(used for variant description)
(last modified August 25, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000102.3 in the CYP17A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007955.1, covering CYP17A1 transcript NM_000102.3.
(upstream sequence)
. . . . . g.5052
atatgagctcaggcctggctgggctccaggagaatctttccacaaggcaaga c.-121
. . . . . . g.5112
gataacacaaagtcaaggtgaagatcagggtagccctttaaaaggcctccttgtgcccta c.-61
. . . . . . g.5172
gagttgccacagctcttctactccactgctgtctatcttgcctgccggcacccagccacc c.-1
. . . . . . g.5232
ATGTGGGAGCTCGTGGCTCTCTTGCTGCTTACCCTAGCTTATTTGTTTTGGCCCAAGAGA c.60
M W E L V A L L L L T L A Y L F W P K R p.20
. . . . . . g.5292
AGGTGCCCTGGTGCCAAGTACCCCAAGAGCCTCCTGTCCCTGCCCCTGGTGGGCAGCCTG c.120
R C P G A K Y P K S L L S L P L V G S L p.40
. . . . . . g.5352
CCATTCCTCCCCAGACACGGCCATATGCATAACAACTTCTTCAAGCTGCAGAAAAAATAT c.180
P F L P R H G H M H N N F F K L Q K K Y p.60
. . . . . . g.5412
GGCCCCATCTATTCGGTTCGTATGGGCACCAAGACTACAGTGATTGTCGGCCACCACCAG c.240
G P I Y S V R M G T K T T V I V G H H Q p.80
. . . . . | 02. g.7144
CTGGCCAAGGAGGTGCTTATTAAGAAGGGCAAGGACTTCTCTGGGCGGCCTCAAATG | GCA c.300
L A K E V L I K K G K D F S G R P Q M | A p.100
. . . . . . g.7204
ACTCTAGACATCGCGTCCAACAACCGTAAGGGTATCGCCTTCGCTGACTCTGGCGCACAC c.360
T L D I A S N N R K G I A F A D S G A H p.120
. . . . . . g.7264
TGGCAGCTGCATCGAAGGCTGGCGATGGCCACCTTTGCCCTGTTCAAGGATGGCGATCAG c.420
W Q L H R R L A M A T F A L F K D G D Q p.140
. | 03 . . . . . g.7563
AAGCTGGAGAAGATCA | TTTGTCAGGAAATCAGTACATTGTGTGATATGCTGGCCACCCAC c.480
K L E K I I | C Q E I S T L C D M L A T H p.160
. . . . . . g.7623
AACGGACAGTCCATAGACATCTCCTTTCCTGTCTTCGTGGCGGTAACCAATGTCATCTCC c.540
N G Q S I D I S F P V F V A V T N V I S p.180
. . . . . . g.7683
TTGATCTGCTTCAATACCTCCTACAAGAATGGGGACCCTGAGTTGAATGTCATACAGAAT c.600
L I C F N T S Y K N G D P E L N V I Q N p.200
. . . . . . g.7743
TACAATGAAGGCATCATAGACAACCTGAGCAAAGACAGCCTGGTGGACCTAGTCCCCTGG c.660
Y N E G I I D N L S K D S L V D L V P W p.220
| 04 . . . . . . g.8465
TTGAAG | ATTTTCCCCAACAAAACCCTGGAAAAATTAAAGAGCCATGTTAAAATACGAAAT c.720
L K | I F P N K T L E K L K S H V K I R N p.240
. . . | 05 . . . g.9352
GATCTGCTGAATAAAATACTTGAAAATTACAAG | GAGAAATTCCGGAGTGACTCTATCACC c.780
D L L N K I L E N Y K | E K F R S D S I T p.260
. . . . . . g.9412
AACATGCTGGACACACTGATGCAAGCCAAGATGAACTCAGATAATGGCAATGCTGGCCCA c.840
N M L D T L M Q A K M N S D N G N A G P p.280
. . . . . . g.9472
GATCAAGACTCAGAGCTGCTTTCAGATAACCACATTCTCACCACCATAGGGGACATCTTT c.900
D Q D S E L L S D N H I L T T I G D I F p.300
. . . . . . g.9532
GGGGCTGGCGTGGAGACCACCACCTCTGTGGTTAAATGGACCCTGGCCTTCCTGCTGCAC c.960
G A G V E T T T S V V K W T L A F L L H p.320
| 06 . . . . . g.9904
AATCCTCAG | GTGAAGAAGAAGCTCTACGAGGAGATTGACCAGAATGTGGGTTTCAGCCGC c.1020
N P Q | V K K K L Y E E I D Q N V G F S R p.340
. . . . . . g.9964
ACACCAACTATCAGTGACCGTAACCGTCTCCTCCTGCTGGAGGCCACCATCCGAGAGGTG c.1080
T P T I S D R N R L L L L E A T I R E V p.360
. . . . . | 07 g.10923
CTTCGCCTCAGGCCCGTGGCCCCTATGCTCATCCCCCACAAGGCCAACGTTGACTCCAG | C c.1140
L R L R P V A P M L I P H K A N V D S S | p.380
. . . . . . g.10983
ATCGGTGAGTTTGCTGTGGACAAGGGCACAGAAGTTATCATCAATCTGTGGGCGCTGCAT c.1200
I G E F A V D K G T E V I I N L W A L H p.400
. . . . | 08 . . g.11565
CACAATGAGAAGGAGTGGCACCAGCCGGATCAGTTCATGCCTG | AGCGTTTCTTGAATCCA c.1260
H N E K E W H Q P D Q F M P E | R F L N P p.420
. . . . . . g.11625
GCGGGGACCCAGCTCATCTCACCGTCAGTAAGCTATTTGCCCTTCGGAGCAGGACCTCGC c.1320
A G T Q L I S P S V S Y L P F G A G P R p.440
. . . . . . g.11685
TCCTGTATAGGTGAGATCCTGGCCCGCCAGGAGCTCTTCCTCATCATGGCCTGGCTGCTG c.1380
S C I G E I L A R Q E L F L I M A W L L p.460
. . . . . . g.11745
CAGAGGTTCGACCTGGAGGTGCCAGATGATGGGCAGCTGCCCTCCCTGGAAGGCATCCCC c.1440
Q R F D L E V P D D G Q L P S L E G I P p.480
. . . . . . g.11805
AAGGTGGTCTTTCTGATCGACTCTTTCAAAGTGAAGATCAAGGTGCGCCAGGCCTGGAGG c.1500
K V V F L I D S F K V K I K V R Q A W R p.500
. . g.11832
GAAGCCCAGGCTGAGGGTAGCACCTAA c.1527
E A Q A E G S T X p.508
. . . . . . g.11892
aggctgtaactcacagcccctgtccaccctatgtggccccacaacacagatttagagata c.*60
. . . . . . g.11952
caaccccccacccttctccgccattcttccctactcccaacccactctgccttctttttc c.*120
. . . . . g.12003
agcttgtggcaatgccagtgatgtgcataaacagtttttttttttccataa c.*171
(downstream sequence)
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