(used for variant description)
(last modified June 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001127895.1 in the CHST8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029857.1, covering CHST8 transcript NM_001127895.1.
(upstream sequence)
. . g.5025
ttcgctgggagccttcccggcgcgc c.-481
. . . . . . g.5085
aagccggatccggcagtgctgcggggaggagagaggacgaggcggcggcggcagcaggag c.-421
. . . . . . g.5145
gtgggggaccgatcgcgccgggggccgaagaggaacgccgccccgcgccctctcgctccc c.-361
. . . . . . g.5205
cgcacgctccggctgccggccccacgctgctcgcccacagatcgcactgggttccgcttg c.-301
. . . . . . g.5265
gagcgggcggaggcaccgggcccgagctgggtcggaggtcctctccgccgcctgcgcgcc c.-241
. . . . . . g.5325
ccaagcagaggatccgccgcggagaaccgctcccggactggaggcgcccgcggcctcggg c.-181
. . | 02 . . . . g.50855
tgcgtccgctgcgccag | gtttaaaggtcaacaagaatatcttaccttaatttgacaagta c.-121
. . . . | 03 . . g.72247
cgcaagaaataatgcaagactcgtttatgttcag | atctcggcctgatggacgcctggtgt c.-61
. . . . . . g.72307
ggacgatgagggaagaacgtgccccccacacccaagaggtgacccctgagccagccccgg c.-1
. . . . . . g.72367
ATGACCCTGCGACCTGGAACAATGCGGCTGGCCTGCATGTTCTCTTCCATCCTGCTGTTC c.60
M T L R P G T M R L A C M F S S I L L F p.20
. . . . . . g.72427
GGAGCTGCAGGCCTCCTCCTCTTCATCAGCCTGCAGGACCCTACGGAGCTCGCCCCCCAG c.120
G A A G L L L F I S L Q D P T E L A P Q p.40
. | 04 . . . | 05 . g.155013
CAGGTGCCAG | GAATAAAGTTCAACATCAGGCCAAGGCAGCCCCACCAC | GACCTCCCACCA c.180
Q V P G | I K F N I R P R Q P H H | D L P P p.60
. . . . . . g.155073
GGCGGCTCCCAGGATGGTGACTTGAAGGAACCCACAGAGAGGGTCACTCGGGACTTATCC c.240
G G S Q D G D L K E P T E R V T R D L S p.80
. . . . . . g.155133
AGTGGGGCCCCGAGGGGCCGCAACCTGCCAGCGCCTGACCAGCCTCAACCCCCGCTGCAG c.300
S G A P R G R N L P A P D Q P Q P P L Q p.100
. . . . . . g.155193
AGGGGAACCCGTCTGCGGCTCCGCCAGCGCCGTCGCCGTCTGCTCATCAAGAAAATGCCA c.360
R G T R L R L R Q R R R R L L I K K M P p.120
. . . . . . g.155253
GCTGCGGCGACCATCCCGGCCAACAGCTCGGACGCGCCCTTCATCCGGCCGGGACCCGGG c.420
A A A T I P A N S S D A P F I R P G P G p.140
. . . . . . g.155313
ACGCTGGATGGCCGCTGGGTCAGCCTGCACCGGAGCCAGCAGGAGCGCAAGCGGGTGATG c.480
T L D G R W V S L H R S Q Q E R K R V M p.160
. . . . . . g.155373
CAGGAGGCCTGCGCCAAGTACCGGGCGAGCAGCAGCCGCCGGGCCGTCACGCCCCGCCAC c.540
Q E A C A K Y R A S S S R R A V T P R H p.180
. . . . . . g.155433
GTGTCCCGTATCTTCGTGGAGGACCGCCACCGCGTGCTCTACTGCGAGGTGCCCAAGGCC c.600
V S R I F V E D R H R V L Y C E V P K A p.200
. . . . . . g.155493
GGCTGCTCCAATTGGAAGCGGGTGCTCATGGTGCTGGCCGGCCTGGCCTCGTCCACTGCC c.660
G C S N W K R V L M V L A G L A S S T A p.220
. . . . . . g.155553
GACATCCAGCACAACACCGTCCACTATGGCAGCGCTCTCAAGCGCCTGGACACCTTCGAC c.720
D I Q H N T V H Y G S A L K R L D T F D p.240
. . . . . . g.155613
CGCCAGGGTATCTTGCACCGTCTCAGCACCTACACCAAGATGCTCTTTGTCCGCGAGCCC c.780
R Q G I L H R L S T Y T K M L F V R E P p.260
. . . . . . g.155673
TTCGAGAGGCTGGTGTCCGCCTTCCGCGACAAGTTTGAGCACCCCAACAGCTACTATCAC c.840
F E R L V S A F R D K F E H P N S Y Y H p.280
. . . . . . g.155733
CCGGTCTTCGGCAAGGCCATCCTGGCCCGGTACCGCGCCAATGCCTCTCGGGAGGCCCTG c.900
P V F G K A I L A R Y R A N A S R E A L p.300
. . . . . . g.155793
CGGACCGGCTCTGGGGTGCGTTTTCCCGAGTTCGTCCAGTACCTGCTGGACGTGCACCGG c.960
R T G S G V R F P E F V Q Y L L D V H R p.320
. . . . . . g.155853
CCCGTGGGGATGGACATTCACTGGGACCATGTCAGCCGGCTCTGCAGCCCCTGCCTCATC c.1020
P V G M D I H W D H V S R L C S P C L I p.340
. . . . . . g.155913
GACTACGATTTCGTAGGCAAGTTCGAGAGCATGGAGGACGATGCCAACTTCTTCCTGAGC c.1080
D Y D F V G K F E S M E D D A N F F L S p.360
. . . . . . g.155973
CTCATCCGCGCGCCGCGGAACCTGACCTTCCCCCGGTTCAAGGACCGGCACTCGCAGGAG c.1140
L I R A P R N L T F P R F K D R H S Q E p.380
. . . . . . g.156033
GCGCGGACCACAGCGAGGATCGCCCACCAGTACTTCGCCCAACTCTCGGCCCTGCAAAGG c.1200
A R T T A R I A H Q Y F A Q L S A L Q R p.400
. . . . . . g.156093
CAGCGCACCTACGACTTCTACTACATGGATTACCTGATGTTCAACTATTCCAAGCCCTTT c.1260
Q R T Y D F Y Y M D Y L M F N Y S K P F p.420
. g.156108
GCAGATCTGTACTGA c.1275
A D L Y X p.424
. . . . . . g.156168
ggggcgccgcagctggccggggccgccctgccccggtcactcacctgtgctcccgggcat c.*60
. . . . . . g.156228
cctcctgtccctggctcctcatcctgggagcaacagggctctgaggacgtgaggagccat c.*120
. . . . . . g.156288
cgctgtgggaggcagcaggccccgggtggggggcagaggcgcccagccttggatggggac c.*180
. . . . . . g.156348
cccagcccctggcctgtacctgtttcctcattccttggctgagggagaggctgagaactg c.*240
. . . . . . g.156408
ggcagacacccctggagctcagccgacagttttgatgagcagggaagtctgaggcccaga c.*300
. . . . . . g.156468
ggacggggggcccagcggtaagggatgtcccgcactcccttagccattgccttggaccaa c.*360
. . . . . . g.156528
accacgtggtttgcagcttttctacgagccaggggggaggttcccttggattaaggttcc c.*420
. . g.156554
aaataaagcacatggtttccagagca c.*446
(downstream sequence)
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