(used for variant description)
(last modified January 7, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_022173.2 in the TIA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering TIA1 transcript NM_022173.2.
(upstream sequence)
. . . g.5037
gctcctaggctcccggctcgccgccatcttgtattgg c.-181
. . . . . . g.5097
ggtttcattgttcccgctgggccgggcggtttagtgtaattgccgccggaggaggaggcg c.-121
. . . . . . g.5157
gagtaacctctggtcagccgagaaaccccactatcctgtagccataaccgcttaaacgat c.-61
. . . . . . g.5217
ttgggaggtagtgaagggcagggagctggacctggaggcgccgccgcgacagcagcagcc c.-1
. . | 02 . . . . g.17506
ATGGAGGACGAGATGCCCAAGACTCT | ATACGTCGGTAACCTTTCCAGAGATGTGACAGAA c.60
M E D E M P K T L | Y V G N L S R D V T E p.20
. . . . . . g.17566
GCTCTAATTCTGCAACTCTTTAGCCAGATTGGACCTTGTAAAAACTGCAAAATGATTATG c.120
A L I L Q L F S Q I G P C K N C K M I M p.40
| 03 . . . . . . g.22850
GAT | ACAGCTGGAAATGATCCCTATTGTTTTGTGGAGTTTCATGAGCATCGTCATGCAGCT c.180
D | T A G N D P Y C F V E F H E H R H A A p.60
. . . . | 04 . . g.24347
GCAGCATTAGCTGCTATGAATGGACGGAAGATAATGGGTAAG | GAAGTCAAAGTGAATTGG c.240
A A L A A M N G R K I M G K | E V K V N W p.80
. . . | 05. . . g.24579
GCAACAACCCCTAGCAGTCAAAAGAAAGATACAAGCA | GTAGTACCGTTGTCAGCACACAG c.300
A T T P S S Q K K D T S S | S T V V S T Q p.100
. | 06 . . . . . g.25875
CGTTCACAAG | ATCATTTCCATGTCTTTGTTGGTGATCTCAGCCCAGAAATTACAACTGAA c.360
R S Q D | H F H V F V G D L S P E I T T E p.120
. . . | 07 . . g.29040
GATATAAAAGCTGCTTTTGCACCATTTGGAAGAATATC | AGATGCCCGAGTGGTAAAAGAC c.420
D I K A A F A P F G R I S | D A R V V K D p.140
. . . . . | 08 . g.36659
ATGGCAACAGGAAAGTCTAAGGGATATGGCTTTGTCTCCTTTTTCAACAAATGG | GATGCT c.480
M A T G K S K G Y G F V S F F N K W | D A p.160
. . . . . . g.36719
GAAAACGCCATTCAACAGATGGGTGGCCAGTGGCTTGGTGGAAGACAAATCAGAACTAAC c.540
E N A I Q Q M G G Q W L G G R Q I R T N p.180
. . . . | 09 . . g.37165
TGGGCAACCCGAAAGCCTCCCGCTCCAAAGAGTACATATGAGT | CAAATACCAAACAGCTA c.600
W A T R K P P A P K S T Y E S | N T K Q L p.200
. . . . . . g.37225
TCATATGATGAGGTTGTAAATCAGTCTAGTCCAAGCAACTGTACTGTATACTGTGGAGGT c.660
S Y D E V V N Q S S P S N C T V Y C G G p.220
. | 10 . . . . g.37396
GTTACTTCTGGGCTAACAG | AACAACTAATGCGTCAGACTTTTTCACCATTTGGACAAATA c.720
V T S G L T E | Q L M R Q T F S P F G Q I p.240
. . . . | 11 . . g.38169
ATGGAAATTCGAGTCTTTCCAGATAAAGGATATTCATTTGTTCG | GTTCAATTCCCATGAA c.780
M E I R V F P D K G Y S F V R | F N S H E p.260
. . . . . . g.38229
AGTGCAGCACATGCAATTGTTTCTGTTAATGGTACTACCATTGAAGGTCATGTTGTGAAA c.840
S A A H A I V S V N G T T I E G H V V K p.280
. . . . | 12 . g.39165
TGCTATTGGGGCAAAGAAACTCTTGATATGATAAATCCCGTGCAACAG | CAGAATCAAATT c.900
C Y W G K E T L D M I N P V Q Q | Q N Q I p.300
. . . . . . g.39225
GGATATCCCCAACCTTATGGCCAGTGGGGCCAGTGGTATGGAAATGCACAACAAATTGGC c.960
G Y P Q P Y G Q W G Q W Y G N A Q Q I G p.320
. . . . . . g.39285
CAGTATATGCCTAATGGTTGGCAAGTTCCTGCATATGGAATGTATGGCCAGGCATGGAAC c.1020
Q Y M P N G W Q V P A Y G M Y G Q A W N p.340
. | 13 . . . . . g.40848
CAGCAAGGATTTAA | TCAGACACAGTCTTCTGCACCATGGATGGGACCAAATTATGGAGTG c.1080
Q Q G F N | Q T Q S S A P W M G P N Y G V p.360
. . . . . . g.40908
CAACCGCCTCAAGGGCAAAATGGCAGCATGTTGCCCAATCAGCCTTCTGGGTATCGAGTG c.1140
Q P P Q G Q N G S M L P N Q P S G Y R V p.380
. . g.40929
GCAGGGTATGAAACCCAGTGA c.1161
A G Y E T Q X p.386
. . . . . . g.40989
ataaggactccagaatctaaagccagtggcttgaggctacagggagtgtagtaaagccgt c.*60
. . . . . . g.41049
tgtttacttaaagatttatcaaatcagtcagtgcaaatgtcagatacaatgtatttattt c.*120
. . . . . . g.41109
aaaagattcatttttaatcatgaaattacttatcatccacattgttttaaaaagaaacaa c.*180
. . . . . . g.41169
gatgctggatgtctgccaatttttgccttcattaccttttttgataaagtttctcagatc c.*240
. . . . . . g.41229
cttgtttcaaacacaaatgcagggattgctgccactttttaactattaagaggcagaaaa c.*300
. . . . . . g.41289
ttgcacaatattgaacttttttccactgaagtagtgtgcagttctagtttgcattcctga c.*360
. . . . . . g.41349
tatgatttaaaacatgtaatataaagatgttaaaaaaaaaaaccaaaactgtgcagagtc c.*420
. . . . . . g.41409
tagaagttgtttgtcatcttcagcttgtgcacaattctgttttaggttaaaaaaaggcat c.*480
. . . . . . g.41469
tgtttgagctgtcccatctccactgttatccctttggggttttttaatataaattattag c.*540
. . . . . . g.41529
tttacatcatttttgtatctacatcttttttcacaaatttgtcttgccttattaaagttc c.*600
. . . . . . g.41589
tgtaaaatatacttaaatggaaaaaatgatgttcatttagattgaaaacttttctcagat c.*660
. . . . . . g.41649
ggattgataattgcattcatcttgtgttttatatgagaaggtgcctcaagaatttcctgt c.*720
. . . . . . g.41709
tggatttgtttaaaaggatttttatctttcgtgataaactttgctgtgtaccaggaacta c.*780
. . . . . . g.41769
taaaaacaaaaacttgttactaaagaaaatatctgaaatgtgataagttcttatgccatg c.*840
. . . . . . g.41829
ttaatttcatgtgtcaacttcaacatttacatgtattatttcattatgtaaaatgtttta c.*900
. . . . . . g.41889
gcaatttaatattttgcacagttagcaaactttgtatgtcatttccttcaaggcatcatg c.*960
. . . . . . g.41949
cagagttgacatgagatttataaggttttaagttgtttgcatgtgaaaatcaaatacata c.*1020
. . . . . . g.42009
ctttggtagtctttgaatacaaagtcatctgctcttgtttttcaagaattttgagacaca c.*1080
. . . . . . g.42069
aagttgtatgtaaaggaatatattaatttgccgttttctaggtagatttgctcaaaaaga c.*1140
. . . . . . g.42129
gtgaatcaacttaatatgtacaaatgatagctgtgaaactgtagaatatctttgtgtcag c.*1200
. . . . . . g.42189
gcttggagttcattgtgacctccaaattttgcctgaaggaccagctgggcaaagcatctt c.*1260
. . . . . . g.42249
ttaaatgttcagaggccaaaagataaacaaaaaaaaaaccttaaaatcctacctctttaa c.*1320
. . . . . . g.42309
acagccttcagataagagaatcctcagtgcaatcattattttgattcgtttggtacctgt c.*1380
. . . . . . g.42369
tttcctggagttcccgattttattattttggggtggctccaagcattaagaggtttaatc c.*1440
. . . . . . g.42429
tttgatggcattgttctagttttgaaatttctagtatatttcagagtctcttagaagact c.*1500
. . . . . . g.42489
tgtgtgggaagtttcactttgttttcagtgaagatcacaaacctccttcttcctttactc c.*1560
. . . . . . g.42549
aagaggaaaggtcccagtatacatatttgaatggttgatggttttcaagaccttcaggga c.*1620
. . . . . . g.42609
gctccctgcattttacctagaaacagaaaaggcccgcaaaatcttaagtttcctggcctg c.*1680
. . . . . . g.42669
catttcccgggtaggggcaaatgactccaagctggtctctaagccaatacccttataaac c.*1740
. . . . . . g.42729
cagagcccaggaaagacagctcgagtgtataattctctggagctcaattctatgcagttg c.*1800
. . . . . . g.42789
tgctgatatttcattaagtcactgtgtatttttaagtgttgatacattaaaagtcgcttt c.*1860
. . . . . . g.42849
atggaagatgagtaaattttttaaatacttggaaattttatttccttgttaacttctaca c.*1920
. . . . . . g.42909
gatcagggcatgcaaccaaaagcagcttaaatgaaatattttaaaataaaatatcaggaa c.*1980
. . . . . . g.42969
gctatttttagatttcttctggcttatgtttctactttaggaccctcattgttctcttat c.*2040
. . . . . . g.43029
taaaaaaaattatttcctgtgcatctcatggactgcagggtaaattatttgggcataaat c.*2100
. . . . . . g.43089
aatttaaatagttttctttcattttgactatctccagtaataacagtttttattatccag c.*2160
. . . . . . g.43149
catattggcttattgcacaaatcttaaaatgtacattgactactttctgagaagaaagtg c.*2220
. . . . . . g.43209
gtatcagtactcatgatgaaaaggttactactgaacaaattcacatttcaggaacacctc c.*2280
. . . . . . g.43269
tatctttggtttaaatcttactcttagtttttccgtctaaaaatcatactggtattagta c.*2340
. . . . . . g.43329
tcaggtaaggaaattaaagtttttaaaatggtttcattctctgcaatatgcaaaatttag c.*2400
. . . . . . g.43389
attttactttctggtactgtaaagaacctgaagtgatttacacttaatgggtgattaatc c.*2460
. . . . . . g.43449
cagtattctttaccctgaatgtttggatattaaagttcctttatgttttctataacctgt c.*2520
. . . . . . g.43509
gggatcttcttgcagtgattattgtgtgtgagattttttttctttttggtctatccatat c.*2580
. . . . . . g.43569
tgttatattcactcaggtattttttttttaatcttattccagaatcagtggtttatattg c.*2640
. . . . . . g.43629
ggttactgtttaacaccaaatggaattggcattctgcagatttaattaattatgaaacca c.*2700
. . . . . . g.43689
gggtctcattttccttgctgatacttgttgaaaatgagattcacattctagtctttattt c.*2760
. . . . . . g.43749
tcctcctgttttgtccctgtgcttgtacatcttccttttatttgtgtgttatagttctat c.*2820
. . . . . . g.43809
tccatttgagaaggcagttggtaagaactagattgcatgtacaaagacaggtttactaag c.*2880
. . . . . . g.43869
tgctgtacagtggtcctgaggttacagttgaattagaaaaacgaaatgtacttacaggaa c.*2940
. . . . . . g.43929
ataagaaagcaaacctttcaaatgagagtgatgatttctttaaaaaaaatcagttttttt c.*3000
. . . . . . g.43989
ctctcaaataatgttctttatttcacgaaatcgtcaatcttaagcatgagcagggataaa c.*3060
. . . . . . g.44049
caactcctagaaggaactcaattcattcttcctggattttctctgttgttaaatcacaaa c.*3120
. . . . . . g.44109
aatgatagtccccaatcgtttctttataggaggttattacatttcattacagtcactgca c.*3180
. . . . . . g.44169
ttttgactgttgtgtttagaatttgaatgtacatccaaaatgatgagtttcaatttaaga c.*3240
. . . g.44204
gccttaataaaatgtgtgagtgtgtctcaattgaa c.*3275
(downstream sequence)
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