(used for variant description)
(last modified August 30, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_001126105.2 in the SLC7A7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering SLC7A7 transcript NM_001126105.2.
(upstream sequence)
g.8915
aa c.-241
. . . . . . g.8975
tctcagcatgggaacaagcctttgtgtcacactgtgcaaccttcctccctttcttaaatg c.-181
. | 02 . . . . . g.9414
cttggg | gcatttgtctggccttcccttttactgctggctgggaaggaggagcatcagacc c.-121
. . . . . . g.9474
acagatcctggaaggcacttctctccctgactgctgctcacactgccgtgagaacctgct c.-61
. . | 03. . . . g.11413
tatatccaggaccaagga | ggcaatgccaggaagctggtgaagggtttcctctcctccacc c.-1
. . . . . . g.11473
ATGGTTGACAGCACTGAGTATGAAGTGGCCTCCCAGCCTGAGGTGGAAACCTCCCCTTTG c.60
M V D S T E Y E V A S Q P E V E T S P L p.20
. . . . . . g.11533
GGTGATGGGGCCAGCCCAGGGCCGGAGCAGGTGAAGCTGAAGAAGGAGATCTCACTGCTT c.120
G D G A S P G P E Q V K L K K E I S L L p.40
. . . . . . g.11593
AACGGCGTGTGCCTGATTGTGGGGAACATGATCGGCTCGGGCATCTTTGTTTCCCCCAAG c.180
N G V C L I V G N M I G S G I F V S P K p.60
. . . . . . g.11653
GGTGTGCTCATATACAGTGCCTCCTTTGGTCTCTCTCTGGTCATCTGGGCTGTCGGGGGC c.240
G V L I Y S A S F G L S L V I W A V G G p.80
. . . . . . g.11713
CTCTTCTCCGTCTTTGGGGCCCTTTGTTATGCGGAACTGGGCACCACCATTAAGAAATCT c.300
L F S V F G A L C Y A E L G T T I K K S p.100
. . . . . . g.11773
GGGGCCAGCTATGCCTATATCCTGGAGGCCTTTGGAGGATTCCTTGCTTTCATCAGACTC c.360
G A S Y A Y I L E A F G G F L A F I R L p.120
. . . . . . g.11833
TGGACCTCCCTGCTCATCATTGAGCCCACCAGCCAGGCCATCATTGCCATCACCTTTGCC c.420
W T S L L I I E P T S Q A I I A I T F A p.140
. . . . . . g.11893
AACTACATGGTACAGCCTCTCTTCCCGAGCTGCTTCGCCCCTTATGCTGCCAGCCGCCTG c.480
N Y M V Q P L F P S C F A P Y A A S R L p.160
. | 04 . . . . g.44801
CTGGCTGCTGCCTGCATTT | GTCTCTTAACCTTCATTAACTGTGCCTATGTCAAATGGGGA c.540
L A A A C I C | L L T F I N C A Y V K W G p.180
. . . . . . g.44861
ACCCTGGTACAAGATATTTTCACCTATGCTAAAGTATTGGCACTGATCGCGGTCATCGTT c.600
T L V Q D I F T Y A K V L A L I A V I V p.200
. . | 05 . . . . g.45909
GCAGGCATTGTTAGACTTGGCCAGG | GAGCCTCTACTCATTTTGAGAATTCCTTTGAGGGT c.660
A G I V R L G Q G | A S T H F E N S F E G p.220
. . . . . . g.45969
TCATCATTTGCAGTGGGTGACATTGCCCTGGCACTGTACTCAGCTCTGTTCTCCTACTCA c.720
S S F A V G D I A L A L Y S A L F S Y S p.240
. . . . . | 06 . g.48503
GGCTGGGACACCCTCAACTATGTCACTGAAGAGATCAAGAATCCTGAGAG | GAACCTGCCC c.780
G W D T L N Y V T E E I K N P E R | N L P p.260
. . . . . . g.48563
CTCTCCATTGGCATCTCCATGCCCATTGTCACCATCATCTATATCTTGACCAATGTGGCC c.840
L S I G I S M P I V T I I Y I L T N V A p.280
. . . . . | 07 . g.48881
TATTATACTGTGCTAGACATGAGAGACATCTTGGCCAGTGATGCTGTTGCTGTG | ACTTTT c.900
Y Y T V L D M R D I L A S D A V A V | T F p.300
. . . . . . g.48941
GCAGATCAGATATTTGGAATATTTAACTGGATAATTCCACTGTCAGTTGCATTATCCTGT c.960
A D Q I F G I F N W I I P L S V A L S C p.320
. . . | 08 . . g.49293
TTTGGTGGCCTCAATGCCTCCATTGTGGCTGCTTCTAG | GCTTTTCTTTGTGGGCTCAAGA c.1020
F G G L N A S I V A A S R | L F F V G S R p.340
. . . . . . g.49353
GAAGGCCATCTCCCTGATGCCATCTGCATGATCCATGTTGAGCGGTTCACACCAGTGCCT c.1080
E G H L P D A I C M I H V E R F T P V P p.360
. | 09 . . . . . g.50353
TCTCTGCTCTTCAAT | GGTATCATGGCATTGATCTACTTGTGCGTGGAAGACATCTTCCAG c.1140
S L L F N | G I M A L I Y L C V E D I F Q p.380
. . . . . . g.50413
CTCATTAACTACTACAGCTTCAGCTACTGGTTCTTTGTGGGGCTTTCTATTGTGGGTCAG c.1200
L I N Y Y S F S Y W F F V G L S I V G Q p.400
. . . . | 10 . . g.50710
CTTTATCTGCGCTGGAAGGAGCCTGATCGACCTCGTCCCCTCAAG | CTCAGCGTTTTCTTC c.1260
L Y L R W K E P D R P R P L K | L S V F F p.420
. . . . . . g.50770
CCGATTGTCTTCTGCCTCTGCACCATCTTCCTGGTGGCTGTTCCACTTTACAGTGATACT c.1320
P I V F C L C T I F L V A V P L Y S D T p.440
. . . . . . g.50830
ATCAACTCCCTCATCGGCATTGCCATTGCCCTCTCAGGCCTGCCCTTTTACTTCCTCATC c.1380
I N S L I G I A I A L S G L P F Y F L I p.460
. . . . | 11 . g.51106
ATCAGAGTGCCAGAACATAAGCGACCGCTTTACCTCCGAAGGATCGTGG | GGTCTGCCACA c.1440
I R V P E H K R P L Y L R R I V G | S A T p.480
. . . . . . g.51166
AGGTACCTCCAGGTCCTGTGTATGTCAGTTGCTGCAGAAATGGATTTGGAAGATGGAGGA c.1500
R Y L Q V L C M S V A A E M D L E D G G p.500
. . . g.51202
GAGATGCCCAAGCAACGGGATCCCAAATCTAACTAA c.1536
E M P K Q R D P K S N X p.511
. . . . . . g.51262
acaccatctggaatcctgatgtggaaagcaggggtttctggtctactggctagagctaag c.*60
. . . . . . g.51322
gaagttgaaaaggaaagctcacttctttggaggcacctgtccagaagcctggcctaggca c.*120
. . . . . . g.51382
gcttcaacctttgaacttactttttgaaatgaaaagtaatttatttgttttgctacatac c.*180
. . . . . . g.51442
tgttccagacttttaaaggggacaatgaaggtgactgtggggaggagcatgtcaggtttg c.*240
. . . . . . g.51502
ggcttggttgttttagaagcacctgggtgtgcctacctactcctcttttcttttaaaagg c.*300
. . . . . . g.51562
gcccacaatgctccaatttcctgtctcctttagagagacatgaaactatcacaggtgctg c.*360
. . g.51590
gatgacaataaaagtttatgttcctaaa c.*388
(downstream sequence)
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