(used for variant description)
(last modified July 30, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_002745.4 in the MAPK1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023054.2, covering MAPK1 transcript NM_002745.4.
(upstream sequence)
. . . . . . g.5060
gcccctccctccgcccgcccgccggcccgcccgtcagtctggcaggcaggcaggcaatcg c.-181
. . . . . . g.5120
gtccgagtggctgtcggctcttcagctctcccgctcggcgtcttccttcctcctcccggt c.-121
. . . . . . g.5180
cagcgtcggcggctgcaccggcggcggcgcagtccctgcgggaggggcgacaagagctga c.-61
. . . . . . g.5240
gcggcggccgccgagcgtcgagctcagcgcggcggaggcggcggcggcccggcagccaac c.-1
. . . . . . g.5300
ATGGCGGCGGCGGCGGCGGCGGGCGCGGGCCCGGAGATGGTCCGCGGGCAGGTGTTCGAC c.60
M A A A A A A G A G P E M V R G Q V F D p.20
. . . . . | 02 g.64836
GTGGGGCCGCGCTACACCAACCTCTCGTACATCGGCGAGGGCGCCTACGGCATGGTGTG | C c.120
V G P R Y T N L S Y I G E G A Y G M V C | p.40
. . . . . . g.64896
TCTGCTTATGATAATGTCAACAAAGTTCGAGTAGCTATCAAGAAAATCAGCCCCTTTGAG c.180
S A Y D N V N K V R V A I K K I S P F E p.60
. . . . . . g.64956
CACCAGACCTACTGCCAGAGAACCCTGAGGGAGATAAAAATCTTACTGCGCTTCAGACAT c.240
H Q T Y C Q R T L R E I K I L L R F R H p.80
. . . . . . g.65016
GAGAACATCATTGGAATCAATGACATTATTCGAGCACCAACCATCGAGCAAATGAAAGAT c.300
E N I I G I N D I I R A P T I E Q M K D p.100
| 03 . . . . . . g.66700
GT | ATATATAGTACAGGACCTCATGGAAACAGATCTTTACAAGCTCTTGAAGACACAACAC c.360
V | Y I V Q D L M E T D L Y K L L K T Q H p.120
. . . . . . g.66760
CTCAGCAATGACCATATCTGCTATTTTCTCTACCAGATCCTCAGAGGGTTAAAATATATC c.420
L S N D H I C Y F L Y Q I L R G L K Y I p.140
. . . . . . g.66820
CATTCAGCTAACGTTCTGCACCGTGACCTCAAGCCTTCCAACCTGCTGCTCAACACCACC c.480
H S A N V L H R D L K P S N L L L N T T p.160
. | 04 . . . . . g.73601
TGTGATCTCAAG | ATCTGTGACTTTGGCCTGGCCCGTGTTGCAGATCCAGACCATGATCAC c.540
C D L K | I C D F G L A R V A D P D H D H p.180
. . . . . . g.73661
ACAGGGTTCCTGACAGAATATGTGGCCACACGTTGGTACAGGGCTCCAGAAATTATGTTG c.600
T G F L T E Y V A T R W Y R A P E I M L p.200
| 05 . . . . . g.83924
AATTCCAAG | GGCTACACCAAGTCCATTGATATTTGGTCTGTAGGCTGCATTCTGGCAGAA c.660
N S K | G Y T K S I D I W S V G C I L A E p.220
. . . . . . g.83984
ATGCTTTCTAACAGGCCCATCTTTCCAGGGAAGCATTATCTTGACCAGCTGAACCACATT c.720
M L S N R P I F P G K H Y L D Q L N H I p.240
| 06 . . . . . . g.84349
TTGG | GTATTCTTGGATCCCCATCACAAGAAGACCTGAATTGTATAATAAATTTAAAAGCT c.780
L G | I L G S P S Q E D L N C I I N L K A p.260
. . . . . . g.84409
AGGAACTATTTGCTTTCTCTTCCACACAAAAATAAGGTGCCATGGAACAGGCTGTTCCCA c.840
R N Y L L S L P H K N K V P W N R L F P p.280
. | 07 . . . . . g.99743
AATGCTGACTCCAAAG | CTCTGGACTTATTGGACAAAATGTTGACATTCAACCCACACAAG c.900
N A D S K A | L D L L D K M L T F N P H K p.300
. . . . . . g.99803
AGGATTGAAGTAGAACAGGCTCTGGCCCACCCATATCTGGAGCAGTATTACGACCCGAGT c.960
R I E V E Q A L A H P Y L E Q Y Y D P S p.320
| 08 . . . . . . g.103415
GACGAG | CCCATCGCCGAAGCACCATTCAAGTTCGACATGGAATTGGATGACTTGCCTAAG c.1020
D E | P I A E A P F K F D M E L D D L P K p.340
. . . . . . g.103475
GAAAAGCTCAAAGAACTAATTTTTGAAGAGACTGCTAGATTCCAGCCAGGATACAGATCT c.1080
E K L K E L I F E E T A R F Q P G Y R S p.360
g.103478
TAA | c.1084
X p.360
| 09 . . . . . g.108492
atttgtcag | gacaagggctcagaggactggacgtgctcagacatcggtgttcttcttccc c.*60
. . . . . . g.108552
agttcttgacccctggtcctgtctccagcccgtcttggcttatccactttgactcctttg c.*120
. . . . . . g.108612
agccgtttggaggggcggtttctggtagttgtggcttttatgctttcaaagaatttcttc c.*180
. . . . . . g.108672
agtccagagaattcctcctggcagccctgtgtgtgtcacccattggtgacctgcggcagt c.*240
. . . . . . g.108732
atgtacttcagtgcacctactgcttactgttgctttagtcactaattgctttctggtttg c.*300
. . . . . . g.108792
aaagatgcagtggttcctccctctcctgaatccttttctacatgatgccctgctgaccat c.*360
. . . . . . g.108852
gcagccgcaccagagagagattcttccccaattggctctagtcactggcatctcacttta c.*420
. . . . . . g.108912
tgatagggaaggctactacctagggcactttaagtcagtgacagccccttatttgcactt c.*480
. . . . . . g.108972
caccttttgaccataactgtttccccagagcaggagcttgtggaaataccttggctgatg c.*540
. . . . . . g.109032
ttgcagcctgcagcaagtgcttccgtctccggaatccttggggagcacttgtccacgtct c.*600
. . . . . . g.109092
tttctcatatcatggtagtcactaacatatataaggtatgtgctattggcccagctttta c.*660
. . . . . . g.109152
gaaaatgcagtcatttttctaaataaaaaggaagtactgcacccagcagtgtcactctgt c.*720
. . . . . . g.109212
agttactgtggtcacttgtaccatatagaggtgtaacacttgtcaagaagcgttatgtgc c.*780
. . . . . . g.109272
agtacttaatgtttgtaagacttacaaaaaaagatttaaagtggcagcttcactcgacat c.*840
. . . . . . g.109332
ttggtgagagaagtacaaaggttgcagtgctgagctgtgggcggtttctggggatgtccc c.*900
. . . . . . g.109392
agggtggaactccacatgctggtgcatatacgcccttgagctacttcaaatgtgggtgtt c.*960
. . . . . . g.109452
tcagtaaccacgttccatgcctgaggatttagcagagaggaacactgcgtctttaaatga c.*1020
. . . . . . g.109512
gaaagtatacaattctttttccttctacagcatgtcagcatctcaagttcatttttcaac c.*1080
. . . . . . g.109572
ctacagtataacaatttgtaataaagcctccaggagctcatgacgtgaagcactgttctg c.*1140
. . . . . . g.109632
tcctcaagtactcaaatatttctgatactgctgagtcagactgtcagaaaaagctagcac c.*1200
. . . . . . g.109692
taactcgtgtttggagctctatccatattttactgatctctttaagtatttgttcctgcc c.*1260
. . . . . . g.109752
actgtgtactgtggagttgactcggtgttctgtcccagtgcggtgcctcctcttgacttc c.*1320
. . . . . . g.109812
cccactgctctctgtggtgagaaatttgccttgttcaataattactgtaccctcgcatga c.*1380
. . . . . . g.109872
ctgttacagctttctgtgcagagatgactgtccaagtgccacatgcctacgattgaaatg c.*1440
. . . . . . g.109932
aaaactctattgttacctctgagttgtgttccacggaaaatgctatccagcagatcattt c.*1500
. . . . . . g.109992
aggaaaaataattctatttttagcttttcatttctcagctgtccttttttcttgtttgat c.*1560
. . . . . . g.110052
ttttgacagcaatggagaatgggttatataaagactgcctgctaatatgaacagaaatgc c.*1620
. . . . . . g.110112
atttgtaattcatgaaaataaatgtacatcttctatcttcacattcatgttaagattcag c.*1680
. . . . . . g.110172
tgttgctttcctctggatcagcgtgtctgaatggacagtcaggttcaggttgtgctgaac c.*1740
. . . . . . g.110232
acagaaatgctcacaggcctcactttgccgcccaggcactggcccagcacttggatttac c.*1800
. . . . . . g.110292
ataagatgagttagaaaggtacttctgtagggtcctttttacctctgctcggcagagaat c.*1860
. . . . . . g.110352
cgatgctgtcatgttcctttattcacaatcttaggtctcaaatattctgtcaaaccctaa c.*1920
. . . . . . g.110412
caaagaagccccgacatctcaggttggattccctggttctctctaaagagggcctgccct c.*1980
. . . . . . g.110472
tgtgccccagaggtgctgctgggcacagccaagagttgggaagggccgccccacagtacg c.*2040
. . . . . . g.110532
cagtcctcaccacccagcccagggtgctcacgctcaccactcctgtggctgaggaaggat c.*2100
. . . . . . g.110592
agctggctcatcctcggaaaacagacccacatctctattcttgccctgaaatacgcgctt c.*2160
. . . . . . g.110652
ttcacttgcgtgctcagagctgccgtctgaaggtccacacagcattgacgggacacagaa c.*2220
. . . . . . g.110712
atgtgactgttaccggataacactgattagtcagttttcatttataaaaaagcattgaca c.*2280
. . . . . . g.110772
gttttattactcttgtttctttttaaatggaaagttactattataaggttaatttggagt c.*2340
. . . . . . g.110832
cctcttctaaatagaaaaccatatccttggctactaacatctggagactgtgagctcctt c.*2400
. . . . . . g.110892
cccattccccttcctggtactgtggagtcagattggcatgaaaccactaacttcattcta c.*2460
. . . . . . g.110952
gaatcattgtagccataagttgtgtgctttttattaatcatgccaaacataatgtaactg c.*2520
. . . . . . g.111012
ggcagagaatggtcctaaccaaggtacctatgaaaagcgctagctatcatgtgtagtaga c.*2580
. . . . . . g.111072
tgcatcattttggctcttcttacatttgtaaaaatgtacagattaggtcatcttaattca c.*2640
. . . . . . g.111132
tattagtgacacggaacagcacctccactatttgtatgttcaaataagctttcagactaa c.*2700
. . . . . . g.111192
tagcttttttggtgtctaaaatgtaagcaaaaaattcctgctgaaacattccagtccttt c.*2760
. . . . . . g.111252
catttagtataaaagaaatactgaacaagccagtgggatggaattgaaagaactaatcat c.*2820
. . . . . . g.111312
gaggactctgtcctgacacaggtcctcaaagctagcagagatacgcagacattgtggcat c.*2880
. . . . . . g.111372
ctgggtagaagaatactgtattgtgtgtgcagtgcacagtgtgtggtgtgtgcacactca c.*2940
. . . . . . g.111432
ttccttctgctcttgggcacaggcagtgggtgtagaggtaaccagtagctttgagaagct c.*3000
. . . . . . g.111492
acatgtagctcaccagtggttttctctaaggaatcacaaaagtaaactacccaaccacat c.*3060
. . . . . . g.111552
gccacgtaatatttcagccattcagaggaaactgttttctctttatttgcttatatgtta c.*3120
. . . . . . g.111612
atatggtttttaaattggtaacttttatatagtatggtaacagtatgttaatacacacat c.*3180
. . . . . . g.111672
acatacgcacacatgctttgggtccttccataatacttttatatttgtaaatcaatgttt c.*3240
. . . . . . g.111732
tggagcaatcccaagtttaagggaaatatttttgtaaatgtaatggttttgaaaatctga c.*3300
. . . . . . g.111792
gcaatccttttgcttatacatttttaaagcatttgtgctttaaaattgttatgctggtgt c.*3360
. . . . . . g.111852
ttgaaacatgatactcctgtggtgcagatgagaagctataacagtgaatatgtggtttct c.*3420
. . . . . . g.111912
cttacgtcatccaccttgacatgatgggtcagaaacaaatggaaatccagagcaagtcct c.*3480
. . . . . . g.111972
ccagggttgcaccaggtttacctaaagcttgttgccttttcttgtgctgtttatgcgtgt c.*3540
. . . . . . g.112032
agagcactcaagaaagttctgaaactgctttgtatctgctttgtactgttggtgccttct c.*3600
. . . . . . g.112092
tggtattgtaccccaaaattctgcatagattatttagtataatggtaagttaaaaaatgt c.*3660
. . . . . . g.112152
taaaggaagattttattaagaatctgaatgtttattcattatattgttacaatttaacat c.*3720
. . . . . . g.112212
taacatttatttgtggtatttgtgatttggttaatctgtataaaaattgtaagtagaaag c.*3780
. . . . . . g.112272
gtttatatttcatcttaattcttttgatgttgtaaacgtactttttaaaagatggattat c.*3840
. . . . . . g.112332
ttgaatgtttatggcacctgacttgtaaaaaaaaaaaactacaaaaaaatccttagaatc c.*3900
. . . . . . g.112392
attaaattgtgtccctgtattaccaaaataacacagcaccgtgcatgtatagtttaattg c.*3960
. . . . . . g.112452
cagtttcatctgtgaaaacgtgaaattgtctagtccttcgttatgttccccagatgtctt c.*4020
. . . . . . g.112512
ccagatttgctctgcatgtggtaacttgtgttagggctgtgagctgttcctcgagttgaa c.*4080
. . . . . . g.112572
tggggatgtcagtgctcctagggttctccaggtggttcttcagaccttcacctgtggggg c.*4140
. . . . . . g.112632
ggggggtaggcggtgcccacgcccatctcctcatcctcctgaacttctgcaaccccactg c.*4200
. . . . . . g.112692
ctgggcagacatcctgggcaaccccttttttcagagcaagaagtcataaagataggattt c.*4260
. . . . . . g.112752
cttggacatttggttcttatcaatattgggcattatgtaatgacttatttacaaaacaaa c.*4320
. . . . . . g.112812
gatactggaaaatgttttggatgtggtgttatggaaagagcacaggccttggacccatcc c.*4380
. . . . . . g.112872
agctgggttcagaactaccccctgcttataactgcggctggctgtgggccagtcattctg c.*4440
. . . . . . g.112932
cgtctctgctttcttcctctgcttcagactgtcagctgtaaagtggaagcaatattactt c.*4500
. . . . . . g.112992
gccttgtatatggtaaagattataaaaatacatttcaactgttcagcatagtacttcaaa c.*4560
. . . g.113025
gcaagtactcagtaaatagcaagtctttttaaa c.*4593
(downstream sequence)
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