(used for variant description)
(last modified February 23, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_006371.4 in the CRTAP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008122.1, covering CRTAP transcript NM_006371.4.
(upstream sequence)
. . . . . . g.5060
aggctggcgtccccgccccgaaagcactgggcccgccgcgtcgcaccgtcctctttcctt c.-61
. . . . . . g.5120
tccttctccctccccttttcccttccttcgtcccttccttccttcctttcgccgggcgcg c.-1
. . . . . . g.5180
ATGGAGCCGGGGCGCCGGGGGGCCGCGGCGCTGCTAGCGCTGCTGTGCGTGGCCTGCGCG c.60
M E P G R R G A A A L L A L L C V A C A p.20
. . . . . . g.5240
CTGCGCGCCGGGCGCGCCCAATACGAACGCTACAGCTTCCGCAGCTTCCCACGGGACGAG c.120
L R A G R A Q Y E R Y S F R S F P R D E p.40
. . . . . . g.5300
CTGATGCCGCTCGAGTCGGCCTACCGGCACGCGCTGGACAAGTACAGCGGCGAGCACTGG c.180
L M P L E S A Y R H A L D K Y S G E H W p.60
. . . . . . g.5360
GCCGAGAGCGTGGGCTACCTGGAGATCAGCCTGCGGCTGCACCGCTTGCTGCGCGACAGC c.240
A E S V G Y L E I S L R L H R L L R D S p.80
. . . . . . g.5420
GAGGCCTTCTGCCACCGCAACTGCAGCGCCGCGCCGCAGCCCGAGCCCGCCGCCGGCCTC c.300
E A F C H R N C S A A P Q P E P A A G L p.100
. . . . . . g.5480
GCCAGCTATCCCGAGCTGCGCCTCTTCGGGGGCCTGCTGCGCCGCGCGCACTGCCTCAAG c.360
A S Y P E L R L F G G L L R R A H C L K p.120
. . . . . . g.5540
CGCTGCAAGCAGGGCCTGCCAGCCTTCCGCCAGTCCCAGCCCAGCCGCGAGGTGCTGGCG c.420
R C K Q G L P A F R Q S Q P S R E V L A p.140
. . . . . | 02 . g.11395
GACTTCCAGCGCCGCGAGCCCTACAAGTTCCTGCAGTTCGCTTACTTCAAG | GCAAATAAT c.480
D F Q R R E P Y K F L Q F A Y F K | A N N p.160
. . . . . . g.11455
CTCCCCAAAGCCATCGCCGCTGCTCACACCTTTCTACTGAAGCATCCTGATGACGAAATG c.540
L P K A I A A A H T F L L K H P D D E M p.180
. . . . . . g.11515
ATGAAGAGGAACATGGCATATTATAAGAGCCTGCCTGGTGCCGAGGACTACATTAAAGAC c.600
M K R N M A Y Y K S L P G A E D Y I K D p.200
. . | 03 . . . . g.15489
CTGGAAACCAAGTCATATGAA | AGCCTGTTCATCCGAGCAGTGCGGGCATACAACGGTGAG c.660
L E T K S Y E | S L F I R A V R A Y N G E p.220
. . . . . . g.15549
AACTGGAGAACATCCATCACAGACATGGAGCTGGCCCTTCCCGACTTCTTCAAAGCCTTT c.720
N W R T S I T D M E L A L P D F F K A F p.240
. . . . . . g.15609
TACGAGTGTCTCGCAGCCTGCGAGGGTTCCAGGGAGATCAAGGACTTCAAGGATTTCTAC c.780
Y E C L A A C E G S R E I K D F K D F Y p.260
. | 04 . . . . . g.21028
CTTTCCATAGCAG | ATCATTATGTAGAAGTTCTGGAATGCAAAATACAGTGTGAAGAGAAC c.840
L S I A D | H Y V E V L E C K I Q C E E N p.280
. . . . . . g.21088
CTCACCCCAGTTATAGGAGGCTATCCGGTTGAGAAATTTGTGGCTACCATGTATCATTAC c.900
L T P V I G G Y P V E K F V A T M Y H Y p.300
. . | 05 . . . . g.23635
TTGCAGTTTGCCTATTATAAGT | TGAACGACCTGAAGAATGCAGCCCCCTGTGCAGTCAGC c.960
L Q F A Y Y K L | N D L K N A A P C A V S p.320
. . . . . . g.23695
TATCTGCTCTTTGATCAGAATGACAAGGTCATGCAGCAGAACCTGGTGTATTACCAGTAC c.1020
Y L L F D Q N D K V M Q Q N L V Y Y Q Y p.340
. . . . | 06 . g.25236
CACAGGGACACTTGGGGCCTCTCGGATGAGCACTTCCAGCCCAGACCT | GAAGCAGTTCAG c.1080
H R D T W G L S D E H F Q P R P | E A V Q p.360
. . . . . . g.25296
TTCTTTAATGTGACCACACTCCAGAAGGAGCTGTATGACTTTGCTAAGGAAAATATAATG c.1140
F F N V T T L Q K E L Y D F A K E N I M p.380
. | 07 . . . . . g.33485
GATGATGATGAG | GGAGAAGTTGTGGAATATGTGGATGACCTCTTGGAACTGGAGGAGACC c.1200
D D D E | G E V V E Y V D D L L E L E E T p.400
g.33491
AGCTAG c.1206
S X p.401
. . . . . . g.33551
cccacagcaaccaaagagacttcctcttggcgttcaggaaacacagattctttgtccttt c.*60
. . . . . . g.33611
tcccaacagcccaggctgttgatacctcagagccttctctttactctccaaagtgaaagg c.*120
. . . . . . g.33671
gaagcccccgtctctctaactgcatgtcatcaggggtgagcctgcctttcctatcttcac c.*180
. . . . . . g.33731
acctgccacctcatgttcacacctatctttctcaccttttttttgagatggagtctcgct c.*240
. . . . . . g.33791
ctcttgcccaggctggagtgcaatggcacgttctcagctcactgcaacctccgcctcttg c.*300
. . . . . . g.33851
ggttcaagcaattctgctgcatcagcctcccgagtacctgggattacaggcatgtgccac c.*360
. . . . . . g.33911
cacgcccggctaattttgtatttttagtagagacggggttttgccatgttggccaggctg c.*420
. . . . . . g.33971
gtctcgaactcttgacttcagatgatccatctgccttggcctcccacagtgctgggatta c.*480
. . . . . . g.34031
caggcgtgagccaccatgcccggcctctttctcacctttacacctgtcttcttatcctca c.*540
. . . . . . g.34091
catctgttttcacaccttcatccctgtcttcctcatgttcacacttgtcttccccatgtt c.*600
. . . . . . g.34151
catagctgcctttcttaccattttggtttgaagggcagtcttctctggcttgtttttttg c.*660
. . . . . . g.34211
tttttcccagaaaatcagtattattttttaaataagaaaaacattcctagaagatgataa c.*720
. . . . . . g.34271
ttgtgaaaacctcctttggcttatttgcttttccagattttagtctcctttctccccatc c.*780
. . . . . . g.34331
cgggaaagatggtggaagacataggctaaatttctccagcctcacaatggtcttcacttg c.*840
. . . . . . g.34391
gtctgacttgtaccaattctagcacccactgaaaaacaagttgagtagagagtgtagagt c.*900
. . . . . . g.34451
gcagaaatgtggcttttgccccactttgcatctccaaaattacaacggttggccgatccc c.*960
. . . . . . g.34511
atttgaggacaatgcttagttataagtctccgagttggaaaaggaagaaagccagagctg c.*1020
. . . . . . g.34571
tctagtttcattcattctttcagtaaatatttattgagtacctactgtgtgctaggcatt c.*1080
. . . . . . g.34631
gacctgggaactagagatacttcacagaataacagggaaagttccctgtgctcatggagc c.*1140
. . . . . . g.34691
ttacattctacagggagaaagagatagccaatacataggaataaatatatacaaggtatc c.*1200
. . . . . . g.34751
atgtagtgataattgctgtggagaaaaataaagcaggggagggagtaagaaatcctggag c.*1260
. . . . . . g.34811
atgaggctgcagttttaaatggggcctcactgggaatgtgacgttgagcagagacgttag c.*1320
. . . . . . g.34871
ggaagtggatcctggacaaggcattccaggcagaggaacaggatgtgcactgccccaaag c.*1380
. . . . . . g.34931
tgagaacttgctctacgtggtcaggaaagagcagggagaccaagcagagtcgtgggcagg c.*1440
. . . . . . g.34991
ggtagaatggaaggagaggcggctggggaggacaggtggtggagggccttggcttctgct c.*1500
. . . . . . g.35051
aagtgagatgggaaccactggagggtttgaacagaggagtgccttgattgatttatattt c.*1560
. . . . . . g.35111
tgcaagggtcattctagctgccatattgtgaaaaactttagtggacaagggcagaaggaa c.*1620
. . . . . . g.35171
gagggaagacctgttaggaagctactgcaaggttccaggcttgggcctgggccacagcaa c.*1680
. . . . . . g.35231
cagcagtggtcaaatatctagatttattttgaaaagagccaataggatttgctgagagtt c.*1740
. . . . . . g.35291
tgaatgtggagtgtaagagaaggaagagttaatgatgacattaaggtttttggcctgaat c.*1800
. . . . . . g.35351
agcaggaaagatggagttaccagttactgaaatagggaaggatgggctgggtaagtatgg c.*1860
. . . . . . g.35411
aatttggtgcaaagcaggctgtctgtggttggaatgggaggttctggctgcaaatcaaag c.*1920
. . . . . . g.35471
tggagagttctctcaggtcaggtctgcagcagagctcgagacagggatctgaatgcactt c.*1980
. . . . . . g.35531
ggtttattgttgggggtgctctcagaaggaacctgtgaaagcctttatcagtcatttatt c.*2040
. . . . . . g.35591
ggctgtgagaagttctctgggagtgtgggtacatttgaaggcaagtgacttcagttgagg c.*2100
. . . . . . g.35651
gcaagtctctggaaaagaggctgtaggcatctggcagctaccatgcatggtagtgtgttg c.*2160
. . . . . . g.35711
ggggtgggggtcctgggcactggctgtgtgaagggatctggcagggcaccacagcgcccc c.*2220
. . . . . . g.35771
ctactgaaccatcagcatgtcagtggcatttaaagccatgcagctggaggggccactgag c.*2280
. . . . . . g.35831
attgtctctgagtattactgagaagcaacagaaaagagccatggatggagcccttgggct c.*2340
. . . . . . g.35891
ctctgggaaatgggaaatcagccaaaggactgagaaggagttaccttaaggtcagagaaa c.*2400
. . . . . . g.35951
accaagagagtgtggtgttctggaagctgagctttctttattcaacctcattcccttctc c.*2460
. . . . . . g.36011
caaataagccacttgtgtagttgggcccctccagggttgaaggcaagaggagaaaggcac c.*2520
. . . . . . g.36071
agcgtttgggaaacaagacttttcctgcaatagcctgggaaggaataaaaggatagagtg c.*2580
. . . . . . g.36131
tttgggtttttgtgtaatggtggttaattggggtggaacactcacacgttgtgctttttc c.*2640
. . . . . . g.36191
tgggcttcccttatcccccagaacactctaccaacctcggggaactcgggcacatccttc c.*2700
. . . . . . g.36251
tgtttctccttcagctctatcctgctttcctcatcccttctgacaccacgtcctcactca c.*2760
. . . . . . g.36311
cctgcacaagaatccctgcatcaggttctcctttgagggtacccacccaggacagtcccc c.*2820
. . . . . . g.36371
taccacttctgtcttgggctgaagttgcccacgtccacaaaatctgtactcccagcgggg c.*2880
. . . . . . g.36431
gtgtttggcccgaggagtcagtgttattactggtggatgcaccgtgtccacagcagcccc c.*2940
. . . . . . g.36491
caatcccagcgatgcgtcagatcttacgtggcttcctgctgggggagatggccttcaccc c.*3000
. . . . . . g.36551
acgggatgccgggttctcctttctttcctcaccccaacctttactccaccagagaaactt c.*3060
. . . . . . g.36611
ccttttgaactcagtggggaagagggtgatgagacaggactagaaagtagtgggggaccc c.*3120
. . . . . . g.36671
agcgagtggacgccctgctccgggattcctgagtctgtaaatagtgtgcccagcagctgt c.*3180
. . . . . . g.36731
gaactccccttatagcctcaggctgcagtgtccttcccagctgtgtgagaaaatgaaagc c.*3240
. . . . . . g.36791
cgacgtccacagggacccaggcagggttgggtgttgtgactcactccacctctgtgccct c.*3300
. . . . . . g.36851
gcagaggtactgttgggtccttgtcttgtgagcctggggtgagctctctgtacatgttgt c.*3360
. . . . . . g.36911
tgttccacgtatgggttgacttggcatgctggggggtcctcgttcactctctgaagttgg c.*3420
. . . . . . g.36971
cctcctttcactggggattgaaaagcacctccacccctaccctagtgatgtcccctgagg c.*3480
. . . . . . g.37031
acccgggtgatagtacagtcaatattgtcagtactttgctttgattgaaggctgtagagc c.*3540
. . . . . . g.37091
tgagttaccaaaatttctatttcaaaggaaaccaaaccttaaaaaaaaaaaacaaaaact c.*3600
. . . . . . g.37151
gggctgggtcttccaaacctaccatgaaaccctggtgtgcaggctgcactcaatgacctc c.*3660
. . . . . . g.37211
aacccaacacctccctgagtgtgcttcttggaagagcctagaagattcctggatggagac c.*3720
. . . . . . g.37271
cccattggttcagcctcaagtctggcccgtcttcgaaaaaacaaacacatttgtaagctt c.*3780
. . . . . . g.37331
tgtgggagcttccaggcctgctctaagatgccttgcttgtcctttgacccatcagcatgg c.*3840
. . . . . . g.37391
agctcagtggttgctgtttggttctgcaggctggtggggaggccgcccatcgtggtgggg c.*3900
. . . . . . g.37451
catctgtccagccccattgccactcagggcatccaaacaggaggcacccgctgggaaggg c.*3960
. . . . . . g.37511
tctaaagatactccttgtggccactgctactgttcacacttgacttgtggagaagcgaag c.*4020
. . . . . . g.37571
ggctgaggggaggtttgtgtacacccatgtatttaaaagtgactgactgactgaaatgag c.*4080
. . . . . . g.37631
cacataccgacatatgcaacatactaataccttcctgattttcgagactttctaattact c.*4140
. . . . . . g.37691
acaactaacctgttgtgctcacctctggaattcagaaagagagccactgcgagcactgac c.*4200
. . . . . . g.37751
cacaagggctgccttaggaaggaaatgtgtgctttcaggagttcttattaggggaatttt c.*4260
. . . . . . g.37811
aagagcacaaaaattttattgaacccaccttagtgacaaacagaaaatgatttgttagat c.*4320
. . . . . . g.37871
tgtcagttggaaggggtttattatgactgctggtgaaataaacagtgaccagtttctgcc c.*4380
. . . . . . g.37931
aacatttatggaaataacgtttctaggttttaaatgtgagccgtaaactgaagctacttc c.*4440
. . . . . . g.37991
agttaaaaaaaaaaaaatcaatacttaaactgtagggaaaaggtggattggtgccagaga c.*4500
. . . . . . g.38051
aaacattatttaatagtgtcagaacatggaactgcaacacagtttgtagcaaggcactga c.*4560
. . . . . . g.38111
gaaaaacccacaactaatccttcatcgcagctgtctgaactcttgatcatctgccatccc c.*4620
. . . . . . g.38171
ccaaacagtgacttctttttttctggtgactccaggcctgaatgacctagtgtggagagt c.*4680
. . . . . . g.38231
ttaaactatgtacaagggaggaaagaaaaaaaggaaaggaaccttaagtaagcctcagcc c.*4740
. . . . . . g.38291
aaaggttttatgcattggacttcctgtgcctgcccccaggggcaagactgatccccatgc c.*4800
. . . . . . g.38351
ctgtgcccatgacatctccctgaaagaggacaccatgacagcccggctttgccttgactg c.*4860
. . . . . . g.38411
acccactgctaccccagaaataagaatcaagagcagctattgttatccttagagtgtttt c.*4920
. . . . . . g.38471
ccgtctagggccggctcgtgaacagccacatatccttgcacctgacactgtccccacaca c.*4980
. . . . . . g.38531
aatagctggctttcgttgcttgttgaatgaatgagtgagttggctctatatccccttgga c.*5040
. . . . . . g.38591
gctggccggtaagatattagtgcctcattttacaagaagagaataggaaggaattaagca c.*5100
. . . . . . g.38651
atttggccaacagatacaagatagattccagagttttatctcccactttagggtggcagc c.*5160
. . . . . . g.38711
cagtaggccaaactccaaagaccgttgctgatgtctttttctgcctcccctctttgggtt c.*5220
. . . . . . g.38771
agtgtggtatgtacaagctcactcttgttgaaaattagaaaatagttgaaaacaaaaggt c.*5280
. . . . g.38816
ttttgtttttctttttaaatcacattaaatgttttacattgctta c.*5325
(downstream sequence)
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