(used for variant description)
(last modified December 22, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_183374.2 in the CYP26C1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007958.1, covering CYP26C1 transcript NM_183374.2.
(upstream sequence)
. . . . . . g.60
ATGTTCCCTTGGGGGCTGAGCTGCCTGTCAGTGCTGGGGGCGGCGGGCACTGCTCTCCTG c.60
M F P W G L S C L S V L G A A G T A L L p.20
. . . . . . g.120
TGCGCGGGCCTGCTGCTCAGCCTGGCCCAGCACCTCTGGACCCTCCGCTGGATGCTGAGC c.120
C A G L L L S L A Q H L W T L R W M L S p.40
. . . . . . g.180
CGGGACCGGGCCTCCACCCTGCCTCTGCCCAAGGGCTCCATGGGGTGGCCCTTCTTCGGC c.180
R D R A S T L P L P K G S M G W P F F G p.60
. . | 02 . . . . g.782
GAAACGCTGCACTGGTTAGTTCAG | GGCTCGCGCTTCCACAGTTCTCGCCGAGAGCGCTAT c.240
E T L H W L V Q | G S R F H S S R R E R Y p.80
. . . . . . g.842
GGGACAGTGTTCAAGACGCACCTGCTGGGCAGGCCAGTGATCCGCGTGAGCGGCGCGGAG c.300
G T V F K T H L L G R P V I R V S G A E p.100
. . . . . . g.902
AACGTGCGCACCATCCTGCTGGGCGAGCACCGCCTGGTGCGCAGCCAGTGGCCGCAGAGT c.360
N V R T I L L G E H R L V R S Q W P Q S p.120
. . . . . . g.962
GCGCACATCCTGCTGGGCTCGCACACACTGCTAGGTGCGGTCGGCGAGCCGCACCGGCGG c.420
A H I L L G S H T L L G A V G E P H R R p.140
| 03 . . . . . g.1507
CGGCGCAAG | GTCCTGGCGCGCGTGTTCAGCCGCGCCGCGCTGGAGCGCTACGTGCCGCGC c.480
R R K | V L A R V F S R A A L E R Y V P R p.160
. . . . . . g.1567
CTGCAGGGGGCGCTGCGGCATGAGGTGCGCTCCTGGTGCGCGGCGGGCGGGCCGGTCTCA c.540
L Q G A L R H E V R S W C A A G G P V S p.180
. . . . . . g.1627
GTCTACGACGCCTCCAAAGCGCTCACCTTCCGCATGGCCGCGCGCATCCTGCTGGGGTTG c.600
V Y D A S K A L T F R M A A R I L L G L p.200
. . . . . . g.1687
CGGCTGGACGAGGCGCAGTGCGCCACGCTGGCCCGGACCTTCGAGCAGCTCGTGGAGAAC c.660
R L D E A Q C A T L A R T F E Q L V E N p.220
. . . . | 04 . . g.3132
CTCTTCTCACTGCCTCTGGACGTTCCCTTCAGTGGCCTACGCAAG | GGCATCCGGGCAAGG c.720
L F S L P L D V P F S G L R K | G I R A R p.240
. . . . . . g.3192
GACCAGCTGCATCGGCACCTGGAGGGGGCCATTTCTGAGAAGCTTCACGAGGACAAGGCT c.780
D Q L H R H L E G A I S E K L H E D K A p.260
. . . . . . g.3252
GCAGAGCCGGGTGATGCCCTCGACCTAATCATTCACAGTGCAAGGGAGCTGGGCCATGAG c.840
A E P G D A L D L I I H S A R E L G H E p.280
. . | 05 . . . . g.4731
CCCTCCATGCAGGAGCTGAAG | GAGTCGGCTGTGGAGCTCCTCTTCGCCGCCTTCTTCACC c.900
P S M Q E L K | E S A V E L L F A A F F T p.300
. . . . . . g.4791
ACGGCCAGTGCCAGCACCTCGCTCGTCCTGCTGCTACTGCAGCATCCGGCGGCCATCGCC c.960
T A S A S T S L V L L L L Q H P A A I A p.320
. . . . . . g.4851
AAGATTCGGGAGGAGCTGGTGGCGCAGGGGCTGGGGCGCGCGTGCGGCTGCGCGCCCGGG c.1020
K I R E E L V A Q G L G R A C G C A P G p.340
. . . . . . g.4911
GCCGCTGGGGGCAGCGAGGGGCCCCCGCCCGACTGCGGCTGCGAGCCCGACCTCAGCCTC c.1080
A A G G S E G P P P D C G C E P D L S L p.360
. . . . . . g.4971
GCGGCGCTGGGCCGTCTGCGCTACGTCGACTGCGTGGTCAAGGAGGTGCTGCGCCTCCTG c.1140
A A L G R L R Y V D C V V K E V L R L L p.380
. . . . . | 06 . g.7065
CCGCCAGTGTCCGGGGGCTACCGCACCGCCCTGCGCACCTTCGAGCTCGAC | GGCTACCAG c.1200
P P V S G G Y R T A L R T F E L D | G Y Q p.400
. . . . . . g.7125
ATCCCCAAGGGCTGGAGCGTGATGTATAGCATCCGGGACACGCACGAGACGGCTGCGGTG c.1260
I P K G W S V M Y S I R D T H E T A A V p.420
. . . . . . g.7185
TACCGCAGCCCTCCCGAAGGCTTCGATCCAGAGCGCTTCGGCGCAGCGCGCGAAGATTCC c.1320
Y R S P P E G F D P E R F G A A R E D S p.440
. . . . . . g.7245
CGGGGCGCCTCCAGCCGCTTCCATTACATCCCGTTCGGCGGCGGTGCGCGCAGCTGCCTC c.1380
R G A S S R F H Y I P F G G G A R S C L p.460
. . . . . . g.7305
GGCCAGGAGCTGGCGCAAGCCGTGCTCCAGCTGCTAGCTGTGGAGCTAGTGCGCACCGCG c.1440
G Q E L A Q A V L Q L L A V E L V R T A p.480
. . . . . . g.7365
CGCTGGGAACTGGCCACACCCGCCTTCCCCGCCATGCAGACGGTGCCCATCGTGCACCCA c.1500
R W E L A T P A F P A M Q T V P I V H P p.500
. . . . . . g.7425
GTGGACGGGCTGCGGCTCTTTTTCCACCCCCTCACGCCTTCGGTTGCGGGGAATGGGCTA c.1560
V D G L R L F F H P L T P S V A G N G L p.520
g.7434
TGCCTCTGA c.1569
C L X p.522
(downstream sequence)
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