(used for variant description)
(last modified May 18, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_003060.3 in the SLC22A5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008982.1, covering SLC22A5 transcript NM_003060.3.
(upstream sequence)
. . g.5024
cgccttcgccggcgccgctctgcc c.-241
. . . . . . g.5084
tgccagcggggcgcgccttgcggcccaggcccgcaaccttccctggtcgtgcgccctatg c.-181
. . . . . . g.5144
taaggccagccgcggcaggaccaaggcggcggtgtcagctcgcgagcctaccctccgcgg c.-121
. . . . . . g.5204
acggtcttgggtcgcctgctgcctggcttgcctggtcggcggcgggtgccccgcgcgcac c.-61
. . . . . . g.5264
gcgcaaagcccgccgcgttccccgaccccaggccgcgctctgtgggcctctgagggcggc c.-1
. . . . . . g.5324
ATGCGGGACTACGACGAGGTGACCGCCTTCCTGGGCGAGTGGGGGCCCTTCCAGCGCCTC c.60
M R D Y D E V T A F L G E W G P F Q R L p.20
. . . . . . g.5384
ATCTTCTTCCTGCTCAGCGCCAGCATCATCCCCAATGGCTTCACCGGCCTGTCCTCCGTG c.120
I F F L L S A S I I P N G F T G L S S V p.40
. . . . . . g.5444
TTCCTGATAGCGACCCCGGAGCACCGCTGCCGGGTGCCGGACGCCGCGAACCTGAGCAGC c.180
F L I A T P E H R C R V P D A A N L S S p.60
. . . . . . g.5504
GCCTGGCGCAACCACACTGTCCCACTGCGGCTGCGGGACGGCCGCGAGGTGCCCCACAGC c.240
A W R N H T V P L R L R D G R E V P H S p.80
. . . . . . g.5564
TGCCGCCGCTACCGGCTCGCCACCATCGCCAACTTCTCGGCGCTTGGGCTGGAGCCGGGG c.300
C R R Y R L A T I A N F S A L G L E P G p.100
. . . . . . g.5624
CGCGACGTGGACCTGGGGCAGCTGGAGCAGGAGAGCTGTCTGGATGGCTGGGAGTTCAGT c.360
R D V D L G Q L E Q E S C L D G W E F S p.120
. . . | 02 . . . g.13696
CAGGACGTCTACCTGTCCACCATTGTGACCGAG | TGGAACCTGGTGTGTGAGGACGACTGG c.420
Q D V Y L S T I V T E | W N L V C E D D W p.140
. . . . . . g.13756
AAGGCCCCACTCACAATCTCCTTGTTCTTCGTGGGTGTGCTGTTGGGCTCCTTCATTTCA c.480
K A P L T I S L F F V G V L L G S F I S p.160
. | 03. . . . . g.19481
GGGCAGCTGTCAGACAG | GTTTGGCCGGAAGAATGTGCTGTTCGTGACCATGGGCATGCAG c.540
G Q L S D R | F G R K N V L F V T M G M Q p.180
. . . . . . g.19541
ACAGGCTTCAGCTTCCTGCAGATCTTCTCGAAGAATTTTGAGATGTTTGTCGTGCTGTTT c.600
T G F S F L Q I F S K N F E M F V V L F p.200
. . . . . | 04 . g.20627
GTCCTTGTAGGCATGGGCCAGATCTCCAACTATGTGGCAGCATTTGTCCTGG | GGACAGAA c.660
V L V G M G Q I S N Y V A A F V L G | T E p.220
. . . . . . g.20687
ATTCTTGGCAAGTCAGTTCGTATAATATTCTCTACGTTAGGAGTGTGCATATTTTATGCA c.720
I L G K S V R I I F S T L G V C I F Y A p.240
. . . . . . g.20747
TTTGGCTACATGGTGCTGCCACTGTTTGCTTACTTCATCCGAGACTGGCGGATGCTGCTG c.780
F G Y M V L P L F A Y F I R D W R M L L p.260
. . . . | 05 . . g.22332
GTGGCGCTGACGATGCCGGGGGTGCTATGCGTGGCACTCTGGTG | GTTCATCCCTGAGTCC c.840
V A L T M P G V L C V A L W W | F I P E S p.280
. . . . . . g.22392
CCCCGATGGCTCATCTCTCAGGGACGATTTGAAGAGGCAGAGGTGATCATCCGCAAGGCT c.900
P R W L I S Q G R F E E A E V I I R K A p.300
. . . . . | 06 . g.24221
GCCAAAGCCAATGGGATTGTTGTGCCTTCCACTATCTTTGACCCGAGTGAG | TTACAAGAC c.960
A K A N G I V V P S T I F D P S E | L Q D p.320
. . . . . . g.24281
CTAAGTTCCAAGAAGCAGCAGTCCCACAACATTCTGGATCTGCTTCGAACCTGGAATATC c.1020
L S S K K Q Q S H N I L D L L R T W N I p.340
. . . | 07 . . . g.26009
CGGATGGTCACCATCATGTCCATAATGCTGTG | GATGACCATATCAGTGGGCTATTTTGGG c.1080
R M V T I M S I M L W | M T I S V G Y F G p.360
. . . . . . g.26069
CTTTCGCTTGATACTCCTAACTTGCATGGGGACATCTTTGTGAACTGCTTCCTTTCAGCG c.1140
L S L D T P N L H G D I F V N C F L S A p.380
. . . . . . g.26129
ATGGTTGAAGTCCCAGCATATGTGTTGGCCTGGCTGCTGCTGCAATATTTGCCCCGGCGC c.1200
M V E V P A Y V L A W L L L Q Y L P R R p.400
. . . . . . g.26189
TATTCCATGGCCACTGCCCTCTTCCTGGGTGGCAGTGTCCTTCTCTTCATGCAGCTGGTA c.1260
Y S M A T A L F L G G S V L L F M Q L V p.420
| 08. . . . . . g.27777
CCCCCAG | ACTTGTATTATTTGGCTACAGTCCTGGTGATGGTGGGCAAGTTTGGAGTCACG c.1320
P P D | L Y Y L A T V L V M V G K F G V T p.440
. . . . . . g.27837
GCTGCCTTTTCCATGGTCTACGTGTACACAGCCGAGCTGTATCCCACAGTGGTGAGAAAC c.1380
A A F S M V Y V Y T A E L Y P T V V R N p.460
. . . . . . g.27897
ATGGGTGTGGGAGTCAGCTCCACAGCATCCCGCCTGGGCAGCATCCTGTCTCCCTACTTC c.1440
M G V G V S S T A S R L G S I L S P Y F p.480
. | 09 . . . . . g.29017
GTTTACCTTG | GTGCCTACGACCGCTTCCTGCCCTACATTCTCATGGGAAGTCTGACCATC c.1500
V Y L G | A Y D R F L P Y I L M G S L T I p.500
. . . . . . g.29077
CTGACAGCCATCCTCACCTTGTTTCTCCCAGAGAGCTTCGGTACCCCACTCCCAGACACC c.1560
L T A I L T L F L P E S F G T P L P D T p.520
. . | 10 . . . . g.29510
ATTGACCAGATGCTAAGAGTCAAAGG | AATGAAACACAGAAAAACTCCAAGTCACACAAGG c.1620
I D Q M L R V K G | M K H R K T P S H T R p.540
. . . . . g.29564
ATGTTAAAAGATGGTCAAGAAAGGCCCACAATCCTTAAAAGCACAGCCTTCTAA c.1674
M L K D G Q E R P T I L K S T A F X p.557
. . . . . . g.29624
catcgcttccagtaagggagaaactgaagaggaaagactgtcttgccagaaatggccagc c.*60
. . . . . . g.29684
ttgtgcagactccgagtccttcagtgacaaaaggcctttgctgtttgtcctcttgacctg c.*120
. . . . . . g.29744
tgtctgacttgctcctggatgggcacccacactcagaggctacatatggccctagagcac c.*180
. . . . . . g.29804
caccttcctctagggacactggggctacctacagacaacttcatctaagtcctaactatt c.*240
. . . . . . g.29864
acaatgatggactcagcacctccaaagcagttaatttttcactagaaccagtgagatctg c.*300
. . . . . . g.29924
gaggaatgtgagaagcatatgctaaatgtacattttaattttagactacttgaaaaggcc c.*360
. . . . . . g.29984
cctaataaggctagaggtctaagtcccccacccctttccccactcccctctagtggtgaa c.*420
. . . . . . g.30044
ctttagaggaaaaggaagtaattgcacaaggagtttgattcttaccttttctcagttaca c.*480
. . . . . . g.30104
gaggacattaactggatcattgcttccccagggcaggagagcgcagagctagggaaagtg c.*540
. . . . . . g.30164
aaaggtaatgaagatggagcagaatgagcagatgcagatcaccagcaaagtgcactgatg c.*600
. . . . . . g.30224
tgtgagctcttaagaccactcagcatgacgactgagtagacttgtttacatctgatcaaa c.*660
. . . . . . g.30284
gcactgggcttgtccaggctcataataaatgctccattgaatctactattcttgttttcc c.*720
. . . . . . g.30344
actgctgtggaaacctccttgctactatagcgtcttatgtatggtttaaaggaaatttat c.*780
. . . . . . g.30404
caggtgagagagatgagcaacgttgtcttttctctcaaagctgtaatgtgggttttgttt c.*840
. . . . . . g.30464
tattgtttatttgtttgttgttgtatccttttctccttgttatttgcccttcagaatgca c.*900
. . . . . . g.30524
cttgggaaaggctggttccttagcctcctggtttgtgtctttttttttttttttttaaaa c.*960
. . . . . . g.30584
cagaatcactctggcaattgtctgcagctgccactggtgcaaggccttaccagccctagc c.*1020
. . . . . . g.30644
ctctagcacttctctaagtgccaaaaacagtgtcattgtgtgtgttcctttcttgatact c.*1080
. . . . . . g.30704
tagtcatgggaggatattacaaaaaagaaatttaaattgtgttcatagtctttcagagta c.*1140
. . . . . . g.30764
gctcactttagtcctgtaactttattgggtgatattttgtgttcagtgtaattgtcttct c.*1200
. . . . . . g.30824
ctttgctgattatgttaccatggtactcctaaagcatatgcctcacctggttaaaaaaga c.*1260
. . . . . . g.30884
acaaacatgtttttgtgaaagctactgaagtgccttgggaaatgagaaagttttaataag c.*1320
. . g.30906
taaaatgattttttaaataaca c.*1342
(downstream sequence)
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