(used for variant description)
(last modified December 23, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_003047.4 in the SLC9A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_030006.1, covering SLC9A1 transcript NM_003047.4.
(upstream sequence)
. g.4846
gcttcagtctgctgcc c.-781
. . . . . . g.4906
gccggggccggggctagggttagttctggagctggaccaggaggagctgcagctgggccg c.-721
. . . . . . g.4966
gggcggagcgccgcgtcgcgccagggccgcgaggaggggcgtgttgctgctggcccaccg c.-661
. . . . . . g.5026
cgagccgcccccagcccgcgccgaggcgccttcccgccaggccgcctgccttccgcctct c.-601
. . . . . . g.5086
ttccatttccccggaatctcagcccggcgcgcctggacccctgcccctctctgggtggag c.-541
. . . . . . g.5146
aagctcccggccgcttcccggtttcactccttctcagcctgggctcccagccccctctct c.-481
. . . . . . g.5206
ccttttcctggactggctctcacccccttcggtccccttcctttagctcaggctccctac c.-421
. . . . . . g.5266
cccttcctttagcccacagcccagagtcccagctcctcagtcactttcctcagccaaagg c.-361
. . . . . . g.5326
tcccagccttccttcttcctttcctttgcactatccctatcctgccccttcctctatccc c.-301
. . . . . . g.5386
tagggctcagtttcccacatccgtcctcccccttcccaggcccggagttccagacctttt c.-241
. . . . . . g.5446
ggtctcctttcgtggtcgttcctgggtccttgccccctttccccactttggagttccaga c.-181
. . . . . . g.5506
ttgcaaacccagcctccctccacccccagaaaattgcttccatggaaatgcctctctaaa c.-121
. . . . . . g.5566
acatgaacttttcctagagactacgccagtctctcttcccacttgctgaccctttgctac c.-61
. . . . . . g.5626
ctatgtgcccggttttactctcatttgggtaaggtcgaggctggctctggaagcagcacc c.-1
. . . . . . g.5686
ATGGTTCTGCGGTCTGGCATCTGTGGCCTCTCTCCACATCGGATCTTCCCTTCCTTACTC c.60
M V L R S G I C G L S P H R I F P S L L p.20
. . . . . . g.5746
GTGGTGGTTGCTTTGGTGGGGCTGCTGCCTGTTCTCAGGAGCCATGGCCTCCAGCTCAGC c.120
V V V A L V G L L P V L R S H G L Q L S p.40
. . . . . . g.5806
CCAACTGCCAGCACCATTCGAAGCTCAGAGCCACCACGAGAACGCTCGATTGGGGATGTC c.180
P T A S T I R S S E P P R E R S I G D V p.60
. . . . . . g.5866
ACCACCGCTCCACCGGAGGTCACCCCAGAGAGCCGCCCTGTTAATCATTCCGTCACTGAT c.240
T T A P P E V T P E S R P V N H S V T D p.80
. . . . . . g.5926
CATGGCATGAAGCCGCGCAAGGCCTTTCCAGTCCTGGGCATCGACTACACACACGTGCGC c.300
H G M K P R K A F P V L G I D Y T H V R p.100
. . . . . | 02 . g.45682
ACCCCCTTCGAGATCTCCCTCTGGATCCTTCTGGCCTGCCTCATGAAGATAG | GTTTCCAT c.360
T P F E I S L W I L L A C L M K I G | F H p.120
. . . . . . g.45742
GTGATCCCCACTATCTCAAGCATCGTCCCGGAGAGCTGCCTGCTGATCGTGGTGGGGCTG c.420
V I P T I S S I V P E S C L L I V V G L p.140
. . . . . . g.45802
CTGGTGGGGGGCCTGATCAAGGGTGTAGGCGAGACACCCCCCTTCCTGCAGTCCGACGTC c.480
L V G G L I K G V G E T P P F L Q S D V p.160
. . . . . . g.45862
TTCTTCCTCTTCCTGCTGCCGCCCATCATCCTGGATGCGGGCTACTTCCTGCCACTGCGG c.540
F F L F L L P P I I L D A G Y F L P L R p.180
. . . . . . g.45922
CAGTTCACAGAAAACCTGGGCACCATCCTGATCTTTGCCGTGGTGGGCACGCTGTGGAAC c.600
Q F T E N L G T I L I F A V V G T L W N p.200
. . . . . . g.45982
GCCTTCTTCCTGGGCGGCCTCATGTACGCCGTGTGCCTGGTGGGCGGTGAGCAGATCAAC c.660
A F F L G G L M Y A V C L V G G E Q I N p.220
. . . . . . g.46042
AACATCGGCCTCCTGGACAACCTGCTCTTCGGCAGCATCATCTCGGCCGTGGACCCCGTG c.720
N I G L L D N L L F G S I I S A V D P V p.240
. . . . . . g.46102
GCGGTTCTGGCTGTCTTTGAGGAAATTCACATCAATGAGCTGCTGCACATCCTTGTTTTT c.780
A V L A V F E E I H I N E L L H I L V F p.260
. . . | 03 . . . g.50210
GGGGAGTCCTTGCTCAATGACGCCGTCACTGTG | GTCCTGTATCACCTCTTTGAGGAGTTT c.840
G E S L L N D A V T V | V L Y H L F E E F p.280
. . . . . . g.50270
GCCAACTACGAACACGTGGGCATCGTGGACATCTTCCTCGGCTTCCTGAGCTTCTTCGTG c.900
A N Y E H V G I V D I F L G F L S F F V p.300
. . . . . . g.50330
GTGGCCCTGGGCGGGGTGCTTGTGGGCGTGGTCTACGGGGTCATCGCAGCCTTCACCTCC c.960
V A L G G V L V G V V Y G V I A A F T S p.320
. . . . . . g.50390
CGATTTACCTCCCACATCCGGGTCATCGAGCCGCTCTTCGTCTTCCTCTACAGCTACATG c.1020
R F T S H I R V I E P L F V F L Y S Y M p.340
. . . . | 04 . . g.52111
GCCTACTTGTCAGCCGAGCTCTTCCACCTGTCAGGCATCATGGC | GCTCATAGCCTCAGGA c.1080
A Y L S A E L F H L S G I M A | L I A S G p.360
. . . . . . g.52171
GTGGTGATGCGCCCCTATGTGGAGGCCAACATCTCCCACAAGTCCCACACCACCATCAAA c.1140
V V M R P Y V E A N I S H K S H T T I K p.380
. . . . . . g.52231
TACTTCCTGAAGATGTGGAGCAGCGTCAGCGAGACCCTCATCTTCATCTTCCTCGGCGTC c.1200
Y F L K M W S S V S E T L I F I F L G V p.400
. . . . . . g.52291
TCCACGGTGGCCGGCTCCCACCACTGGAACTGGACCTTCGTCATCAGCACCCTGCTCTTC c.1260
S T V A G S H H W N W T F V I S T L L F p.420
. . | 05 . . . . g.53911
TGCCTCATCGCCCGCGTGCTGG | GGGTGCTGGGCCTGACCTGGTTCATCAACAAGTTCCGT c.1320
C L I A R V L G | V L G L T W F I N K F R p.440
. . . . . . g.53971
ATCGTGAAGCTGACCCCCAAGGACCAGTTCATCATCGCCTATGGGGGCCTGCGAGGGGCC c.1380
I V K L T P K D Q F I I A Y G G L R G A p.460
. . . . . . g.54031
ATCGCCTTCTCTCTGGGCTACCTCCTGGACAAGAAGCACTTCCCCATGTGTGACCTGTTC c.1440
I A F S L G Y L L D K K H F P M C D L F p.480
. . . . | 06 . . g.56663
CTCACTGCCATCATCACTGTCATCTTCTTCACCGTCTTTGTGCAG | GGCATGACCATTCGG c.1500
L T A I I T V I F F T V F V Q | G M T I R p.500
. . . . . . g.56723
CCCCTGGTAGACCTGTTGGCTGTGAAGAAAAAGCAAGAGACGAAGCGCTCCATCAACGAA c.1560
P L V D L L A V K K K Q E T K R S I N E p.520
. | 07 . . . . . g.57262
GAGATCCACACACAG | TTCCTGGACCACCTTCTGACAGGCATCGAAGACATCTGTGGCCAC c.1620
E I H T Q | F L D H L L T G I E D I C G H p.540
. . | 08 . . . . g.57436
TACGGTCACCACCACTGGAAGGACAA | GCTCAACCGGTTTAATAAGAAATATGTGAAGAAG c.1680
Y G H H H W K D K | L N R F N K K Y V K K p.560
. . . . . . g.57496
TGTCTGATAGCTGGCGAGCGCTCCAAGGAGCCCCAGCTCATTGCCTTCTACCACAAGATG c.1740
C L I A G E R S K E P Q L I A F Y H K M p.580
. . . . . . g.57556
GAGATGAAGCAGGCCATCGAGCTGGTGGAGAGCGGGGGCATGGGCAAGATCCCCTCTGCC c.1800
E M K Q A I E L V E S G G M G K I P S A p.600
. . | 09 . . . . g.57870
GTCTCCACCGTCTCCATGCA | GAACATCCACCCCAAGTCCCTGCCTTCCGAGCGCATCCTG c.1860
V S T V S M Q | N I H P K S L P S E R I L p.620
. . . . . . g.57930
CCAGCACTGTCCAAGGACAAGGAGGAGGAGATCCGCAAAATCCTGAGGAACAACTTGCAG c.1920
P A L S K D K E E E I R K I L R N N L Q p.640
. | 10 . . . . . g.58179
AAGACCAGGCAGCGG | CTGCGGTCCTACAACAGACACACGCTGGTGGCAGACCCCTACGAG c.1980
K T R Q R | L R S Y N R H T L V A D P Y E p.660
. . . . . | 11. g.58688
GAAGCCTGGAACCAGATGCTGCTCCGGAGGCAGAAGGCCCGGCAGCTGGAGCAGAAG | ATC c.2040
E A W N Q M L L R R Q K A R Q L E Q K | I p.680
. . . . . . g.58748
AACAACTACCTGACGGTGCCAGCCCACAAGCTGGACTCACCCACCATGTCTCGGGCCCGC c.2100
N N Y L T V P A H K L D S P T M S R A R p.700
. | 12 . . . . . g.59366
ATCGGCTCAG | ACCCACTGGCCTATGAGCCGAAGGAGGACCTGCCTGTCATCACCATCGAC c.2160
I G S D | P L A Y E P K E D L P V I T I D p.720
. . . . . . g.59426
CCGGCTTCCCCGCAGTCACCCGAGTCTGTGGACCTGGTGAATGAAGAGCTGAAGGGCAAA c.2220
P A S P Q S P E S V D L V N E E L K G K p.740
. . . . . . g.59486
GTCTTAGGGTTGAGCCGGGATCCTGCAAAGGTGGCTGAGGAGGACGAGGACGACGATGGG c.2280
V L G L S R D P A K V A E E D E D D D G p.760
. . . . . . g.59546
GGCATCATGATGCGGAGCAAGGAGACTTCGTCCCCAGGAACCGACGATGTCTTCACCCCC c.2340
G I M M R S K E T S S P G T D D V F T P p.780
. . . . . . g.59606
GCGCCCAGTGACAGCCCCAGCTCCCAGAGGATACAGCGCTGCCTCAGTGACCCAGGCCCA c.2400
A P S D S P S S Q R I Q R C L S D P G P p.800
. . . . g.59654
CACCCTGAGCCTGGGGAGGGAGAACCGTTCTTCCCCAAGGGGCAGTAA c.2448
H P E P G E G E P F F P K G Q X p.815
. . . . . . g.59714
caccagggccagcaggcagcgcctgtcccctcacagactcttccaccagagcaggggctg c.*60
. . . . . . g.59774
ctgggggctccccttgcccttcctgacccggattggccctgcccctccccctaccgcatg c.*120
. . . . . . g.59834
gcagctgggcccacagcccccaccccagcacagctcctcccctgccgcctcccgggaagc c.*180
. . . . . . g.59894
atcctccccaccagagctgcctccccaatccatttggcagaactgctggggctggtgagg c.*240
. . . . . . g.59954
ccggccctgcccctccctagatccaggcttctcccggacctggactagggcctcggaggc c.*300
. . . . . . g.60014
tcctccctctgcctcatcctcctcctcattcagaccaatcttagtttctaaccaaagagt c.*360
. . . . . . g.60074
ctctggctcagctgtggtcccacccaggaagggagggagctgaggcctcccttgagtagg c.*420
. . . . . . g.60134
ccctgctttatcaggggacaaaccaggggtaccaggcacatggctgggggagggactgct c.*480
. . . . . . g.60194
gacccaccaaggtctcacactcctcctgccagctctgtcaccctggccaccacccaacct c.*540
. . . . . . g.60254
gtccttactcagagctgcgggctgagggcatctctgagtgtctctgcctggagcaggggt c.*600
. . . . . . g.60314
ggtttctacggtgacagtgacgtgactcagagcttttcgaactgtgctcccacggggacc c.*660
. . . . . . g.60374
actgggcccctcaggggaagctgctaggggaaggactggccgtggctccagaatgtgctg c.*720
. . . . . . g.60434
cctttttaagttttgtttgttcacactcctatatatgattgtttgcacagagggcgctcc c.*780
. . . . . . g.60494
tgtttttaaaacattttgaaaacccctggctgaacagtgctctgcctctaactccctcct c.*840
. . . . . . g.60554
cacactccagaattacccttcctcatctgtgcctgtctgtccaacccctcccccacgtct c.*900
. . . . . . g.60614
ctctgcctgctgggctcttaactgttgctcgaagactgtgacatcagaagtaactcccac c.*960
. . . . . . g.60674
tcctaatcaagagtctctccagcctcacagatgctggcctcttggcacctgcctagctct c.*1020
. . . . . . g.60734
tgggcctgacctccagtcctgctggcctgctcttacttcccccaccctgggtttggcccc c.*1080
. . . . . . g.60794
tggaacctttcccttgtgtgtaccacaccctgcctgctgtggagcccattgtggaggcgg c.*1140
. . . . . . g.60854
tgggggggagaaggcctcccctgaggatcccctgtcccctggggctggtggattgggcag c.*1200
. . . . . . g.60914
aatcctgggcccccagagacctttgcccacacacactccttccccttgtccctggggcac c.*1260
. . . . . . g.60974
tcccccaggattgtgcaatagtcagagtgtccctttttgcaggggactgggccatgggtc c.*1320
. . . . . . g.61034
ctcggcccatctgtccatcctcctctccatgcaagtgctgtttgggcaggagtcaccatg c.*1380
. . . . . . g.61094
caagggtgacatcgacaaccacgtaccaagccaccgcagctgctgccactctgctgcctg c.*1440
. . . . . g.61152
tacagaagaaactgaatctttttcatattctaataaatcaatgtgagtttttaataga c.*1498
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2014 Leiden University Medical Center