(used for variant description)
(last modified June 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_018641.4 in the CHST12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029854.1, covering CHST12 transcript NM_018641.4.
(upstream sequence)
. g.5011
gctcctgcgcc c.-181
. . . . . . g.5071
gggggcggggccggcgagggctgcctctggggggtccgctagtcgcggggcggcggcggc c.-121
. . . . . | 02 . g.34020
ggctgcgggcgcgaggtgaggggcgcgaggtgagggtcgcgag | gttcccagcaggatgcc c.-61
. . . . . . g.34080
ccggctctgcaggaagctgaagtgagaggcccggagagggcccagcccgcccggggcagg c.-1
. . . . . . g.34140
ATGACCAAGGCCCGGCTGTTCCGGCTGTGGCTGGTGCTGGGGTCGGTGTTCATGATCCTG c.60
M T K A R L F R L W L V L G S V F M I L p.20
. . . . . . g.34200
CTGATCATCGTGTACTGGGACAGCGCAGGCGCCGCGCACTTCTACTTGCACACGTCCTTC c.120
L I I V Y W D S A G A A H F Y L H T S F p.40
. . . . . . g.34260
TCTAGGCCGCACACGGGGCCGCCGCTGCCCACGCCCGGGCCGGACAGGGACAGGGAGCTC c.180
S R P H T G P P L P T P G P D R D R E L p.60
. . . . . . g.34320
ACGGCCGACTCCGATGTCGACGAGTTTCTGGACAAGTTTCTCAGTGCTGGCGTGAAGCAG c.240
T A D S D V D E F L D K F L S A G V K Q p.80
. . . . . . g.34380
AGCGACCTTCCCAGAAAGGAGACGGAGCAGCCGCCTGCGCCGGGGAGCATGGAGGAGAGC c.300
S D L P R K E T E Q P P A P G S M E E S p.100
. . . . . . g.34440
GTGAGAGGCTACGACTGGTCCCCGCGCGACGCCCGGCGCAGCCCAGACCAGGGCCGGCAG c.360
V R G Y D W S P R D A R R S P D Q G R Q p.120
. . . . . . g.34500
CAGGCGGAGCGGAGGAGCGTGCTGCGGGGCTTCTGCGCCAACTCCAGCCTGGCCTTCCCC c.420
Q A E R R S V L R G F C A N S S L A F P p.140
. . . . . . g.34560
ACCAAGGAGCGCGCATTCGACGACATCCCCAACTCGGAGCTGAGCCACCTGATCGTGGAC c.480
T K E R A F D D I P N S E L S H L I V D p.160
. . . . . . g.34620
GACCGGCACGGGGCCATCTACTGCTACGTGCCCAAGGTGGCCTGCACCAACTGGAAGCGC c.540
D R H G A I Y C Y V P K V A C T N W K R p.180
. . . . . . g.34680
GTGATGATCGTGCTGAGCGGAAGCCTGCTGCACCGCGGTGCGCCCTACCGCGACCCGCTG c.600
V M I V L S G S L L H R G A P Y R D P L p.200
. . . . . . g.34740
CGCATCCCGCGCGAGCACGTGCACAACGCCAGCGCGCACCTGACCTTCAACAAGTTCTGG c.660
R I P R E H V H N A S A H L T F N K F W p.220
. . . . . . g.34800
CGCCGCTACGGGAAGCTCTCCCGCCACCTCATGAAGGTCAAGCTCAAGAAGTACACCAAG c.720
R R Y G K L S R H L M K V K L K K Y T K p.240
. . . . . . g.34860
TTCCTCTTCGTGCGCGACCCCTTCGTGCGCCTGATCTCCGCCTTCCGCAGCAAGTTCGAG c.780
F L F V R D P F V R L I S A F R S K F E p.260
. . . . . . g.34920
CTGGAGAACGAGGAGTTCTACCGCAAGTTCGCCGTGCCCATGCTGCGGCTGTACGCCAAC c.840
L E N E E F Y R K F A V P M L R L Y A N p.280
. . . . . . g.34980
CACACCAGCCTGCCCGCCTCGGCGCGCGAGGCCTTCCGCGCTGGCCTCAAGGTGTCCTTC c.900
H T S L P A S A R E A F R A G L K V S F p.300
. . . . . . g.35040
GCCAACTTCATCCAGTACCTGCTGGACCCGCACACGGAGAAGCTGGCGCCCTTCAACGAG c.960
A N F I Q Y L L D P H T E K L A P F N E p.320
. . . . . . g.35100
CACTGGCGGCAGGTGTACCGCCTCTGCCACCCGTGCCAGATCGACTACGACTTCGTGGGG c.1020
H W R Q V Y R L C H P C Q I D Y D F V G p.340
. . . . . . g.35160
AAGCTGGAGACTCTGGACGAGGACGCCGCGCAGCTGCTGCAGCTACTCCAGGTGGACCGG c.1080
K L E T L D E D A A Q L L Q L L Q V D R p.360
. . . . . . g.35220
CAGCTCCGCTTCCCCCCGAGCTACCGGAACAGGACCGCCAGCAGCTGGGAGGAGGACTGG c.1140
Q L R F P P S Y R N R T A S S W E E D W p.380
. . . . . . g.35280
TTCGCCAAGATCCCCCTGGCCTGGAGGCAGCAGCTGTATAAACTCTACGAGGCCGACTTT c.1200
F A K I P L A W R Q Q L Y K L Y E A D F p.400
. . . . g.35325
GTTCTCTTCGGCTACCCCAAGCCCGAAAACCTCCTCCGAGACTGA c.1245
V L F G Y P K P E N L L R D X p.414
. . . . . . g.35385
aagctttcgcgttgctttttctcgcgtgcctggaacctgacgcacgcgcactccagtttt c.*60
. . . . . . g.35445
tttatgacctacgattttgcaatctgggcttcttgttcactccactgcctctatccattg c.*120
. . . . . . g.35505
agtactgtatcgatattgttttttaagattaatatatttcaggtatttaatacgaaatgt c.*180
. . . . . . g.35565
ggaagggaatgctggagtaaaatatcccctctcccctccgcccgcccacccgcccgcccg c.*240
. . . . . . g.35625
ctcgcccgctcgcccgctcctgtggtttttctgagcgtgcgggcgccgggaggggatgct c.*300
. . . . . . g.35685
gaggctgatggagctgcctccagggctagggccactcaccggaggagggcggggcctgca c.*360
. . . . . . g.35745
cttgaagtcaggccgcacctgtctgtttttggaagggtagccgacaaatccttccagagg c.*420
. . . . . . g.35805
gaaagttctttgtttaagtgttgtacttgaaaaggtcaatcttcagggcttcctgtttga c.*480
. . . . . . g.35865
agtcaagtcagaggtaaaccggtcagttacagaagcaggatttctaggatttctaactcc c.*540
. . . . . . g.35925
agctgttcccatactgtctagtttaaattatggctgttaaggccgggcgggtgactcagg c.*600
. . . . . . g.35985
caggtaatcccagaactttgggaggcccagacagaaggatcgcttgaggtcaggaatttg c.*660
. . . . . . g.36045
agacctggccaacatggtgaaaccctgtctctactaaaaaaaaaaaaaaaaaaaaaaaaa c.*720
g.36048
aaa c.*723
(downstream sequence)
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