(used for variant description)
(last modified December 29, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_201649.3 in the SLC6A9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_050929.1, covering SLC6A9 transcript NM_201649.3.
(upstream sequence)
. . g.19179
aaaaacacaacaaaccccacacacccc c.-181
. . . . . . g.19239
actccagctccggagcacccgtgctgggctgcatggggactggccggaggggcagggcca c.-121
. . . . . . g.19299
ggggagcgggtaggcagagcttcgggaggagatgaggtgaaagtaattgacgctgcccag c.-61
. . . . . . g.19359
cccggcagtgggagaggcaggggatgcgtcagtgtcgcgctggagctggcagaggtgtga c.-1
. . . . . . g.19419
ATGAGCGGCGGAGACACGCGGGCTGCGATCGCTCGCCCCAGGATGGCCGCGGCTCATGGA c.60
M S G G D T R A A I A R P R M A A A H G p.20
. . | 02. . . . g.24803
CCTGTGGCCCCCTCTTCCCCAGAACAG | GTGACGCTTCTCCCTGTTCAGAGATCCTTCTTC c.120
P V A P S S P E Q | V T L L P V Q R S F F p.40
. . . . . . g.24863
CTGCCACCCTTTTCTGGAGCCACTCCCTCTACTTCCCTAGCAGAGTCTGTCCTCAAAGTC c.180
L P P F S G A T P S T S L A E S V L K V p.60
. . . . . . g.24923
TGGCATGGGGCCTACAACTCTGGTCTCCTTCCCCAACTCATGGCCCAGCACTCCCTAGCC c.240
W H G A Y N S G L L P Q L M A Q H S L A p.80
| 03 . . . . . g.25661
ATGGCCCAG | AATGGTGCTGTGCCCAGCGAGGCCACCAAGAGGGACCAGAACCTCAAACGG c.300
M A Q | N G A V P S E A T K R D Q N L K R p.100
. . . . . . g.25721
GGCAACTGGGGCAACCAGATCGAGTTTGTACTGACGAGCGTGGGCTATGCCGTGGGCCTG c.360
G N W G N Q I E F V L T S V G Y A V G L p.120
. . . . | 04 . . g.26410
GGCAATGTCTGGCGCTTCCCATACCTCTGCTATCGCAACGGGGGAG | GCGCCTTCATGTTC c.420
G N V W R F P Y L C Y R N G G G | A F M F p.140
. . . . . . g.26470
CCCTACTTCATCATGCTCATCTTCTGCGGGATCCCCCTCTTCTTCATGGAGCTCTCCTTC c.480
P Y F I M L I F C G I P L F F M E L S F p.160
. . . . . | 05 g.27871
GGCCAGTTTGCAAGCCAGGGGTGCCTGGGGGTCTGGAGGATCAGCCCCATGTTCAAAG | GA c.540
G Q F A S Q G C L G V W R I S P M F K G | p.180
. . . . . . g.27931
GTGGGCTATGGTATGATGGTGGTGTCCACCTACATCGGCATCTACTACAATGTGGTCATC c.600
V G Y G M M V V S T Y I G I Y Y N V V I p.200
. . . . . . g.27991
TGCATCGCCTTCTACTACTTCTTCTCGTCCATGACGCACGTGCTGCCCTGGGCCTACTGC c.660
C I A F Y Y F F S S M T H V L P W A Y C p.220
. . . . . . g.28051
AATAACCCCTGGAACACGCATGACTGCGCCGGTGTACTGGACGCCTCCAACCTCACCAAT c.720
N N P W N T H D C A G V L D A S N L T N p.240
. . . . . . g.28111
GGCTCTCGGCCAGCCGCCTTGCCCAGCAACCTCTCCCACCTGCTCAACCACAGCCTCCAG c.780
G S R P A A L P S N L S H L L N H S L Q p.260
. . | 06 . . . g.33538
AGGACCAGCCCCAGCGAGGAGTACTGGAG | GCTGTACGTGCTGAAGCTGTCAGATGACATT c.840
R T S P S E E Y W R | L Y V L K L S D D I p.280
. . . . . . g.33598
GGGAACTTTGGGGAGGTGCGGCTGCCCCTCCTTGGCTGCCTCGGTGTCTCCTGGTTGGTC c.900
G N F G E V R L P L L G C L G V S W L V p.300
. . . . | 07 . . g.33864
GTCTTCCTCTGCCTCATCCGAGGGGTCAAGTCTTCAGGGAAA | GTGGTGTACTTCACGGCC c.960
V F L C L I R G V K S S G K | V V Y F T A p.320
. . . . . . g.33924
ACGTTCCCCTACGTGGTGCTGACCATTCTGTTTGTCCGCGGAGTGACCCTGGAGGGAGCC c.1020
T F P Y V V L T I L F V R G V T L E G A p.340
. . . . . | 08. g.34079
TTTGACGGCATCATGTACTACCTAACCCCGCAGTGGGACAAGATCCTGGAGGCCAAG | GTG c.1080
F D G I M Y Y L T P Q W D K I L E A K | V p.360
. . . . . . g.34139
TGGGGTGATGCTGCCTCCCAGATCTTCTACTCACTGGGCTGCGCGTGGGGAGGCCTCATC c.1140
W G D A A S Q I F Y S L G C A W G G L I p.380
. . . . | 09 . . g.34884
ACCATGGCTTCCTACAACAAGTTCCACAATAACTGTTACCG | GGACAGTGTCATCATCAGC c.1200
T M A S Y N K F H N N C Y R | D S V I I S p.400
. . . . . . g.34944
ATCACCAACTGTGCCACCAGCGTCTATGCTGGCTTCGTCATCTTCTCCATCCTCGGCTTC c.1260
I T N C A T S V Y A G F V I F S I L G F p.420
. . . . . . g.35004
ATGGCCAATCACCTGGGCGTGGATGTGTCCCGTGTGGCAGACCACGGCCCTGGCCTGGCC c.1320
M A N H L G V D V S R V A D H G P G L A p.440
. . . . . . g.35064
TTCGTGGCTTACCCCGAGGCCCTCACACTACTTCCCATCTCCCCGCTGTGGTCTCTGCTC c.1380
F V A Y P E A L T L L P I S P L W S L L p.460
. . . | 10 . . g.35215
TTCTTCTTCATGCTTATCCTGCTGGGGCTGGGCACTCAG | TTCTGCCTCCTGGAGACGCTG c.1440
F F F M L I L L G L G T Q | F C L L E T L p.480
. . . . . . g.35275
GTCACAGCCATTGTGGATGAGGTGGGGAATGAGTGGATCCTGCAGAAAAAGACCTATGTG c.1500
V T A I V D E V G N E W I L Q K K T Y V p.500
. . . . . | 11 . g.35443
ACCTTGGGCGTGGCTGTGGCTGGCTTCCTGCTGGGCATCCCCCTCACCAGCCAG | GCAGGC c.1560
T L G V A V A G F L L G I P L T S Q | A G p.520
. . . . . . g.35503
ATCTATTGGCTGCTGCTGATGGACAACTATGCGGCCAGCTTCTCCTTGGTGGTCATCTCC c.1620
I Y W L L L M D N Y A A S F S L V V I S p.540
. . . | 12 . . . g.35651
TGCATCATGTGTGTGGCCATCATGTACATCTACG | GGCACCGGAACTACTTCCAGGACATC c.1680
C I M C V A I M Y I Y G | H R N Y F Q D I p.560
. . . . . . g.35711
CAGATGATGCTGGGATTCCCACCACCCCTCTTCTTTCAGATCTGCTGGCGCTTCGTCTCT c.1740
Q M M L G F P P P L F F Q I C W R F V S p.580
. | 13 . . . . . g.38512
CCCGCCATCATCTTC | TTTATTCTAGTTTTCACTGTGATCCAGTACCAGCCGATCACCTAC c.1800
P A I I F | F I L V F T V I Q Y Q P I T Y p.600
. . . . . . g.38572
AACCACTACCAGTACCCAGGCTGGGCCGTGGCCATTGGCTTCCTCATGGCTCTGTCCTCC c.1860
N H Y Q Y P G W A V A I G F L M A L S S p.620
. . . . . . g.38632
GTCCTCTGCATCCCCCTCTACGCCATGTTCCGGCTCTGCCGCACAGACGGGGACACCCTC c.1920
V L C I P L Y A M F R L C R T D G D T L p.640
| 14 . . . . . . g.38807
CTCCAG | CGTTTGAAAAATGCCACAAAGCCAAGCAGAGACTGGGGCCCTGCCCTCCTGGAG c.1980
L Q | R L K N A T K P S R D W G P A L L E p.660
. . . . . . g.38867
CACCGGACAGGGCGCTACGCCCCCACCATAGCCCCCTCTCCTGAGGACGGCTTCGAGGTC c.2040
H R T G R Y A P T I A P S P E D G F E V p.680
. . . . . . g.38927
CAGCCACTGCACCCGGACAAGGCGCAGATCCCCATTGTGGGCAGTAATGGCTCCAGCCGC c.2100
Q P L H P D K A Q I P I V G S N G S S R p.700
. . g.38948
CTCCAGGACTCCCGGATATGA c.2121
L Q D S R I X p.706
. . . . . . g.39008
gcacagctgccaggggagtggccccacccccaccccgtgctcccaccgcagagactggtg c.*60
. . . . . . g.39068
aggcagaggccaggtgtctctgcctgccccctgccacgccctggccaggacggctgctgt c.*120
. . . . . . g.39128
caccttggtcaccactgctagtgcagtcattcatgctcatgtccccagtgtttacatgtc c.*180
. . . . . . g.39188
ctttggatgccaagatagcagctggggggaggggtgggagtggagggttgctgggaggtc c.*240
. . . . . . g.39248
caaagcactttggaggggtctcgggccaggtccccagcagcctggatggctttacgtggc c.*300
. . . . . . g.39308
ctccgatacccttataccctgccctgagctgaggttctgggtgggcctccagccccatga c.*360
. . . . . . g.39368
ctagtgctcctgccctcagagccgaccccagcctctgccaggcacatttggctattcctc c.*420
. . . . . . g.39428
cctaggggcaggatgaagggctgggggactgcccagtgttacttgtcaggctgtgctgcc c.*480
. . . . . . g.39488
cagccctgtttatctgtgtaattatttttgtaaacattgtattctctgtggtcgccacct c.*540
. . . . . . g.39548
cctcgcccccagcctcgggttcagtctgtcttccaggcctgcttgcacctcactgggctg c.*600
. . . . . . g.39608
ctccggggtctctgcccctcattccaggcctggctgtcaggcccagccagcaggggcccg c.*660
. . . . . . g.39668
tgacccagcagcctgcccaaagcatttgtttctgggggatggggtgggggctgctccaca c.*720
. . . . . . g.39728
ggaggtttgagcccagcaccctggggaaggggaccctgcacgacacccccttgccctccc c.*780
. . . . . . g.39788
tccatgaggctaaaggcccagtcttcccaaatgtgctgccctcgttcatgtgccaaatgg c.*840
. . . . . . g.39848
ccccagcccacatgcccctcccctctctggagtgggagccccttctgaagtgtctgaatc c.*900
. . . . . . g.39908
cctgaagtgttcatttgtccgtcctctgtgcagtgacagccccggccaagccacctctaa c.*960
. . . . . . g.39968
tcctctgtagcaataacggtgcgccgcccatccctgcccattgtgcaccactaggatttt c.*1020
. . . . g.40010
aaagtccatagattttaatgaaatttctattcctgtctctga c.*1062
(downstream sequence)
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