(used for variant description)
(last modified June 9, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_007046.3 in the EMILIN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_046849.1, covering EMILIN1 transcript NM_007046.3.
(upstream sequence)
. g.5019
gggaggggagccagcaggg c.-481
. . . . . . g.5079
aggaggaggccagggcccgccccacagccactctcgcgcctccgaacagccacaggggca c.-421
. . . . . . g.5139
aagccctgtcacccccaggatccggtcatcagggaaagaggacagggagaccagaagagg c.-361
. . . . . . g.5199
gccagctgggacgagggggcggacgcccaggaggcaacttctgagacgcagctcctgaga c.-301
. . . . . . g.5259
ggggcagggaccaggcgcgggaggccagagggggcacagagaacaaaccccctcagaagt c.-241
. . . . . . g.5319
gaagaggagagcggaaggaaccgagaggggacggacaggagctgaggaggaaagaggagg c.-181
. . . . . . g.5379
ggagaggggtcaggccaggcagccaaggagaagacgtgtggccgggggctatcagaagga c.-121
. . . . . . g.5439
aactgggacggacgggccgggctcgggctgtcctgtggagcagcagcatccccggggccg c.-61
. . . . . . g.5499
gcagaggcgccagtggctgggcgggatgagtctctgagggccactgtggagcgccccgcc c.-1
. . . . . . g.5559
ATGGCCCCCCGCACCCTCTGGAGCTGCTACCTCTGCTGCCTGCTGACGGCAGCTGCAGGG c.60
M A P R T L W S C Y L C C L L T A A A G p.20
. . . . . . g.5619
GCCGCCAGCTACCCTCCTCGAGGTTTCAGCCTCTACACAGGTTCCAGTGGGGCCCTCAGC c.120
A A S Y P P R G F S L Y T G S S G A L S p.40
. . . . . | 02 . g.6594
CCCGGGGGGCCCCAGGCCCAGATTGCCCCCCGGCCAGCCAGCCGCCACAG | GAACTGGTGT c.180
P G G P Q A Q I A P R P A S R H R | N W C p.60
. . . . . . g.6654
GCCTACGTGGTGACCCGGACAGTGAGCTGTGTCCTTGAGGATGGAGTGGAGACATATGTC c.240
A Y V V T R T V S C V L E D G V E T Y V p.80
. . . . . | 03 . g.7175
AAGTACCAGCCTTGTGCCTGGGGCCAGCCCCAGTGTCCCCAAAGCATCAT | GTACCGCCGC c.300
K Y Q P C A W G Q P Q C P Q S I M | Y R R p.100
. . . . . . g.7235
TTCCTCCGCCCTCGCTACCGTGTGGCCTACAAGACAGTGACCGACATGGAGTGGAGGTGC c.360
F L R P R Y R V A Y K T V T D M E W R C p.120
. . . . . . g.7295
TGTCAGGGTTATGGGGGCGATGACTGTGCTGAGAGTCCCGCTCCAGCGCTGGGGCCTGCG c.420
C Q G Y G G D D C A E S P A P A L G P A p.140
. . . . . . g.7355
TCTTCCACACCACGGCCCCTGGCCCAGCCTGCCCGCCCCAACCTCTCTGGCTCCAGTGCA c.480
S S T P R P L A Q P A R P N L S G S S A p.160
. . . | 04 . . . g.8545
GGCAGCCCCCTCAGTGGACTGGGGGGAGAAG | GTCCTGGGGAGTCAGAGAAGGTGCAGCAG c.540
G S P L S G L G G E G | P G E S E K V Q Q p.180
. . . . . . g.8605
CTGGAGGAACAGGTGCAGAGCCTGACCAAGGAGCTGCAAGGCCTGCGGGGCGTCCTGCAA c.600
L E E Q V Q S L T K E L Q G L R G V L Q p.200
. . . . . . g.8665
GGACTGAGCGGGCGCCTGGCAGAGGATGTGCAGAGGGCTGTGGAGACGGCCTTCAACGGG c.660
G L S G R L A E D V Q R A V E T A F N G p.220
. . . . . . g.8725
AGGCAGCAGCCAGCTGACGCGGCTGCCCGCCCTGGGGTGCATGAAACCCTCAATGAGATC c.720
R Q Q P A D A A A R P G V H E T L N E I p.240
. . . . . . g.8785
CAGCACCAGCTGCAGCTCCTGGACACCCGCGTCTCCACCCACGACCAGGAGCTGGGTCAC c.780
Q H Q L Q L L D T R V S T H D Q E L G H p.260
. . . . . . g.8845
CTCAACAACCATCATGGCGGCAGCAGCAGCAGTGGGGGCAGCAGGGCCCCAGCCCCAGCC c.840
L N N H H G G S S S S G G S R A P A P A p.280
. . . . . . g.8905
TCAGCCCCTCCGGGCCCCAGTGAGGAGCTGCTGCGGCAGCTGGAGCAGCGGTTGCAGGAG c.900
S A P P G P S E E L L R Q L E Q R L Q E p.300
. . . . . . g.8965
TCCTGCTCCGTGTGCCTGGCCGGGCTAGATGGCTTCCGCCGGCAGCAGCAGGAGGACAGG c.960
S C S V C L A G L D G F R R Q Q Q E D R p.320
. . . . . . g.9025
GAGCGGCTGCGAGCGATGGAGAAGCTGCTGGCCTCGGTGGAGGAGCGGCAACGGCACCTC c.1020
E R L R A M E K L L A S V E E R Q R H L p.340
. . . . . . g.9085
GCAGGGCTGGCGGTGGGCCGCAGGCCCCCTCAGGAATGCTGCTCTCCAGAGCTGGGCCGG c.1080
A G L A V G R R P P Q E C C S P E L G R p.360
. . . . . . g.9145
CGACTGGCAGAGCTGGAGCGCAGGCTGGATGTCGTGGCCGGCTCAGTGACAGTGCTGAGT c.1140
R L A E L E R R L D V V A G S V T V L S p.380
. . . . . . g.9205
GGGCGGCGAGGCACAGAGCTGGGAGGAGCCGCGGGGCAGGGAGGCCACCCCCCAGGCTAC c.1200
G R R G T E L G G A A G Q G G H P P G Y p.400
. . . . . . g.9265
ACCAGCTTGGCCTCCCGCCTGTCTCGCCTGGAGGACCGCTTCAACTCCACCCTGGGCCCT c.1260
T S L A S R L S R L E D R F N S T L G P p.420
. . . . . . g.9325
TCGGAGGAGCAGGAGGAGAGCTGGCCTGGGGCTCCTGGGGGGCTGAGCCACTGGCTGCCT c.1320
S E E Q E E S W P G A P G G L S H W L P p.440
. . . . . . g.9385
GCTGCCCGGGGCCGACTAGAGCAGTTGGGGGGGCTGCTGGCCAATGTGAGCGGGGAGCTG c.1380
A A R G R L E Q L G G L L A N V S G E L p.460
. . . . . . g.9445
GGGGGGCGGTTGGATCTGTTGGAGGAGCAGGTGGCAGGGGCCATGCAGGCATGCGGGCAG c.1440
G G R L D L L E E Q V A G A M Q A C G Q p.480
. . . . . . g.9505
CTCTGCTCTGGGGCCCCTGGGGAGCAGGACTCTCAAGTCAGCGAGATCCTCAGTGCCTTG c.1500
L C S G A P G E Q D S Q V S E I L S A L p.500
. . . . . . g.9565
GAGCGCAGGGTGCTGGACAGTGAGGGGCAGCTGCGGCTGGTGGGCTCCGGCCTGCACACG c.1560
E R R V L D S E G Q L R L V G S G L H T p.520
. . . . . . g.9625
GTGGAAGCAGCGGGGGAGGCCCGGCAGGCCACGCTGGAGGGATTACAAGAGGTTGTGGGC c.1620
V E A A G E A R Q A T L E G L Q E V V G p.540
. . . . . . g.9685
CGGCTCCAGGATCGTGTGGATGCCCAGGATGAGACAGCTGCAGAGTTCACACTACGGCTG c.1680
R L Q D R V D A Q D E T A A E F T L R L p.560
. . . . . . g.9745
AATCTCACTGCGGCCCGGCTAGGCCAACTGGAGGGGCTGCTGCAGGCCCATGGGGATGAG c.1740
N L T A A R L G Q L E G L L Q A H G D E p.580
. . . . . . g.9805
GGCTGTGGGGCCTGTGGCGGAGTCCAAGAGGAACTAGGCCGCCTTCGGGATGGTGTGGAG c.1800
G C G A C G G V Q E E L G R L R D G V E p.600
. . . . . . g.9865
CGCTGCTCCTGCCCCCTGTTGCCTCCTCGGGGTCCTGGGGCTGGTCCAGGTGTTGGGGGC c.1860
R C S C P L L P P R G P G A G P G V G G p.620
. . . . . . g.9925
CCAAGCCGTGGGCCCCTGGACGGCTTCAGCGTGTTTGGGGGCAGCTCAGGCTCAGCCCTG c.1920
P S R G P L D G F S V F G G S S G S A L p.640
. . . . . . g.9985
CAGGCCCTGCAAGGAGAGCTCTCTGAGGTTATTCTCAGCTTCAGCTCCCTCAATGACTCA c.1980
Q A L Q G E L S E V I L S F S S L N D S p.660
. . . . . . g.10045
CTGAATGAGCTCCAGACCACTGTGGAGGGCCAGGGCGCTGATCTGGCTGACCTGGGGGCA c.2040
L N E L Q T T V E G Q G A D L A D L G A p.680
. . . . . . g.10105
ACCAAGGACCGTATCATTTCTGAGATTAACAGGCTGCAGCAGGAGGCCACAGAGCATGCT c.2100
T K D R I I S E I N R L Q Q E A T E H A p.700
. . . . . . g.10165
ACAGAGAGTGAAGAGCGCTTCCGAGGCCTAGAGGAGGGACAAGCACAGGCCGGCCAGTGC c.2160
T E S E E R F R G L E E G Q A Q A G Q C p.720
. . . . . . g.10225
CCCAGCTTAGAGGGGCGATTGGGCCGTCTTGAGGGTGTCTGTGAACGGTTGGACACTGTG c.2220
P S L E G R L G R L E G V C E R L D T V p.740
. . . . . . g.10285
GCTGGGGGACTGCAGGGCCTGCGCGAGGGCCTTTCCAGACACGTGGCTGGGCTCTGGGCT c.2280
A G G L Q G L R E G L S R H V A G L W A p.760
. . . . . . g.10345
GGGCTCCGGGAAACCAACACCACCAGCCAGATGCAGGCAGCCCTGCTGGAGAAGCTGGTC c.2340
G L R E T N T T S Q M Q A A L L E K L V p.780
. . . . . . g.10405
GGGGGACAGGCGGGCCTGGGCAGGCGGCTGGGTGCCCTTAACAGCTCCCTGCAGCTCCTG c.2400
G G Q A G L G R R L G A L N S S L Q L L p.800
. . . . | 05 . . g.10868
GAGGACCGTCTGCACCAGCTCAGCCTGAAGGACCTCACTG | GGCCTGCAGGAGAGGCTGGG c.2460
E D R L H Q L S L K D L T G | P A G E A G p.820
. . . . . . g.10928
CCCCCAGGGCCTCCTGGGCTGCAGGGACCCCCAGGCCCTGCTGGACCTCCAGGATCACCA c.2520
P P G P P G L Q G P P G P A G P P G S P p.840
. . . | 06. . | 07 . g.11598
GGCAAGGACGGGCAAGAGGGCCCCATCGGGCCACCAG | GTCCTCAAGGTGAACAGG | GAGTG c.2580
G K D G Q E G P I G P P G | P Q G E Q G | V p.860
. . . . . . g.11658
GAGGGGGCACCAGCAGCCCCTGTGCCCCAAGTGGCATTTTCAGCTGCTCTGAGTTTGCCC c.2640
E G A P A A P V P Q V A F S A A L S L P p.880
. . . . . . g.11718
CGGTCTGAACCAGGCACGGTCCCCTTCGACAGAGTCCTGCTCAATGATGGAGGCTATTAT c.2700
R S E P G T V P F D R V L L N D G G Y Y p.900
. | 08 . . . . . g.12158
GATCCAGAGACAG | GCGTGTTCACAGCGCCACTGGCTGGACGCTACTTGCTGAGCGCGGTG c.2760
D P E T G | V F T A P L A G R Y L L S A V p.920
. . . . . . g.12218
CTGACTGGGCACCGGCACGAGAAAGTGGAGGCCGTGCTGTCCCGCTCCAACCAGGGCGTG c.2820
L T G H R H E K V E A V L S R S N Q G V p.940
. . . . . . g.12278
GCCCGCGTAGACTCCGGTGGCTACGAGCCTGAGGGCCTGGAGAATAAGCCGGTGGCCGAG c.2880
A R V D S G G Y E P E G L E N K P V A E p.960
. . . . . . g.12338
AGCCAGCCCAGCCCGGGCACCCTGGGCGTCTTCAGCCTCATCCTGCCGCTGCAGGCCGGG c.2940
S Q P S P G T L G V F S L I L P L Q A G p.980
. . . . . . g.12398
GACACGGTCTGCGTCGACCTGGTCATGGGGCAGCTGGCGCACTCGGAGGAGCCGCTCACC c.3000
D T V C V D L V M G Q L A H S E E P L T p.1000
. . . . . g.12449
ATCTTCAGCGGGGCCCTGCTCTATGGGGACCCAGAGCTTGAACACGCGTAG c.3051
I F S G A L L Y G D P E L E H A X p.1016
. . . . . . g.12509
actggggtcccgcccgacgtgtctacgtcggctgaagagacagcgggggcggcgggctcc c.*60
. . . . . . g.12569
tggggtctcgcctgagacggggcacctagccctgggcgagcgccgcacccgggcccgcag c.*120
. . . . . . g.12629
cggcaccgcgcccagagcggcctctccccacgcccggggcgcgccggctcagggaggctc c.*180
. . . . . . g.12689
ggggccgcccatgcagacttttggcctggcgcgatcccccaagaacccctccagggccgg c.*240
. . . . . . g.12749
cctgcggaggagccgatcctcgcaccctccgctccctccactggccctccaggtcgattc c.*300
. . . . . . g.12809
cctgggctccaggctcccccgcgcgggcgccgcccaccgccatactaaacgatcgaggaa c.*360
. . g.12837
taaagacacttggtttttctaaaaaaaa c.*388
(downstream sequence)
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