(used for variant description)
(last modified February 9, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_001163692.1 in the UBAP1L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering UBAP1L transcript NM_001163692.1.
(upstream sequence)
. . g.5024
ctgtttggggctcagctaagtgac c.-121
. . . . . . g.5084
cacacaggagagcagtgaggccatttgaggcctgagcctggtcctcaggactcgactctc c.-61
. . . . . . g.5144
tctccctgccatcaagcagcctgccccagccctgccagccatctccacactcctgacaga c.-1
. . . . . . g.5204
ATGAATGCCCTCGATGGTGTTCCTTTCAAGTTGCCCAAGGGCTTTGTGATAGGCACAGAG c.60
M N A L D G V P F K L P K G F V I G T E p.20
. . . . . . g.5264
CCTCTCCCTGGGCCAGAACTCAGCGTCCCGGCCTGCGGGGAAGTTCTGCTGGGTTCTATG c.120
P L P G P E L S V P A C G E V L L G S M p.40
| 02 . . . . . . g.8735
| CACGACTTCAGCCTGGAGAGGACGGCACTCTTCTGGGTGGAGGCCGCCGGCCAGGGACCC c.180
| H D F S L E R T A L F W V E A A G Q G P p.60
. . . . . . g.8795
AGCCCGTACCAGTGCGGTGACCCGGGGACAGCGTCAGCCCCTCCAGCCTGGCTCTTGCTA c.240
S P Y Q C G D P G T A S A P P A W L L L p.80
. . . . . . g.8855
GTCAGCCCCGAACATGGGCTGGCGCCTGCGCCCACCACAATCAGAGACCCGGAGGCCGGA c.300
V S P E H G L A P A P T T I R D P E A G p.100
. . . . . . g.8915
CACCAGGAGAGGCCGGAGGAGGAGGGTGAGGACGAGGCAGAAGCCTCCTCTGGCAGCGAG c.360
H Q E R P E E E G E D E A E A S S G S E p.120
. . . . . . g.8975
GAAGAGCCGGCCCCCAGCAGCCTCCAACCGGGCTCCCCGGCGAGCCCCGGCCCCGGCCGT c.420
E E P A P S S L Q P G S P A S P G P G R p.140
. . . . . . g.9035
CGCCTGTGCTCGCTGGACGTGCTACGCGGCGTGCGGTTGGAGCTGGCAGGGGCGCGGCGG c.480
R L C S L D V L R G V R L E L A G A R R p.160
. . . . . . g.9095
CGGCTCTCCGAGGGGAAGCTGGTCTCCCGGCCCCGCGCCCTCCTGCATGGCCTCCGCGGC c.540
R L S E G K L V S R P R A L L H G L R G p.180
. . . . . . g.9155
CACCGCGCGCTGAGCCTGTGCCCGAGCCCTGCGCAGTCCCCCAGGTCTGCATCACCCCCG c.600
H R A L S L C P S P A Q S P R S A S P P p.200
. . . . . . g.9215
GGGCCCGCGCCCCAGCACCCCGCCGCCCCCGCGTCGCCCCCGCGGCCCTCCACGGCAGGC c.660
G P A P Q H P A A P A S P P R P S T A G p.220
. . . | 03 . . g.11666
GCCATCCCCCCGCTGCGGAGCCACAAGCCTACGGTCGCG | TCCCTCAGCCCGTACACCTGT c.720
A I P P L R S H K P T V A | S L S P Y T C p.240
. . . . . . g.11726
CTGCCACCTCTTGGGGGGGCACCCCAACCTCTCAACCCCCACAAGTCACACCCTGATACT c.780
L P P L G G A P Q P L N P H K S H P D T p.260
. . . . . . g.11786
GCGGCTGACCTGCTGTCCGCCCTGAGCCAGGAGGAGCAAGACCTCATTGGGCCAGTGGTC c.840
A A D L L S A L S Q E E Q D L I G P V V p.280
. . . . . . g.11846
GCCCTGGGATATCCCCTGCGAAGGGCCATCATAGCTCTGCAGAAGACAGGGAGGCAGAGC c.900
A L G Y P L R R A I I A L Q K T G R Q S p.300
| 04 . . . . . g.16834
CTGAGCCAG | TTTCTCAGCTACCTCAGTGCCTGTGACCGCCTGTTACGTCAGGGATATGAG c.960
L S Q | F L S Y L S A C D R L L R Q G Y E p.320
. . . . . | 05 . g.18137
GAAGGCCTGGTGGATGAGGCCATGGAGATGTTCCAGTTCTCCGAGAGCCAG | GCAGGGGAG c.1020
E G L V D E A M E M F Q F S E S Q | A G E p.340
. . . . . . g.18197
TTCCTGCGCCTCTGGGAGCAGTTCAGTGACATGGGCTTCCAGCAGGACCGGATCAAGGAG c.1080
F L R L W E Q F S D M G F Q Q D R I K E p.360
. . . . . . g.18257
GTGCTGCTGGTCCATGGCAACCGCCGAGAGCAAGCCCTGGAGGAGCTGGTGGCCTGTGCC c.1140
V L L V H G N R R E Q A L E E L V A C A p.380
g.18263
CAGTGA c.1146
Q X p.381
. . . . . . g.18323
ccacggaggcactccacgatgcctgggcatctaggcccaatgccagacctggcaacccat c.*60
. . . g.18356
cctaactgtattattaaaaccaagtaagagtaa c.*93
(downstream sequence)
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