(used for variant description)
(last modified April 7, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_007214.4 in the SEC63 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008270.1, covering SEC63 transcript NM_007214.4.
(upstream sequence)
. . g.5029
acgtctcccttagcgagctcgctggggac c.-241
. . . . . . g.5089
acgcagggggagggaaaactgagcggggcgggaactatctcctctcgcgagagctggcga c.-181
. . . . . . g.5149
cggcggcggcagcggcagaggtggcggcggcgtgtccgtgagagtggcgtgggggcgggg c.-121
. . . . . . g.5209
aggagaggcggcggcggcagtgtccaagctacgccactcgggccggggcgttgggagcgg c.-61
. . . . . . g.5269
gagtgcagagcgtggtcgtggcggcggcggtgagaagagcgaggcggaggagggggtgcc c.-1
. . . . . . g.5329
ATGGCCGGGCAGCAGTTCCAGTACGATGACAGTGGGAACACCTTCTTCTACTTCCTCACC c.60
M A G Q Q F Q Y D D S G N T F F Y F L T p.20
. . . . . . g.5389
TCCTTCGTGGGGCTCATCGTGATCCCGGCGACATACTACCTCTGGCCCCGAGATCAGAAT c.120
S F V G L I V I P A T Y Y L W P R D Q N p.40
| 02 . . . . . . g.33820
GCCG | AGCAAATTCGATTAAAGAATATCAGAAAAGTATATGGAAGGTGTATGTGGTATCGT c.180
A E | Q I R L K N I R K V Y G R C M W Y R p.60
. . . . | 03 . . g.38362
TTACGGTTATTAAAACCCCAGCCAAATATTATTCCTACAGTAAA | GAAAATAGTTCTGCTT c.240
L R L L K P Q P N I I P T V K | K I V L L p.80
. . . . . . g.38422
GCAGGATGGGCATTGTTCTTATTCCTTGCATATAAAGTTTCCAAAACAGACCGAGAATAC c.300
A G W A L F L F L A Y K V S K T D R E Y p.100
. . . | 04 . . g.41390
CAAGAATACAATCCTTATGAAGTATTAAATTTGGATCCT | GGAGCCACAGTAGCAGAAATT c.360
Q E Y N P Y E V L N L D P | G A T V A E I p.120
. . . . . . g.41450
AAAAAACAATATCGTTTGCTGTCACTTAAATATCATCCAGATAAAGGAGGTGATGAGGTT c.420
K K Q Y R L L S L K Y H P D K G G D E V p.140
. . . | 05 . . . g.49879
ATGTTCATGAGGATAGCAAAAGCTTATGCTGC | TTTAACGGATGAAGAGTCCCGGAAAAAT c.480
M F M R I A K A Y A A | L T D E E S R K N p.160
. . . | 06 . . . g.50530
TGGGAAGAATTTGGAAATCCAGATGGGCCTCAAG | CCACAAGCTTTGGAATTGCCCTGCCA c.540
W E E F G N P D G P Q A | T S F G I A L P p.180
. . . | 07 . . . g.51909
GCTTGGATAGTTGACCAGAAAAACTCAATTCTG | GTTTTACTTGTATATGGATTGGCATTT c.600
A W I V D Q K N S I L | V L L V Y G L A F p.200
. . | 08 . . . . g.54279
ATGGTTATCCTTCCAGTTGTTGTG | GGCTCTTGGTGGTATCGCTCAATACGCTATAGTGGA c.660
M V I L P V V V | G S W W Y R S I R Y S G p.220
. . . . . . g.54339
GACCAGATTCTAATACGCACAACACAGATTTATACATACTTTGTTTATAAAACCCGAAAT c.720
D Q I L I R T T Q I Y T Y F V Y K T R N p.240
. | 09 . . . . . g.56548
ATGGATATGAAAC | GTCTTATCATGGTTTTGGCTGGAGCTTCTGAATTTGATCCTCAGTAT c.780
M D M K R | L I M V L A G A S E F D P Q Y p.260
. . . . | 10 . g.56710
AATAAAGATGCCACAAGCAGACCAACGGATAATATTCTAATACCACAG | CTAATCAGAGAA c.840
N K D A T S R P T D N I L I P Q | L I R E p.280
. . . . . . g.56770
ATTGGCAGCATTAATTTAAAGAAGAATGAGCCTCCACTTACCTGCCCATATAGCCTGAAG c.900
I G S I N L K K N E P P L T C P Y S L K p.300
. . . . . . g.56830
GCCAGAGTTCTTTTACTGTCTCATCTTGCTAGAATGAAAATTCCTGAGACCCTTGAAGAA c.960
A R V L L L S H L A R M K I P E T L E E p.320
| 11 . . . . . . g.58616
G | ATCAGCAATTCATGCTAAAAAAGTGTCCTGCCCTACTTCAAGAAATGGTTAATGTAATC c.1020
D | Q Q F M L K K C P A L L Q E M V N V I p.340
. . . | 12 . . . g.60306
TGCCAACTAATAGTAATGGCCCGGAACCGTGAAG | AAAGGGAGTTTCGTGCTCCAACTTTG c.1080
C Q L I V M A R N R E E | R E F R A P T L p.360
. . . . . . g.60366
GCATCCCTAGAAAACTGCATGAAGCTTTCTCAGATGGCCGTTCAGGGACTTCAGCAATTT c.1140
A S L E N C M K L S Q M A V Q G L Q Q F p.380
. . . . . . g.60426
AAGTCTCCCCTTCTGCAGCTCCCTCATATTGAAGAGGACAATCTTAGACGGGTTTCTAAT c.1200
K S P L L Q L P H I E E D N L R R V S N p.400
| 13 . . . . . g.61812
CATAAGAAG | TATAAAATTAAAACTATCCAGGATTTGGTGAGTTTAAAAGAATCAGATCGT c.1260
H K K | Y K I K T I Q D L V S L K E S D R p.420
. . . . . . g.61872
CACACTCTACTGCACTTCCTTGAAGATGAAAAATATGAAGAGGTTATGGCTGTCCTTGGG c.1320
H T L L H F L E D E K Y E E V M A V L G p.440
. . . | 14. . . g.65570
AGTTTTCCATATGTGACCATGGATATAAAATCACAGG | TGTTAGATGATGAAGATAGCAAC c.1380
S F P Y V T M D I K S Q V | L D D E D S N p.460
. . . . . . g.65630
AACATCACAGTAGGATCCTTAGTTACAGTGTTGGTTAAGTTGACAAGGCAAACAATGGCT c.1440
N I T V G S L V T V L V K L T R Q T M A p.480
| 15 . . . . . . g.69441
| GAAGTATTTGAAAAGGAGCAGTCCATCTGTGCTGCAGAGGAACAGCCAGCAGAAGATGGG c.1500
| E V F E K E Q S I C A A E E Q P A E D G p.500
| 16 . . . . . . g.69683
| CAGGGTGAAACTAACAAGAACAGGACAAAAGGAGGATGGCAACAGAAGAGTAAAGGACCC c.1560
| Q G E T N K N R T K G G W Q Q K S K G P p.520
. . . . . . g.69743
AAGAAAACTGCTAAATCAAAAAAAAAGAAACCTTTAAAAAAAAAACCTACACCTGTGCTA c.1620
K K T A K S K K K K P L K K K P T P V L p.540
. . . . . | 17 . g.80138
TTACCACAGTCAAAGCAACAGAAACAAAAGCAGGCAAATGGAGTCGTTGGGAAT | GAAGCT c.1680
L P Q S K Q Q K Q K Q A N G V V G N | E A p.560
. . . . . . g.80198
GCAGTAAAGGAAGATGAAGAAGAAGTTTCAGATAAGGGCAGTGATTCTGAAGAAGAAGAA c.1740
A V K E D E E E V S D K G S D S E E E E p.580
. . . . . . g.80258
ACCAATAGAGATTCCCAAAGTGAGAAAGATGATGGTAGTGACAGAGACTCTGATAGAGAG c.1800
T N R D S Q S E K D D G S D R D S D R E p.600
. . . | 18 . . . g.82055
CAAGATGAAAAACAAAACAAAGATGATGAAGCA | GAGTGGCAAGAATTACAACAAAGCATA c.1860
Q D E K Q N K D D E A | E W Q E L Q Q S I p.620
. . . . . . g.82115
CAGCGAAAAGAGAGAGCTCTATTGGAAACCAAATCAAAAATAACACATCCTGTGTATAGC c.1920
Q R K E R A L L E T K S K I T H P V Y S p.640
. | 19 . . . . . g.86661
CTTTACTTTCCTGAG | GAAAAACAAGAATGGTGGTGGCTTTACATTGCAGATAGGAAGGAG c.1980
L Y F P E | E K Q E W W W L Y I A D R K E p.660
. . . . . | 20 . g.90372
CAGACATTAATATCCATGCCATATCATGTGTGTACGCTGAAAGATACAGAGGAG | GTAGAG c.2040
Q T L I S M P Y H V C T L K D T E E | V E p.680
. . . . . . g.90432
CTGAAGTTTCCTGCACCAGGCAAGCCTGGAAATTATCAGTATACTGTGTTTCTGAGATCA c.2100
L K F P A P G K P G N Y Q Y T V F L R S p.700
. . . | 21 . . g.91452
GACTCCTATATGGGTTTGGATCAGATTAAACCATTGAAG | TTGGAAGTTCATGAGGCTAAG c.2160
D S Y M G L D Q I K P L K | L E V H E A K p.720
. . . . . . g.91512
CCTGTGCCAGAAAATCACCCACAGTGGGATACAGCAATAGAGGGGGATGAAGACCAGGAG c.2220
P V P E N H P Q W D T A I E G D E D Q E p.740
. . . . . . g.91572
GACAGTGAGGGCTTTGAAGATAGCTTTGAGGAAGAAGAGGAGGAAGAAGAAGATGATGAC c.2280
D S E G F E D S F E E E E E E E E D D D p.760
g.91575
TAA c.2283
X p.760
. . . . . . g.91635
gcagtactctgaatggaccacagtgtttgcacatatttgcaattttttgctgttttggaa c.*60
. . . . . . g.91695
gtgtatcataaaccagaaacagtacagaactgatgttgagggaggtgtagtttttttact c.*120
. . . . . . g.91755
cttgaaatgggtgcataatataactaggcagtggcggtgccttggtacaacctgaaaaat c.*180
. . . . . . g.91815
gttaaggcttattgaaacctttcaagtaggggatggtacatttatttcatctgcaaatga c.*240
. . . . . . g.91875
taataaatcctttgttattataactgtccagaagtgtgggctatgtattatctgatcagt c.*300
. . . . . . g.91935
ctatggtcccagtaaaagtaaagatgcaggaaacacagtctgtaaatgagcgacttttct c.*360
. . . . . . g.91995
ttgttcagctttagttttagcaaacaccacaaatatgttttaagtaacatcgctcaagtt c.*420
. . . . . . g.92055
taagtaacatcgctcaagttgataatctcttgataagctctgttgttgacattttgcagt c.*480
. . . . . . g.92115
gatacaacagctccactcatagatttaaacttttatttttacttatcttggtcataagtt c.*540
. . . . . . g.92175
ggcattctctcacattccacatgatatagagggctacgttttggaattttccttttctta c.*600
. . . . . . g.92235
attgcccagagttatcagacagattataaaaatggcttttaatggcttaaaccatttcta c.*660
. . . . . . g.92295
aacctctatcttagcagatcaatgcaggatctaattcttttgataagttctagctctaaa c.*720
. . . . . . g.92355
agtgatagtgggactgtatgttttctgatactggtggcttatgttattaaacctttttta c.*780
. . . . . . g.92415
aaaaaggttcactctaaaagctgaactacatccttagttttcagtctacttgactctatc c.*840
. . . . . . g.92475
aggagctttttaaggaaagtaagtataacatgcaaaggaagctttttttgtattcatttt c.*900
. . . . . . g.92535
ggactcctgtcaataaaaatagaagtttgttgactcgttttatgtttcaatggtgtgtgt c.*960
. . . . . . g.92595
ctttttactatcaggacataaatagggcaatccacttctttatttttcaactaaagattg c.*1020
. . . . . . g.92655
aatagtattgtacattactgctaaagtgactgctatttctgtatactgtagaaaaaccca c.*1080
. . . . . . g.92715
ggagtgagagggatttcccctcatagtacaactggaaggatagtgcttgtaaagagtaga c.*1140
. . . . . . g.92775
gatgtgtacatgatgaatcattgagggagggtggatatttttattcctagatatggagga c.*1200
. . . . . . g.92835
aacataagtctgtagtattataaaactgattgtaataattctttcctatcaaaatctcca c.*1260
. . . . . . g.92895
taggtcaaaatattgttggaatactaaaatttgcaaccttgtttactttaaaaggttgcc c.*1320
. . . . . . g.92955
actttcagtgcagaatactaccggcatcttgttactgcaatagttggaaataaaatgtga c.*1380
. . . . . . g.93015
aaattagcaaaaccatgaatggtttttttggttctaaatttaagatgtaatatttcctat c.*1440
. . . . . . g.93075
aaaagggtgaaagcagtttctttctctataacctcaatcaccagtttagtgagagccttt c.*1500
. . . . . . g.93135
cttggcaggcaggaggcagtgtcactgaggatttttttcatttacttcattgtacaagta c.*1560
. . . . . . g.93195
ggagggtgggtttaattttcaaatcaggttctgctgtgaagcaccagtgtcttgaggcag c.*1620
. . . . . . g.93255
ctactgattacctaagtgtggtggcagggggtaagccagctggtgtcaagtgaaaggagg c.*1680
. . . . . . g.93315
gattagagaaaacaggtgtggcacgaaggcaaggaaactgagcagacaagacagaacaat c.*1740
. . . . . . g.93375
gtgtagaatgcatatttcctagttttcttgaaagatttcaagaaaagttgtttttttttt c.*1800
. . . . . . g.93435
tctagtggctactttgccttaaagaggctttataagttcattcacacagctggcttctct c.*1860
. . . . . . g.93495
ggttttaagattctggagaggatgataacctagtaacaccacagtgcttaaaaaaaaaaa c.*1920
. . . . . . g.93555
aaaaaaaaaaactaccatcaccagaaaattccaccagtttgttttccttttctctttgtg c.*1980
. . . . . . g.93615
tgatgtgtatgtacttcccaactaagtaaaataaaatttcctctagtgagtgctttaggt c.*2040
. . . . . . g.93675
aacctctttccatatggcagtagtgaaagaactgagccttcagttgatagttcttctctc c.*2100
. . . . . . g.93735
tccagcaagtcgctaaactccacatcccttcgtttttcctctggaatgagaataacaaac c.*2160
. . . . . . g.93795
tatcctagtttgcatttaatctaatggaaacttgagcaaagtttcaattttcttcctata c.*2220
. . . . . . g.93855
aagaaactgacattttgtcaacaattgatgagcctatagatcatacagtgtataggaagt c.*2280
. . . . . . g.93915
gaaattgaaacagttaaattatgtgatatttttctctaattggtaaagtacctattaaaa c.*2340
. . . . . . g.93975
tacagctgttcatgaggagacttaccacaattcaaagtgtagcagttgtgtattttagca c.*2400
. . . . . . g.94035
ttataatatttgattgaggccctgaggtgttaatatctcaatctcagagttagatgttca c.*2460
. . . . . . g.94095
tgtcctttttgaattttttaaacatttttcataattttttttttaagttagggagcacat c.*2520
. . . . . . g.94155
tgagtgaagttctctgtgtagaacaataccttctgctctgcttctcccagctttcactga c.*2580
. . . . . . g.94215
gggctggaaaaggacaggcctgtccagctgtactgtcccactgtgtatggggaagctcag c.*2640
. . . . . . g.94275
gctctggtggaagcagggggcgtggatgtcaaacaactgatgtggaaacagggagggaga c.*2700
. . . . . . g.94335
gatataatgaggctctctaggcatgttatttttgaccacaagttttgttcagtttgcttc c.*2760
. . . . . . g.94395
agccaatccaaaccatatactagagtgttctgtagtcacaattcttatttcaaatgtaat c.*2820
. . . . . . g.94455
tcagcaccttacataatttttgagaggttgtcattcatcacatatttactgagtttctat c.*2880
. . . . . . g.94515
gtgccaggctctgtgactggatactggagctatcaaaatgaaaaaaatagtgttaagaac c.*2940
. . . . . . g.94575
tcactcgctggtgttagagcaggtagatgagtggcaatccatttaaatccatttgccttg c.*3000
. . . . . . g.94635
gctattatttggaatgcctttttttttttttagtctatctactgtaggcagaagaattat c.*3060
. . . . . . g.94695
ttctttaggggctagctgtttattttgctggcctttttttctctctttctctttttcttc c.*3120
. . . . . . g.94755
ttaagacggagtctcgctctgtcctccaggctggaggagtgcagtggcacgatctcagct c.*3180
. . . . . . g.94815
cactgcaacctccgcctcccagcttcaagcgattcttctgcctcagcctcctgagtagct c.*3240
. . . . . . g.94875
gggactgcaggtgcatgccaccacacccagctaattttttaatttttagtagagatggga c.*3300
. . . . . . g.94935
ttttgccacgttgtccagcctggtctcgaactcctggcctcaagtgatcagccctcctca c.*3360
. . . . . . g.94995
gcctcccaaagtgctggcattacaggcatgagccactgcgcccagcctgttgggtttttt c.*3420
. . . . . . g.95055
tggaaaaaaaacaaaaacaacaaatcatcatcctttcctttaaaatgttttttttttttt c.*3480
. . . . . . g.95115
aagaaacaattttcccacaaacggtctgatttaactccatgaaatcctctatttagactg c.*3540
. . . . . . g.95175
ccttaaagtgaaataactgttggtgaaccataacattttgccagctgtgtagtgattagt c.*3600
. . . . . . g.95235
ccaaatatgtctcaagaagttagcaccaagcattctcatccatttaaacttgatgctagg c.*3660
. . . . . . g.95295
gctattttgcaaaacttaaaaagatgcgatcttgtacatatttctgtaacctgagctgaa c.*3720
. . . . . . g.95355
aacccaaataacaatcattgacatactttagggctattgtttcaggtgggggtgtataca c.*3780
. . . . . . g.95415
tcccaggggcgtggagatgatcaatccattgaggaagtattaagatgattatttgtattt c.*3840
. . . . . . g.95475
aatctcatccttttaaatttctatttttgtgtgttttataatgtacataatatattgtac c.*3900
. . . . g.95523
aattgtacacttctattatttataaataaacatttattggtgcattaa c.*3948
(downstream sequence)
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