(used for variant description)
(last modified May 1, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_018294.4 in the CWF19L1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering CWF19L1 transcript NM_018294.4.
(upstream sequence)
. . g.5027
gattgttgcgcggtcgcatttttccgg c.-61
. . . . . . g.5087
ggagcgcggattcgcattcccaattttaggtggcagtcgcaacccatactattcggacag c.-1
. . | 02 . . . . g.10654
ATGGCACAGAAACCGCTGCGCCT | CTTGGCTTGTGGAGATGTTGAAGGAAAGTTTGATATT c.60
M A Q K P L R L | L A C G D V E G K F D I p.20
. . . . | 03 . g.11648
TTATTCAATAGAGTTCAAGCAATTCAGAAGAAAAGTGGAAACTTTGAT | CTGCTGTTGTGT c.120
L F N R V Q A I Q K K S G N F D | L L L C p.40
. . . . . . g.11708
GTAGGAAATTTCTTTGGCTCCACCCAAGATGCTGAATGGGAGGAGTATAAGACTGGCATC c.180
V G N F F G S T Q D A E W E E Y K T G I p.60
| 04. . . . . . g.12414
AAGAAAG | CTCCTATTCAGACATATGTGCTTGGTGCTAATAACCAGGAAACAGTAAAATAT c.240
K K A | P I Q T Y V L G A N N Q E T V K Y p.80
. . . . | 05 . g.16215
TTCCAGGATGCTGATGGATGTGAATTAGCTGAAAACATTACTTATCTGG | GTCGTAAAGGT c.300
F Q D A D G C E L A E N I T Y L G | R K G p.100
. . . . . . g.16275
ATCTTCACTGGAAGCTCGGGGCTGCAGATTGTGTACCTCAGTGGGACAGAATCCTTAAAT c.360
I F T G S S G L Q I V Y L S G T E S L N p.120
. . . . . . g.16335
GAGCCAGTACCAGGTTATAGTTTTAGTCCCAAGGATGTGTCTTCTCTGAGAATGATGCTG c.420
E P V P G Y S F S P K D V S S L R M M L p.140
. . . . . . g.16395
TGTACAACCTCCCAGTTTAAGGGTGTTGATATCTTGCTCACATCCCCATGGCCCAAGTGT c.480
C T T S Q F K G V D I L L T S P W P K C p.160
. . | 06 . . . . g.19177
GTGGGGAACTTTGGGAATTCTTCT | GGAGAAGTGGATACCAAAAAATGTGGTTCTGCTTTG c.540
V G N F G N S S | G E V D T K K C G S A L p.180
. . . . . . g.19237
GTTTCCAGTCTTGCCACGGGCTTGAAACCAAGATACCATTTTGCTGCTTTGGAAAAGACC c.600
V S S L A T G L K P R Y H F A A L E K T p.200
. . | 07 . . . . g.22385
TATTATGAGAGGCTTCCATATCG | AAACCATATCATTCTACAGGAAAATGCACAGCATGCC c.660
Y Y E R L P Y R | N H I I L Q E N A Q H A p.220
. . . . | 08 . g.25757
ACCCGGTTTATAGCTCTGGCAAATGTTGGAAATCCAGAAAAGAAAAAG | TATCTTTACGCG c.720
T R F I A L A N V G N P E K K K | Y L Y A p.240
. . . . . . g.25817
TTCAGTATTGTTCCCATGAAGCTAATGGATGCAGCAGAACTGGTAAAACAGCCTCCGGAT c.780
F S I V P M K L M D A A E L V K Q P P D p.260
. . . . . . g.25877
GTCACTGAAAACCCTTACAGAAAATCTGGGCAGGAAGCATCCATAGGAAAGCAAATTCTT c.840
V T E N P Y R K S G Q E A S I G K Q I L p.280
| 09 . . . . . g.26818
GCCCCTGTG | GAAGAATCAGCCTGTCAGTTTTTCTTTGATTTAAATGAAAAGCAGGGAAGG c.900
A P V | E E S A C Q F F F D L N E K Q G R p.300
. . . . . . g.26878
AAGCGTTCATCCACAGGTAGAGATAGCAAATCTTCTCCTCATCCAAAGCAGCCTCGCAAA c.960
K R S S T G R D S K S S P H P K Q P R K p.320
| 10 . . . . . . g.28959
CCTC | CTCAGCCTCCAGGACCCTGCTGGTTTTGCCTTGCTAGCCCTGAAGTGGAAAAACAT c.1020
P P | Q P P G P C W F C L A S P E V E K H p.340
. . | 11 . . . . g.34485
TTGGTGGTCAACATCGGCACACAT | TGCTACCTTGCCCTGGCCAAAGGAGGCTTATCTGAT c.1080
L V V N I G T H | C Y L A L A K G G L S D p.360
. . . . . . g.34545
GACCATGTCCTCATCCTGCCTATTGGACACTACCAGTCAGTGGTGGAGCTTTCAGCAGAG c.1140
D H V L I L P I G H Y Q S V V E L S A E p.380
. . . . . . g.34605
GTGGTAGAAGAGGTGGAGAAGTATAAGGCCACTCTGAGACGGTTCTTTAAGAGTCGAGGG c.1200
V V E E V E K Y K A T L R R F F K S R G p.400
. . . . . | 12 . g.35717
AAATGGTGTGTTGTATTTGAGAGAAATTATAAGAGCCATCACCTCCAGCTACAG | GTCATT c.1260
K W C V V F E R N Y K S H H L Q L Q | V I p.420
. . . . . . g.35777
CCTGTCCCAATCAGCTGCTCTACTACTGATGACATTAAAGATGCCTTCATTACCCAGGCA c.1320
P V P I S C S T T D D I K D A F I T Q A p.440
. . . . . | 13 . g.36922
CAGGAGCAGCAGATAGAGCTGTTGGAAATCCCAGAGCACTCTGACATCAAGCAG | ATTGCA c.1380
Q E Q Q I E L L E I P E H S D I K Q | I A p.460
. . . . . . g.36982
CAGCCAGGAGCAGCATATTTTTATGTTGAACTTGACACAGGAGAAAAGCTTTTCCACAGA c.1440
Q P G A A Y F Y V E L D T G E K L F H R p.480
. . . | 14 . . . g.39337
ATTAAAAAGAATTTTCCTTTGCAGTTTGGAAG | GGAGGTCCTGGCCAGTGAAGCCATCCTT c.1500
I K K N F P L Q F G R | E V L A S E A I L p.500
. . . . . . g.39397
AATGTTCCTGATAAGTCTGACTGGAGGCAGTGTCAGATCAGCAAGGAAGACGAGGAGACC c.1560
N V P D K S D W R Q C Q I S K E D E E T p.520
. . . . . g.39454
CTGGCTCGCCGCTTCCGGAAAGACTTTGAGCCCTATGACTTTACTCTGGATGACTAA c.1617
L A R R F R K D F E P Y D F T L D D X p.538
. . . . . . g.39514
aacaaagggaagaactttttatgaactccacaggaagtagtaaagctttttttttttttt c.*60
. . . . . . g.39574
aattaaaagaattttttttgagacaaagtctcgctctgtcacccaagcaggattgcagtg c.*120
. . . . . . g.39634
gcataactgtggctcactgtagcctcaacctcctgggctctagagttcctcccacctcag c.*180
. . . . . . g.39694
cctcatgagtagctgggaccacaggcgcatgctaccatgcctggcaaacttttttgattt c.*240
. . . . . . g.39754
tttatagagacaggagggtctccctgtgttgcccaggctggtctgtaatgcctaggctca c.*300
. . . . . . g.39814
agggatcctctgccttggcttcttaacctgctgggattacaagcatgagacaccattcct c.*360
. . . . . . g.39874
ggcctagaagcctatttttaaagaaactacaatctcccatggggactgtttccctgcctc c.*420
. . . . . . g.39934
ttttgtgcagtcccatggaacttgcctacagcaagaggcctaagattgaatctttttggg c.*480
. . . . . . g.39994
gaaaagtcattctaggatgaaaatcctatgttaaggccgggcgcagtggctcacgcctgt c.*540
. . . . . . g.40054
aatcccagtactttgggaagccgaggcaggtggatcacctgaggtgaggagtttgagacc c.*600
. . . . . . g.40114
agcctggccaacatggtgaaaccccgtctttactaaagctacaaaaattagctgggcgtg c.*660
. . . . . . g.40174
gtgccaggcacttgtaatcccagctactcaggaggctgaggcaggagaattgcttgagcc c.*720
. . . . . . g.40234
tgggaggtggaggttgcagtgagccaagatcgctccattgcactccagcctgggtgacag c.*780
. . . . . . g.40294
tgaaactccatctcaaaaataaaagaataaaagtatgtctgtcatccagctcctatgtct c.*840
. . . . . . g.40354
gttatccagctccaagtacagcttgtgtatatcaacattttcaaaaacctttaaactacc c.*900
. . g.40383
aaatgaaatccagatgtttttccatggtt c.*929
(downstream sequence)
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