(used for variant description)
(last modified November 30, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006446.4 in the SLCO1B1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011745.1, covering SLCO1B1 transcript NM_006446.4.
(upstream sequence)
. . . . | 02 g.15321
aaagggtggacttgttgcagttgctgtaggattctaaatccag | g c.-61
. . . . . . g.15381
tgattgtttcaaactgagcatcaacaacaaaaacatttgtatgatatctatatttcaatc c.-1
. . . . . . g.15441
ATGGACCAAAATCAACATTTGAATAAAACAGCAGAGGCACAACCTTCAGAGAATAAGAAA c.60
M D Q N Q H L N K T A E A Q P S E N K K p.20
. . | 03 . . . . g.46492
ACAAGATACTGCAATGGATTGAAG | ATGTTCTTGGCAGCTCTGTCACTCAGCTTTATTGCT c.120
T R Y C N G L K | M F L A A L S L S F I A p.40
. . . . . . g.46552
AAGACACTAGGTGCAATTATTATGAAAAGTTCCATCATTCATATAGAACGGAGATTTGAG c.180
K T L G A I I M K S S I I H I E R R F E p.60
. . . . | 04 . . g.48397
ATATCCTCTTCTCTTGTTGGTTTTATTGACGGAAGCTTTGAAATTG | GAAATTTGCTTGTG c.240
I S S S L V G F I D G S F E I G | N L L V p.80
. . . . . . g.48457
ATTGTATTTGTGAGTTACTTTGGATCCAAACTACATAGACCAAAGTTAATTGGAATCGGT c.300
I V F V S Y F G S K L H R P K L I G I G p.100
. . . . . | 05 g.50583
TGTTTCATTATGGGAATTGGAGGTGTTTTGACTGCTTTGCCACATTTCTTCATGGGATA | T c.360
C F I M G I G G V L T A L P H F F M G Y | p.120
. . . . . . g.50643
TACAGGTATTCTAAAGAAACTAATATCAATTCATCAGAAAATTCAACATCGACCTTATCC c.420
Y R Y S K E T N I N S S E N S T S T L S p.140
. . . . . . g.50703
ACTTGTTTAATTAATCAAATTTTATCACTCAATAGAGCATCACCTGAGATAGTGGGAAAA c.480
T C L I N Q I L S L N R A S P E I V G K p.160
| 06 . . . . . . g.52441
G | GTTGTTTAAAGGAATCTGGGTCATACATGTGGATATATGTGTTCATGGGTAATATGCTT c.540
G | C L K E S G S Y M W I Y V F M G N M L p.180
. . . . . . g.52501
CGTGGAATAGGGGAGACTCCCATAGTACCATTGGGGCTTTCTTACATTGATGATTTCGCT c.600
R G I G E T P I V P L G L S Y I D D F A p.200
. . | 07 . . . g.52760
AAAGAAGGACATTCTTCTTTGTATTTAG | GTATATTGAATGCAATAGCAATGATTGGTCCA c.660
K E G H S S L Y L G | I L N A I A M I G P p.220
. . . . . . g.52820
ATCATTGGCTTTACCCTGGGATCTCTGTTTTCTAAAATGTACGTGGATATTGGATATGTA c.720
I I G F T L G S L F S K M Y V D I G Y V p.240
| 08. . . . . . g.70805
GATCTAA | GCACTATCAGGATAACTCCTACTGATTCTCGATGGGTTGGAGCTTGGTGGCTT c.780
D L S | T I R I T P T D S R W V G A W W L p.260
. . . . . . g.70865
AATTTCCTTGTGTCTGGACTATTCTCCATTATTTCTTCCATACCATTCTTTTTCTTGCCC c.840
N F L V S G L F S I I S S I P F F F L P p.280
. . . . . . g.70925
CAAACTCCAAATAAACCACAAAAAGAAAGAAAAGCTTCACTGTCTTTGCATGTGCTGGAA c.900
Q T P N K P Q K E R K A S L S L H V L E p.300
. . . . . . g.70985
ACAAATGATGAAAAGGATCAAACAGCTAATTTGACCAATCAAGGAAAAAATATTACCAAA c.960
T N D E K D Q T A N L T N Q G K N I T K p.320
. | 09 . . . . . g.74364
AATGTGACTG | GTTTTTTCCAGTCTTTTAAAAGCATCCTTACTAATCCCCTGTATGTTATG c.1020
N V T G | F F Q S F K S I L T N P L Y V M p.340
. . . . . . g.74424
TTTGTGCTTTTGACGTTGTTACAAGTAAGCAGCTATATTGGTGCTTTTACTTATGTCTTC c.1080
F V L L T L L Q V S S Y I G A F T Y V F p.360
. . . . . | 10 . g.76302
AAATACGTAGAGCAACAGTATGGTCAGCCTTCATCTAAGGCTAACATCTTATTGG | GAGTC c.1140
K Y V E Q Q Y G Q P S S K A N I L L G | V p.380
. . . . . . g.76362
ATAACCATACCTATTTTTGCAAGTGGAATGTTTTTAGGAGGATATATCATTAAAAAATTC c.1200
I T I P I F A S G M F L G G Y I I K K F p.400
. . . . . . g.76422
AAACTGAACACCGTTGGAATTGCCAAATTCTCATGTTTTACTGCTGTGATGTCATTGTCC c.1260
K L N T V G I A K F S C F T A V M S L S p.420
. . . . . . g.76482
TTTTACCTATTATATTTTTTCATACTCTGTGAAAACAAATCAGTTGCCGGACTAACCATG c.1320
F Y L L Y F F I L C E N K S V A G L T M p.440
. | 11 . . . . . g.79723
ACCTATGATGG | AAATAATCCAGTGACATCTCATAGAGATGTACCACTTTCTTATTGCAAC c.1380
T Y D G | N N P V T S H R D V P L S Y C N p.460
. . . . . . g.79783
TCAGACTGCAATTGTGATGAAAGTCAATGGGAACCAGTCTGTGGAAACAATGGAATAACT c.1440
S D C N C D E S Q W E P V C G N N G I T p.480
. . . . . | 12. g.90928
TACATCTCACCCTGTCTAGCAGGTTGCAAATCTTCAAGTGGCAATAAAAAGCCTATA | GTG c.1500
Y I S P C L A G C K S S S G N K K P I | V p.500
. . . . . . g.90988
TTTTACAACTGCAGTTGTTTGGAAGTAACTGGTCTCCAGAACAGAAATTACTCAGCCCAT c.1560
F Y N C S C L E V T G L Q N R N Y S A H p.520
. . . . . . g.91048
TTGGGTGAATGCCCAAGAGATGATGCTTGTACAAGGAAATTTTACTTTTTTGTTGCAATA c.1620
L G E C P R D D A C T R K F Y F F V A I p.540
. . . . . . g.91108
CAAGTCTTGAATTTATTTTTCTCTGCACTTGGAGGCACCTCACATGTCATGCTGATTGTT c.1680
Q V L N L F F S A L G G T S H V M L I V p.560
| 13 . . . . . . g.96164
AA | AATTGTTCAACCTGAATTGAAATCACTTGCACTGGGTTTCCACTCAATGGTTATACGA c.1740
K | I V Q P E L K S L A L G F H S M V I R p.580
| 14. . . . . . g.98581
GCACTAG | GAGGAATTCTAGCTCCAATATATTTTGGGGCTCTGATTGATACAACGTGTATA c.1800
A L G | G I L A P I Y F G A L I D T T C I p.600
. . . . . . g.98641
AAGTGGTCCACCAACAACTGTGGCACACGTGGGTCATGTAGGACATATAATTCCACATCA c.1860
K W S T N N C G T R G S C R T Y N S T S p.620
| 15 . . . . . . g.112840
TTTTC | AAGGGTCTACTTGGGCTTGTCTTCAATGTTAAGAGTCTCATCACTTGTTTTATAT c.1920
F S | R V Y L G L S S M L R V S S L V L Y p.640
. . . . . . g.112900
ATTATATTAATTTATGCCATGAAGAAAAAATATCAAGAGAAAGATATCAATGCATCAGAA c.1980
I I L I Y A M K K K Y Q E K D I N A S E p.660
. . . . . . g.112960
AATGGAAGTGTCATGGATGAAGCAAACTTAGAATCCTTAAATAAAAATAAACATTTTGTC c.2040
N G S V M D E A N L E S L N K N K H F V p.680
. . . g.112996
CCTTCTGCTGGGGCAGATAGTGAAACACATTGTTAA c.2076
P S A G A D S E T H C X p.691
. . . . . . g.113056
ggggagaaaaaaagccacttctgcttctgtgtttccaaacagcattgcattgattcagta c.*60
. . . . . . g.113116
agatgttatttttgaggagttcctggtcctttcactaagaatttccacatcttttatggt c.*120
. . . . . . g.113176
ggaagtataaataagcctatgaacttataataaaacaaactgtaggtagaaaaaatgaga c.*180
. . . . . . g.113236
gtactcattgttacattatagctacatatttgtggttaaggttagactatatgatccata c.*240
. . . . . . g.113296
caaattaaagtgagagacatggttactgtgtaataaaagaaaaaatacttgttcaggtaa c.*300
. . . . . . g.113356
ttctaattcttaataaaacaaatgagtatcatacaggtagaggttaaaaaggaggagcta c.*360
. . . . . . g.113416
gattcatatcctaagtaaagagaaatgcctagtgtctattttattaaacaaacaaacaca c.*420
. . . . . . g.113476
gagtttgaactataatactaaggcctgaagtctagcttggatatatgctacaataatatc c.*480
. . . . . . g.113536
tgttactcacataaaattatatatttcacagactttatcaatgtataattaacaattatc c.*540
. . . . . . g.113596
ttgtttaagtaaatttagaatacatttaagtattgtggaagaaataaagacattccaata c.*600
g.113603
tttgcaa c.*607
(downstream sequence)
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