(used for variant description)
(last modified December 1, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_030928.3 in the CDT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028266.1, covering CDT1 transcript NM_030928.3.
(upstream sequence)
. . . . . g.5054
cccgcctcttcctcccttccttctttccttgctttcgccgcgcactccgccgcc c.-1
. . . . . . g.5114
ATGGAGCAGCGCCGCGTCACCGACTTCTTCGCGCGCCGCCGCCCCGGGCCCCCCCGCATC c.60
M E Q R R V T D F F A R R R P G P P R I p.20
. . . . . . g.5174
GCGCCGCCCAAGCTGGCCTGCCGCACCCCCAGCCCCGCCAGGCCCGCACTCCGCGCCCCG c.120
A P P K L A C R T P S P A R P A L R A P p.40
. . . . . . g.5234
GCCTCCGCTACCAGTGGCAGCCGCAAGCGCGCCCGCCCGCCCGCCGCCCCCGGACGCGAC c.180
A S A T S G S R K R A R P P A A P G R D p.60
. . . . | 02 . g.5779
CAGGCCAGGCCACCGGCCCGCAGGAGACTGCGGCTGTCGGTGGACGAG | GTTTCCAGCCCC c.240
Q A R P P A R R R L R L S V D E | V S S P p.80
. . . . . . g.5839
AGTACCCCCGAGGCCCCAGACATCCCAGCCTGCCCTTCTCCGGGCCAGAAGATAAAGAAA c.300
S T P E A P D I P A C P S P G Q K I K K p.100
. . . . . | 03 . g.5993
TCCACCCCGGCAGCAGGTCAGCCGCCCCACCTGACATCCGCGCAGGACCAG | GACACCATC c.360
S T P A A G Q P P H L T S A Q D Q | D T I p.120
. . . . . . g.6053
TCTGAGCTTGCGTCATGCCTGCAACGGGCCCGGGAGCTGGGGGCAAGAGTCCGGGCGCTG c.420
S E L A S C L Q R A R E L G A R V R A L p.140
. . . . . . g.6113
AAGGCCAGTGCCCAGGATGCTGGGGAGTCCTGCACCCCAGAGGCCGAGGGCCGCCCTGAG c.480
K A S A Q D A G E S C T P E A E G R P E p.160
| 04 . . . . . g.6714
GAGCCATG | TGGCGAGAAGGCGCCCGCCTACCAGCGCTTCCATGCCCTGGCCCAGCCCGGC c.540
E P C | G E K A P A Y Q R F H A L A Q P G p.180
. . . . . . g.6774
CTGCCGGGACTCGTGCTGCCCTACAAGTACCAGGTGCTGGCGGAGATGTTCCGCAGCATG c.600
L P G L V L P Y K Y Q V L A E M F R S M p.200
. . . . . . g.6834
GACACCATCGTGGGCATGCTCCACAACCGCTCCGAGACGCCCACCTTTGCCAAGGTCCAG c.660
D T I V G M L H N R S E T P T F A K V Q p.220
. . | 05 . . . . g.6980
CGGGGCGTCCAGGACATGATGCGTAG | GCGTTTTGAGGAGTGCAATGTTGGCCAGATCAAA c.720
R G V Q D M M R R | R F E E C N V G Q I K p.240
. . . . . . g.7040
ACCGTGTACCCGGCCTCCTACCGCTTCCGCCAGGAGCGCAGTGTCCCCACCTTCAAGGAT c.780
T V Y P A S Y R F R Q E R S V P T F K D p.260
. . . . . | 06 . g.7251
GGCACCAGGAGGTCAGATTACCAGCTCACCATCGAGCCACTGCTGGAGCAGG | AGGCTGAC c.840
G T R R S D Y Q L T I E P L L E Q E | A D p.280
. . . . . . g.7311
GGAGCAGCCCCCCAGCTCACGGCCTCGCGCCTCCTGCAGCGACGGCAGATCTTCAGCCAG c.900
G A A P Q L T A S R L L Q R R Q I F S Q p.300
. . . | 07 . . . g.7735
AAGCTGGTGGAGCATGTCAAGGAGCACCACAAG | GCCTTCCTGGCCTCCCTGAGCCCCGCC c.960
K L V E H V K E H H K | A F L A S L S P A p.320
. . . . . . g.7795
ATGGTGGTGCCGGAGGACCAGCTGACCCGCTGGCACCCGCGCTTCAACGTGGATGAAGTA c.1020
M V V P E D Q L T R W H P R F N V D E V p.340
. . . . . . g.7855
CCCGACATCGAGCCGGCCGCGCTGCCCCAGCCACCCGCCACGGAGAAGCTCACCACTGCT c.1080
P D I E P A A L P Q P P A T E K L T T A p.360
. . . . | 08 . . g.8291
CAGGAGGTGCTGGCCCGGGCCCGCAACCTGATTTCACCCAGG | ATGGAGAAGGCCTTGAGT c.1140
Q E V L A R A R N L I S P R | M E K A L S p.380
. . . . . . g.8351
CAATTGGCCCTGCGCTCTGCTGCGCCCAGCAGCCCCGGGTCTCCCAGGCCAGCACTGCCG c.1200
Q L A L R S A A P S S P G S P R P A L P p.400
. . . . . . g.8411
GCTACCCCACCAGCCACCCCGCCTGCAGCCTCTCCCAGTGCTCTGAAGGGGGTGTCCCAG c.1260
A T P P A T P P A A S P S A L K G V S Q p.420
. | 09 . . . . . g.8548
GATCTGCTGGAGCGG | ATCCGAGCCAAGGAGGCACAGAAGCAGCTGGCACAGATGACGCGG c.1320
D L L E R | I R A K E A Q K Q L A Q M T R p.440
. . . . . . g.8608
TGCCCGGAGCAGGAGCAGCGGCTGCAGCGCTTAGAACGGCTGCCTGAGCTGGCCCGCGTG c.1380
C P E Q E Q R L Q R L E R L P E L A R V p.460
. . . . . . g.8668
CTGCGGAGCGTCTTTGTGTCCGAACGCAAGCCTGCGCTCAGCATGGAGGTGGCCTGTGCC c.1440
L R S V F V S E R K P A L S M E V A C A p.480
. . . | 10. . . g.9360
AGGATGGTGGGCAGCTGTTGTACTATCATGAGCCCTG | GGGAAATGGAGAAGCACCTGCTG c.1500
R M V G S C C T I M S P G | E M E K H L L p.500
. . . . . . g.9420
CTCCTCTCCGAGCTGCTGCCGGACTGGCTCAGCCTCCACCGCATCCGCACCGACACCTAC c.1560
L L S E L L P D W L S L H R I R T D T Y p.520
. . . . . . g.9480
GTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCACTGCACGCCTGGCCCACCAGACA c.1620
V K L D K A A D L A H I T A R L A H Q T p.540
. . g.9501
CGTGCTGAGGAGGGGCTGTGA c.1641
R A E E G L X p.546
. . . . . . g.9561
gcctgggggccactgtggacagacgtgggcttcagaagctcgctggcctgggcccaccag c.*60
. . . . . . g.9621
cattttcttttatgaacatgatacactttggccttcctttccccagcgcccctgagggcc c.*120
. . . . . . g.9681
agaggcagatgtgggctgcaggctgcacagcccgagggtctctggctgcgggcggtgggc c.*180
. . . . . . g.9741
cccttcatggggctcacctggtggattcacattaaaccggtttctgtgggcacctctgtc c.*240
. . . . . . g.9801
cttgctgctggtggggaagggaagccagatccagcaccccctggggggccatcgggagtg c.*300
. . . . . . g.9861
tggctgggggtgaagggggctctgtggcaatatggggttgggtagtgtgggtggcaggcc c.*360
. . . . . . g.9921
atcccctctaatcttggaacctctgaatatgggacctcccacagcaaagggtgacttttg c.*420
. . . . . . g.9981
tcattaagaaagactggggtgggtgtggtggctcacgcctgtaaccccagcactttggga c.*480
. . . . . . g.10041
ggccaaggtgggcagatcacgaggtcaagagatcgagaccatcctggcgaacatggtgaa c.*540
. . . . . . g.10101
accccatctctactaaaaatacaaaaaattagccgggtgtggtggtgggcacctgtcgtc c.*600
. . . . . . g.10161
ccagctactagggaggctgaggcaggagaatggtgtgaacccaggaggcacagcttgcag c.*660
. . . . . . g.10221
tgagcgaagatcgcaccactgcacgcactccagcctgggtgacagagcgagactccgtct c.*720
. . . . . . g.10281
caaaaaaaaaaatttcaagactggagaggtgatcctgaattgtccagctacgccccatgt c.*780
. . . . . . g.10341
catcacagggccttcatgacagggccagagccagccagctttgaagacgcggccctgccc c.*840
. . . . . . g.10401
cgacacaggcagcctggagaagctgggcaggacaagtaggacatccctggagcctccaga c.*900
. . . . . . g.10461
agggactggcctctgcccacaccttgacttcagtatttctgacctcctaaactctaataa c.*960
. . g.10481
agtcatgcttacagccacta c.*980
(downstream sequence)
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