(used for variant description)
(last modified March 20, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_032985.4 in the SEC23B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016281.1, covering SEC23B transcript NM_032985.4.
(upstream sequence)
. . . . g.5041
gagcatacgtcatcgttctcgctttccggtagctaaggcga c.-421
. . . . . . g.5101
tcagcgggacttcccactgagacgagcggatgtcatattgtatcagggcgaacctctgag c.-361
. . . . . . g.5161
gagcgctggctgcgcttaggcaacggtgcggcaggcgccggggttttctgaaacagaaac c.-301
. . . . . . g.5221
gtttaggggtggggaaacgtgttccgaggaactctcgttttgaagtgcgacatacacctg c.-241
. . . . . . g.5281
tcttgccctgttccaagatggtggcagagcttctctgagtctctcgcttcctccagtccg c.-181
. . . . . . g.5341
tcggagaagcgctctttgattggccagtggacagcgccgtggcatgacgcgctggggcgc c.-121
. . . . . . g.5401
tggccaatcggttgagagctgagctggacttggcggtgggagccggagcctgcttgttgc c.-61
. . . . . | 02 . g.8292
agctgtgggtgaggacggctctagctaggtgagcggctccggccag | ttcccttttagact c.-1
. . . . . . g.8352
ATGGCGACATACCTGGAGTTCATCCAGCAGAATGAAGAACGGGATGGTGTGCGTTTTAGT c.60
M A T Y L E F I Q Q N E E R D G V R F S p.20
. . . . . . g.8412
TGGAACGTGTGGCCTTCCAGCCGGCTGGAGGCTACAAGAATGGTTGTACCCCTGGCTTGT c.120
W N V W P S S R L E A T R M V V P L A C p.40
. . . . . . g.8472
CTCCTTACTCCTTTGAAAGAACGTCCAGACCTACCTCCTGTACAATATGAACCTGTGCTT c.180
L L T P L K E R P D L P P V Q Y E P V L p.60
. . . . | 03 . . g.9700
TGCAGCAGGCCAACTTGTAAAGCTGTTCTCAACCCACTTTG | TCAGGTTGATTATCGAGCA c.240
C S R P T C K A V L N P L C | Q V D Y R A p.80
. . . | 04 . . g.13127
AAACTTTGGGCCTGTAATTTCTGTTTTCAAAGAAATCAG | TTTCCTCCAGCTTATGGAGGC c.300
K L W A C N F C F Q R N Q | F P P A Y G G p.100
. . . . . . g.13187
ATATCTGAGGTGAATCAACCTGCCGAATTGATGCCCCAGTTTTCTACAATTGAGTACGTG c.360
I S E V N Q P A E L M P Q F S T I E Y V p.120
| 05 . . . . . . g.21943
ATACAG | CGAGGTGCTCAGTCCCCTCTGATCTTTCTCTATGTGGTTGACACATGCCTGGAG c.420
I Q | R G A Q S P L I F L Y V V D T C L E p.140
. . . . . . g.22003
GAAGATGACCTTCAAGCACTCAAAGAGTCCCTGCAGATGTCCCTGAGTCTTCTTCCTCCA c.480
E D D L Q A L K E S L Q M S L S L L P P p.160
. . . . . . g.22063
GATGCTCTGGTGGGTCTGATCACATTTGGAAGGATGGTGCAGGTTCATGAGCTAAGCTGT c.540
D A L V G L I T F G R M V Q V H E L S C p.180
. . . . . . g.22123
GAAGGAATCTCCAAAAGTTATGTCTTCCGAGGGACCAAGGATTTAACTGCAAAGCAAATA c.600
E G I S K S Y V F R G T K D L T A K Q I p.200
| 06 . . . . . . g.22448
CAG | GATATGTTGGGCCTGACCAAGCCAGCCATGCCCATGCAGCAAGCACGACCTGCACAA c.660
Q | D M L G L T K P A M P M Q Q A R P A Q p.220
. . | 07 . . . g.23275
CCACAGGAGCACCCTTTTGCTTCAAGCAG | ATTTCTGCAGCCTGTTCACAAGATTGATATG c.720
P Q E H P F A S S R | F L Q P V H K I D M p.240
. . . . . . g.23335
AACCTCACTGATCTTCTTGGGGAGCTACAGAGGGACCCATGGCCAGTAACTCAGGGGAAG c.780
N L T D L L G E L Q R D P W P V T Q G K p.260
. . . . . | 08 . g.23835
AGACCTTTGCGATCCACTGGTGTGGCTTTGTCCATTGCTGTTGGCTTGCTGGAG | GGCACT c.840
R P L R S T G V A L S I A V G L L E | G T p.280
. . . . . . g.23895
TTTCCAAACACAGGAGCCAGGATCATGCTGTTTACTGGAGGTCCCCCTACCCAAGGGCCT c.900
F P N T G A R I M L F T G G P P T Q G P p.300
. . . . . . g.23955
GGCATGGTGGTTGGAGATGAATTAAAGATTCCTATTCGTTCTTGGCATGATATTGAGAAA c.960
G M V V G D E L K I P I R S W H D I E K p.320
. . . | 09 . . . g.24979
GATAATGCACGATTCATGAAAAAGGCAACCAAG | CACTATGAGATGCTTGCTAATCGAACA c.1020
D N A R F M K K A T K | H Y E M L A N R T p.340
. . . . . . g.25039
GCTGCAAATGGTCACTGCATTGATATTTATGCTTGTGCCCTTGATCAAACTGGACTTTTG c.1080
A A N G H C I D I Y A C A L D Q T G L L p.360
. . | 10 . . . g.28167
GAGATGAAGTGTTGTGCAAATCTTACTGG | AGGCTACATGGTAATGGGAGATTCTTTCAAC c.1140
E M K C C A N L T G | G Y M V M G D S F N p.380
. . . . . . g.28227
ACTTCTCTCTTCAAGCAGACATTCCAAAGAATCTTTACTAAAGATTTTAATGGAGATTTC c.1200
T S L F K Q T F Q R I F T K D F N G D F p.400
. . . | 11 . . . g.30147
CGAATGGCATTTGGTGCTACTTTGGACGTAAAG | ACCTCTCGGGAACTGAAGATTGCAGGA c.1260
R M A F G A T L D V K | T S R E L K I A G p.420
. . . . . | 12 . g.33115
GCCATTGGTCCATGCGTATCTCTGAATGTGAAAGGACCGTGTGTGTCAGAAAAT | GAGCTT c.1320
A I G P C V S L N V K G P C V S E N | E L p.440
. . . . . . g.33175
GGTGTTGGTGGCACGAGTCAGTGGAAAATCTGTGGCCTAGATCCTACATCTACACTTGGC c.1380
G V G G T S Q W K I C G L D P T S T L G p.460
. . | 13 . . . . g.39788
ATCTATTTTGAAGTTGTCAATCAG | CACAACACCCCGATCCCCCAAGGAGGCAGAGGAGCC c.1440
I Y F E V V N Q | H N T P I P Q G G R G A p.480
. . . . . . g.39848
ATCCAGTTTGTCACGCATTATCAGCACTCCAGCACCCAGAGACGCATCCGCGTGACCACC c.1500
I Q F V T H Y Q H S S T Q R R I R V T T p.500
. | 14 . . . . . g.40524
ATCGCCCGAAA | TTGGGCAGATGTACAGAGTCAGCTCAGGCACATAGAAGCAGCATTTGAC c.1560
I A R N | W A D V Q S Q L R H I E A A F D p.520
. . . . . . g.40584
CAGGAGGCTGCGGCAGTGTTGATGGCACGGCTTGGGGTGTTCCGAGCGGAGTCAGAGGAG c.1620
Q E A A A V L M A R L G V F R A E S E E p.540
. . . . | 15 . . g.43427
GGGCCCGATGTGCTCCGGTGGCTGGACCGACAACTCATCCGACTG | TGTCAAAAGTTTGGA c.1680
G P D V L R W L D R Q L I R L | C Q K F G p.560
. . . . . . g.43487
CAGTATAACAAAGAAGACCCCACTTCTTTTAGGTTATCAGATTCCTTTTCTCTATATCCT c.1740
Q Y N K E D P T S F R L S D S F S L Y P p.580
| 16 . . . . . . g.46122
CAG | TTTATGTTCCATCTGAGAAGATCTCCATTTCTTCAAGTGTTTAACAACAGTCCTGAT c.1800
Q | F M F H L R R S P F L Q V F N N S P D p.600
. . . . . . g.46182
GAGTCGTCATATTACAGACATCATTTTGCCCGGCAGGACCTGACCCAGTCCCTCATCATG c.1860
E S S Y Y R H H F A R Q D L T Q S L I M p.620
. . . . | 17 . . g.48560
ATCCAGCCCATTCTCTACTCTTACTCCTTTCATGGGCCACCAGAG | CCAGTACTCTTGGAT c.1920
I Q P I L Y S Y S F H G P P E | P V L L D p.640
. . . . . . g.48620
AGCAGCAGCATTCTAGCTGACAGAATTTTGCTGATGGATACTTTCTTTCAAATTGTCATT c.1980
S S S I L A D R I L L M D T F F Q I V I p.660
. | 18 . . . . . g.51739
TATCTTGGTGAG | ACCATAGCCCAGTGGCGTAAAGCTGGCTACCAGGACATGCCCGAGTAT c.2040
Y L G E | T I A Q W R K A G Y Q D M P E Y p.680
. . . . . . g.51799
GAAAACTTCAAGCACCTTCTGCAGGCACCACTGGATGATGCTCAAGAAATTCTGCAAGCA c.2100
E N F K H L L Q A P L D D A Q E I L Q A p.700
. . . . | 19 . g.52576
CGCTTCCCGATGCCACGTTACATCAACACGGAGCATGGAGGCAGTCAG | GCTCGATTCCTT c.2160
R F P M P R Y I N T E H G G S Q | A R F L p.720
. . . . . | 20 . g.58113
TTGTCCAAAGTGAACCCATCTCAGACACACAATAACCTGTATGCTTGGGGACAG | GAAACT c.2220
L S K V N P S Q T H N N L Y A W G Q | E T p.740
. . . . . . g.58173
GGAGCACCCATCCTAACTGATGATGTTAGCCTGCAGGTGTTCATGGACCATTTGAAGAAG c.2280
G A P I L T D D V S L Q V F M D H L K K p.760
. . g.58197
CTGGCTGTCTCCAGTGCCTGTTAA c.2304
L A V S S A C X p.767
. . . . . . g.58257
gctgaggatacaaccaggaaatgcaacggtgtcagattgtgttcaaaatgtctagaaagg c.*60
. . . . . . g.58317
cttgataacattcctgttacttttctagcagattttaacaaataatcaaggacattttat c.*120
. . . . . . g.58377
atgtaactctttagattataatttatttgtattcctgtctttgtcctttttcttgcacta c.*180
. . . . . . g.58437
taaaattataaggtcataaatgttttggtacttgtagatgtttatgtgctttttgtatcc c.*240
. . . . . . g.58497
taacttttagaatctaaataaaatcagaggtaatgtattttggcagcttgtttaggtgag c.*300
. . . . . . g.58557
aatcttaatgatcataaaggaaataaatctagatgcagaaagtactggctaaaatattgc c.*360
. . . . . . g.58617
taatacaaatgtgatttcctgaggtctctgtgtgagtgtgtatgtgttttaagtgacttc c.*420
. . . . . . g.58677
cttaagaggtgtttcctgaacctaattctcataattaaagtaatgtatatgcaggatcaa c.*480
. . . . . . g.58737
aatgaaacaaatataccttatcctaaagagctcataacaaataagttacctccactctat c.*540
. . . . . . g.58797
aaactcagacctactttttgaagataactgcttttaacctctccttacaagatttttgtt c.*600
. . . . . . g.58857
gttgatgtatttaattttagcccatgtctcaattctcattttcaaagaatcaatatatta c.*660
g.58863
atatac c.*666
(downstream sequence)
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