(used for variant description)
(last modified December 31, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_007348.3 in the ATF6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029773.1, covering ATF6 transcript NM_007348.3.
(upstream sequence)
. . . . . g.5057
aaaagtagtttgtctttactaggccaccgtctcgtcagcgttacggagtattttgtc c.-61
. . . . . . g.5117
cgcctgccgccgccgtcccagatattaatcacggagttccagggagaaggaacttgtgaa c.-1
. . . . . . g.5177
ATGGGGGAGCCGGCTGGGGTTGCCGGCACCATGGAGTCACCTTTTAGCCCGGGACTCTTT c.60
M G E P A G V A G T M E S P F S P G L F p.20
. . | 02 . . . . g.17038
CACAGGCTGGATGAAGATTGGG | ATTCTGCTCTCTTTGCTGAACTCGGTTATTTCACAGAC c.120
H R L D E D W D | S A L F A E L G Y F T D p.40
. . . | 03 . . g.20689
ACTGATGAGCTGCAATTGGAAGCAGCAAATGAGACGTAT | GAAAACAATTTTGATAATCTT c.180
T D E L Q L E A A N E T Y | E N N F D N L p.60
. . . . . . g.20749
GATTTTGATTTGGATTTGATGCCTTGGGAGTCAGACATTTGGGACATCAACAACCAAATC c.240
D F D L D L M P W E S D I W D I N N Q I p.80
| 04. . . . . . g.22799
TGTACAG | TTAAAGATATTAAGGCAGAACCTCAGCCACTTTCTCCAGCCTCCTCAAGTTAT c.300
C T V | K D I K A E P Q P L S P A S S S Y p.100
. . . . . | 05 . g.30170
TCAGTCTCGTCTCCTCGGTCAGTGGACTCTTATTCTTCAACTCAGCATGTTCCT | GAGGAG c.360
S V S S P R S V D S Y S S T Q H V P | E E p.120
. . . . . . g.30230
TTGGATTTGTCTTCTAGTTCTCAGATGTCTCCCCTTTCCTTATATGGTGAAAACTCTAAT c.420
L D L S S S S Q M S P L S L Y G E N S N p.140
. . . . . . g.30290
AGTCTCTCTTCAGCGGAGCCACTGAAGGAAGATAAGCCTGTCACTGGTCCTAGGAACAAG c.480
S L S S A E P L K E D K P V T G P R N K p.160
| 06 . . . . . . g.30936
ACTG | AAAATGGACTGACTCCAAAGAAAAAAATTCAGGTGAATTCAAAACCTTCAATTCAG c.540
T E | N G L T P K K K I Q V N S K P S I Q p.180
. . . . . . g.30996
CCCAAGCCTTTATTGCTTCCAGCAGCACCCAAGACTCAAACAAACTCCAGTGTTCCAGCA c.600
P K P L L L P A A P K T Q T N S S V P A p.200
. . . . . . g.31056
AAAACCATCATTATTCAGACAGTACCAACGCTTATGCCATTGGCAAAGCAGCAACCAATT c.660
K T I I I Q T V P T L M P L A K Q Q P I p.220
. . | 07 . . . g.40840
ATCAGTTTACAACCTGCACCCACTAAAG | GCCAGACGGTTTTGCTGTCTCAGCCTACTGTG c.720
I S L Q P A P T K G | Q T V L L S Q P T V p.240
. . . . . . g.40900
GTACAACTTCAAGCACCTGGAGTTCTGCCCTCTGCTCAGCCAGTCCTTGCTGTTGCTGGG c.780
V Q L Q A P G V L P S A Q P V L A V A G p.260
. . . . . . g.40960
GGAGTCACACAGCTCCCTAATCACGTGGTGAATGTGGTACCAGCCCCTTCAGCGAATAGC c.840
G V T Q L P N H V V N V V P A P S A N S p.280
. . . . . . g.41020
CCAGTGAATGGAAAACTTTCCGTGACTAAACCTGTCCTACAAAGTACCATGAGAAATGTC c.900
P V N G K L S V T K P V L Q S T M R N V p.300
| 08 . . . . . g.58440
GGTTCAGAT | ATTGCTGTGCTAAGGAGACAGCAACGTATGATAAAAAATCGAGAATCCGCT c.960
G S D | I A V L R R Q Q R M I K N R E S A p.320
. . . . . . g.58500
TGTCAGTCTCGCAAGAAGAAGAAAGAATATATGCTAGGGTTAGAGGCGAGATTAAAGGCT c.1020
C Q S R K K K K E Y M L G L E A R L K A p.340
. . . . . . g.58560
GCCCTCTCAGAAAACGAGCAACTGAAGAAAGAAAATGGAACACTGAAGCGGCAGCTGGAT c.1080
A L S E N E Q L K K E N G T L K R Q L D p.360
. | 09 . . . . . g.59871
GAAGTTGTGTCAGAG | AACCAGAGGCTTAAAGTCCCTAGTCCAAAGCGAAGAGTTGTCTGT c.1140
E V V S E | N Q R L K V P S P K R R V V C p.380
. . . . | 10. . g.85218
GTGATGATAGTATTGGCATTTATAATACTGAACTATGGACCTATGAG | CATGTTGGAACAG c.1200
V M I V L A F I I L N Y G P M S | M L E Q p.400
. . . . . . g.85278
GATTCCAGGAGAATGAACCCTAGTGTGAGCCCTGCAAATCAAAGGAGGCACCTTCTAGGA c.1260
D S R R M N P S V S P A N Q R R H L L G p.420
. . . . . | 11 g.90479
TTTTCTGCTAAAGAGGCACAGGACACATCAGATGGTATTATCCAGAAAAACAGCTACAG | A c.1320
F S A K E A Q D T S D G I I Q K N S Y R | p.440
. . . . . . g.90539
TATGATCATTCTGTTTCAAATGACAAAGCCCTGATGGTGCTAACTGAAGAACCATTGCTT c.1380
Y D H S V S N D K A L M V L T E E P L L p.460
. . . . . | 12 . g.91987
TACATTCCTCCACCTCCTTGTCAGCCCCTAATTAACACAACAGAGTCTCTCAG | GTTAAAT c.1440
Y I P P P P C Q P L I N T T E S L R | L N p.480
. . . . . . g.92047
CATGAACTTCGAGGATGGGTTCATAGACATGAAGTAGAAAGGACCAAGTCAAGAAGAATG c.1500
H E L R G W V H R H E V E R T K S R R M p.500
. . . | 13 . . . g.98990
ACAAATAATCAACAGAAAACCCGTATTCTTCAG | GGTGCTCTGGAACAGGGCTCAAATTCT c.1560
T N N Q Q K T R I L Q | G A L E Q G S N S p.520
. . . . | 14 . . g.101970
CAGCTGATGGCTGTTCAATACACAGAAACCACTAGTAGTATCAG | CAGGAACTCAGGGAGT c.1620
Q L M A V Q Y T E T T S S I S | R N S G S p.540
. . . . . . g.102030
GAGCTACAAGTGTATTATGCTTCACCCAGAAGTTATCAAGACTTTTTTGAAGCCATCCGC c.1680
E L Q V Y Y A S P R S Y Q D F F E A I R p.560
. . . | 15 . . g.151073
AGAAGGGGAGACACATTTTATGTTGTGTCATTTCGAAGG | GATCACCTGCTGTTACCAGCT c.1740
R R G D T F Y V V S F R R | D H L L L P A p.580
. . . . . . g.151133
ACCACCCATAACAAGACCACAAGACCAAAAATGTCAATTGTGTTACCAGCAATAAACATA c.1800
T T H N K T T R P K M S I V L P A I N I p.600
| 16 . . . . . . g.197258
AATG | AGAATGTGATCAATGGGCAGGACTACGAAGTGATGATGCAGATTGACTGTCAGGTG c.1860
N E | N V I N G Q D Y E V M M Q I D C Q V p.620
. . . . . . g.197318
ATGGACACCAGGATCCTCCATATCAAAAGTTCGTCAGTTCCTCCTTACCTCCGAGATCAG c.1920
M D T R I L H I K S S S V P P Y L R D Q p.640
. . . . . . g.197378
CAGAGGAATCAAACCAACACCTTCTTTGGCTCCCCTCCCGCAGCCACAGAGGCAACCCAC c.1980
Q R N Q T N T F F G S P P A A T E A T H p.660
. . . g.197411
GTTGTCAGCACCATCCCTGAGTCATTACAATAG c.2013
V V S T I P E S L Q X p.670
. . . . . . g.197471
caccctgcagctatgctggaaaactgagcgtgggaccctgccagactgaagagcaggtga c.*60
. . . . . . g.197531
gcaaaatgctgctttctgccttggtggcaggcagagaactgtctcgtactagaattcaag c.*120
. . . . . . g.197591
gaggaaagaagaagaaataaaagaagctgctccatttttcatcatctacccatctatttg c.*180
. . . . . . g.197651
gaaagcactggaattcagatgcaagagaacaatgtttcttcagtggcaaatgtagccctg c.*240
. . . . . . g.197711
catcctccagtgttacctggtgtagatttttttttctgtacctttctaaacctctcttcc c.*300
. . . . . . g.197771
ctctgtgatggttttgtgtttaaacagtcatcttcttttaaataatatccacctctcctt c.*360
. . . . . . g.197831
tttgccatttcacttattgattcataaagtgaattttatttaaagctatgccacacatgc c.*420
. . . . . . g.197891
atgttcaaatggtttccactgattcgatttttcattcatttaatgcaaacccattctgga c.*480
. . . . . . g.197951
tattgtgcttatttgagaaaacacatttcaaaaccagaaaagccaaaaacactccaaaaa c.*540
. . . . . . g.198011
caagcaaaacaatttggagctttagataaaaggaaaaactcccagttggtaaagtttatc c.*600
. . . . . . g.198071
tttacttaggatttgtggctcacacctaaacaaagggggtcagggagtgggtacaaattt c.*660
. . . . . . g.198131
gagaaaatagaagggtaagggaagggccagtggtggggtttggagagaggagatagctcc c.*720
. . . . . . g.198191
attaatacacatgtttaaaagatggaaagttcacgcctgtaatcccagcactttgggagg c.*780
. . . . . . g.198251
ccgaggcgggtggatcacgaggtcaggagatcaagaccatcccggctaaaacggtgaaac c.*840
. . . . . . g.198311
cccgtctctactaaaaatacaaaaaattagccgggcgtagtgacgggcgcctgtagtccc c.*900
. . . . . . g.198371
agctacttgggaggctgaggcaggagaatggcgtgaacccgggaggcggagcttgcagtg c.*960
. . . . . . g.198431
agccgagatcccgccactgcactccagcctgggcgacagagcgagactccgtctcaaaaa c.*1020
. . . . . . g.198491
aaaaaaaaaaaaaaaaaaaagatggaaagttcgatgtgactgcagtatgagattaaagcc c.*1080
. . . . . . g.198551
acaactattgtttattttggggactctaggccaccaagtattagcacacatacttatgtt c.*1140
. . . . . . g.198611
ttctctactaatctggtccaggtcctcatggaccacaggacaaagctttcattttcattc c.*1200
. . . . . . g.198671
attcttctattgaaattataccaaattcagctgaggaatatggaagtaactttagactta c.*1260
. . . . . . g.198731
aacaagacaaaagttttttcactgaagaattgacaagtatttgctccttaaaacaacgca c.*1320
. . . . . . g.198791
gattagtgaacgtggattcctgctgagggagtgcatcccataatatggcaataattttca c.*1380
. . . . . . g.198851
gtttctccaacgaaaagatagtgaaggaattaaatcttttgtcctcccatggttaaaaaa c.*1440
. . . . . . g.198911
aaaaaaaaagctgtgttcatttttactgtactatgcctcttttttcaccatagtagacaa c.*1500
. . . . . . g.198971
ttatgtttcatttgatgaattcatagaactggatctcatacagcgatgtcctctctaatg c.*1560
. . . . . . g.199031
ttctacctttcagtttctaaagtgagtcttcctccctctcctacaaaacttttcaatttt c.*1620
. . . . . . g.199091
ttgatgtaactcatctacaaatactgtttcttaccccagttgacttgcctttgtcagatt c.*1680
. . . . . . g.199151
tcttcttgttccacactatagcaatcaatttctcttcttccttacaagaaagggaacgag c.*1740
. . . . . . g.199211
aaattgtagcaacctctcaaggattatatgcagctagttagttttctgcctgtgaaatta c.*1800
. . . . . . g.199271
ggtctggctcctaaataattttaaagaaccatcagcacttctaactctctggacaggtgc c.*1860
. . . . . . g.199331
ctctttgtccaagctagttaaatgctttccaaggaaatcagttcaacttttgtgagcggg c.*1920
. . . . . . g.199391
gaaaagcagggctttattgttgtgttacctgggagtctggagtttgaaaagtgctaatta c.*1980
. . . . . . g.199451
accttcctctttttccacattacaaacctttttaagcagcgcagcactccccttagattt c.*2040
. . . . . . g.199511
ggctatcctgggtgattttcagacaagaaccattttctctggggaccattcttctgctgg c.*2100
. . . . . . g.199571
gtgccaaggaatataaggcaaatgcccagaagaccttcaggtgactgggcagtcttatca c.*2160
. . . . . . g.199631
tgggatatttcttctggccctgccccttcccattctgtaatgtgaattagccacaccaga c.*2220
. . . . . . g.199691
ggctgtgaccatggctagtagacagtggcaacatagtcatccccaagatgctaatcttct c.*2280
. . . . . . g.199751
gctggaactgtcatacgttatcatggtcaatgtaaacctggtttgtgtggggtgattata c.*2340
. . . . . . g.199811
aatagagtttccctcctctctgtgacagaatcacaggagaaggacccatctcgtggcctt c.*2400
. . . . . . g.199871
cttgttcttagcgcttcacttttacttcatccctcgattcccagctttttctatcatcat c.*2460
. . . . . . g.199931
tttgccaactcctcagatgcaagactttggttatgtcatactcaccaacgttagtccctc c.*2520
. . . . . . g.199991
tcttccaggtgaaaaggtgggtagcggttgggagggagtctccactgaagagcaggaagg c.*2580
. . . . . . g.200051
tggtagcagggccggcagctctgccacagagctaggggtgcctgtaaggtgccgcctaga c.*2640
. . . . . . g.200111
gcagcctgggagctttgccttcttttgtctctcactagcccttctactctttgtcattgc c.*2700
. . . . . . g.200171
ctgttcttgagtggatctttgaaatgaggggacaggattctcctaagggtagagtttcag c.*2760
. . . . . . g.200231
gaaatgagtgaaaggcaattgacaaatgcaaagaagtagtcactttttaaattgctggca c.*2820
. . . . . . g.200291
aagctataattaatccctaggcacaattgtagtttttattttaatgtttgtatgcacaag c.*2880
. . . . . . g.200351
gccctttaggaaatgagaagttgccatgccagattaatttttttttttttttttggtggg c.*2940
. . . . . . g.200411
attgccttttgggggttgcagccagaaattgtgggtaatgtgtgtatttttttatttatt c.*3000
. . . . . . g.200471
aaattttaaacaggattgtgcaagcttatgagacaattagataaactcatggaggaggca c.*3060
. . . . . . g.200531
ggtcctcctgttattagatgattttgtgctcttggggctgacaataatacactcttggga c.*3120
. . . . . . g.200591
agtgatggtagagactgatgggaatagtctttctgcctggttgcaagtcccaaattttta c.*3180
. . . . . . g.200651
agggttaatggaagtaagtggatgtttcctcatgttaactactgaatcagatgttaggag c.*3240
. . . . . . g.200711
cttgtccctttggggttgacttatgcccagcagtacagggacacagcttcattagagtgt c.*3300
. . . . . . g.200771
tagtgtaaactaactccaaagttaggagttaatgtgaaaggatcatccttgaaacaaatc c.*3360
. . . . . . g.200831
tgctgtttgccatgcttgtagtacagaaacttcacatggagttttgggtgggatttgtgt c.*3420
. . . . . . g.200891
tttcacaagtaaaaaatccctcacgattataaaactcagagcatcatctaattttttttt c.*3480
. . . . . . g.200951
ttaatgactacaagttccagcacaaaactggcatttctttgccatttcttgccagtaaga c.*3540
. . . . . . g.201011
agttgacacggaggtatttgaaagcaatgttatgtgagtcattcttaagtgttccaagta c.*3600
. . . . . . g.201071
agtttagaaacagaaaaggaacttgggattcaaattgatttttcaaatcatttttaaaga c.*3660
. . . . . . g.201131
gacatcatcctgactaaatcttagcctgaaccttcctcccctgtgtgtattccccggtag c.*3720
. . . . . . g.201191
tcaccgcagcgagatgctggtgagactgccgtggtggcatttagcatcgttaaaactgga c.*3780
. . . . . . g.201251
aaactctcaagctctttgccactttcctactattttttgattcttgccattttaccaagc c.*3840
. . . . . . g.201311
ttaggttgtgaaacttgacagaaatgtattacaggaaaaacttataattgtatttgactt c.*3900
. . . . . . g.201371
tctaacacattgcaaagtttcaaagtgactttcactttcaacaacatattagaagtaacc c.*3960
. . . . . . g.201431
acttttgctttcacagcctgaagagttagagcctgatctgatgccccctttcactctgaa c.*4020
. . . . . . g.201491
gtcatgggaaattttccagccatgaaagccctctttccactgcatactgatgggctgact c.*4080
. . . . . . g.201551
cagcttccttcagccgactgagatcttttcatactattggctatttcataccaattaacc c.*4140
. . . . . . g.201611
tcttaaataagattgtgaattgccaaaattgatagacacttattaccacctgtggactcc c.*4200
. . . . . . g.201671
atattccttaccacaaatgttattttcatcagtcctgagtcattttaacttacagaaatt c.*4260
. . . . . . g.201731
aggattgttgctgctaatatgaataccaattataacttttagaaacaagaataaagccta c.*4320
. . . . . . g.201791
aaagagaatgaaatataagaaatgttcgttcccacccctaataacatttggaagtgaata c.*4380
. . . . . . g.201851
ttcccattttcttccacccacagggattgggattgatttttaatttcctaggaaacaata c.*4440
. . . . . . g.201911
ctagactacccaaaaagatgttgccagaatccaaaaggaactatgctcgtaaaagaaatg c.*4500
. . . . . . g.201971
cagttttctcctacctaaaaaaaagaaagtaaagtgtgttctgttcttatctttttaatg c.*4560
. . . . . . g.202031
actaagctttaaacagtttattttgggtaagactagaactttcggccatttgttctaata c.*4620
. . . . . . g.202091
tgtgtgttattagatgcaatagaatttatgaaaagaagaatgacaaaggtatctgattag c.*4680
. . . . . . g.202151
aaaatttgatcttacgcatgaatccatgtcatggccagccactgtcacatagtgggtgcc c.*4740
. . . . . . g.202211
attctcaacatattggtttgctaactttaagcattagggatttagcacactaaaatactt c.*4800
. . . . . . g.202271
ttaattatattaggtttggtaactaaggagtaaataaatcataatttatcatttgccaag c.*4860
. . . . . . g.202331
gccaacaaacaacactattgtgctgtttgctctcaatgaagttgaataaaccaggaggct c.*4920
. . . . . . g.202391
tggcatatcccctttatgttaatcccagctagagattagtaggttgactttcacagcaat c.*4980
. . . . . . g.202451
tgtatattgatccattttaactcatccttgccataatttccaggccagtcaccaggacag c.*5040
. . . . . . g.202511
aggagatgatggggaaacagagctttagatgaaaactactatgcactactagccttagag c.*5100
. . . . . . g.202571
gcactggtttcctgttaccactttggcaagtatggatggtctaagtccagtagggcttca c.*5160
. . . . . . g.202631
tccatggagccattagaactgaggggggagtgttagagatgccatttcaccaggatcttt c.*5220
. . . . . . g.202691
ttgctcaggttgtacccatgccaattgaagaacgtgttaaagatgaggaggagagatgta c.*5280
. . . . . . g.202751
ccattctctcccttaataatgatgttggtttgcaaaacctaaagaaataataacaacaga c.*5340
. . . . . . g.202811
ctatttcatactttcaagcaagtctttatactacctgttatttctctaaaattcaaataa c.*5400
. g.202827
agaatttttaaactta c.*5416
(downstream sequence)
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