(used for variant description)
(last modified January 12, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_003174.3 in the SVIL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_033998.1, covering SVIL transcript NM_003174.3.
(upstream sequence)
. . . g.5030
tcggcgggaagcggcgatcctgccaccggg c.-421
. . . | 02 . . . g.54189
aggtgtggaagagccgggtag | attctggctacattggagattggttgctttctaaaactg c.-361
. . . . . . g.54249
aaggagaagcccatgaagagatggtggattctcactgagttttgactagcggaagaaaag c.-301
| 03 . . . . . g.82793
| agagagttcaagtggatggccttgaggacttgaaaagctgagatatgatgattttgaagt c.-241
. . . . | 04 . g.171509
catttcacatcgaagccatgatttaaatatcggcgttaag | atttcaacaagaaaaactta c.-181
. . . . | 05. . g.177531
agcttccttggattcccacgtcaaaggaaagtttcaag | ctttcagaaggagttctcactc c.-121
. . . . . . g.177591
gaagataaagaacagctcgctaaccacgaaagaggaatcgatgctcagcttttagttgca c.-61
. | 06 . . . . g.185743
cttcctaaag | ttgcagaattaagacaaatctttgaaccaaagaagaaagaattcttagaa c.-1
| 07 . . . . . g.185919
ATGAAAAG | AAAAGAAAGAATTGCCAGGCGCCTGGAAGGGATTGAAAATGACACTCAGCCC c.60
M K R | K E R I A R R L E G I E N D T Q P p.20
. . . . . . g.185979
ATCCTCTTGCAGAGCTGCACAGGATTGGTGACTCACCGCCTGCTGGAGGAAGACACCCCT c.120
I L L Q S C T G L V T H R L L E E D T P p.40
. . . . | 08 . . g.189558
CGATACATGAGAGCCAGCGACCCTGCCAGCCCCCACATCG | GCCGATCAAATGAAGAGGAG c.180
R Y M R A S D P A S P H I G | R S N E E E p.60
. . . . . . g.189618
GAAACTTCTGATTCTTCTCTAGAAAAGCAAACTCGATCCAAATACTGCACAGAAACCTCC c.240
E T S D S S L E K Q T R S K Y C T E T S p.80
. . . . . . g.189678
GGTGTCCACGGTGACTCACCCTATGGTTCGGGTACCATGGACACCCACAGTCTGGAGTCC c.300
G V H G D S P Y G S G T M D T H S L E S p.100
. . . . . . g.189738
AAAGCCGAAAGAATTGCAAGGTACAAAGCAGAAAGAAGGCGACAGCTGGCAGAGAAGTAT c.360
K A E R I A R Y K A E R R R Q L A E K Y p.120
. . . . . . g.189798
GGGCTGACTCTGGATCCCGAGGCCGACTCCGAGTATTTATCCCGCTATACCAAGTCCAGG c.420
G L T L D P E A D S E Y L S R Y T K S R p.140
. . . . . . g.189858
AAGGAGCCTGATGCTGTCGAGAAGCGGGGAGGAAAAAGTGACAAACAGGAAGAGTCAAGC c.480
K E P D A V E K R G G K S D K Q E E S S p.160
. . . . . . g.189918
AGAGATGCTAGTTCTCTGTACCCCGGGACCGAGACGATGGGGCTCAGGACCTGTGCCGGT c.540
R D A S S L Y P G T E T M G L R T C A G p.180
. . . . . . g.189978
GAATCCAAGGACTATGCCCTCCATGTGGGTGACGGCTCTTCCGACCCGGAGGTGCTGCTG c.600
E S K D Y A L H V G D G S S D P E V L L p.200
. . . . . . g.190038
AACATAGAAAACCAAAGACGAGGTCAAGAGCTGAGTGCCACCCGGCAGGCCCATGACCTG c.660
N I E N Q R R G Q E L S A T R Q A H D L p.220
. . . . . . g.190098
TCCCCAGCAGCCGAGAGTTCCTCGACCTTCTCTTTCTCTGGGCGAGACTCCTCCTTCACT c.720
S P A A E S S S T F S F S G R D S S F T p.240
. . . . . . g.190158
GAAGTGCCACGGTCCCCCAAGCACGCCCACAGCTCCTCCCTGCAGCAGGCAGCCTCCCGG c.780
E V P R S P K H A H S S S L Q Q A A S R p.260
. . . . | 09. . g.209526
AGCCCCTCCTTTGGTGACCCACAGCTATCCCCTGAGGCCCGACCCAG | GTGCACTTCACAT c.840
S P S F G D P Q L S P E A R P R | C T S H p.280
. . | 10 . . . . g.210171
TCAGAAACGCCAACTGTCGATG | ATGAAGAAAAGGTGGATGAACGAGCCAAGCTGAGCGTC c.900
S E T P T V D D | E E K V D E R A K L S V p.300
. . | 11 . . . . g.210993
GCCGCCAAGAGGTTGCTTTTCAGG | GAGATGGAAAAATCTTTTGATGAACAAAATGTTCCA c.960
A A K R L L F R | E M E K S F D E Q N V P p.320
. . . . . . g.211053
AAGCGACGCTCAAGAAACACAGCTGTGGAGCAGAGGCTACGCCGTCTGCAGGACAGGTCC c.1020
K R R S R N T A V E Q R L R R L Q D R S p.340
. . . . | 12 . . g.216102
CTCACCCAGCCCATCACCACTGAAGAGGTGGTCATCGCAGCCAC | ATTGCAGGCCTCTGCT c.1080
L T Q P I T T E E V V I A A T | L Q A S A p.360
. . . . . . g.216162
CACCAAAAGGCCTTAGCCAAGGACCAGACAAATGAGGGCAAAGAGCTTGCTGAGCAAGGA c.1140
H Q K A L A K D Q T N E G K E L A E Q G p.380
. . . . . . g.216222
GAACCTGATTCCTCCACTCTAAGCTTGGCCGAAAAGTTGGCCTTGTTTAACAAATTGTCC c.1200
E P D S S T L S L A E K L A L F N K L S p.400
. . . . . . g.216282
CAGCCAGTCTCAAAAGCGATTTCTACCCGGAACAGAATAGACACGAGACAGAGGAGAATG c.1260
Q P V S K A I S T R N R I D T R Q R R M p.420
. . . . | 13 . g.216786
AACGCTCGCTATCAAACTCAGCCAGTCACACTGGGAGAGGTGGAGCAG | GTGCAGAGTGGA c.1320
N A R Y Q T Q P V T L G E V E Q | V Q S G p.440
. . . . . . g.216846
AAGCTCATTCCTTTCTCACCTGCCGTGAACACATCAGTGTCTACCGTAGCATCCACGGTT c.1380
K L I P F S P A V N T S V S T V A S T V p.460
. . . . . . g.216906
GCTCCAATGTATGCCGGAGATCTTCGCACAAAGCCACCTCTTGACCACAATGCAAGTGCC c.1440
A P M Y A G D L R T K P P L D H N A S A p.480
. . . . . . g.216966
ACTGACTATAAGTTTTCTTCTTCAATAGAAAATTCGGACTCTCCAGTTAGAAGCATTCTG c.1500
T D Y K F S S S I E N S D S P V R S I L p.500
. . . . . . g.217026
AAATCGCAAGCTTGGCAGCCTTTGGTAGAGGGTAGCGAGAACAAGGGAATGTTGAGAGAA c.1560
K S Q A W Q P L V E G S E N K G M L R E p.520
. . . . . . g.217086
TATGGAGAGACAGAAAGCAAGAGAGCTTTGACAGGTCGAGACAGTGGGATGGAGAAGTAT c.1620
Y G E T E S K R A L T G R D S G M E K Y p.540
. . . . . . g.217146
GGGTCCTTTGAGGAAGCAGAAGCATCCTACCCCATCCTGAACCGAGCCAGGGAAGGAGAC c.1680
G S F E E A E A S Y P I L N R A R E G D p.560
. . . . . . g.217206
AGCCATAAGGAATCTAAATATGCTGTTCCCAGAAGAGGAAGCCTGGAACGGGCGAACCCT c.1740
S H K E S K Y A V P R R G S L E R A N P p.580
. . . . . . g.217266
CCCATCACCCACCTCGGGGATGAACCGAAGGAATTTTCCATGGCTAAAATGAATGCACAA c.1800
P I T H L G D E P K E F S M A K M N A Q p.600
. . . . . . g.217326
GGAAACTTGGACTTGAGGGACAGGCTGCCCTTTGAAGAGAAGGTGGAGGTGGAGAATGTT c.1860
G N L D L R D R L P F E E K V E V E N V p.620
. . | 14 . . . . g.218201
ATGAAAAGGAAGTTTTCACTAAGAG | CGGCAGAGTTCGGGGAGCCCACTTCCGAGCAGACG c.1920
M K R K F S L R A | A E F G E P T S E Q T p.640
. . . . . . g.218261
GGGACAGCTGCTGGGAAAACTATTGCTCAAACCACAGCCCCCGTGTCCTGGAAGCCCCAG c.1980
G T A A G K T I A Q T T A P V S W K P Q p.660
. . . . . . g.218321
GATTCTTCGGAACAGCCACAGGAGAAGCTCTGCAAGAATCCATGTGCGATGTTTGCTGCT c.2040
D S S E Q P Q E K L C K N P C A M F A A p.680
. . . . . . g.218381
GGAGAGATCAAAACGCCGACAGGGGAGGGCCTTCTTGACTCACCCAGCAAAACCATGTCT c.2100
G E I K T P T G E G L L D S P S K T M S p.700
. | 15 . . . . . g.227989
ATTAAAGAAAG | ATTGGCACTGTTGAAGAAAAGCGGGGAGGAAGATTGGAGAAACAGACTC c.2160
I K E R | L A L L K K S G E E D W R N R L p.720
. . . . . . g.228049
AGCAGGAGGCAGGAGGGCGGCAAGGCGCCGGCCAGCAGCCTGCACACCCAGGAAGCAGGG c.2220
S R R Q E G G K A P A S S L H T Q E A G p.740
. | 16 . . . . g.241580
CGGTCCCTCATCAAGAAG | CGGGTCACAGAAAGTCGAGAGAGCCAAATGACGATTGAGGAG c.2280
R S L I K K | R V T E S R E S Q M T I E E p.760
. . . . . . g.241640
AGGAAGCAGCTCATCACTGTGAGAGAGGAGGCCTGGAAGACGAGAGGCAGAGGAGCGGCC c.2340
R K Q L I T V R E E A W K T R G R G A A p.780
. . . . | 17 . . g.245634
AACGACTCGACCCAGTTCACTGTGGCTGGCAGGATGGTGAAGAAAG | GTTTGGCGTCACCT c.2400
N D S T Q F T V A G R M V K K G | L A S P p.800
. . . . . . g.245694
ACTGCCATAACCCCAGTAGCCTCACCCATTTGCGGTAAAACAAGAGGCACCACACCCGTT c.2460
T A I T P V A S P I C G K T R G T T P V p.820
. | 18 . . . . . g.245845
TCCAAACCCCTGGAAG | ATATCGAAGCCAGACCAGATATGCAGTTAGAATCGGACCTGAAG c.2520
S K P L E D | I E A R P D M Q L E S D L K p.840
. . . . | 19 . . g.247427
TTGGACAGGCTGGAAACCTTTCTAAGAAGGCTGAATAACAAAG | TTGGCGGGATGCACGAA c.2580
L D R L E T F L R R L N N K V | G G M H E p.860
. . . . . . g.247487
ACGGTGCTCACTGTCACCGGCAAATCTGTGAAGGAGGTGATGAAGCCAGATGATGATGAA c.2640
T V L T V T G K S V K E V M K P D D D E p.880
. . . . . . g.247547
ACCTTTGCCAAATTTTACCGCAGCGTGGATTATAATATGCCAAGAAGTCCTGTGGAGATG c.2700
T F A K F Y R S V D Y N M P R S P V E M p.900
. . . . | 20 . . g.249801
GATGAGGACTTCGATGTCATTTTCGATCCTTATGCACCCAA | ATTGACGTCTTCCGTGGCC c.2760
D E D F D V I F D P Y A P K | L T S S V A p.920
. . . . . . g.249861
GAGCACAAGCGGGCAGTTAGGCCCAAGCGCCGGGTTCAGGCCTCCAAAAACCCCCTGAAA c.2820
E H K R A V R P K R R V Q A S K N P L K p.940
. . . . . . g.249921
ATGCTGGCGGCAAGAGAAGATCTCCTTCAGGAATACACTGAGCAGAGATTAAACGTTGCC c.2880
M L A A R E D L L Q E Y T E Q R L N V A p.960
. . . | 21 . . . g.252071
TTCATGGAGTCAAAGCGGATGAAAGTAGAAAAGA | TGTCTTCCAACTCCAACTTCTCAGAA c.2940
F M E S K R M K V E K M | S S N S N F S E p.980
. . . . . . g.252131
GTCACCCTGGCGGGTTTAGCCAGTAAAGAAAACTTCAGCAACGTCAGCCTGCGGAGCGTC c.3000
V T L A G L A S K E N F S N V S L R S V p.1000
. . . . . . g.252191
AACCTGACGGAACAGAACTCTAACAACAGCGCCGTGCCCTACAAGAGGCTGATGCTGTTG c.3060
N L T E Q N S N N S A V P Y K R L M L L p.1020
. | 22 . . . . . g.253552
CAGATTAAAG | GAAGAAGACATGTGCAGACCAGGCTGGTGGAACCTCGAGCTTCGGCGCTC c.3120
Q I K G | R R H V Q T R L V E P R A S A L p.1040
. . . . . . g.253612
AACAGTGGGGACTGCTTCCTCCTGCTCTCTCCCCACTGCTGCTTCCTGTGGGTAGGAGAG c.3180
N S G D C F L L L S P H C C F L W V G E p.1060
. . | 23. . . . g.254277
TTTGCAAACGTCATAGAAAAGGCGAAG | GCCTCAGAACTTGCAACTTTAATTCAGACAAAG c.3240
F A N V I E K A K | A S E L A T L I Q T K p.1080
. . . . . . g.254337
AGGGAACTTGGTTGTAGAGCTACTTATATCCAAACCATTGAAGAAGGAATTAATACACAC c.3300
R E L G C R A T Y I Q T I E E G I N T H p.1100
. . . . . | 24 . g.254576
ACTCATGCAGCCAAAGACTTCTGGAAGCTTCTGGGTGGCCAAACCAGTTACCAAT | CTGCT c.3360
T H A A K D F W K L L G G Q T S Y Q S | A p.1120
. . . . . . g.254636
GGAGACCCAAAAGAAGATGAACTCTATGAAGCAGCCATAATAGAAACTAACTGCATTTAC c.3420
G D P K E D E L Y E A A I I E T N C I Y p.1140
. . . . . . g.254696
CGTCTCATGGATGACAAACTTGTTCCTGATGACGACTACTGGGGGAAAATTCCGAAGTGC c.3480
R L M D D K L V P D D D Y W G K I P K C p.1160
. . | 25 . . . . g.256009
TCCCTTCTGCAACCCAAAGAG | GTACTGGTGTTTGATTTTGGTAGTGAAGTTTACGTATGG c.3540
S L L Q P K E | V L V F D F G S E V Y V W p.1180
. . . . . . g.256069
CATGGGAAAGAAGTCACATTAGCACAACGAAAAATAGCATTTCAGCTGGCAAAGCACTTA c.3600
H G K E V T L A Q R K I A F Q L A K H L p.1200
. . . . . . g.256129
TGGAATGGAACCTTTGACTATGAGAACTGTGACATCAATCCCCTGGATCCTGGAGAATGC c.3660
W N G T F D Y E N C D I N P L D P G E C p.1220
. | 26. . . . . g.259116
AATCCGCTTATCCCCAG | AAAAGGACAGGGGCGGCCCGACTGGGCGATATTTGGGAGACTT c.3720
N P L I P R | K G Q G R P D W A I F G R L p.1240
. . . . . . g.259176
ACTGAACACAATGAGACGATTTTGTTCAAAGAGAAGTTTCTGGATTGGACGGAACTGAAG c.3780
T E H N E T I L F K E K F L D W T E L K p.1260
. . . . | 27 . . g.260006
AGATCGAATGAGAAGAACCCCGGGGAACTTGCCCAGCACAAG | GAAGACCCCAGGACTGAT c.3840
R S N E K N P G E L A Q H K | E D P R T D p.1280
. . . . . . g.260066
GTCAAGGCATACGATGTGACACGGATGGTGTCCATGCCCCAGACGACAGCAGGCACCATC c.3900
V K A Y D V T R M V S M P Q T T A G T I p.1300
. . . . . . g.260126
CTGGACGGAGTGAACGTCGGCCGTGGCTATGGCCTGGTGGAAGGACACGACAGGAGGCAG c.3960
L D G V N V G R G Y G L V E G H D R R Q p.1320
. . . . . . g.260186
TTTGAGATCACCAGCGTTTCCGTGGATGTCTGGCACATCCTGGAATTCGACTATAGCAGG c.4020
F E I T S V S V D V W H I L E F D Y S R p.1340
. . . . . . g.260246
CTCCCCAAACAAAGCATCGGGCAGTTCCATGAGGGGGATGCCTATGTGGTCAAGTGGAAG c.4080
L P K Q S I G Q F H E G D A Y V V K W K p.1360
. | 28 . . . . g.266853
TTCATGGTGAGCACGGCAG | TGGGAAGTCGCCAGAAGGGAGAGCACTCGGTGAGGGCAGCC c.4140
F M V S T A V | G S R Q K G E H S V R A A p.1380
. . . . . . g.266913
GGCAAAGAGAAGTGCGTCTACTTCTTCTGGCAAGGCCGGCACTCCACCGTGAGTGAGAAG c.4200
G K E K C V Y F F W Q G R H S T V S E K p.1400
. . . . . | 29 . g.269567
GGCACGTCGGCGCTGATGACGGTGGAGCTGGACGAGGAAAGGGGGGCCCAG | GTCCAGGTT c.4260
G T S A L M T V E L D E E R G A Q | V Q V p.1420
. . . . . . g.269627
CTCCAGGGAAAGGAGCCCCCCTGTTTCCTGCAGTGTTTCCAGGGGGGGATGGTGGTGCAC c.4320
L Q G K E P P C F L Q C F Q G G M V V H p.1440
. . . | 30. . . g.270341
TCGGGGAGGCGGGAAGAGGAAGAAGAAAATGTGCAAA | GTGAGTGGCGGCTGTACTGCGTG c.4380
S G R R E E E E E N V Q S | E W R L Y C V p.1460
. . . . . . g.270401
CGTGGAGAGGTGCCCGTGGAAGGGAATTTGCTGGAAGTGGCCTGTCACTGTAGCAGCCTG c.4440
R G E V P V E G N L L E V A C H C S S L p.1480
. . . . . . g.270461
AGGTCCAGAACTTCCATGGTGGTGCTTAACGTCAACAAGGCCCTCATCTACCTGTGGCAC c.4500
R S R T S M V V L N V N K A L I Y L W H p.1500
. . . . . . g.270521
GGATGCAAAGCCCAGGCCCACACGAAGGAGGTCGGAAGGACCGCTGCGAACAAGATCAAG c.4560
G C K A Q A H T K E V G R T A A N K I K p.1520
| 31 . . . . . . g.272981
GAACA | ATGTCCCCTGGAAGCAGGACTGCATAGTAGCAGCAAAGTCACAATACACGAGTGT c.4620
E Q | C P L E A G L H S S S K V T I H E C p.1540
. . . . . . g.273041
GATGAAGGCTCCGAGCCACTCGGATTCTGGGATGCCTTAGGAAGGAGAGACAGGAAAGCC c.4680
D E G S E P L G F W D A L G R R D R K A p.1560
. | 32 . . . . g.275092
TACGATTGCATGCTTCAAG | ATCCTGGAAGTTTTAACTTCGCGCCCCGCCTGTTCATCCTC c.4740
Y D C M L Q D | P G S F N F A P R L F I L p.1580
. . . . . . g.275152
AGCAGCTCCTCTGGGGATTTTGCAGCCACAGAGTTTGTGTACCCTGCCCGAGCCCCCTCT c.4800
S S S S G D F A A T E F V Y P A R A P S p.1600
. . . . . | 33 . g.277171
GTGGTCAGTTCCATGCCCTTCCTGCAGGAAGATCTGTACAGCGCGCCCCAGCCAG | CACTT c.4860
V V S S M P F L Q E D L Y S A P Q P A | L p.1620
. . . . . . g.277231
TTCCTTGTTGACAATCACCACGAGGTGTACCTCTGGCAAGGCTGGTGGCCCATCGAGAAC c.4920
F L V D N H H E V Y L W Q G W W P I E N p.1640
. . . . . . g.277291
AAGATCACTGGTTCCGCCCGCATCCGCTGGGCCTCCGACCGGAAGAGTGCGATGGAGACT c.4980
K I T G S A R I R W A S D R K S A M E T p.1660
. | 34 . . . . g.278441
GTGCTCCAGTACTGCAAAG | GAAAAAATCTCAAGAAACCAGCCCCCAAGTCTTACCTTATC c.5040
V L Q Y C K G | K N L K K P A P K S Y L I p.1680
. . . . . . g.278501
CACGCTGGTCTGGAGCCCCTGACATTCACCAATATGTTTCCCAGCTGGGAGCACAGAGAG c.5100
H A G L E P L T F T N M F P S W E H R E p.1700
. . | 35 . . . . g.282248
GACATCGCTGAGATCACAGAGATG | GACACGGAAGTTTCCAATCAGATCACCCTCGTGGAA c.5160
D I A E I T E M | D T E V S N Q I T L V E p.1720
. . . . . . g.282308
GACGTCTTAGCCAAGCTCTGTAAAACCATTTACCCGCTGGCCGACCTCCTGGCCAGGCCA c.5220
D V L A K L C K T I Y P L A D L L A R P p.1740
. . . . . . g.282368
CTCCCGGAGGGGGTCGATCCTCTGAAGCTTGAGATCTATCTCACCGACGAAGACTTCGAG c.5280
L P E G V D P L K L E I Y L T D E D F E p.1760
| 36 . . . . . . g.282528
| TTTGCACTAGACATGACGAGGGATGAATACAACGCCCTGCCCGCCTGGAAGCAGGTGAAC c.5340
| F A L D M T R D E Y N A L P A W K Q V N p.1780
. . g.282555
CTGAAGAAAGCAAAAGGCCTGTTCTGA c.5367
L K K A K G L F X p.1788
. . . . . . g.282615
gtggggagacgccagaggagcctcacggtcacgtccaacaacaccactgcaccagggaaa c.*60
. . . . . . g.282675
tggatatatatttttggactggtgtttttcacaaagtatttttcaatcagagttttcaga c.*120
. . . . . . g.282735
acctgacattgttaaagatactgcttgtcccggagttgtgtattttgtaaatgttcaagg c.*180
. . . . . . g.282795
gaactgtttggaaacttctttccaccattcaggaggttatcagaattaataaaagtatct c.*240
. . . . . . g.282855
gttatgtgcacttaagccgcagctgctatagatagcactgccttcttgttccagctaggc c.*300
. . . . . . g.282915
aatgccttttttttttttttttgaagcagttctctttataaagtgttattttgatagttt c.*360
. . . . . . g.282975
gtggattctaaaatatatatatatttatataaacaccatataagtcaaatatgtatttaa c.*420
. . . . . . g.283035
caaagcaatatgtattcattcactttcaagatttgttttggtgtcaaaataacatgaaaa c.*480
. . . . . . g.283095
ggtagatggagttgcttctgttgaattagctctgccaccaatatgtatcttcatacacgt c.*540
. . . . . . g.283155
ttggaaatgtttcctgcagcattaggtatgacttgttctgagtactgcttccggtgctaa c.*600
. . . . . . g.283215
aatgaacaaagaatttgtacttaatggcatggactctggagaatctatgcgaatcaacct c.*660
. . . . . . g.283275
ttctaccttaatatctccccaaaaatgtatagtgccttgtttttatgtacagtttatata c.*720
. . . . . . g.283335
cagaaaagtttgctctgcatttttgatgatggtttggaacattatctacaattttactct c.*780
. . . . . . g.283395
caaatagtcaaaataaaaacatctcaatttctaataccggttgtaaacagtacacatgtc c.*840
. . . . . g.283454
attttgtgatataggactcccaaataaaagtatcagaataaacacaacaattaactggt c.*899
(downstream sequence)
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