.12387
GAACGGGACCAGCTCCGGGTCAAGATGGAGGACGGGGAGTTCTG | GATGTCATTCCGAGAC c.1020
E R D Q L R V K M E D G E F W | M S F R D p.340
. . . . . . g.12447
TTCATGCGGGAGTTCACCCGCCTGGAGATCTGCAACCTCACACCCGACGCCCTCAAGAGC c.1080
F M R E F T R L E I C N L T P D A L K S p.360
. . . . . . g.12507
CGGACCATCCGCAAATGGAACACCACACTCTACGAAGGCACCTGGCGGCGGGGGAGCACC c.1140
R T I R K W N T T L Y E G T W R R G S T p.380
. . | 11 . . . . g.28503
GCGGGGGGCTGCCGAAACTACCCAG | CCACCTTCTGGGTGAACCCTCAGTTCAAGATCCGG c.1200
A G G C R N Y P A | T F W V N P Q F K I R p.400
. . . . . . g.28563
CTGGATGAGACGGATGACCCGGACGACTACGGGGACCGCGAGTCAGGCTGCAGCTTCGTG c.1260
L D E T D D P D D Y G D R E S G C S F V p.420
. . . . . . g.28623
CTCGCCCTTATGCAGAAGCACCGTCGCCGCGAGCGCCGCTTCGGCCGCGACATGGAGACT c.1320
L A L M Q K H R R R E R R F G R D M E T p.440
. . | 12 . | 13 . . . g.30275
ATTGGCTTCGCGGTCTACGAG | GTCCCTCCGGAG | CTGGTGGGCCAGCCGGCCGTACACTTG c.1380
I G F A V Y E | V P P E | L V G Q P A V H L p.460
. . . . . . g.30335
AAGCGTGACTTCTTCCTGGCCAATGCGTCTCGGGCGCGCTCAGAGCAGTTCATCAACCTG c.1440
K R D F F L A N A S R A R S E Q F I N L p.480
. . . . . . g.30395
CGAGAGGTCAGCACCCGCTTCCGCCTGCCACCCGGGGAGTATGTGGTGGTGCCCTCCACC c.1500
R E V S T R F R L P P G E Y V V V P S T p.500
. . . . . . g.30455
TTCGAGCCCAACAAGGAGGGCGACTTCGTGCTGCGCTTCTTCTCAGAGAAGAGTGCTGGG c.1560
F E P N K E G D F V L R F F S E K S A G p.520
| 14 . . . . | 15 . . g.31855
ACTGT | GGAGCTGGATGACCAGATCCAGGCCAATCTCCCCGATGAG | CAAGTGCTCTCAGAA c.1620
T V | E L D D Q I Q A N L P D E | Q V L S E p.540
. . . . . | 16 . g.31999
GAGGAGATTGACGAGAACTTCAAGGCCCTCTTCAGGCAGCTGGCAGGGGAG | GACATGGAG c.1680
E E I D E N F K A L F R Q L A G E | D M E p.560
. . . . | 17 . g.33119
ATCAGCGTGAAGGAGTTGCGGACAATCCTCAATAGGATCATCAGCAAAC | ACAAAGACCTG c.1740
I S V K E L R T I L N R I I S K H | K D L p.580
. . . . . | 18 . g.33640
CGGACCAAGGGCTTCAGCCTAGAGTCGTGCCGCAGCATGGTGAACCTCATGGAT | CGTGAT c.1800
R T K G F S L E S C R S M V N L M D | R D p.600
. . . . . . g.33700
GGCAATGGGAAGCTGGGCCTGGTGGAGTTCAACATCCTGTGGAACCGCATCCGGAATTAC c.1860
G N G K L G L V E F N I L W N R I R N Y p.620
| 19 . . . . . . g.33860
CTG | TCCATCTTCCGGAAGTTTGACCTGGACAAGTCGGGCAGCATGAGTGCCTACGAGATG c.1920
L | S I F R K F D L D K S G S M S A Y E M p.640
. . | 20 . . . . g.34159
CGGATGGCCATTGAGTCGGCAG | GCTTCAAGCTCAACAAGAAGCTGTACGAGCTCATCATC c.1980
R M A I E S A G | F K L N K K L Y E L I I p.660
. . . . . . g.34219
ACCCGCTACTCGGAGCCCGACCTGGCGGTCGACTTTGACAATTTCGTTTGCTGCCTGGTG c.2040
T R Y S E P D L A V D F D N F V C C L V p.680
. | 21 . . . . g.34640
CGGCTAGAGACCATGTTCC | GATTTTTCAAAACTCTGGACACAGATCTGGATGGAGTTGTG c.2100
R L E T M F R | F F K T L D T D L D G V V p.700
. | 22 . . g.35087
ACCTTTGACTTGTTTAAG | TGGTTGCAGCTGACCATGTTTGCATGA c.2145
T F D L F K | W L Q L T M F A X p.714
. . . . . . g.35147
ggcagggactcggtcccccttgccgtgctcccctccctcctcgtctgccaagcctcgcct c.*60
. . . . . . g.35207
cctaccacaccacaccaggccaccccagctgcaagtgccttccttggagcagagaggcag c.*120
. . . . . . g.35267
cctcgtcctcctgtcccctctcctcccagccaccatcgttcatctgctccgggcagaact c.*180
. . . . . . g.35327
gtgtggcccctgcctgtgccagccatgggctcgggatggactccctgggccccacccatt c.*240
. . . . . . g.35387
gccaagccaggaaggcagctttcgcttgttcctgcctcgggacagccccgggtttcccca c.*300
. . . . . . g.35447
gcatcctgatgtgtcccctctccccacttcagaggccacccactcagcaccaccggcctg c.*360
. . . . . . g.35507
gccttgcctgcagactataaactataaccactagctcgacacagtctgcagtccaggcgt c.*420
. . . . . . g.35567
gtggagccgcctcccggctcggggaggccccggggctgggaacgcctgtgccttcctgcg c.*480
. . . . . . g.35627
ccgaagccaacgccccctctgtccttccctggccctgctgccgaccaggagctgcccagc c.*540
. . . . . . g.35687
ctgtgggcggtcggccttccctccttcgctccttttttatattagtgattttaaagggga c.*600
. . . . . . g.35747
ctcttcagggacttgtgtactggttatgggggtgccagaggcactaggcttggggtgggg c.*660
. . . . . . g.35807
aggtcccgtgttccatatagaggaaccccaaataataaaaggccccacatctgtctgtga c.*720
(downstream sequence)
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