(used for variant description)
(last modified October 31, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_144643.2 in the SCLT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering SCLT1 transcript NM_144643.2.
(upstream sequence)
. . g.5026
gcaagaggcgccaccgtctccaagga c.-481
. . . . . . g.5086
gtggtccggggcaccggtttcaaagtcgcagggcgggccgagtggacttccgctgctggc c.-421
. . . . . . g.5146
ctggggcttcccagccgtcttggcgttgtcctctccaacccccgccgctccgcgtagaac c.-361
. . . . . . g.5206
gccgctctcaggctgccgtcaagctcccgcggcactctcctaggtggcccgacgagaccc c.-301
. . . . . . g.5266
agagtgacccgcgggacgcctgtatcgaccgcgtcctcttcccaccagcgtgggattcgg c.-241
. . . . . . g.5326
ttgaacgtggagtccccagcaatcttcagtctctcaccagggccagggactcgtctgggg c.-181
. . . . . . g.5386
cgcgggggaaagaagcgtggcggggctgtagatgccgcgtgagtaggatgcagattgcac c.-121
. . . . . . g.5446
cgctggagcgcttgacaaccaaccgagcgttggcttagttttgttttcccgcacagcaag c.-61
. . . . . . g.5506
ctctctgtctttcagaggaaggtaaaggtggtgaaagctctaaactaaaattgtatcgaa c.-1
. . . | 02 . . . g.16262
ATGGCTGCAGAAATCGACTTTCTGAGAGAGCAAA | ATCGAAGACTAAATGAAGATTTTAGG c.60
M A A E I D F L R E Q N | R R L N E D F R p.20
. . . . | 03 . . g.54576
CGGTATCAAATGGAAAGTTTTTCCAAATATTCATCTGTACAG | AAAGCTGTCTGCCAAGGA c.120
R Y Q M E S F S K Y S S V Q | K A V C Q G p.40
. . . . | 04 . . g.55161
GAAGGAGACGACACATTTGAAAACCTAGTATTTGACCAAAG | CTTTTTAGCTCCTCTTGTT c.180
E G D D T F E N L V F D Q S | F L A P L V p.60
. . . . . | 05 . g.59519
ACTGAGTATGATAAACACCTAGGAGAACTAAATGGGCAGCTGAAATATTACCAG | AAACAG c.240
T E Y D K H L G E L N G Q L K Y Y Q | K Q p.80
. . . . . | 06 . g.94743
GTGGGTGAGATGAAATTACAACTTGAAAATGTCATCAAGGAAAATGAAAG | GTTGCACAGT c.300
V G E M K L Q L E N V I K E N E R | L H S p.100
. . . . . . g.94803
GAATTAAAAGATGCTGTTGAAAAAAAATTGGAGGCCTTTCCCCTGGGCACAGAGGTAGGA c.360
E L K D A V E K K L E A F P L G T E V G p.120
. . . . . . g.94863
ACTGACATATATGCAGATGATGAAACAGTCAGAAACCTTCAAGAACAATTGCAGCTAGCC c.420
T D I Y A D D E T V R N L Q E Q L Q L A p.140
| 07 . . . . . . g.98869
AATCAA | GAAAAAACTCAGGCTGTGGAACTCTGGCAGACTGTTTCTCAGGAGTTGGACAGA c.480
N Q | E K T Q A V E L W Q T V S Q E L D R p.160
. . . . . . g.98929
CTACACAAGCTTTACCAGGAACATATGACTGAGGCCCAGATTCATGTATTTGAAAGTCAA c.540
L H K L Y Q E H M T E A Q I H V F E S Q p.180
| 08 . . . . . g.100721
AAACAAAAG | GATCAGCTATTTGATTTTCAACAACTGACCAAACAACTTCATGTTACTAAT c.600
K Q K | D Q L F D F Q Q L T K Q L H V T N p.200
. | 09 . . . . . g.106417
GAGAACATGGAAGTG | ACTAACCAACAGTTTCTGAAAACAGTAACTGAACAAAGTGTGATA c.660
E N M E V | T N Q Q F L K T V T E Q S V I p.220
. . | 10 . . . . g.128175
ATCGAACAACTCCGAAAAAAACTTAG | GCAAGCCAAATTAGAGCTGAGAGTTGCTGTAGCA c.720
I E Q L R K K L R | Q A K L E L R V A V A p.240
. . . . . | 11. g.133294
AAAGTGGAAGAGTTAACTAATGTGACTGAAGATCTGCAGGGACAGATGAAAAAGAAG | GAG c.780
K V E E L T N V T E D L Q G Q M K K K | E p.260
. . . . . . g.133354
AAGGATGTGGTGTCTGCCCATGGAAGAGAGGAAGCATCAGATAGGCGTTTACAGCAGTTA c.840
K D V V S A H G R E E A S D R R L Q Q L p.280
. . | 12 . . . g.138863
CAGTCTAGTATAAAACAATTAGAAATAAG | ATTATGTGTGACAATCCAAGAAGCCAACCAA c.900
Q S S I K Q L E I R | L C V T I Q E A N Q p.300
. . . . . . g.138923
TTAAGAACCGAAAATACACATCTGGAAAAACAGACCAGAGAGCTACAAGCAAAGTGCAAT c.960
L R T E N T H L E K Q T R E L Q A K C N p.320
. . . . . . g.138983
GAATTAGAAAATGAGAGATATGAGGCTATTGTAAGAGCCAGAAATAGCATGCAACTCTTA c.1020
E L E N E R Y E A I V R A R N S M Q L L p.340
. . | 13. . . . g.141518
GAAGAAGCTAACCTTCAAAAAAGTCAG | GCTCTACTTGAGGAGAAGCAAAAAGAAGAAGAC c.1080
E E A N L Q K S Q | A L L E E K Q K E E D p.360
. . . . . . g.141578
ATAGAGAAAATGAAAGAGACAGTTTCTCGGTTTGTACAAGATGCTACCATAAGAACCAAG c.1140
I E K M K E T V S R F V Q D A T I R T K p.380
| 14 . . . . . . g.145823
AAAGAA | GTTGCAAACACCAAAAAACAATGTAATATACAAATTTCTCGATTAACAGAAGAA c.1200
K E | V A N T K K Q C N I Q I S R L T E E p.400
. | 15 . . . . g.150081
CTTTCAGCCCTTCAAATG | GAGTGTGCTGAAAAACAAGGCCAAATTGAACGAGTCATTAAG c.1260
L S A L Q M | E C A E K Q G Q I E R V I K p.420
. . . | 16 . . . g.152484
GAAAAAAAAGCAGTGGAAGAAGAACTAGAAAAG | ATTTACCGTGAAGGCAGAGGAAATGAG c.1320
E K K A V E E E L E K | I Y R E G R G N E p.440
. . . . . . g.152544
AGTGATTACAGAAAACTGGAAGAAATGCACCAAAGATTCCTGGTTTCAGAGCGTTCAAAA c.1380
S D Y R K L E E M H Q R F L V S E R S K p.460
. . . . . | 17 g.155422
GATGATCTTCAGCTAAGACTTACGAGAGCAGAAAATAGAATAAAACAACTTGAAACTGA | C c.1440
D D L Q L R L T R A E N R I K Q L E T D | p.480
. . . . . . g.155482
TCCTCAGAAGAAATATCACGTTACCAAGAAATGATTCAGAAACTTCAAAATGTATTGGAG c.1500
S S E E I S R Y Q E M I Q K L Q N V L E p.500
. . . . . . g.155542
TCTGAGAGAGAGAACTGTGGGCTTGTCAGTGAACAAAGGCTAAAACTTCAGCAAGAAAAT c.1560
S E R E N C G L V S E Q R L K L Q Q E N p.520
. . . . . . g.155602
AAACAGTTACGGAAAGAGACTGAGAGTTTAAGGAAGATTGCCCTGGAGGCTCAAAAAAAA c.1620
K Q L R K E T E S L R K I A L E A Q K K p.540
. | 18 . . . . . g.161806
GCCAAAGTAAAG | ATCAGTACAATGGAACATGAATTTTCAATAAAGGAACGTGGATTTGAA c.1680
A K V K | I S T M E H E F S I K E R G F E p.560
. . . . . . g.161866
GTTCAATTGAGAGAGATGGAAGACAGTAATAGAAATTCCATTGTTGAACTGAGGCATCTC c.1740
V Q L R E M E D S N R N S I V E L R H L p.580
. . . . . . g.161926
CTAGCGACTCAACAGAAGGCAGCCAATAGGTGGAAAGAAGAAACGAAGAAACTTACTGAA c.1800
L A T Q Q K A A N R W K E E T K K L T E p.600
. . | 19 . . . g.207503
AGTGCAGAAATTAGAATCAATAATCTAAA | GAGTGAGCTGAGTCGACAGAAACTTCATACC c.1860
S A E I R I N N L K | S E L S R Q K L H T p.620
. . . . | 20 . g.209847
CAAGAGCTGCTTTCTCAGCTGGAAATGGCAAATGAAAAGGTAGCTGAG | AATGAAAAGCTA c.1920
Q E L L S Q L E M A N E K V A E | N E K L p.640
. . . . . . g.209907
ATTCTAGAGCATCAAGAAAAAGCCAACAGACTTCAAAGGCGTCTAAGTCAGGCAGAAGAG c.1980
I L E H Q E K A N R L Q R R L S Q A E E p.660
. . | 21 . . . . g.214106
AGAGCTGCTTCAGCTTCCCAGCAG | CTCAGTGTGATTACAGTGCAGAGAAGAAAAGCAGCC c.2040
R A A S A S Q Q | L S V I T V Q R R K A A p.680
. . g.214133
TCCCTGATGAATCTGGAAAATATTTAA c.2067
S L M N L E N I X p.688
. . . . . . g.214193
aaatattcatagttcactcacagaactttagagttgggaaagcagttggactagaagtgt c.*60
. . . . . . g.214253
attgaaatggtaaagcctgcaaagtataatagttaaggcttgtgttatttcgcgtaagca c.*120
. . . . . . g.214313
ttgttgttctgttttgagggttattggaaaacagagcagtgaccacttcctgtaagtaaa c.*180
. . . . . . g.214373
gaaaatataatcctatattgagcttcagtggagaataaaccagctgagaagaactcattg c.*240
. . . . . . g.214433
ccttcatcaatgtgtctgttttttaattcctcctttttcccttgaaaggacataataatt c.*300
. . . . . . g.214493
ttcaaactatgcaaatttctctttcataagaaagagtttttaagaaaattctagaattta c.*360
. . . . . . g.214553
atatttcagtttccaagatttgagaattttacatctaattgttacttctaactcattttt c.*420
. . . . . . g.214613
aaagttcctaagtatccattttattatgaactcataaatgtaataaattgtgcactttct c.*480
(downstream sequence)
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