(used for variant description)
(last modified October 12, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001104577.1 in the SLC52A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033117.1, covering SLC52A1 transcript NM_001104577.1.
(upstream sequence)
. . . . . g.5053
agtgtcgcaaaagcgctagggttgcaagtggcaccagagacgtgcccttgtcc c.-661
. . . . . . g.5113
cggggtccatttgagggtgagcgtgttggtgccgagctgtttttttgttttgttttgttt c.-601
. . . . . . g.5173
tgttttgtttttgagaccgaatctcgttctgtcgcccaggctggaatgcagtggtgtgat c.-541
. . . . . . g.5233
cttggctcactgcaacctccaccttccgggttcaagtgaatctcctgcctcagcctcctg c.-481
. . . . . . g.5293
agtagctgggattactggcacccaccaccacgaccagctaatttttgtatttttagtaga c.-421
. . . . . . g.5353
gacgggttttcaccatgttggccaggatggtctcaatctcctgacctcaggcgatctgcc c.-361
. . . . . . g.5413
ttcctcagcttcccaaagtgctgggattacaggtgtgagccaccgcacccggccagtgct c.-301
. . . . . . g.5473
gagctgttttgacaacttggaccccgggtcctctgtgggtaggaaaatcagctccctctt c.-241
. . . . . . g.5533
tgctcctctggggcagctgcacctcgggccagctttctgcctgtctgcctgccggcactg c.-181
. . . . | 02 . g.5706
ctgggtcgctgtacccaaacgcacagccggtgccccgtg | cctattacctgccagcctgtc c.-121
. . . . . . g.5766
tgtttccctccagctagaaggtcttcagtttccagaagaaccaaagcatctttggaccta c.-61
. . . . . . g.5826
cctagggaaggacctgcctgtgacctttgccctgtcctggagggtccagctttgggctga c.-1
. . . . . . g.5886
ATGGCAGCACCCACGCTGGGCCGTCTGGTGCTGACCCACCTGCTGGTGGCCCTTTTTGGC c.60
M A A P T L G R L V L T H L L V A L F G p.20
. . . . . . g.5946
ATGGGCTCCTGGGCTGCTGTGAACGGGATCTGGGTGGAGCTGCCTGTGGTGGTAAAAGAC c.120
M G S W A A V N G I W V E L P V V V K D p.40
. | 03 . . . . . g.6124
CTTCCAGAGG | GTTGGAGCCTCCCCTCATACCTCTCTGTGGTTGTGGCGCTGGGAAACCTG c.180
L P E G | W S L P S Y L S V V V A L G N L p.60
. . . . . . g.6184
GGTCTGCTGGTGGTGACCCTGTGGAGGCAGCTGGCCCCGGGCAAGGGCGAGCAGGTCCCC c.240
G L L V V T L W R Q L A P G K G E Q V P p.80
. . . . . . g.6244
ATCCAGGTGGTACAGGTGCTGAGTGTAGTGGGCACAGCCCTGCTGGCCCCTCTGTGGCAC c.300
I Q V V Q V L S V V G T A L L A P L W H p.100
. . . . . . g.6304
CACGTGGCCCCAGTGGCAGGGCAGCTCCACTCTGTGGCCTTCCTAACTCTGGCCTTGGTG c.360
H V A P V A G Q L H S V A F L T L A L V p.120
. . . . . . g.6364
TTGGCAATGGCCTGTTGTACCTCTAATGTCACTTTCCTGCCCTTCCTGAGCCACCTGCCA c.420
L A M A C C T S N V T F L P F L S H L P p.140
. . . . . . g.6424
CCTCCTTTCTTACGGTCTTTCTTCCTGGGTCAGGGTCTCAGTGCCCTACTCCCCTGTGTG c.480
P P F L R S F F L G Q G L S A L L P C V p.160
. . . . . . g.6484
CTGGCCCTAGTGCAAGGTGTGGGCCGCCTCGAGTGCCCACCAGCGCCCACCAATGGCACC c.540
L A L V Q G V G R L E C P P A P T N G T p.180
. . . . . . g.6544
TCTGGGCCTCCCCTCGACTTCCCTGAGCGTTTTCCTGCCAGCACCTTCTTCTGGGCACTG c.600
S G P P L D F P E R F P A S T F F W A L p.200
. . . . . . g.6604
ACTGCCCTTCTGGTCACTTCAGCTGCCGCCTTCCGGGGTCTCCTGTTGCTGTTGCCATCA c.660
T A L L V T S A A A F R G L L L L L P S p.220
. . . . . . g.6664
CTACCCTCTGTAACCACAGGGGGCTCAGGGCCTGAACTTCAACTGGGATCCCCAGGAGCA c.720
L P S V T T G G S G P E L Q L G S P G A p.240
. . . . . . g.6724
GAGGAGGAAGAGAAGGAGGAAGAAGAGGCTTTGCCATTGCAGGAGCCACCGAGCCAGGCA c.780
E E E E K E E E E A L P L Q E P P S Q A p.260
. . . . . . g.6784
GCAGGCACCATCCCTGGCCCAGACCCTGAGGCCCATCAGCTGTTCTCAGCCCATGGTGCC c.840
A G T I P G P D P E A H Q L F S A H G A p.280
. . . . . . g.6844
TTCCTGCTGGGCCTGATGGCCTTCACCAGTGCCGTGACCAATGGCGTGCTGCCTTCTGTG c.900
F L L G L M A F T S A V T N G V L P S V p.300
. . . . . . g.6904
CAGAGCTTTTCCTGTTTGCCCTATGGGCGCCTGGCCTACCACCTGGCTGTGGTGCTGGGC c.960
Q S F S C L P Y G R L A Y H L A V V L G p.320
. . . . . | 04 . g.7058
AGTGCCGCCAACCCCCTTGCCTGCTTCCTGGCCATGGGCGTGCTGTGCAG | GTCCCTGGCA c.1020
S A A N P L A C F L A M G V L C R | S L A p.340
. . . . . . g.7118
GGGCTGGTTGGTCTTTCTCTGCTGGGCATGCTCTTTGGGGCCTACCTGATGGCACTGGCA c.1080
G L V G L S L L G M L F G A Y L M A L A p.360
. . . . . | 05 . g.7269
ATCCTGAGCCCCTGCCCACCCCTGGTGGGCACCACTGCAGGGGTGGTCCTTGTG | GTGCTG c.1140
I L S P C P P L V G T T A G V V L V | V L p.380
. . . . . . g.7329
TCGTGGGTGCTGTGTCTGTGTGTGTTCTCATATGTGAAGGTGGCTGCAAGCTCCCTGCTG c.1200
S W V L C L C V F S Y V K V A A S S L L p.400
. . . . . . g.7389
CATGGTGGGGGTCGGCCGGCATTGCTGGCAGCTGGTGTGGCCATCCAAGTGGGCTCCCTG c.1260
H G G G R P A L L A A G V A I Q V G S L p.420
. . . . . . g.7449
CTTGGTGCCGGTGCCATGTTCCCTCCCACCAGCATCTACCACGTGTTTCAAAGCAGAAAG c.1320
L G A G A M F P P T S I Y H V F Q S R K p.440
. . g.7476
GACTGTGTAGACCCCTGTGGCCCCTGA c.1347
D C V D P C G P X p.448
. . . . . . g.7536
gcctgggcaggtggggacccaactccaccccacctgtcttcatcgtgaggctgccacagt c.*60
. . . . . . g.7596
gcctgactacttgtggcccaggcaggcttcccccaacacaggaacgctcatggacacctg c.*120
. . . . . . g.7656
cacactccacagaagacgttggcatgtgaggccagggtgggcaccaaagaccaggcccag c.*180
. . . . . . g.7716
agccaggggacaggttggggctgtgggcttggacccagggcctgagacctttgtgggatt c.*240
. . . . . . g.7776
tgtgcaataaagtgtttttatttaaaaccaaaaacaaaaacaaaagcctaatgaaaacct c.*300
. . . . . g.7831
tataagaaatatataatgaaatcaggaaactggattaaataatttttcatacata c.*355
(downstream sequence)
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