(used for variant description)
(last modified May 11, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_005896.2 in the IDH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023319.2, covering IDH1 transcript NM_005896.2.
(upstream sequence)
. . . . . g.5054
cctgtggtcccgggtttctgcagagtctacttcagaagcggaggcactgggagt c.-181
. . . . . . g.5114
ccggtttgggattgccaggctgtggttgtgagtctgagcttgtgagcggctgtggcgccc c.-121
. . . | 02 . . g.6153
caactcttcgccagcatatcatcccggcag | gcgataaactacattcagttgagtctgcaa c.-61
. . . . . | 03 . g.8531
gactgggaggaactggggtgataagaaatctattcactgtcaag | gtttattgaagtcaaa c.-1
. . . . . . g.8591
ATGTCCAAAAAAATCAGTGGCGGTTCTGTGGTAGAGATGCAAGGAGATGAAATGACACGA c.60
M S K K I S G G S V V E M Q G D E M T R p.20
. . . . . . g.8651
ATCATTTGGGAATTGATTAAAGAGAAACTCATTTTTCCCTACGTGGAATTGGATCTACAT c.120
I I W E L I K E K L I F P Y V E L D L H p.40
| 04 . . . . . . g.11480
AG | CTATGATTTAGGCATAGAGAATCGTGATGCCACCAACGACCAAGTCACCAAGGATGCT c.180
S | Y D L G I E N R D A T N D Q V T K D A p.60
. . . . . . g.11540
GCAGAAGCTATAAAGAAGCATAATGTTGGCGTCAAATGTGCCACTATCACTCCTGATGAG c.240
A E A I K K H N V G V K C A T I T P D E p.80
. . . . . . g.11600
AAGAGGGTTGAGGAGTTCAAGTTGAAACAAATGTGGAAATCACCAAATGGCACCATACGA c.300
K R V E E F K L K Q M W K S P N G T I R p.100
. . . . . . g.11660
AATATTCTGGGTGGCACGGTCTTCAGAGAAGCCATTATCTGCAAAAATATCCCCCGGCTT c.360
N I L G G T V F R E A I I C K N I P R L p.120
. . . . . | 05 . g.14664
GTGAGTGGATGGGTAAAACCTATCATCATAGGTCGTCATGCTTATGGGGATCAA | TACAGA c.420
V S G W V K P I I I G R H A Y G D Q | Y R p.140
. . . . . . g.14724
GCAACTGATTTTGTTGTTCCTGGGCCTGGAAAAGTAGAGATAACCTACACACCAAGTGAC c.480
A T D F V V P G P G K V E I T Y T P S D p.160
. . . . | 06 . . g.16498
GGAACCCAAAAGGTGACATACCTGGTACATAACTTTGAAG | AAGGTGGTGGTGTTGCCATG c.540
G T Q K V T Y L V H N F E E | G G G V A M p.180
. . . . . . g.16558
GGGATGTATAATCAAGATAAGTCAATTGAAGATTTTGCACACAGTTCCTTCCAAATGGCT c.600
G M Y N Q D K S I E D F A H S S F Q M A p.200
. . . . . . g.16618
CTGTCTAAGGGTTGGCCTTTGTATCTGAGCACCAAAAACACTATTCTGAAGAAATATGAT c.660
L S K G W P L Y L S T K N T I L K K Y D p.220
. . . | 07 . . g.17959
GGGCGTTTTAAAGACATCTTTCAGGAGATATATGACAA | GCAGTACAAGTCCCAGTTTGAA c.720
G R F K D I F Q E I Y D K | Q Y K S Q F E p.240
. . . . . . g.18019
GCTCAAAAGATCTGGTATGAGCATAGGCTCATCGACGACATGGTGGCCCAAGCTATGAAA c.780
A Q K I W Y E H R L I D D M V A Q A M K p.260
. . . . . . g.18079
TCAGAGGGAGGCTTCATCTGGGCCTGTAAAAACTATGATGGTGACGTGCAGTCGGACTCT c.840
S E G G F I W A C K N Y D G D V Q S D S p.280
. | 08 . . . . . g.20129
GTGGCCCAAG | GGTATGGCTCTCTCGGCATGATGACCAGCGTGCTGGTTTGTCCAGATGGC c.900
V A Q G | Y G S L G M M T S V L V C P D G p.300
. . . . . . g.20189
AAGACAGTAGAAGCAGAGGCTGCCCACGGGACTGTAACCCGTCACTACCGCATGTACCAG c.960
K T V E A E A A H G T V T R H Y R M Y Q p.320
. . . | 09 . . . g.20878
AAAGGACAGGAGACGTCCACCAATCCCATTG | CTTCCATTTTTGCCTGGACCAGAGGGTTA c.1020
K G Q E T S T N P I A | S I F A W T R G L p.340
. . . . . . g.20938
GCCCACAGAGCAAAGCTTGATAACAATAAAGAGCTTGCCTTCTTTGCAAATGCTTTGGAA c.1080
A H R A K L D N N K E L A F F A N A L E p.360
. . . . . . g.20998
GAAGTCTCTATTGAGACAATTGAGGCTGGCTTCATGACCAAGGACTTGGCTGCTTGCATT c.1140
E V S I E T I E A G F M T K D L A A C I p.380
. | 10 . . . . . g.22959
AAAGGTTTACCCAA | TGTGCAACGTTCTGACTACTTGAATACATTTGAGTTCATGGATAAA c.1200
K G L P N | V Q R S D Y L N T F E F M D K p.400
. . . . g.23004
CTTGGAGAAAACTTGAAGATCAAACTAGCTCAGGCCAAACTTTAA c.1245
L G E N L K I K L A Q A K L X p.414
. . . . . . g.23064
gttcatacctgagctaagaaggataattgtcttttggtaactaggtctacaggtttacat c.*60
. . . . . . g.23124
ttttctgtgttacactcaaggataaaggcaaaatcaattttgtaatttgtttagaagcca c.*120
. . . . . . g.23184
gagtttatcttttctataagtttacagcctttttcttatatatacagttattgccacctt c.*180
. . . . . . g.23244
tgtgaacatggcaagggacttttttacaatttttattttattttctagtaccagcctagg c.*240
. . . . . . g.23304
aattcggttagtactcatttgtattcactgtcactttttctcatgttctaattataaatg c.*300
. . . . . . g.23364
accaaaatcaagattgctcaaaagggtaaatgatagccacagtattgctccctaaaatat c.*360
. . . . . . g.23424
gcataaagtagaaattcactgccttcccctcctgtccatgaccttgggcacagggaagtt c.*420
. . . . . . g.23484
ctggtgtcatagatatcccgttttgtgaggtagagctgtgcattaaacttgcacatgact c.*480
. . . . . . g.23544
ggaacgaagtaggagtgcaactcaaatgtgttgaagatactgcagtcatttttgtaaaga c.*540
. . . . . . g.23604
ccttgctgaatgtttccaatagactaaatactgtttaggccgcaggagagtttggaatcc c.*600
. . . . . . g.23664
ggaataaatactacctggaggtttgtcctctccatttttctctttctcctcctggcctgg c.*660
. . . . . . g.23724
cctgaatattatactactctaaatagcatatttcatccaagtgcaataatgtaagctgaa c.*720
. . . . . . g.23784
tcttttttggacttctgctggcctgttttatttcttttatataaatgtgatttctcagaa c.*780
. . . . . . g.23844
attgatattaaacactatcttatcttctcctgaactgttgattttaattaaaattaagtg c.*840
. g.23854
ctaattacca c.*850
(downstream sequence)
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