(used for variant description)
(last modified November 7, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001037633.1 in the SIL1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008112.1, covering SIL1 transcript NM_001037633.1.
(upstream sequence)
. . g.5026
accggctcagacggtcgccgccgcgt c.-181
. . . . . . g.5086
ttgcgcagggggagctggtcgccgccgcggccgcctggaattgtgggagttgtgtctgcc c.-121
. . . | 02 . . . g.6886
actcggctgccggaggccgaag | gccagctattacttctctactgaggccaactgtgagcc c.-61
. . . . . | 03 g.75533
ctggtgtgtttcattggcaggagaagaggctaattaagtgaaactgaaag | gtccctgact c.-1
. . . . . . g.75593
ATGGCTCCCCAGAGCCTGCCTTCATCTAGGATGGCTCCTCTGGGCATGCTGCTTGGGCTG c.60
M A P Q S L P S S R M A P L G M L L G L p.20
. . . . | 04 . . g.82218
CTGATGGCCGCCTGCTTCACCTTCTGCCTCAGTCATCAGAACCTG | AAGGAGTTTGCCCTG c.120
L M A A C F T F C L S H Q N L | K E F A L p.40
. . . . . . g.82278
ACCAACCCAGAGAAGAGCAGCACCAAAGAAACAGAGAGAAAAGAAACCAAAGCCGAGGAG c.180
T N P E K S S T K E T E R K E T K A E E p.60
. . . . . . g.82338
GAGCTGGATGCCGAAGTCCTGGAGGTGTTCCACCCGACGCATGAGTGGCAGGCCCTTCAG c.240
E L D A E V L E V F H P T H E W Q A L Q p.80
| 05 . . . . . . g.152386
CCAG | GGCAGGCTGTCCCTGCAGGATCCCACGTACGGCTGAATCTTCAGACTGGGGAAAGA c.300
P G | Q A V P A G S H V R L N L Q T G E R p.100
. . . . . | 06 . g.160664
GAGGCAAAACTCCAATATGAGGACAAGTTCCGAAATAATTTGAAAGGCAAAAG | GCTGGAT c.360
E A K L Q Y E D K F R N N L K G K R | L D p.120
. . . . . . g.160724
ATCAACACCAACACCTACACATCTCAGGATCTCAAGAGTGCACTGGCAAAATTCAAGGAG c.420
I N T N T Y T S Q D L K S A L A K F K E p.140
. . . | 07 . . . g.176411
GGGGCAGAGATGGAGAGTTCAAAGGAAGACAAG | GCAAGGCAGGCTGAGGTAAAGCGGCTC c.480
G A E M E S S K E D K | A R Q A E V K R L p.160
. . . . . . g.176471
TTCCGCCCCATTGAGGAACTGAAGAAAGACTTTGATGAGCTGAATGTTGTCATTGAGACT c.540
F R P I E E L K K D F D E L N V V I E T p.180
. . . . . . g.176531
GACATGCAGATCATGGTACGGCTGATCAACAAGTTCAATAGTTCCAGCTCCAGTTTGGAA c.600
D M Q I M V R L I N K F N S S S S S L E p.200
. . . . | 08 . . g.182099
GAGAAGATTGCTGCGCTCTTTGATCTTGAATATTATGTCCATCAG | ATGGACAATGCGCAG c.660
E K I A A L F D L E Y Y V H Q | M D N A Q p.220
. . . . . . g.182159
GACCTGCTTTCCTTTGGTGGTCTTCAAGTGGTGATCAATGGGCTGAACAGCACAGAGCCC c.720
D L L S F G G L Q V V I N G L N S T E P p.240
. . . . | 09. . g.251505
CTCGTGAAGGAGTATGCTGCGTTTGTGCTGGGCGCTGCCTTTTCCAG | CAACCCCAAGGTC c.780
L V K E Y A A F V L G A A F S S | N P K V p.260
. . . . . . g.251565
CAGGTGGAGGCCATCGAAGGGGGAGCCCTGCAGAAGCTGCTGGTCATCCTGGCCACGGAG c.840
Q V E A I E G G A L Q K L L V I L A T E p.280
. . | 10 . . . . g.252077
CAGCCGCTCACTGCAAAGAAGAAG | GTCCTGTTTGCACTGTGCTCCCTGCTGCGCCACTTC c.900
Q P L T A K K K | V L F A L C S L L R H F p.300
. . . . . . g.252137
CCCTATGCCCAGCGGCAGTTCCTGAAGCTCGGGGGGCTGCAGGTCCTGAGGACCCTGGTG c.960
P Y A Q R Q F L K L G G L Q V L R T L V p.320
. . . . . . g.252197
CAGGAGAAGGGCACGGAGGTGCTCGCCGTGCGCGTGGTCACACTGCTCTACGACCTGGTC c.1020
Q E K G T E V L A V R V V T L L Y D L V p.340
| 11 . . . . . g.255954
ACGGAGAAG | ATGTTCGCCGAGGAGGAGGCTGAGCTGACCCAGGAGATGTCCCCAGAGAAG c.1080
T E K | M F A E E E A E L T Q E M S P E K p.360
. . . . . . g.256014
CTGCAGCAGTATCGCCAGGTACACCTCCTGCCAGGCCTGTGGGAACAGGGCTGGTGCGAG c.1140
L Q Q Y R Q V H L L P G L W E Q G W C E p.380
. . . . . . g.256074
ATCACGGCCCACCTCCTGGCGCTGCCCGAGCATGATGCCCGTGAGAAGGTGCTGCAGACA c.1200
I T A H L L A L P E H D A R E K V L Q T p.400
. . . . . . g.256134
CTGGGCGTCCTCCTGACCACCTGCCGGGACCGCTACCGTCAGGACCCCCAGCTCGGCAGG c.1260
L G V L L T T C R D R Y R Q D P Q L G R p.420
. . . . . . g.256194
ACACTGGCCAGCCTGCAGGCTGAGTACCAGGTGCTGGCCAGCCTGGAGCTGCAGGATGGT c.1320
T L A S L Q A E Y Q V L A S L E L Q D G p.440
. . . . . . g.256254
GAGGACGAGGGCTACTTCCAGGAGCTGCTGGGCTCTGTCAACAGCTTGCTGAAGGAGCTG c.1380
E D E G Y F Q E L L G S V N S L L K E L p.460
g.256260
AGATGA c.1386
R X p.461
. . . . . . g.256320
ggccccacaccaggactggactgggatgccgctagtgaggctgaggggtgccagcgtggg c.*60
. . . . . . g.256380
tgggcttctcaggcaggaggacatcttggcagtgctggcttggccattaaatggaaacct c.*120
. . . . . . g.256440
gaaggccatcctctttctgctgtgtgtctgtgtagactgggcacagccctgtggccgggg c.*180
. . . . . . g.256500
ggtcaggtgagtggttgggtgatgggctctgctgacgtgcagggctcagcccagggcatc c.*240
. . . . . . g.256560
caggaacaggctccagggcaggaacctgggcccaggagttgcaagtctctgcttcttacc c.*300
. . . . . . g.256620
aagcagcagctctgtaccttgggaagtcgcttaattgctctgagcttgtttcctcatctg c.*360
. . . g.256657
tcaggagtgccattaaaggagaaaaatcacgtagaaa c.*397
(downstream sequence)
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