(used for variant description)
(last modified June 21, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_032108.3 in the SEMA6B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering SEMA6B transcript NM_032108.3.
(upstream sequence)
. . g.5022
gaggtcttcctgtttttggagg c.-241
. . . . . . g.5082
gggcaggcaccccagggccgattgtcgcgaatcaccttcacctctgggggctcagaatcc c.-181
. . . . . . g.5142
ctgagccagaaggccagggcagggctgggggatacccctgctgctcagacaggaaaatgg c.-121
. . . . . . g.5202
gctcggagcttgcccaatacttcccagaaggacgaggctgctgaacttctcattcggggc c.-61
. . . | 02. . . g.6302
tccgggacctggactgtacccctttctg | gcgtcacctcctcctgtcgcctggccctcgcc c.-1
. . . . . . g.6362
ATGCAGACCCCGCGAGCGTCCCCTCCCCGCCCGGCCCTGCTGCTTCTGCTGCTGCTACTG c.60
M Q T P R A S P P R P A L L L L L L L L p.20
. . . . . . g.6422
GGGGGCGCCCACGGCCTCTTTCCTGAGGAGCCGCCGCCGCTTAGCGTGGCCCCCAGGGAC c.120
G G A H G L F P E E P P P L S V A P R D p.40
| 03 . . . . . . g.6669
T | ACCTGAACCACTATCCCGTGTTTGTGGGCAGCGGGCCCGGACGCCTGACCCCCGCAGAA c.180
Y | L N H Y P V F V G S G P G R L T P A E p.60
. . . . . . g.6729
GGTGCTGACGACCTCAACATCCAGCGAGTCCTGCGGGTCAACAGGACGCTGTTCATTGGG c.240
G A D D L N I Q R V L R V N R T L F I G p.80
| 04 . . . . . . g.7591
GACAG | GGACAACCTCTACCGCGTAGAGCTGGAGCCCCCCACGTCCACGGAGCTGCGGTAC c.300
D R | D N L Y R V E L E P P T S T E L R Y p.100
| 05 . . . . . . g.7800
CAGAGG | AAGCTGACCTGGAGATCTAACCCCAGCGACATAAACGTGTGTCGGATGAAGGGC c.360
Q R | K L T W R S N P S D I N V C R M K G p.120
| 06 . . . . . g.8721
AAACAGGAG | GGCGAGTGTCGAAACTTCGTAAAGGTGCTGCTCCTTCGGGACGAGTCCACG c.420
K Q E | G E C R N F V K V L L L R D E S T p.140
. . . . . | 07 . g.9204
CTCTTTGTGTGCGGTTCCAACGCCTTCAACCCGGTGTGCGCCAACTACAGC | ATAGACACC c.480
L F V C G S N A F N P V C A N Y S | I D T p.160
. . . . . . g.9264
CTGCAGCCCGTCGGAGACAACATCAGCGGTATGGCCCGCTGCCCGTACGACCCCAAGCAC c.540
L Q P V G D N I S G M A R C P Y D P K H p.180
. . | 08 . . . . g.9702
GCCAATGTTGCCCTCTTCTCTG | ACGGGATGCTCTTCACAGCTACTGTTACCGACTTCCTA c.600
A N V A L F S D | G M L F T A T V T D F L p.200
. . . . . . g.9762
GCCATTGATGCTGTCATCTACCGCAGCCTCGGGGACAGGCCCACCCTGCGCACCGTGAAA c.660
A I D A V I Y R S L G D R P T L R T V K p.220
. . | 09 . . . . g.10321
CATGACTCCAAGTGGTTCAAAG | AGCCTTACTTTGTCCATGCGGTGGAGTGGGGCAGCCAT c.720
H D S K W F K E | P Y F V H A V E W G S H p.240
. . . . . | 10 . g.12129
GTCTACTTCTTCTTCCGGGAGATTGCGATGGAGTTTAACTACCTGGAGAAG | GTGGTGGTG c.780
V Y F F F R E I A M E F N Y L E K | V V V p.260
. . . . . . g.12189
TCCCGCGTGGCCCGAGTGTGCAAGAACGACGTGGGAGGCTCCCCCCGCGTGCTGGAGAAG c.840
S R V A R V C K N D V G G S P R V L E K p.280
. . . . . . g.12249
CAGTGGACGTCCTTCCTGAAGGCGCGGCTCAACTGCTCTGTACCCGGAGACTCCCATTTC c.900
Q W T S F L K A R L N C S V P G D S H F p.300
. . . . . . g.12309
TACTTCAACGTGCTGCAGGCTGTCACGGGCGTGGTCAGCCTCGGGGGCCGGCCCGTGGTC c.960
Y F N V L Q A V T G V V S L G G R P V V p.320
. . | 11 . . . g.13860
CTGGCCGTTTTTTCCACGCCCAGCAACAG | CATCCCTGGCTCGGCTGTCTGCGCCTTTGAC c.1020
L A V F S T P S N S | I P G S A V C A F D p.340
. . . . . . g.13920
CTGACACAGGTGGCAGCTGTGTTTGAAGGCCGCTTCCGAGAGCAGAAGTCCCCCGAGTCC c.1080
L T Q V A A V F E G R F R E Q K S P E S p.360
. . . . | 12 . . g.14506
ATCTGGACGCCGGTGCCGGAGGATCAGGTGCCTCGACCCCG | GCCCGGGTGCTGCGCAGCC c.1140
I W T P V P E D Q V P R P R | P G C C A A p.380
. . . . . . g.14566
CCCGGGATGCAGTACAATGCCTCCAGCGCCTTGCCGGATGACATCCTCAACTTTGTCAAG c.1200
P G M Q Y N A S S A L P D D I L N F V K p.400
. . . . . . g.14626
ACCCACCCTCTGATGGACGAGGCGGTGCCCTCGCTGGGCCATGCGCCCTGGATCCTGCGG c.1260
T H P L M D E A V P S L G H A P W I L R p.420
. | 13 . . . . . g.16363
ACCCTGATGAG | GCACCAGCTGACTCGAGTGGCTGTGGACGTGGGAGCCGGCCCCTGGGGC c.1320
T L M R | H Q L T R V A V D V G A G P W G p.440
. . . . . . g.16423
AACCAGACCGTTGTCTTCCTGGGTTCTGAGGCGGGGACGGTCCTCAAGTTCCTCGTCCGG c.1380
N Q T V V F L G S E A G T V L K F L V R p.460
. . . . . . g.16483
CCCAATGCCAGCACCTCAGGGACGTCTGGGCTCAGTGTCTTCCTGGAGGAGTTTGAGACC c.1440
P N A S T S G T S G L S V F L E E F E T p.480
. | 14 . . . . . g.16632
TACCGGCCGGACAG | GTGTGGACGGCCCGGCGGTGGCGAGACAGGGCAGCGGCTGCTGAGC c.1500
Y R P D R | C G R P G G G E T G Q R L L S p.500
. . . . . . g.16692
TTGGAGCTGGACGCAGCTTCGGGGGGCCTGCTGGCTGCCTTCCCCCGCTGCGTGGTCCGA c.1560
L E L D A A S G G L L A A F P R C V V R p.520
. . . . | 15 . . g.18309
GTGCCTGTGGCTCGCTGCCAGCAGTACTCGGGGTGTATGAA | GAACTGTATCGGCAGTCAG c.1620
V P V A R C Q Q Y S G C M K | N C I G S Q p.540
. . . . . | 16 g.18486
GACCCCTACTGCGGGTGGGCCCCCGACGGCTCCTGCATCTTCCTCAGCCCGGGCACCAG | A c.1680
D P Y C G W A P D G S C I F L S P G T R | p.560
. . . . . | 17 g.20232
GCCGCCTTTGAGCAGGACGTGTCCGGGGCCAGCACCTCAGGCTTAGGGGACTGCACAG | GA c.1740
A A F E Q D V S G A S T S G L G D C T G | p.580
. . . . . . g.20292
CTCCTGCGGGCCAGCCTCTCCGAGGACCGCGCGGGGCTGGTGTCGGTGAACCTGCTGGTA c.1800
L L R A S L S E D R A G L V S V N L L V p.600
. . . . . . g.20352
ACGTCGTCGGTGGCGGCCTTCGTGGTGGGAGCCGTGGTGTCCGGCTTCAGCGTGGGCTGG c.1860
T S S V A A F V V G A V V S G F S V G W p.620
. . . . . . g.20412
TTCGTGGGCCTCCGTGAGCGGCGGGAGCTGGCCCGGCGCAAGGACAAGGAGGCCATCCTG c.1920
F V G L R E R R E L A R R K D K E A I L p.640
. . . . . . g.20472
GCGCACGGGGCGGGCGAGGCGGTGCTGAGCGTCAGCCGCCTGGGCGAGCGCAGGGCGCAG c.1980
A H G A G E A V L S V S R L G E R R A Q p.660
. . . . . . g.20532
GGTCCCGGGGGCCGGGGCGGAGGCGGTGGCGGTGGCGCCGGGGTTCCCCCGGAGGCCCTG c.2040
G P G G R G G G G G G G A G V P P E A L p.680
. . . . . . g.20592
CTGGCGCCCCTGATGCAGAACGGCTGGGCCAAGGCCACGCTGCTGCAGGGCGGGCCCCAC c.2100
L A P L M Q N G W A K A T L L Q G G P H p.700
. . . . . . g.20652
GACCTGGACTCGGGGCTGCTGCCCACGCCCGAGCAGACGCCGCTGCCGCAGAAGCGCCTG c.2160
D L D S G L L P T P E Q T P L P Q K R L p.720
. . . . . . g.20712
CCCACTCCGCACCCGCACCCCCACGCCCTGGGCCCCCGCGCCTGGGACCACGGCCACCCC c.2220
P T P H P H P H A L G P R A W D H G H P p.740
. . . . . . g.20772
CTGCTCCCGGCCTCCGCTTCATCCTCCCTCCTGCTGCTGGCGCCCGCCCGGGCCCCCGAG c.2280
L L P A S A S S S L L L L A P A R A P E p.760
. . . . . . g.20832
CAGCCCCCCGCGCCTGGGGAGCCGACCCCCGACGGCCGCCTCTATGCTGCCCGGCCCGGC c.2340
Q P P A P G E P T P D G R L Y A A R P G p.780
. . . . . . g.20892
CGCGCCTCCCACGGCGACTTCCCGCTCACCCCCCACGCCAGCCCGGACCGCCGGCGGGTG c.2400
R A S H G D F P L T P H A S P D R R R V p.800
. . . . . . g.20952
GTGTCCGCGCCCACGGGCCCCTTGGACCCAGCCTCAGCCGCCGATGGCCTCCCGCGGCCC c.2460
V S A P T G P L D P A S A A D G L P R P p.820
. . . . . . g.21012
TGGAGCCCGCCCCCGACGGGCAGCCTGAGGAGGCCACTGGGCCCCCACGCCCCTCCGGCC c.2520
W S P P P T G S L R R P L G P H A P P A p.840
. . . . . . g.21072
GCCACCCTGCGCCGCACCCACACGTTCAACAGCGGCGAGGCCCGGCCTGGGGACCGCCAC c.2580
A T L R R T H T F N S G E A R P G D R H p.860
. . . . . . g.21132
CGCGGCTGCCACGCCCGGCCGGGCACAGACTTGGCCCACCTCCTCCCCTATGGGGGGGCG c.2640
R G C H A R P G T D L A H L L P Y G G A p.880
. . g.21159
GACAGGACTGCGCCCCCCGTGCCCTAG c.2667
D R T A P P V P X p.888
. . . . . . g.21219
gccgggggccccccgatgccttggcagtgccagccacgggaaccaggagcgagagacggt c.*60
. . . . . . g.21279
gccagaacgccggggcccggggcaactccgagtgggtgctcaagtcccccccgcgaccca c.*120
. . . . . . g.21339
cccgcggagtggggggccccctccgccacaaggaagcacaaccagctcgccctcccccta c.*180
. . . . . . g.21399
cccggggccgcaggacgctgagacggtttgggggtgggtgggcgggaggactttgctatg c.*240
. . . . . . g.21459
gatttgaggttgaccttatgcgcgtaggttttggttttttttgcagttttggtttctttt c.*300
. . . . . . g.21519
gcggttttctaaccaattgcacaactccgttctcggggtggcggcaggcaggggaggctt c.*360
. . . . . . g.21579
ggacgccggtggggaatggggggccacagctgcagacctaagccctcccccacccctgga c.*420
. . . . . . g.21639
aaggtccctccccaacccaggcccctggcgtgtgtgggtgtgcgtgcgtgtgcgtgccgt c.*480
. . . . . . g.21699
gttcgtgtgcaaggggccggggaggtgggcgtgtgtgtgcgtgccagcgaaggctgctgt c.*540
. . . . . . g.21759
gggcgtgtgtgtcaagtgggccacgcgtgcagggtgtgtgtccacgagcgacgatcgtgg c.*600
. . . . . . g.21819
tggccccagcggcctgggcgttggctgagccgacgctggggcttccagaaggcccggggg c.*660
. . . . . . g.21879
tctccgaggtgccggttaggagtttgaaccccccccactctgcagagggaagcggggaca c.*720
. . . . . . g.21939
atgccggggtttcaggcaggagacacgaggagggcctgcccggaagtcacatcggcagca c.*780
. . . . . . g.21999
gctgtctaaagggcttgggggcctggggggcggcgaaggtgggtggggcccctctgtaaa c.*840
. . . . . . g.22059
tacggccccagggtggtgagagagtcccatgccacccgtccccttgtgacctcccccctc c.*900
. . . . . . g.22119
tgacctccagctgaccatgcatgccacgtggctggctgggtcctctgccctctctggagt c.*960
. . . . . g.22172
ttgcctcccccagccccctccccatcaataaaactctgtttacaaccaccggc c.*1013
(downstream sequence)
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