(used for variant description)
(last modified May 27, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000782.4 in the CYP24A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008334.1, covering CYP24A1 transcript NM_000782.4.
(upstream sequence)
. . . g.5038
gacaggaggaaacgcagcgccagcagcatctcatctac c.-361
. . . . . . g.5098
cctccttgacacctccccgtggctccagccagaccctagaggtcagccttgcggaccaac c.-301
. . . . . . g.5158
aggaggactcccagctttcccttttcaagaggtccccagacaccggccaccctcttccag c.-241
. . . . . . g.5218
cccctgcggccagtgcaaggaggcaccaatgctctgaggctgtcgcgtggtgcagcgtcg c.-181
. . . . . . g.5278
agcatcctcgccgaggtcctttctgctgcctgtcccgcctcaccccgctccatcacacca c.-121
. . . . . . g.5338
gctggccctctttgcttccttttcccagaatcgttaagccccgactcccactagcacctc c.-61
. . . . . . g.5398
gtaccaacctcgccccaccccatcctcctgccttcccgcgctccggtgtcccccgctgcc c.-1
. . . . . . g.5458
ATGAGCTCCCCCATCAGCAAGAGCCGCTCGCTTGCCGCCTTCCTGCAGCAGCTGCGCAGT c.60
M S S P I S K S R S L A A F L Q Q L R S p.20
. . . . . . g.5518
CCGAGGCAGCCCCCGAGACTGGTGACATCTACGGCGTACACGTCCCCTCAGCCGCGAGAG c.120
P R Q P P R L V T S T A Y T S P Q P R E p.40
. . . . . . g.5578
GTGCCAGTCTGCCCGCTGACAGCTGGTGGCGAGACTCAGAACGCGGCCGCCCTGCCGGGC c.180
V P V C P L T A G G E T Q N A A A L P G p.60
. . . . . . g.5638
CCCACCAGCTGGCCACTGCTGGGCAGCCTGCTGCAGATTCTCTGGAAAGGGGGTCTCAAG c.240
P T S W P L L G S L L Q I L W K G G L K p.80
. | 02 . . . . g.5920
AAACAGCACGACACCCTG | GTGGAGTACCACAAGAAGTATGGCAAGATTTTCCGCATGAAG c.300
K Q H D T L | V E Y H K K Y G K I F R M K p.100
. . . . . . g.5980
TTGGGTTCCTTTGAGTCGGTGCACCTGGGCTCGCCATGCCTGCTGGAAGCGCTGTACCGC c.360
L G S F E S V H L G S P C L L E A L Y R p.120
. . . . . . g.6040
ACCGAGAGCGCGTACCCGCAGCGGCTGGAGATCAAACCGTGGAAGGCCTATCGCGACTAC c.420
T E S A Y P Q R L E I K P W K A Y R D Y p.140
. . | 03 . . . g.7338
CGCAAAGAAGGCTACGGGCTGCTGATCCT | GGAAGGGGAAGACTGGCAGCGGGTCCGGAGT c.480
R K E G Y G L L I L | E G E D W Q R V R S p.160
. . . . . . g.7398
GCCTTTCAAAAGAAACTAATGAAACCAGGGGAAGTGATGAAGCTGGACAACAAAATCAAT c.540
A F Q K K L M K P G E V M K L D N K I N p.180
| 04 . . . . . . g.9346
GAG | GTCTTGGCCGATTTTATGGGCAGAATAGATGAGCTCTGTGATGAAAGAGGCCACGTT c.600
E | V L A D F M G R I D E L C D E R G H V p.200
. . . . | 05 . . g.13164
GAAGACTTGTACAGCGAACTGAACAAATGGTCGTTTGAAA | GTATCTGCCTCGTGTTGTAT c.660
E D L Y S E L N K W S F E S | I C L V L Y p.220
. . . . . . g.13224
GAGAAGAGATTTGGGCTTCTCCAGAAGAATGCAGGGGATGAAGCTGTGAACTTCATCATG c.720
E K R F G L L Q K N A G D E A V N F I M p.240
. | 06 . . . . . g.14462
GCCATCAAAACA | ATGATGAGCACGTTTGGGAGGATGATGGTCACTCCAGTCGAGCTGCAC c.780
A I K T | M M S T F G R M M V T P V E L H p.260
. . . . . . g.14522
AAGAGCCTCAACACCAAGGTCTGGCAGGACCACACTCTGGCCTGGGACACCATTTTCAAA c.840
K S L N T K V W Q D H T L A W D T I F K p.280
| 07 . . . . . . g.16171
TCAG | TCAAAGCTTGTATCGACAACCGGTTAGAGAAGTATTCTCAGCAGCCTAGTGCAGAT c.900
S V | K A C I D N R L E K Y S Q Q P S A D p.300
. . . . . . g.16231
TTCCTTTGTGACATTTATCACCAGAATCGGCTTTCAAAGAAAGAATTGTATGCTGCTGTC c.960
F L C D I Y H Q N R L S K K E L Y A A V p.320
. . . | 08 . . . g.19884
ACAGAGCTCCAGCTGGCTGCGGTGGAAACG | ACAGCAAACAGTCTAATGTGGATTCTCTAC c.1020
T E L Q L A A V E T | T A N S L M W I L Y p.340
. . . . . . g.19944
AATTTATCCCGTAATCCCCAAGTGCAACAAAAGCTTCTTAAGGAAATTCAAAGTGTATTA c.1080
N L S R N P Q V Q Q K L L K E I Q S V L p.360
. . . . . . g.20004
CCTGAGAATCAGGTGCCACGGGCAGAAGATTTGAGGAATATGCCGTATTTAAAAGCCTGT c.1140
P E N Q V P R A E D L R N M P Y L K A C p.380
. | 09. . . . . g.20856
CTGAAAGAATCTATGAG | GCTTACGCCGAGTGTACCATTTACAACTCGGACTCTTGACAAG c.1200
L K E S M R | L T P S V P F T T R T L D K p.400
. . . | 10 . . . g.21416
GCAACAGTTCTGGGTGAATATGCTTTACCCAAAGGA | ACAGTGCTCATGCTAAATACCCAG c.1260
A T V L G E Y A L P K G | T V L M L N T Q p.420
. . . . . . g.21476
GTGTTGGGATCCAGTGAAGACAATTTTGAAGATTCAAGTCAGTTTAGACCTGAACGTTGG c.1320
V L G S S E D N F E D S S Q F R P E R W p.440
. . . . . . g.21536
CTTCAGGAGAAGGAAAAAATTAATCCTTTTGCGCATCTTCCATTTGGCGTTGGAAAAAGA c.1380
L Q E K E K I N P F A H L P F G V G K R p.460
. . . . . | 11 . g.21694
ATGTGCATTGGTCGCCGATTAGCAGAGCTTCAACTGCATTTGGCTCTTTGTTGG | ATTGTC c.1440
M C I G R R L A E L Q L H L A L C W | I V p.480
. . . . . . g.21754
CGCAAATACGACATCCAGGCCACAGACAATGAGCCTGTTGAGATGCTACACTCAGGCACC c.1500
R K Y D I Q A T D N E P V E M L H S G T p.500
. . . . g.21799
CTGGTGCCCAGCCGGGAACTCCCCATCGCGTTTTGCCAGCGATAA | c.1546
L V P S R E L P I A F C Q R X p.514
. | 12 . . . . . g.24266
tacgcctcag | atggtggtatttgctaacatcatatccaactcagggaagcggactgagtg c.*60
. . . . . . g.24326
ctgggatccaaggcattctacagggttcactgctggtttacacttcacctgtgtcagcac c.*120
. . . . . . g.24386
catcttcaggtgcttagaatggcctgggagcctgttctgtcttgcatcttccatgacatg c.*180
. . . . . . g.24446
aaagggaggctggcacttgtcagtcaggtagaggttacaaaccgtttcaggccctgccta c.*240
. . . . . . g.24506
ccacattcactgtttgaatctttaattcccaagaataagtttacatttcacaatgaatga c.*300
. . . . . . g.24566
cctacaacagctaaattttctggggctgggagtaatactgacaatccatttactgtagct c.*360
. . . . . . g.24626
ctgcttaatgtactacttaggaaaatgtccctgcttaataatgtaagccaagctaaatga c.*420
. . . . . . g.24686
tggttaaagttatcaggcctcccatgaaattgcgttcttcctgcattgaaataaaaacat c.*480
. . . . . . g.24746
tattgggaaactagagaacacctctatttttaaaaggactttaacgaagtcaaacaactt c.*540
. . . . . . g.24806
ataagactagtgattcactggggcattattttgttagaggaccttaaaattgtttatttt c.*600
. . . . . . g.24866
ttaaatgtgattcctttatggcattagggtaaagatgaagcaataatttttaaattgtgt c.*660
. . . . . . g.24926
atgtgcatatgaagcacagacatgcatgtgtgtgtgtgtctgtgtgtgtgtgtccgtgta c.*720
. . . . . . g.24986
tgtgtgtgtgggttctaatggtaatttgcctcagtcatttttttaatatttgcagtactt c.*780
. . . . . . g.25046
gatttaggatctgtggtgcagggcaatgtttcaaagtttagtcacagcttaaaaacattc c.*840
. . . . . . g.25106
agtgtgactttaatattataaaatgatttcccatgccataatttttctgtctattaaatg c.*900
. . . . . . g.25166
ggacaagtgtaaagcatgcaaaagttagagatctgttatataacatttgttttgtgattt c.*960
. . . . . . g.25226
gaactcctaggaaaaatatgatttcataaatgtaaaatgcacagaaatgcatgcaatact c.*1020
. . . . . . g.25286
tataagacttaaaaattgtgtttacagatggtttatttgtgcatatttttactactgctt c.*1080
. . . . . . g.25346
ttcctaaatgcatactgtatataattctgtgtatttgataaatatttcttcctacattat c.*1140
. . . . . . g.25406
atttttagaatatttcagaaatatacatttatgtctttatattgtaataaatatgtacat c.*1200
. . . . . . g.25466
atctaggtatatgctttctctctgctgtgaaattatttttagaattataaattcacgtct c.*1260
. . . . . . g.25526
tgtcagatttcatctgtataccttcaaattctctgaaagtaaaaataaaagtttttaaat c.*1320
g.25529
att c.*1323
(downstream sequence)
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