(used for variant description)
(last modified October 9, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006516.2 in the SLC2A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008232.1, covering SLC2A1 transcript NM_006516.2.
(upstream sequence)
. . . . g.5045
tccaccattttgctagagaaggccgcggaggctcagagaggtgcg c.-481
. . . . . . g.5105
cacacttgccctgagtcacacagcgaatgccctccgcggtcccaacgcagagagaacgag c.-421
. . . . . . g.5165
ccgatcggcagcctgagcgaggcagtggttagggggggccccggccccggccactcccct c.-361
. . . . . . g.5225
caccccctccccgcagagcgccgcccaggacaggctgggccccaggccccgccccgaggt c.-301
. . . . . . g.5285
cctgcccacacacccctgacacaccggcgtcgccagccaatggccggggtcctataaacg c.-241
. . . . . . g.5345
ctacggtccgcgcgctctctggcaagaggcaagaggtagcaacagcgagcgtgccggtcg c.-181
. . . . . . g.5405
ctagtcgcgggtccccgagtgagcacgccagggagcaggagaccaaacgacgggggtcgg c.-121
. . . . . . g.5465
agtcagagtcgcagtgggagtccccggaccggagcacgagcctgagcgggagagcgccgc c.-61
. . . . . . g.5525
tcgcacgcccgtcgccacccgcgtacccggcgcagccagagccaccagcgcagcgctgcc c.-1
. | 02 . . . . g.20897
ATGGAGCCCAGCAGCAAG | AAGCTGACGGGTCGCCTCATGCTGGCCGTGGGAGGAGCAGTG c.60
M E P S S K | K L T G R L M L A V G G A V p.20
. . . . . | 03 . g.32976
CTTGGCTCCCTGCAGTTTGGCTACAACACTGGAGTCATCAATGCCCCCCAGAAG | GTGATC c.120
L G S L Q F G Y N T G V I N A P Q K | V I p.40
. . . . . . g.33036
GAGGAGTTCTACAACCAGACATGGGTCCACCGCTATGGGGAGAGCATCCTGCCCACCACG c.180
E E F Y N Q T W V H R Y G E S I L P T T p.60
. . . . . . g.33096
CTCACCACGCTCTGGTCCCTCTCAGTGGCCATCTTTTCTGTTGGGGGCATGATTGGCTCC c.240
L T T L W S L S V A I F S V G G M I G S p.80
. . . | 04 . . . g.33335
TTCTCTGTGGGCCTTTTCGTTAACCGCTTTGGCCG | GCGGAATTCAATGCTGATGATGAAC c.300
F S V G L F V N R F G R | R N S M L M M N p.100
. . . . . . g.33395
CTGCTGGCCTTCGTGTCCGCCGTGCTCATGGGCTTCTCGAAACTGGGCAAGTCCTTTGAG c.360
L L A F V S A V L M G F S K L G K S F E p.120
. . . . . . g.33455
ATGCTGATCCTGGGCCGCTTCATCATCGGTGTGTACTGCGGCCTGACCACAGGCTTCGTG c.420
M L I L G R F I I G V Y C G L T T G F V p.140
. . . . . . g.33515
CCCATGTATGTGGGTGAAGTGTCACCCACAGCCCTTCGTGGGGCCCTGGGCACCCTGCAC c.480
P M Y V G E V S P T A L R G A L G T L H p.160
. . . | 05 . . . g.34165
CAGCTGGGCATCGTCGTCGGCATCCTCATCGCCCAG | GTGTTCGGCCTGGACTCCATCATG c.540
Q L G I V V G I L I A Q | V F G L D S I M p.180
. . . . . . g.34225
GGCAACAAGGACCTGTGGCCCCTGCTGCTGAGCATCATCTTCATCCCGGCCCTGCTGCAG c.600
G N K D L W P L L L S I I F I P A L L Q p.200
. . . . . . g.34285
TGCATCGTGCTGCCCTTCTGCCCCGAGAGTCCCCGCTTCCTGCTCATCAACCGCAACGAG c.660
C I V L P F C P E S P R F L L I N R N E p.220
. | 06 . . . . g.34437
GAGAACCGGGCCAAGAGTG | TGCTAAAGAAGCTGCGCGGGACAGCTGACGTGACCCATGAC c.720
E N R A K S V | L K K L R G T A D V T H D p.240
. . . . . . g.34497
CTGCAGGAGATGAAGGAAGAGAGTCGGCAGATGATGCGGGAGAAGAAGGTCACCATCCTG c.780
L Q E M K E E S R Q M M R E K K V T I L p.260
. . . . . . g.34557
GAGCTGTTCCGCTCCCCCGCCTACCGCCAGCCCATCCTCATCGCTGTGGTGCTGCAGCTG c.840
E L F R S P A Y R Q P I L I A V V L Q L p.280
. . | 07. . . . g.34895
TCCCAGCAGCTGTCTGGCATCAACGCT | GTCTTCTATTACTCCACGAGCATCTTCGAGAAG c.900
S Q Q L S G I N A | V F Y Y S T S I F E K p.300
. . . . . . g.34955
GCGGGGGTGCAGCAGCCTGTGTATGCCACCATTGGCTCCGGTATCGTCAACACGGCCTTC c.960
A G V Q Q P V Y A T I G S G I V N T A F p.320
. | 08 . . . . . g.35191
ACTGTCGTGTCG | CTGTTTGTGGTGGAGCGAGCAGGCCGGCGGACCCTGCACCTCATAGGC c.1020
T V V S | L F V V E R A G R R T L H L I G p.340
. . . . . | 09 . g.36374
CTCGCTGGCATGGCGGGTTGTGCCATACTCATGACCATCGCGCTAGCACTGCTG | GAGCAG c.1080
L A G M A G C A I L M T I A L A L L | E Q p.360
. . . . . . g.36434
CTACCCTGGATGTCCTATCTGAGCATCGTGGCCATCTTTGGCTTTGTGGCCTTCTTTGAA c.1140
L P W M S Y L S I V A I F G F V A F F E p.380
. . . . . . g.36494
GTGGGTCCTGGCCCCATCCCATGGTTCATCGTGGCTGAACTCTTCAGCCAGGGTCCACGT c.1200
V G P G P I P W F I V A E L F S Q G P R p.400
. . . . . . g.36554
CCAGCTGCCATTGCCGTTGCAGGCTTCTCCAACTGGACCTCAAATTTCATTGTGGGCATG c.1260
P A A I A V A G F S N W T S N F I V G M p.420
. | 10 . . . . g.36977
TGCTTCCAGTATGTGGAG | CAACTGTGTGGTCCCTACGTCTTCATCATCTTCACTGTGCTC c.1320
C F Q Y V E | Q L C G P Y V F I I F T V L p.440
. . . . . . g.37037
CTGGTTCTGTTCTTCATCTTCACCTACTTCAAAGTTCCTGAGACTAAAGGCCGGACCTTC c.1380
L V L F F I F T Y F K V P E T K G R T F p.460
. . . . . . g.37097
GATGAGATCGCTTCCGGCTTCCGGCAGGGGGGAGCCAGCCAAAGTGACAAGACACCCGAG c.1440
D E I A S G F R Q G G A S Q S D K T P E p.480
. . . g.37136
GAGCTGTTCCATCCCCTGGGGGCTGATTCCCAAGTGTGA c.1479
E L F H P L G A D S Q V X p.492
. . . . . . g.37196
gtcgccccagatcaccagcccggcctgctcccagcagccctaaggatctctcaggagcac c.*60
. . . . . . g.37256
aggcagctggatgagacttccaaacctgacagatgtcagccgagccgggcctggggctcc c.*120
. . . . . . g.37316
tttctccagccagcaatgatgtccagaagaatattcaggacttaacggctccaggatttt c.*180
. . . . . . g.37376
aacaaaagcaagactgttgctcaaatctattcagacaagcaacaggttttataatttttt c.*240
. . . . . . g.37436
tattactgattttgttatttttatatcagcctgagtctcctgtgcccacatcccaggctt c.*300
. . . . . . g.37496
caccctgaatggttccatgcctgagggtggagactaagccctgtcgagacacttgccttc c.*360
. . . . . . g.37556
ttcacccagctaatctgtagggctggacctatgtcctaaggacacactaatcgaactatg c.*420
. . . . . . g.37616
aactacaaagcttctatcccaggaggtggctatggccacccgttctgctggcctggatct c.*480
. . . . . . g.37676
ccccactctaggggtcaggctccattaggatttgccccttcccatctcttcctacccaac c.*540
. . . . . . g.37736
cactcaaattaatctttctttacctgagaccagttgggagcactggagtgcagggaggag c.*600
. . . . . . g.37796
aggggaagggccagtctgggctgccgggttctagtctcctttgcactgagggccacacta c.*660
. . . . . . g.37856
ttaccatgagaagagggcctgtgggagcctgcaaactcactgctcaagaagacatggaga c.*720
. . . . . . g.37916
ctcctgccctgttgtgtatagatgcaagatatttatatatatttttggttgtcaatatta c.*780
. . . . . . g.37976
aatacagacactaagttatagtatatctggacaagccaacttgtaaatacaccacctcac c.*840
. . . . . . g.38036
tcctgttacttacctaaacagatataaatggctggtttttagaaacatggttttgaaatg c.*900
. . . . . . g.38096
cttgtggattgagggtaggaggtttggatgggagtgagacagaagtaagtggggttgcaa c.*960
. . . . . . g.38156
ccactgcaacggcttagacttcgactcaggatccagtcccttacacgtacctctcatcag c.*1020
. . . . . . g.38216
tgtcctcttgctcaaaaatctgtttgatccctgttacccagagaatatatacattcttta c.*1080
. . . . . . g.38276
tcttgacattcaaggcatttctatcacatatttgatagttggtgttcaaaaaaacactag c.*1140
. . . . . . g.38336
ttttgtgccagccgtgatgctcaggcttgaaatgcattattttgaatgtgaagtaaatac c.*1200
. . . . . . g.38396
tgtacctttattggacaggctcaaagaggttatgtgcctgaagtcgcacagtgaataagc c.*1260
. . . . . . g.38456
taaaacacctgcttttaacaatggtaccatacaaccactactccattaactccacccacc c.*1320
. . . . . . g.38516
tcctgcacccctccccacacacacaaaatgaaccacgttctttgtatgggcccaatgagc c.*1380
. . . . . . g.38576
tgtcaagctgccctgtgttcatttcatttggaattgccccctctggttcctctgtatact c.*1440
. . . . . . g.38636
actgcttcatctctaaagacagctcatcctcctccttcacccctgaatttccagagcact c.*1500
. . . . . . g.38696
tcatctgctccttcatcacaagtccagttttctgccactagtctgaatttcatgagaaga c.*1560
. . . . . . g.38756
tgccgatttggttcctgtgggtcctcagcactattcagtacagtgcttgatgcacagcag c.*1620
. . . . g.38802
gcactcagaaaatactggaggaaataaaacaccaaagatatttgtc c.*1666
(downstream sequence)
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