(used for variant description)
(last modified February 9, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_001082538.2 in the TCTN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering TCTN1 transcript NM_001082538.2.
(upstream sequence)
. . . g.5036
atccgccccctgcctcatccaggcttcgccccagtc c.-121
. . . . . . g.5096
agtctccggcagcttctcgcggcttcgcaagccccttcccgtgatgccccgcgcctggct c.-61
. . . . . . g.5156
gtcgcggttgccgggcaacgcgctgtccatgtcgcgggcctcgctgggactccctgggag c.-1
. . . . . . g.5216
ATGAGGCCGCGAGGTCTCCCGCCGCTCCTGGTGGTGCTCCTGGGCTGCTGGGCCTCCGTG c.60
M R P R G L P P L L V V L L G C W A S V p.20
. . . . . . g.5276
AGCGCCCAGACCGATGCCACCCCGGCGGTGACGACAGAGGGCCTCAACTCCACCGAGGCA c.120
S A Q T D A T P A V T T E G L N S T E A p.40
. . . . . . g.5336
GCCCTGGCCACCTTCGGAACTTTCCCGTCGACCAGGCCCCCCGGGACTCCCAGGGCTCCA c.180
A L A T F G T F P S T R P P G T P R A P p.60
. . . . | 02 . . g.10829
GGGCCCTCCTCCGGCCCCAGGCCTACCCCAGTCACGGACG | TTGCTGTTCTCTGTGTCTGT c.240
G P S S G P R P T P V T D V | A V L C V C p.80
. . . . . . g.10889
GACTTATCCCCAGCACAGTGTGACATCAACTGCTGCTGTGATCCCGACTGCAGCTCCGTG c.300
D L S P A Q C D I N C C C D P D C S S V p.100
. . . . | 03 . . g.17354
GATTTCAGTGTCTTTTCTGCCTGCTCAGTTCCAGTTGTCAC | GGGCGACAGCCAGTTTTGT c.360
D F S V F S A C S V P V V T | G D S Q F C p.120
. . . . . . g.17414
AGTCAAAAAGCAGTCATCTATTCATTGAATTTTACAGCAAACCCACCTCAAAGAGTATTT c.420
S Q K A V I Y S L N F T A N P P Q R V F p.140
. . . . . | 04 . g.19748
GAACTTGTTGACCAGATTAATCCATCTATTTTCTGCATTCATATTACAAACT | ATAAACCT c.480
E L V D Q I N P S I F C I H I T N Y | K P p.160
. . . . . . g.19808
GCATTATCCTTTATTAATCCAGAAGTACCTGATGAAAACAATTTTGATACATTGATGAAA c.540
A L S F I N P E V P D E N N F D T L M K p.180
. . . . . . g.19868
ACATCTGATGGTTTTACATTGAATGCTGAATCATATGTTTCCTTCACAACCAAACTGGAT c.600
T S D G F T L N A E S Y V S F T T K L D p.200
. . | 05 . . . . g.23481
ATTCCTACTGCTGCTAAATATGAG | TATGGGGTTCCTCTGCAGACTTCAGATTCGTTTCTG c.660
I P T A A K Y E | Y G V P L Q T S D S F L p.220
. . . . . | 06 . g.25651
AGATTTCCTTCGTCCCTGACATCATCTCTGTGCACTGATAATAACCCTGCAG | CGTTTCTG c.720
R F P S S L T S S L C T D N N P A A | F L p.240
. . . . . . g.25711
GTGAACCAGGCTGTTAAGTGCACCAGAAAAATAAATTTAGAACAGTGTGAAGAAATTGAA c.780
V N Q A V K C T R K I N L E Q C E E I E p.260
. . . . | 07 . . g.27472
GCCCTCAGCATGGCTTTTTACAGCAGCCCGGAAATTCTGAGG | GTACCTGATTCAAGAAAA c.840
A L S M A F Y S S P E I L R | V P D S R K p.280
| 08 . . . . . . g.31413
AAG | GTCCCTATCACTGTTCAGTCCATCGTCATTCAGTCTCTAAATAAAACGCTCACCCGA c.900
K | V P I T V Q S I V I Q S L N K T L T R p.300
. . . . . . g.31473
CGGGAGGACACTGATGTGCTGCAGCCGACTCTCGTCAACGCTGGACACTTTAGCCTTTGC c.960
R E D T D V L Q P T L V N A G H F S L C p.320
. | 09 . . . . g.32039
GTGAATGTTGTTCTTGAG | GTAAAGTACAGCCTCACATACACAGATGCAGGTGAAGTCACC c.1020
V N V V L E | V K Y S L T Y T D A G E V T p.340
. . . . . . g.32099
AAAGCTGATCTCTCATTCGTTCTGGGGACAGTTAGCAGCGTAGTGGTCCCACTGCAGCAA c.1080
K A D L S F V L G T V S S V V V P L Q Q p.360
. . | 10 . . . . g.32551
AAGTTTGAAATTCATTTTCTTCAG | GAAAATACCCAGCCAGTCCCTCTCAGTGGAAACCCT c.1140
K F E I H F L Q | E N T Q P V P L S G N P p.380
. . . . . | 11 . g.33232
GGTTATGTCGTGGGGCTCCCATTAGCTGCTGGATTCCAGCCTCATAAGGG | GTCTGGGATT c.1200
G Y V V G L P L A A G F Q P H K G | S G I p.400
. . . . . . g.33292
ATTCAGACCACAAATAGATATGGACAGCTTACTATTCTTCATAGCACAACTGAGCAAGAC c.1260
I Q T T N R Y G Q L T I L H S T T E Q D p.420
. . . . . . g.33352
TGCTTAGCACTGGAGGGGGTCCGGACCCCAGTATTATTTGGTTACACTATGCAATCTGGC c.1320
C L A L E G V R T P V L F G Y T M Q S G p.440
. | 12 . . . . . g.35989
TGTAAACTAAG | ACTGACTGGAGCTCTCCCGTGTCAGCTCGTAGCACAGAAGGTGAAGAGC c.1380
C K L R | L T G A L P C Q L V A Q K V K S p.460
. . . . . . g.36049
CTGCTGTGGGGCCAGGGCTTCCCAGATTACGTGGCCCCTTTTGGAAATTCCCAGGCCCAG c.1440
L L W G Q G F P D Y V A P F G N S Q A Q p.480
. . . . . | 13 . g.38175
GACATGCTGGACTGGGTGCCCATCCACTTCATCACCCAGTCATTCAACAGGAAG | CATTTT c.1500
D M L D W V P I H F I T Q S F N R K | H F p.500
. . . . . . g.38235
GTTTTGCAGGATTCCTGCCAGCTCCCAGGGGCTTTGGTTATAGAAGTGAAGTGGACTAAA c.1560
V L Q D S C Q L P G A L V I E V K W T K p.520
. . . . . . g.38295
TACGGATCCCTGCTGAATCCACAGGCCAAAATAGTCAATGTAACTGCAAATCTAATTTCA c.1620
Y G S L L N P Q A K I V N V T A N L I S p.540
. | 14 . . . . . g.38767
TCCTCCTTTCCTGAG | GCCAACTCAGGAAATGAAAGGACGATTCTTATTTCCACTGCGGTT c.1680
S S F P E | A N S G N E R T I L I S T A V p.560
. . . . . . g.38827
ACTTTTGTGGATGTGTCTGCACCTGCAGAGGCAGGCTTCAGAGCTCCACCAGCCATCAAT c.1740
T F V D V S A P A E A G F R A P P A I N p.580
. . . g.38866
GCCAGGCTGCCCTTTAACTTCTTCTTCCCGTTTGTTTGA | c.1780
A R L P F N F F F P F V X p.592
| 15 . . . . . . g.40075
c | aatgctcagatgcatcagttccttaatatacacgtgaaatttgaaaactgtacattcgg c.*60
. . g.40104
tgagattaaattttatatacaactagcaa c.*89
(downstream sequence)
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