(used for variant description)
(last modified April 5, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_014413.3 in the EIF2AK1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering EIF2AK1 transcript NM_014413.3.
(upstream sequence)
. . g.5026
ccccagtgaaggtgcgcgcgtggcgg c.-121
. . . . . . g.5086
aggctggttttccgtctggtgaggggttacttccgggtcggacggcgctagctgcagcat c.-61
. . . . . . g.5146
cggagtgtggcagtgctgggctggccggcgggctgggctgcggcccgcgcgcggccggcg c.-1
. . . . . . g.5206
ATGCAGGGGGGCAACTCCGGGGTCCGCAAGCGCGAAGAGGAGGGCGACGGGGCTGGGGCT c.60
M Q G G N S G V R K R E E E G D G A G A p.20
. . . . . | 02 g.9527
GTGGCTGCGCCGCCGGCCATCGACTTTCCCGCCGAGGGCCCGGACCCCGAATATGACG | AA c.120
V A A P P A I D F P A E G P D P E Y D E | p.40
. . . . . . g.9587
TCTGATGTTCCAGCAGAAATCCAGGTGTTAAAAGAACCCCTACAACAGCCAACCTTCCCT c.180
S D V P A E I Q V L K E P L Q Q P T F P p.60
. . . . . . g.9647
TTTGCAGTTGCAAACCAACTCTTGCTGGTTTCTTTGCTGGAGCACTTGAGCCACGTGCAT c.240
F A V A N Q L L L V S L L E H L S H V H p.80
. . . | 03. . . g.14207
GAACCAAACCCACTTCGTTCAAGACAGGTGTTTAAGC | TACTTTGCCAGACGTTTATCAAA c.300
E P N P L R S R Q V F K L | L C Q T F I K p.100
. . . . . . g.14267
ATGGGGCTGCTGTCTTCTTTCACTTGTAGTGACGAGTTTAGCTCATTGAGACTACATCAC c.360
M G L L S S F T C S D E F S S L R L H H p.120
. . . . . | 04 . g.15394
AACAGAGCTATTACTCACTTAATGAGGTCTGCTAAAGAGAGAGTTCGTCAG | GATCCTTGT c.420
N R A I T H L M R S A K E R V R Q | D P C p.140
. . | 05 . . . g.17169
GAGGATATTTCTCGTATCCAGAAAATCAG | ATCAAGGGAAGTAGCCTTGGAAGCACAAACT c.480
E D I S R I Q K I R | S R E V A L E A Q T p.160
. . . . . . g.17229
TCACGTTACTTAAATGAATTTGAAGAACTTGCCATCTTAGGAAAAGGTGGATACGGAAGA c.540
S R Y L N E F E E L A I L G K G G Y G R p.180
| 06 . . . . . g.18129
GTATACAAG | GTCAGGAATAAATTAGATGGTCAGTATTATGCAATAAAAAAAATCCTGATT c.600
V Y K | V R N K L D G Q Y Y A I K K I L I p.200
. . . | 07 . . . g.19598
AAGGGTGCAACTAAAACAGTTTGCATGAAG | GTCCTACGGGAAGTGAAGGTGCTGGCAGGT c.660
K G A T K T V C M K | V L R E V K V L A G p.220
. . . . . . g.19658
CTTCAGCACCCCAATATTGTTGGCTATCACACCGCGTGGATAGAACATGTTCATGTGATT c.720
L Q H P N I V G Y H T A W I E H V H V I p.240
. | 08 . . . . . g.21286
CAGCCACGAG | CAGACAGAGCTGCCATTGAGTTGCCATCTCTGGAAGTGCTCTCCGACCAG c.780
Q P R A | D R A A I E L P S L E V L S D Q p.260
. | 09 . . . . . g.23059
GAAGAGGACAG | AGAGCAATGTGGTGTTAAAAATGATGAAAGTAGCAGCTCATCCATTATC c.840
E E D R | E Q C G V K N D E S S S S S I I p.280
. . . . . . g.23119
TTTGCTGAGCCCACCCCAGAAAAAGAAAAACGCTTTGGAGAATCTGACACTGAAAATCAG c.900
F A E P T P E K E K R F G E S D T E N Q p.300
. . . . . . g.23179
AATAACAAGTCGGTGAAGTACACCACCAATTTAGTCATAAGAGAATCTGGTGAACTTGAG c.960
N N K S V K Y T T N L V I R E S G E L E p.320
. . . . . . g.23239
TCGACCCTGGAGCTCCAGGAAAATGGCTTGGCTGGTTTGTCTGCCAGTTCAATTGTGGAA c.1020
S T L E L Q E N G L A G L S A S S I V E p.340
. . . . . . g.23299
CAGCAGCTGCCACTCAGGCGTAATTCCCACCTAGAGGAGAGTTTCACATCCACCGAAGAA c.1080
Q Q L P L R R N S H L E E S F T S T E E p.360
. . . | 10 . . g.25579
TCTTCCGAAGAAAATGTCAACTTTTTGGGTCAGACAGAG | GCACAGTACCACCTGATGCTG c.1140
S S E E N V N F L G Q T E | A Q Y H L M L p.380
. . . . . . g.25639
CACATCCAGATGCAGCTGTGTGAGCTCTCGCTGTGGGATTGGATAGTCGAGAGAAACAAG c.1200
H I Q M Q L C E L S L W D W I V E R N K p.400
. . . | 11 . . . g.26734
CGGGGCCGGGAGTATGTGGACGAGTCTGCCT | GTCCTTATGTTATGGCCAATGTTGCAACA c.1260
R G R E Y V D E S A C | P Y V M A N V A T p.420
. . . . . . g.26794
AAAATTTTTCAAGAATTGGTAGAAGGTGTGTTTTACATACATAACATGGGAATTGTGCAC c.1320
K I F Q E L V E G V F Y I H N M G I V H p.440
. | 12 . . . . . g.35245
CGAGATCTGAAG | CCAAGAAATATTTTTCTTCATGGCCCTGATCAGCAAGTAAAAATAGGA c.1380
R D L K | P R N I F L H G P D Q Q V K I G p.460
. . . . . . g.35305
GACTTTGGTCTGGCCTGCACAGACATCCTACAGAAGAACACAGACTGGACCAACAGAAAC c.1440
D F G L A C T D I L Q K N T D W T N R N p.480
| 13. . . . . . g.35585
GGGAAGA | GAACACCAACACATACGTCCAGAGTGGGTACTTGTCTGTACGCTTCACCCGAA c.1500
G K R | T P T H T S R V G T C L Y A S P E p.500
. . . | 14 . . . g.37298
CAGTTGGAAGGATCTGAGTATGATGCCAAG | TCAGATATGTACAGCTTGGGTGTGGTCCTG c.1560
Q L E G S E Y D A K | S D M Y S L G V V L p.520
. . . . . . g.37358
CTAGAGCTCTTTCAGCCGTTTGGAACAGAAATGGAGCGAGCAGAAGTTCTAACAGGTTTA c.1620
L E L F Q P F G T E M E R A E V L T G L p.540
. . . . . . g.37418
AGAACTGGTCAGTTGCCGGAATCCCTCCGTAAAAGGTGTCCAGTGCAAGCCAAGTATATC c.1680
R T G Q L P E S L R K R C P V Q A K Y I p.560
. . . . . . g.37478
CAGCACTTAACGAGAAGGAACTCATCGCAGAGACCATCTGCCATTCAGCTGCTGCAGAGT c.1740
Q H L T R R N S S Q R P S A I Q L L Q S p.580
. . | 15 . . . . g.39464
GAACTTTTCCAAAATTCTGGAAAT | GTTAACCTCACCCTACAGATGAAGATAATAGAGCAA c.1800
E L F Q N S G N | V N L T L Q M K I I E Q p.600
. . . . . . g.39524
GAAAAAGAAATTGCAGAACTAAAGAAGCAGCTAAACCTCCTTTCTCAAGACAAAGGGGTG c.1860
E K E I A E L K K Q L N L L S Q D K G V p.620
. . . g.39557
AGGGATGACGGAAAGGATGGGGGCGTGGGATGA c.1893
R D D G K D G G V G X p.630
. . . . . . g.39617
aagtggacttaacttttaaggtagttaactggaatgtaaatttttaatctttattagggt c.*60
. . . . . . g.39677
atagttggtacaatgcttcgttgtatttagtaagcctttacaagacttgttaaagatgtc c.*120
. . . . . . g.39737
agagtgccccaagctgccgttccttcccttcctgccccacaagctccttttcctgaattt c.*180
. . . . . . g.39797
cctacctaaatattaaccatatgcctagtctctgaaactaaaaacttggacctcatcctc c.*240
. . . . . . g.39857
aattattttctcctttcaactctgttgaccctctgtctggtcttcctctagaaggtaccg c.*300
. . . . . . g.39917
cagaaattgatgtgtgctccctgccctcgtcactgcccaagcccgggcctgcacatactc c.*360
. . . . . . g.39977
actggactgttccagttttgacagctgccagtcttcctgcccctttcacactgcagctga c.*420
. . . . . . g.40037
agttcattacctgaaggacgcctcatcatttcattccttggctccaaaccttctgctgcc c.*480
. . . . . . g.40097
tctaagataaaagctcaacttcttaacagtgtacagtgtgcaacttccaacctttttatc c.*540
. . . . . . g.40157
tgttctctccaccttcagtttagcgtcattccaaaaccacacccttgcaaagctttgtac c.*600
. . . . . . g.40217
tccgcaccccagatgatctccaggcagctcagatctctttcctgcctttgccctgcactg c.*660
. . . . . . g.40277
ttccccggtacttcctcctttattgtagcactcagctccccagccaatctgtacatccct c.*720
. . . . . . g.40337
cagaggcagcgatctgatgaattggtttttgaatcccagaaagggtctgccatggagttg c.*780
. . . . . . g.40397
gcagtcatcacggtagatggcgtatgattttgctgaattttaaataaaatgaaaaccata c.*840
. . . . . . g.40457
aattacatgatgcttttattgacacttgacaactggcctaaataaaaagactctgactct c.*900
. . . . . . g.40517
aatacaagtccccttactgataataggcatgaaagagcaccattcttaaaatctaaaccc c.*960
. . . . . . g.40577
tttaaaatcagttacggcaattcacttaaggagcttgagggccgtgttaaaaggagccag c.*1020
. . . . . . g.40637
gttttcacaagacctcatccacctctgcacattggctggcactgtcacactgcagcctcc c.*1080
. . . . . . g.40697
gatctgctggagtacagaccacagcaccacgtctgctacggtgagttcattcccagcgag c.*1140
. . . . . . g.40757
ccaagggctcttcccaagagcagagttcatggagcggaaaacagcggctttttctttact c.*1200
. . . . . . g.40817
gcttccctcttttaactgaaaaatcgcaatatctacccagctatctataagggttgcgtt c.*1260
. . . . . . g.40877
gacagcattatgcttctggccaaacagagagaacaagaaacgtgcaatgttcccttcgcc c.*1320
. . . . . . g.40937
ttcgatggggcacatcgtctggatgctgaatttcatctgcgtcttcggcactgaaaagaa c.*1380
. . . . . . g.40997
aaaacacgccaggtagcatcaccagagcagccctgagggaagtactcgcacagtggggaa c.*1440
. . . . . . g.41057
ggggacagtcaccaaacaccacagactgatgacatgggaaagggtgttttcaagaagaac c.*1500
. . . . . . g.41117
atcacattttcagtctgtctctaagatgcttactactgaaaagggtttaagtgcaaacta c.*1560
. . . . . . g.41177
tgttaaaaaagtaaccaaagagtcattcctggtatttgattatgacacttctgaagctag c.*1620
. . . . . . g.41237
aagggacctcagaccacctgctccaatccctgctgcctaaggttttgggggctgagggct c.*1680
. . . . . . g.41297
ggaaacccaggagctgcatctcccaggctcttggcctcataatcgccttctgtgagactg c.*1740
. . . . . . g.41357
agggcaattaagatatgaatgacatgaactcgcttatctccatatcaacataaaccagaa c.*1800
. . . . . . g.41417
gaggcatacatctgtgggatagtcaatacataacatcctatctttatatggccatatgag c.*1860
. . . . . . g.41477
aagataacttcagtgtccctatgatggtaagttcttgaatgtgagggcaagatggctgtg c.*1920
. . . . . . g.41537
atagccatgactccccgctttgcctggttggacagaacccccttccccaaatgctcacag c.*1980
. . . . . . g.41597
tcccccccttgagctgtgtctcactcagagaccctaaattttgcagacgaacaagggcat c.*2040
. . . . . . g.41657
ctttgcgttgcttcatctctgctcctcctctagaactatcccacaggctttctagactta c.*2100
. . . . . . g.41717
gaatatctgacctgatgcaaatcgctatgtggccagtatgccacagaatgtcctaaaccc c.*2160
. . . . . . g.41777
ttgctgcctcttatcaaaaccatgttgcacatctcatcatatagtacagctaacccttga c.*2220
. . . . . . g.41837
acagtgggggggttagggacactgacccccgactgctgtgcagtcgaaaatccacataaa c.*2280
. . . . . . g.41897
acttctgactccttcaaaacttaagcactaatagcctactattcatgggaagccttaccc c.*2340
. . . . . . g.41957
atcacagttgattaacacgttttgtatggtctgtatattatatgctatattcttacaata c.*2400
. . g.41983
aacttgagaaaatgttaagaaaataa c.*2426
(downstream sequence)
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