(used for variant description)
(last modified August 11, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_006587.3 in the CORIN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032679.1, covering CORIN transcript NM_006587.3.
(upstream sequence)
. . . g.4973
agagcagacaaaatatggggcccctggcgcttaaagt c.-121
. . . . . . g.5033
tcagtttgtctctcttgagcttggagaaaatcatccgtagtgcctccccgggggacacgt c.-61
. . . . . . g.5093
agaggagagaaaagcgaccaagataaaagtggacagaagaataagcgagactttttatcc c.-1
. . . . . . g.5153
ATGAAACAGTCTCCTGCCCTCGCTCCGGAAGAGCGCTGCCGCAGAGCCGGGTCCCCAAAG c.60
M K Q S P A L A P E E R C R R A G S P K p.20
| 02 . . . . . . g.36052
CCG | GTCTTGAGAGCTGATGACAATAACATGGGCAATGGCTGCTCTCAGAAGCTGGCGACT c.120
P | V L R A D D N N M G N G C S Q K L A T p.40
. . . . . . g.36112
GCTAACCTCCTCCGGTTCCTATTGCTGGTCCTGATTCCATGTATCTGTGCTCTCGTTCTC c.180
A N L L R F L L L V L I P C I C A L V L p.60
. . | 03 . . . g.56149
TTGCTGGTGATCCTGCTTTCCTATGTTG | GAACATTACAAAAGGTCTATTTTAAATCAAAT c.240
L L V I L L S Y V G | T L Q K V Y F K S N p.80
. . . . . . g.56209
GGGAGTGAACCTTTGGTCACTGATGGTGAAATCCAAGGGTCCGATGTTATTCTTACAAAT c.300
G S E P L V T D G E I Q G S D V I L T N p.100
. . . . . . g.56269
ACAATTTATAACCAGAGCACTGTGGTGTCTACTGCACATCCCGACCAACACGTTCCAGCC c.360
T I Y N Q S T V V S T A H P D Q H V P A p.120
. . . . | 04 . g.79467
TGGACTACGGATGCTTCTCTCCCAGGGGACCAAAGTCACAGGAATACAA | GTGCCTGTATG c.420
W T T D A S L P G D Q S H R N T S | A C M p.140
. . . . . . g.79527
AACATCACCCACAGCCAGTGTCAGATGCTGCCCTACCACGCCACGCTGACACCTCTCCTC c.480
N I T H S Q C Q M L P Y H A T L T P L L p.160
. . . . . . g.79587
TCAGTTGTCAGAAACATGGAAATGGAAAAGTTCCTCAAGTTTTTCACATATCTCCATCGC c.540
S V V R N M E M E K F L K F F T Y L H R p.180
. . . . . . g.79647
CTCAGTTGCTATCAACATATCATGCTGTTTGGCTGTACCCTCGCCTTCCCTGAGTGCATC c.600
L S C Y Q H I M L F G C T L A F P E C I p.200
. | 05. . . . . g.98502
ATTGATGGCGATGACAG | TCATGGACTCCTGCCCTGTAGGTCCTTCTGTGAGGCTGCAAAA c.660
I D G D D S | H G L L P C R S F C E A A K p.220
. . . . . . g.98562
GAAGGCTGTGAATCAGTCCTGGGGATGGTGAATTACTCCTGGCCGGATTTCCTCAGATGC c.720
E G C E S V L G M V N Y S W P D F L R C p.240
. . . . . . g.98622
TCCCAGTTTAGAAACCAAACTGAAAGCAGCAATGTCAGCAGAATTTGCTTCTCACCTCAG c.780
S Q F R N Q T E S S N V S R I C F S P Q p.260
. | 06 . . . . g.150000
CAGGAAAACGGAAAGCAAT | TGCTCTGTGGAAGGGGTGAGAACTTTCTGTGTGCCAGTGGA c.840
Q E N G K Q L | L C G R G E N F L C A S G p.280
. . . . . . g.150060
ATCTGCATCCCCGGGAAACTGCAATGTAATGGCTACAACGACTGTGACGACTGGAGTGAC c.900
I C I P G K L Q C N G Y N D C D D W S D p.300
. | 07 . . . . . g.159251
GAGGCTCATTGCA | ACTGCAGCGAGAATCTGTTTCACTGTCACACAGGCAAGTGCCTTAAT c.960
E A H C N | C S E N L F H C H T G K C L N p.320
. . . . . . g.159311
TACAGCCTTGTGTGTGATGGATATGATGACTGTGGGGATTTGAGTGATGAGCAAAACTGT c.1020
Y S L V C D G Y D D C G D L S D E Q N C p.340
| 08 . . . . . . g.162850
G | ATTGCAATCCCACAACAGAGCATCGCTGCGGGGACGGGCGCTGCATCGCCATGGAGTGG c.1080
D | C N P T T E H R C G D G R C I A M E W p.360
. . . . . | 09 . g.164996
GTGTGTGATGGTGACCACGACTGTGTGGATAAGTCTGACGAGGTCAACTGCT | CCTGTCAC c.1140
V C D G D H D C V D K S D E V N C S | C H p.380
. . . . . . g.165056
AGCCAGGGTCTGGTGGAATGCAGAAATGGACAATGTATCCCCAGCACGTTTCAATGTGAT c.1200
S Q G L V E C R N G Q C I P S T F Q C D p.400
. . . . | 10 . g.168553
GGTGACGAGGACTGCAAGGATGGGAGTGATGAGGAGAACTGCAGCGTCA | TTCAGACTTCA c.1260
G D E D C K D G S D E E N C S V I | Q T S p.420
. . . . . . g.168613
TGTCAAGAAGGAGACCAAAGATGCCTCTACAATCCCTGCCTTGATTCATGTGGTGGTAGC c.1320
C Q E G D Q R C L Y N P C L D S C G G S p.440
. . . | 11. . . g.177802
TCTCTCTGTGACCCGAACAACAGTCTGAATAACTGTA | GTCAATGTGAACCAATTACATTG c.1380
S L C D P N N S L N N C S | Q C E P I T L p.460
. . . . . . g.177862
GAACTCTGCATGAATTTGCCCTACAACAGTACAAGTTATCCAAATTATTTTGGCCACAGG c.1440
E L C M N L P Y N S T S Y P N Y F G H R p.480
. . . . . . g.177922
ACTCAAAAGGAAGCATCCATCAGCTGGGAGTCTTCTCTTTTCCCTGCACTTGTTCAAACC c.1500
T Q K E A S I S W E S S L F P A L V Q T p.500
. . . . . . g.177982
AACTGTTATAAATACCTCATGTTCTTTTCTTGCACCATTTTGGTACCAAAATGTGATGTG c.1560
N C Y K Y L M F F S C T I L V P K C D V p.520
. . | 12 . . . g.181217
AATACAGGCGAGCATATCCCTCCTTGCAG | GGCATTGTGTGAACACTCTAAAGAACGCTGT c.1620
N T G E H I P P C R | A L C E H S K E R C p.540
. . . . . . g.181277
GAGTCTGTTCTTGGGATTGTGGGCCTACAGTGGCCTGAAGACACAGATTGCAGTCAATTT c.1680
E S V L G I V G L Q W P E D T D C S Q F p.560
. . . . . | 13 . g.189387
CCAGAGGAAAATTCAGACAATCAAACCTGCCTGATGCCTGATGAATATGTGGAAG | AATGC c.1740
P E E N S D N Q T C L M P D E Y V E E | C p.580
. . . . . . g.189447
TCACCTAGTCATTTCAAGTGCCGCTCAGGACAGTGTGTTCTGGCTTCCAGAAGATGTGAT c.1800
S P S H F K C R S G Q C V L A S R R C D p.600
. . . . | 14 . . g.197865
GGCCAGGCCGACTGTGACGATGACAGTGATGAGGAAAACTGTG | GTTGTAAAGAGAGAGAT c.1860
G Q A D C D D D S D E E N C G | C K E R D p.620
. . . . . . g.197925
CTTTGGGAATGTCCATCCAATAAACAATGTTTGAAGCACACAGTGATCTGCGATGGGTTC c.1920
L W E C P S N K Q C L K H T V I C D G F p.640
. . . | 15. . . g.199809
CCAGACTGCCCTGATTACATGGACGAGAAAAACTGCT | CATTTTGCCAAGATGATGAGCTG c.1980
P D C P D Y M D E K N C S | F C Q D D E L p.660
. . . . . . g.199869
GAATGTGCAAACCATGCGTGTGTGTCACGTGACCTGTGGTGTGATGGTGAAGCCGACTGC c.2040
E C A N H A C V S R D L W C D G E A D C p.680
. . | 16 . . . g.201025
TCAGACAGTTCAGATGAATGGGACTGTG | TGACCCTCTCTATAAATGTGAACTCCTCTTCC c.2100
S D S S D E W D C V | T L S I N V N S S S p.700
. . . . . . g.201085
TTTCTGATGGTTCACAGAGCTGCCACAGAACACCATGTGTGTGCAGATGGCTGGCAGGAG c.2160
F L M V H R A A T E H H V C A D G W Q E p.720
. . . | 17 . . g.216543
ATATTGAGTCAGCTGGCCTGCAAGCAGATGGGTTTAGG | AGAACCATCTGTGACCAAATTG c.2220
I L S Q L A C K Q M G L G | E P S V T K L p.740
. . . . . . g.216603
ATACAGGAACAGGAGAAAGAGCCGCGGTGGCTGACATTACACTCCAACTGGGAGAGCCTC c.2280
I Q E Q E K E P R W L T L H S N W E S L p.760
. . . | 18 . . . g.219119
AATGGGACCACTTTACATGAACTTCTAGTAAATGG | GCAGTCTTGTGAGAGCAGAAGTAAA c.2340
N G T T L H E L L V N G | Q S C E S R S K p.780
. . | 19 . . . . g.219332
ATTTCTCTTCTGTGTACTAAACAAG | ACTGTGGGCGCCGCCCTGCTGCCCGAATGAACAAA c.2400
I S L L C T K Q D | C G R R P A A R M N K p.800
. . . . . . g.219392
AGGATCCTTGGAGGTCGGACGAGTCGCCCTGGAAGGTGGCCATGGCAGTGTTCTCTGCAG c.2460
R I L G G R T S R P G R W P W Q C S L Q p.820
. . . . . . g.219452
AGTGAACCCAGTGGACATATCTGTGGCTGTGTCCTCATTGCCAAGAAGTGGGTTCTGACA c.2520
S E P S G H I C G C V L I A K K W V L T p.840
. . | 20 . . . . g.239414
GTTGCCCACTGCTTCGAGGG | GAGAGAGAATGCTGCAGTTTGGAAAGTGGTGCTTGGCATC c.2580
V A H C F E G | R E N A A V W K V V L G I p.860
. . . . . . g.239474
AACAATCTAGACCATCCATCAGTGTTCATGCAGACACGCTTTGTGAAGACCATCATCCTG c.2640
N N L D H P S V F M Q T R F V K T I I L p.880
. . . . . . g.239534
CATCCCCGCTACAGTCGAGCAGTGGTGGACTATGACATCAGCATCGTTGAGCTGAGTGAA c.2700
H P R Y S R A V V D Y D I S I V E L S E p.900
. . . . . . g.239594
GACATCAGTGAGACTGGCTACGTCCGGCCTGTCTGCTTGCCCAACCCGGAGCAGTGGCTA c.2760
D I S E T G Y V R P V C L P N P E Q W L p.920
. . . . . | 21 . g.242703
GAGCCTGACACGTACTGCTATATCACAGGCTGGGGCCACATGGGCAATAAAA | TGCCATTT c.2820
E P D T Y C Y I T G W G H M G N K M | P F p.940
. . . . . . g.242763
AAGCTGCAAGAGGGAGAGGTCCGCATTATTTCTCTGGAACATTGTCAGTCCTACTTTGAC c.2880
K L Q E G E V R I I S L E H C Q S Y F D p.960
. . . . . . g.242823
ATGAAGACCATCACCACTCGGATGATATGTGCTGGCTATGAGTCTGGCACAGTTGATTCA c.2940
M K T I T T R M I C A G Y E S G T V D S p.980
| 22 . . . . . . g.247193
TGCATG | GGTGACAGCGGTGGGCCTCTTGTTTGTGAGAAGCCTGGAGGACGGTGGACATTA c.3000
C M | G D S G G P L V C E K P G G R W T L p.1000
. . . . . . g.247253
TTTGGATTAACTTCATGGGGCTCCGTCTGCTTTTCCAAAGTCCTGGGGCCTGGCGTTTAT c.3060
F G L T S W G S V C F S K V L G P G V Y p.1020
. . . . . . g.247313
AGTAATGTGTCATATTTCGTCGAATGGATTAAAAGACAGATTTACATCCAGACCTTTCTC c.3120
S N V S Y F V E W I K R Q I Y I Q T F L p.1040
g.247322
CTAAACTAA c.3129
L N X p.1042
. . . . . . g.247382
ttataaggatgatcagagacttttgccagctacactaaaagaaaatggccttcttgactg c.*60
. . . . . . g.247442
tgaagagctgcctgcagagagctgtacagaagcacttttcatggacagaaatgctcaatc c.*120
. . . . . . g.247502
gtgcactgcaaatttgcatgtttgttttggactaatttttttcaatttattttttcacct c.*180
. . . . . . g.247562
tcatttttctcttatttcaagttcaatgaaagactttacaaaagcaaacaaagcagactt c.*240
. . . . . . g.247622
tgtccttttgccaggcctaaccatgactgcagcacaaaattatcgactctggcgagattt c.*300
. . . . . . g.247682
aaaatcaggtgctacagtaacaggttatggaatggtctcttttatcctatcacaaaaaaa c.*360
. . . . . . g.247742
gacatagatatttaggctgattaattatctctaccagtttttgtttctcaagctcagtgc c.*420
. . . . . . g.247802
atagtggtaaatttcagtgttaacattggagacttgcttttctttttctttttttatacc c.*480
. . . . . . g.247862
ccacaattcttttttattacacttcgaattttagggtacacgagcacaacgtgcaggtta c.*540
. . . . . . g.247922
gttacatatgtatacatgtgccatgttggtgtgctgaacccagtaactcgtcatttgatt c.*600
. . . . . . g.247982
tattaaaagccaagataatttacatgtttaaagtatttactattacccccttctaatgtt c.*660
. . . . . . g.248042
tgcataattctgagaactgataaaagacagcaataaaagaccagtgtcatccatttaggt c.*720
. . . . . . g.248102
agcaagacatattgaatgcaaagttctttagatatcaatattaacacttgacattattgg c.*780
. . . . . . g.248162
accccccattctggatgtatatcaagatcataattttatagaagagtctctatagaactg c.*840
. . . . . . g.248222
tcctcatagctgggtttgttcaggatatatgagttggctgattgagactgcaacaactac c.*900
. . . . . . g.248282
atctatatttatgggcaatattttgttttacttatgtggcaaagaactggatattaaact c.*960
. . . . . . g.248342
ttgcaaaagagaatttagatgagagatgcaattttttaaaaagaaaattaatttgcatcc c.*1020
. . . . . . g.248402
ctcgtttaattaaatttatttttcagttttcttgcgttcatccataccaacaaagtcata c.*1080
. . . . . . g.248462
aagagcatattttagagcacagtaagactttgcatggagtaaaacattttgtaattttcc c.*1140
. . . . . . g.248522
tcaaaagatgtttaatatctggtttcttctcattggtaattaaaattttagaaatgattt c.*1200
. . . . . . g.248582
ttagctctaggccactttacgcaactcaatttctgaagcaattagtggtaaaaagtattt c.*1260
. . . . . . g.248642
ttccccactaaaaaactttaaaacacaaatcttcatatatacttaatttaattagtcagg c.*1320
. . . . . . g.248702
catccattttgccttttaaacaactaggattccctactaacctccaccagcaacctggac c.*1380
. . . . . . g.248762
tgcctcagcattccaaatagatactacctgcaattttatacatgtatttttgtatctttt c.*1440
. . . . . . g.248822
ctgtgtgtaaacatagttgaaattcaaaaagttgtagcaatttctatactattcatctcc c.*1500
. . . . . . g.248882
tgtccttcagtttgtataaacctaaggagagtgtgaaatccagcaactgaattgtggtca c.*1560
. . . . . . g.248942
cgattgtatgaaagttcaagaacatatgtcagttttgttacagttgtagctacatactca c.*1620
. . . . . . g.249002
atgtatcaacttttagcctgctcaacttaggctcagtgaaatatatatattatacttatt c.*1680
. . . . g.249045
ttaaataattcttaatacaaataaaatggtaatggtctaatca c.*1723
(downstream sequence)
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