(used for variant description)
(last modified November 13, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_207352.3 in the CYP4V2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007965.1, covering CYP4V2 transcript NM_207352.3.
(upstream sequence)
g.5004
gggc c.-301
. . . . . . g.5064
ctccagtgcaatcactacgccctggggcccggaaaccgttttccggtctttcgctttcgg c.-241
. . . . . . g.5124
ctggggcgtggaggccgcggtgctgcgtaggccgggccgggcgcaggaacagccccgtgg c.-181
. . . . . . g.5184
cgccctctctggccgccgcccgggcgggaaacgtcgttccggggaccgggcgaccccgca c.-121
. . . . . . g.5244
gcggggagcgcgccaggtccgcgcggggaagtgggcggtgtgcggccggcaccgcctcgc c.-61
. . . . . . g.5304
accacgcccccgcgggcccgcactttcccggagtgcaccccgcggccgccagccggggcg c.-1
. . . . . . g.5364
ATGGCGGGGCTCTGGCTGGGGCTCGTGTGGCAGAAGCTGCTGCTGTGGGGCGCGGCGAGT c.60
M A G L W L G L V W Q K L L L W G A A S p.20
. . . . . . g.5424
GCCCTTTCCCTGGCCGGCGCCAGTCTGGTCCTGAGCCTGCTGCAGAGGGTGGCGAGCTAC c.120
A L S L A G A S L V L S L L Q R V A S Y p.40
. . . . . . g.5484
GCGCGGAAATGGCAGCAGATGCGGCCCATCCCCACGGTGGCCCGCGCCTACCCACTGGTG c.180
A R K W Q Q M R P I P T V A R A Y P L V p.60
. . . | 02 . . . g.8006
GGCCACGCGCTGCTGATGAAGCCGGACGGGCGAG | AATTTTTTCAGCAGATCATTGAGTAC c.240
G H A L L M K P D G R E | F F Q Q I I E Y p.80
. . . . . . g.8066
ACAGAGGAATACCGCCACATGCCGCTGCTGAAGCTCTGGGTCGGGCCAGTGCCCATGGTG c.300
T E E Y R H M P L L K L W V G P V P M V p.100
. . | 03. . . . g.9516
GCCCTTTATAATGCAGAAAATGTGGAG | GTAATTTTAACTAGTTCAAAGCAAATTGACAAA c.360
A L Y N A E N V E | V I L T S S K Q I D K p.120
. . . . . | 04 . g.10427
TCCTCTATGTACAAGTTTTTAGAACCATGGCTTGGCCTAGGACTTCTTACAAG | TACTGGA c.420
S S M Y K F L E P W L G L G L L T S | T G p.140
. . . . . . g.10487
AACAAATGGCGCTCCAGGAGAAAGATGTTAACACCCACTTTCCATTTTACCATTCTGGAA c.480
N K W R S R R K M L T P T F H F T I L E p.160
. . . . . . g.10547
GATTTCTTAGATATCATGAATGAACAAGCAAATATATTGGTTAAGAAACTTGAAAAACAC c.540
D F L D I M N E Q A N I L V K K L E K H p.180
. . . . . . g.10607
ATTAACCAAGAAGCATTTAACTGCTTTTTTTACATCACTCTTTGTGCCTTAGATATCATC c.600
I N Q E A F N C F F Y I T L C A L D I I p.200
| 05 . . . . . . g.11069
TGTG | AAACAGCTATGGGGAAGAATATTGGTGCTCAAAGTAATGATGATTCCGAGTATGTC c.660
C E | T A M G K N I G A Q S N D D S E Y V p.220
. | 06 . . . . . g.12483
CGTGCAGTTTATAG | AATGAGTGAGATGATATTTCGAAGAATAAAGATGCCCTGGCTTTGG c.720
R A V Y R | M S E M I F R R I K M P W L W p.240
. . . . . . g.12543
CTTGATCTCTGGTACCTTATGTTTAAAGAAGGATGGGAACACAAAAAGAGCCTTCAGATC c.780
L D L W Y L M F K E G W E H K K S L Q I p.260
. . | 07 . . . . g.14676
CTACATACTTTTACCAACAGT | GTCATCGCTGAACGGGCCAATGAAATGAACGCCAATGAA c.840
L H T F T N S | V I A E R A N E M N A N E p.280
. . . . . . g.14736
GACTGTAGAGGTGATGGCAGGGGCTCTGCCCCCTCCAAAAATAAACGCAGGGCCTTTCTT c.900
D C R G D G R G S A P S K N K R R A F L p.300
. . . . . . g.14796
GACTTGCTTTTAAGTGTGACTGATGACGAAGGGAACAGGCTAAGTCATGAAGATATTCGA c.960
D L L L S V T D D E G N R L S H E D I R p.320
. . | 08. . . . g.18713
GAAGAAGTTGACACCTTCATGTTTGAG | GGGCACGATACAACTGCAGCTGCAATAAACTGG c.1020
E E V D T F M F E | G H D T T A A A I N W p.340
. . . . . . g.18773
TCCTTATACCTGTTGGGTTCTAACCCAGAAGTCCAGAAAAAAGTGGATCATGAATTGGAT c.1080
S L Y L L G S N P E V Q K K V D H E L D p.360
. | 09 . . . . . g.22395
GACGTGTTTG | GGAAGTCTGACCGTCCCGCTACAGTAGAAGACCTGAAGAAACTTCGGTAT c.1140
D V F G | K S D R P A T V E D L K K L R Y p.380
. . . . . . g.22455
CTGGAATGTGTTATTAAGGAGACCCTTCGCCTTTTTCCTTCTGTTCCTTTATTTGCCCGT c.1200
L E C V I K E T L R L F P S V P L F A R p.400
. . | 10 . . . . g.22608
AGTGTTAGTGAAGATTGTGAAGTGG | CAGGTTACAGAGTTCTAAAAGGCACTGAAGCCGTC c.1260
S V S E D C E V A | G Y R V L K G T E A V p.420
. . . . . . g.22668
ATCATTCCCTATGCATTGCACAGAGATCCGAGATACTTCCCCAACCCCGAGGAGTTCCAG c.1320
I I P Y A L H R D P R Y F P N P E E F Q p.440
. . . . . . g.22728
CCTGAGCGGTTCTTCCCCGAGAATGCACAAGGGCGCCATCCATATGCCTACGTGCCCTTC c.1380
P E R F F P E N A Q G R H P Y A Y V P F p.460
. . | 11 . . . . g.23984
TCTGCTGGCCCCAGGAACTGTATAG | GTCAAAAGTTTGCTGTGATGGAAGAAAAGACCATT c.1440
S A G P R N C I G | Q K F A V M E E K T I p.480
. . . . . . g.24044
CTTTCGTGCATCCTGAGGCACTTTTGGATAGAATCCAACCAGAAAAGAGAAGAGCTTGGT c.1500
L S C I L R H F W I E S N Q K R E E L G p.500
. . . . . . g.24104
CTAGAAGGACAGTTGATTCTTCGTCCAAGTAATGGCATCTGGATCAAGTTGAAGAGGAGA c.1560
L E G Q L I L R P S N G I W I K L K R R p.520
. g.24122
AATGCAGATGAACGCTAA c.1578
N A D E R X p.525
. . . . . . g.24182
ctatattattgggttgtgcctttatcatgagaaaggtctttattttaagagatccttgtc c.*60
. . . . . . g.24242
atttacaatttacagatcatgagttcaatatgcttgaatcccctagacctaatttttcct c.*120
. . . . . . g.24302
tgatcccactgatcttgacatcaagtctaacaaagaaaaagttttgagttttgtattttc c.*180
. . . . . . g.24362
ttttttcttttttctttattttttttttttgaaaccgtgtctcactctgtcgcccaggct c.*240
. . . . . . g.24422
ggaggagtgcagtggtgtgatctcagctcactgcaacctccacctcccaggttcaagcaa c.*300
. . . . . . g.24482
ttcttctgcctcagcctcccaagtagctgggattacaggtgcctgccaccatgcctggct c.*360
. . . . . . g.24542
aatttttttgtatttttagtagaaacagggtgtcaccatgttggccagactggtctcaaa c.*420
. . . . . . g.24602
ctcctgacctcaagtgatccacctgcctcagcctcccaaagtgctgggattatagtcgtg c.*480
. . . . . . g.24662
agccaccacgcctggccagagttttttatttttatcaccaccatagatgttacagttggc c.*540
. . . . . . g.24722
tgtggtcacaaaagtagttaattgtgtcagcacccaaataaacatctaacaggtttctca c.*600
. . . . . . g.24782
acagaggaatccacagtccaattccacttcaattgatagacccaaaaaatataatttaat c.*660
. . . . . . g.24842
caaagttctagagtttttgtttgtttgtttgagatggagtcttgctctgtcgcccaggct c.*720
. . . . . . g.24902
ggaacgcagtggtgacatctcggctcactgcaacctccacctcccaggttcaagtgattc c.*780
. . . . . . g.24962
tcctgcctcagcctcctgagtagctgggactacaggcgcctgccaccacgcccagctaat c.*840
. . . . . . g.25022
ttttgtatttttagtagagatggggtttcaccatgttggccaggatggtcttgatctctt c.*900
. . . . . . g.25082
gacctcgtgatctgcctgcctcggcctcccaaagtgctggcattacaggcatgagccacc c.*960
. . . . . . g.25142
atgcctggcccaaagttctagaattttttaaaggtattcatggtgactcaggaatacaca c.*1020
. . . . . . g.25202
catacacacacacacacacacacacacacacacacatacacacatataatttgaaagagg c.*1080
. . . . . . g.25262
tgagtatgtactctgacttcagctctcaggttttaaaaattatattagtgggaccagtta c.*1140
. . . . . . g.25322
tgacaagaataatcattatagtacttttcagattttataacctggagcagattattttaa c.*1200
. . . . . . g.25382
gttgattagtaggttctgttacagtttttcttttgatcgtgcacttatagtcttcattta c.*1260
. . . . . . g.25442
attcctcatagaatcccagtcacctttatatatcatattattggaagagattcatcttca c.*1320
. . . . . . g.25502
taatctccagttttttcacagtgcctcacagagttaatcatgccttttggagctagaagg c.*1380
. . . . . . g.25562
actttagaacttatctagttatgctcctttatattataagtaagggaatagaatcaataa c.*1440
. . . . . . g.25622
gacagtttctgcccaaagtcatgttaccagttggtgacagagctggaaatacgtagagat c.*1500
. . . . . . g.25682
ctatacccttaaatctctccactcacatgctgatatactttctactacaatatgctatag c.*1560
. . . . . . g.25742
ctttatggaactcagggtgatgatcagacgtgtcattagaacatgagtcctctgcttctg c.*1620
. . . . . . g.25802
attcaggcatacttttgggattcttccatctttaaaggaaaaaggaagccattcatctat c.*1680
. . . . . . g.25862
atttagtaacccagtaatatctcacttagtttagggttagatctttagttaattcaacct c.*1740
. . . . . . g.25922
tatagatcatacttatgaaggtgataactgacacgtgttcactgaattttaatttgatag c.*1800
. . . . . . g.25982
gcaatacatctacccactccattattttttaaaacttcatttaatagtttaaacaagatt c.*1860
. . . . . . g.26042
ggttttgttttcaatttttattcactcttcatagaatcacaattacctttatatatcata c.*1920
. . . . . . g.26102
tgttattggaagagattcctcagtaatctccaatctctcatagtgcctcacagggttggt c.*1980
. . . . . . g.26162
caatggcttttggaactggaaggaccttagaacttatctgttatgctcctgatagccaat c.*2040
. . . . . . g.26222
agcagatagaagcttgcaatcaagagggtaggacatgtgttcttcaatggatatcaaagg c.*2100
. . . . . . g.26282
aagaggttgcaaaccaaagccatttggcaagccctgtagcctgggccatttaagacaggg c.*2160
. . . . . . g.26342
gcggtctcagccaaattgcacccatttaactatcccaaagagccacagtgcctacaaccc c.*2220
. . . . . . g.26402
aggccctaagttgatgaagaaaaagtcaaggaaggaggtgatacaattggaaatattccc c.*2280
. . . . . . g.26462
atcaaatggttaatcttatttagaaaatgggcatattagaaaaagtccttccaagatgat c.*2340
. . . . . . g.26522
tttggataataaaagttgtatttgtggaaattggtattatctctgttttatgcacttaca c.*2400
. . . . . . g.26582
tttatcccttacattttgtttttagtgaccctacatgacattaaatttaaagtaaaacat c.*2460
. . . . . . g.26642
tgtttaatgttaccttttggcttgagaatgtctttcagctccagaattattgttactcat c.*2520
. . . . . . g.26702
attttaatcagtaagtcatttaagctatgacagagtaggaattgagaaattatttcatat c.*2580
. . . . . . g.26762
gctacagtattgaaatgtggatgctgccttgttttataagaagatgatcaaggtttgtgt c.*2640
. . . . . . g.26822
gcccattacctttcctctgcctgaaagacgtgtctcaagaaaaataaattctattttaga c.*2700
. . . . . . g.26882
tgcaggtactgcattttattctaagaattgatatcaattcaaaacatagaaaactgtaaa c.*2760
. . . . . . g.26942
agataaatcaggagatggctgattcataatgggtaataaaataaatagcactttcgagct c.*2820
g.26944
ga c.*2822
(downstream sequence)
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