(used for variant description)
(last modified November 28, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001048166.1 in the STIL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012126.1, covering STIL transcript NM_001048166.1.
(upstream sequence)
. . . g.5035
agttcccgcgaccccaacgtcccagaggcggggcc c.-121
. . . . . . g.5095
ggagtcggcggtggcgctccttggagccggctcccgctcctaccctgcaaacagacctca c.-61
. . | 02 . . . . g.8828
gctccgcggaagttgcg | gatactgaggatttggaattaaagaaatcattcaccagacatc c.-1
. . . . | 03 . . g.14167
ATGGAGCCTATATATCCTTTTGCACGGCCCCAGATGAATACCAG | GTTTCCTTCAAGCAGG c.60
M E P I Y P F A R P Q M N T R | F P S S R p.20
. . . . . . g.14227
ATGGTACCTTTCCACTTTCCTCCATCAAAATGTGCACTTTGGAACCCAACGCCAACTGGA c.120
M V P F H F P P S K C A L W N P T P T G p.40
. . . | 04 . . . g.16829
GATTTCATCTACTTACATCTCAGTTACTACAG | AAATCCAAAGCTTGTGGTGACTGAGAAG c.180
D F I Y L H L S Y Y R | N P K L V V T E K p.60
. . . . . . g.16889
ACCATCCGACTTGCTTATCGTCATGCTAAGCAGAATAAAAAAAATTCGTCATGCTTTTTA c.240
T I R L A Y R H A K Q N K K N S S C F L p.80
. . | 05 . . . . g.17434
CTTGGTTCTCTGACAGCAGACGAAG | ATGAAGAAGGTGTAACATTGACAGTAGATCGCTTT c.300
L G S L T A D E D | E E G V T L T V D R F p.100
. . . . . . g.17494
GATCCTGGTCGAGAAGTACCTGAATGCCTAGAAATAACCCCTACTGCTTCTCTTCCTGGG c.360
D P G R E V P E C L E I T P T A S L P G p.120
. . . . . . g.17554
GACTTTTTGATTCCATGCAAAGTTCATACTCAAGAACTTTGTTCAAGAGAAATGATAGTT c.420
D F L I P C K V H T Q E L C S R E M I V p.140
. . . | 06 . . . g.19022
CACAGTGTAGATGACTTCAGTTCAGCTTTAAAG | GCTCTACAGTGCCATATATGTAGCAAA c.480
H S V D D F S S A L K | A L Q C H I C S K p.160
. . . . . . g.19082
GATTCCTTGGACTGTGGTAAGCTGCTTTCCCTAAGAGTTCATATCACTTCCAGGGAGAGT c.540
D S L D C G K L L S L R V H I T S R E S p.180
. . . . . . g.19142
TTGGACAGTGTGGAATTTGACTTGCATTGGGCAGCAGTAACTCTAGCAAATAACTTTAAA c.600
L D S V E F D L H W A A V T L A N N F K p.200
. . . . . . g.19202
TGCACACCTGTGAAGCCCATCCCCATTATTCCAACAGCTCTGGCAAGAAACTTGAGCAGT c.660
C T P V K P I P I I P T A L A R N L S S p.220
. . . . | 07 . . g.23318
AATCTGAATATTTCTCAAGTTCAAGGGACTTATAAATATGG | ATATCTTACCATGGATGAA c.720
N L N I S Q V Q G T Y K Y G | Y L T M D E p.240
. . . . . . g.23378
ACACGCAAATTGTTACTTTTGTTGGAATCTGATCCCAAGGTTTATTCTCTACCATTGGTG c.780
T R K L L L L L E S D P K V Y S L P L V p.260
| 08 . . . . . . g.25658
GGAAT | TTGGCTGTCTGGAATTACACATATCTATAGTCCTCAGGTATGGGCTTGCTGTTTG c.840
G I | W L S G I T H I Y S P Q V W A C C L p.280
. . . | 09 . . . g.29590
CGATACATATTCAATTCTTCTGTTCAAGAAAG | GGTTTTTTCAGAATCTGGAAATTTCATC c.900
R Y I F N S S V Q E R | V F S E S G N F I p.300
. . . . . . g.29650
ATAGTTCTCTATTCTATGACACATAAGGAACCTGAGTTTTATGAATGCTTCCCTTGTGAT c.960
I V L Y S M T H K E P E F Y E C F P C D p.320
. . . . . . g.29710
GGCAAGATACCTGACTTTCGGTTTCAGTTGCTAACCAGTAAGGAAACATTACATCTTTTC c.1020
G K I P D F R F Q L L T S K E T L H L F p.340
| 10 . . . . . . g.31544
AAA | AATGTTGAACCTCCTGACAAAAATCCAATCCGTTGTGAACTGAGCGCTGAAAGCCAA c.1080
K | N V E P P D K N P I R C E L S A E S Q p.360
. . . . . | 11 . g.36695
AATGCAGAAACAGAGTTTTTCAGTAAGGCTTCCAAGAATTTTTCAATTAAGAG | GTCTTCC c.1140
N A E T E F F S K A S K N F S I K R | S S p.380
. . . . . . g.36755
CAAAAGTTATCTTCTGGGAAGATGCCAATACATGATCACGACTCTGGTGTTGAAGATGAA c.1200
Q K L S S G K M P I H D H D S G V E D E p.400
. . . . | 12 . g.37950
GATTTTTCTCCAAGACCAATTCCTAGTCCTCATCCAGTGAGTCAGAAG | ATTTCTAAGATC c.1260
D F S P R P I P S P H P V S Q K | I S K I p.420
. . . . . . g.38010
CAACCATCAGTTCCTGAACTTTCACTTGTGTTGGATGGCAATTTCATAGAATCAAACCCT c.1320
Q P S V P E L S L V L D G N F I E S N P p.440
. . . . . . g.38070
CTGCCTACTCCATTGGAAATGGTGAATAATGAAAATCCTCCTTTGATTAACCACTTGGAA c.1380
L P T P L E M V N N E N P P L I N H L E p.460
. . . . . . g.38130
CACTTGAAGCCATTGCAACCCCAGCTTTATGATGAGAAACACAGTCCAGAAGTTGAAGCT c.1440
H L K P L Q P Q L Y D E K H S P E V E A p.480
. . . . . . g.38190
GGAGAGCCTTCCTTGAGAGGAATACCAAATCAGTTAAACCAGGATAAACCAGCTCTTTTG c.1500
G E P S L R G I P N Q L N Q D K P A L L p.500
. . . . . . g.38250
AGACACTGCAAAGTAAGACAGCCACCTGCCTATAAGAAAGGGAACCCCCATACCAGGAAC c.1560
R H C K V R Q P P A Y K K G N P H T R N p.520
. . . . . . g.38310
AGTATTAAACCATCTTCTCATAATGGGCCATCTCATGATATATTTGAAAAGCTCCAAACA c.1620
S I K P S S H N G P S H D I F E K L Q T p.540
. . . . . . g.38370
GTTTCTGCTGGAAATGTACAAAACGAAGAGTATCCTATAAGACCCTCCACACTTAATTCT c.1680
V S A G N V Q N E E Y P I R P S T L N S p.560
. . . . . . g.38430
AGGCAGTCTTCTCTTGCCCCGCAGTCCCAACCACACGATTTTGTTTTTTCACCCCATAAT c.1740
R Q S S L A P Q S Q P H D F V F S P H N p.580
. . . . . . g.38490
TCAGGAAGACCAATGGAACTTCAGATACCTACTCCCCCACTGCCATCTTACTGTTCCACA c.1800
S G R P M E L Q I P T P P L P S Y C S T p.600
. . . . . . g.38550
AACGTTTGCAGGTGTTGTCAGCATCATAGTCATATTCAATATAGTCCGCTAAATTCTTGG c.1860
N V C R C C Q H H S H I Q Y S P L N S W p.620
. . . . . . g.38610
CAAGGAGCAAACACAGTTGGATCCATTCAAGATGTCCAGTCTGAAGCCCTTCAAAAGCAT c.1920
Q G A N T V G S I Q D V Q S E A L Q K H p.640
. . . . . . g.38670
TCATTATTTCACCCAAGTGGATGTCCAGCCCTGTACTGTAATGCATTCTGTTCTTCAAGT c.1980
S L F H P S G C P A L Y C N A F C S S S p.660
. . . . . . g.38730
AGTCCTATAGCCTTGAGACCTCAGGGAGATATGGGCAGTTGTTCTCCCCACAGCAATATT c.2040
S P I A L R P Q G D M G S C S P H S N I p.680
. . . . . . g.38790
GAACCATCGCCTGTGGCAAGACCGCCTTCACATATGGACTTATGTAACCCACAGCCTTGC c.2100
E P S P V A R P P S H M D L C N P Q P C p.700
. . . . . . g.38850
ACAGTGTGCATGCACACACCCAAGACTGAGTCAGATAATGGAATGATGGGACTATCTCCA c.2160
T V C M H T P K T E S D N G M M G L S P p.720
. . . . . | 13. g.46909
GATGCATATCGGTTCCTCACAGAACAAGACAGACAGCTAAGACTACTTCAGGCACAG | ATT c.2220
D A Y R F L T E Q D R Q L R L L Q A Q | I p.740
. . . . . . g.46969
CAGCGTTTGTTGGAAGCACAGTCTCTGATGCCCTGTTCCCCTAAGACAACTGCTGTTGAA c.2280
Q R L L E A Q S L M P C S P K T T A V E p.760
. . . . . . g.47029
GACACAGTGCAAGCTGGAAGACAAATGGAGTTGGTTTCTGTGGAAGCACAGTCTTCCCCT c.2340
D T V Q A G R Q M E L V S V E A Q S S P p.780
. . . . | 14 . . g.49298
GGCTTGCACATGAGAAAAGGTGTAAGCATTGCTGTGAGCACAG | GTGCTAGCTTGTTTTGG c.2400
G L H M R K G V S I A V S T G | A S L F W p.800
. . . . . . g.49358
AATGCAGCAGGTGAGGATCAAGAGCCTGACTCTCAAATGAAGCAAGATGATACCAAAATT c.2460
N A A G E D Q E P D S Q M K Q D D T K I p.820
. . . . . . g.49418
TCCAGTGAGGACATGAATTTTTCTGTCGATATTAATAATGAAGTCACAAGTCTTCCAGGT c.2520
S S E D M N F S V D I N N E V T S L P G p.840
. . . . . . g.49478
AGTGCATCTTCATTAAAAGCAGTTGATATTCCCAGTTTTGAAGAGAGCAACATTGCTGTG c.2580
S A S S L K A V D I P S F E E S N I A V p.860
. . . | 15 . . . g.56056
GAAGAAGAATTTAACCAGCCACTTTCTGTATCCAA | CAGCTCTTCTCTAGTTGTGAGAAAA c.2640
E E E F N Q P L S V S N | S S S L V V R K p.880
. . . . . . g.56116
GAACCTGATGTACCTGTGTTCTTTCCAAGTGGCCAGCTGGCAGAAAGTGTAAGCATGTGT c.2700
E P D V P V F F P S G Q L A E S V S M C p.900
. . . . . . g.56176
TTACAGACTGGACCAACAGGGGGTGCCAGTAACAATTCTGAAACATCAGAGGAACCAAAA c.2760
L Q T G P T G G A S N N S E T S E E P K p.920
. . . . . . g.56236
ATTGAGCATGTAATGCAACCCTTGCTTCATCAACCATCAGATAACCAGAAAATTTACCAG c.2820
I E H V M Q P L L H Q P S D N Q K I Y Q p.940
| 16 . . . . . g.58659
GATTTATTG | GGTCAAGTAAACCACCTATTAAATAGTTCCTCCAAGGAAACTGAGCAGCCG c.2880
D L L | G Q V N H L L N S S S K E T E Q P p.960
. . . . . . g.58719
TCTACCAAAGCAGTAATTATCAGTCATGAATGCACCAGAACCCAAAACGTTTACCATACA c.2940
S T K A V I I S H E C T R T Q N V Y H T p.980
. . . . . . g.58779
AAGAAAAAAACACATCATTCAAGACTGGTGGACAAAGATTGTGTCCTTAATGCAACTCTT c.3000
K K K T H H S R L V D K D C V L N A T L p.1000
. . . . . . g.58839
AAGCAACTAAGAAGCCTTGGAGTAAAAATTGATTCTCCCACTAAAGTGAAGAAAAATGCA c.3060
K Q L R S L G V K I D S P T K V K K N A p.1020
. . | 17 . . . . g.67265
CATAACGTGGATCACGCCAG | TGTGTTGGCATGCATCAGCCCAGAAGCAGTGATCTCTGGA c.3120
H N V D H A S | V L A C I S P E A V I S G p.1040
. . . . . . g.67325
TTAAACTGCATGTCATTTGCTAATGTTGGCATGAGCGGCTTAAGCCCCAATGGTGTGGAT c.3180
L N C M S F A N V G M S G L S P N G V D p.1060
. . . . . . g.67385
TTGAGCATGGAGGCAAATGCTATAGCTCTGAAATATTTAAATGAAAATCAGCTGTCACAA c.3240
L S M E A N A I A L K Y L N E N Q L S Q p.1080
. . . . . . g.67445
CTGTCTGTCACTCGATCGAACCAAAATAATTGTGACCCATTCAGCCTTCTCCATATTAAT c.3300
L S V T R S N Q N N C D P F S L L H I N p.1100
. . . . . . g.67505
ACAGACAGAAGCACAGTGGGGCTTAGTTTAATTTCACCAAACAACATGTCATTTGCAACC c.3360
T D R S T V G L S L I S P N N M S F A T p.1120
. . . . . . g.67565
AAAAAATATATGAAGAGATATGGACTCCTACAAAGCAGTGACAATAGTGAAGATGAAGAG c.3420
K K Y M K R Y G L L Q S S D N S E D E E p.1140
. . . . . . g.67625
GAACCTCCCGACAATGCAGATAGCAAGAGTGAATATTTATTGAATCAGAACCTTAGGTCC c.3480
E P P D N A D S K S E Y L L N Q N L R S p.1160
. . . . . . g.67685
ATACCTGAACAGCTTGGTGGTCAGAAAGAGCCTTCTAAGAATGACCATGAAATAATTAAT c.3540
I P E Q L G G Q K E P S K N D H E I I N p.1180
. . . . . . g.67745
TGTTCTAACTGTGAATCTGTGGGGACCAACGCAGATACGCCAGTATTGAGAAATATTACA c.3600
C S N C E S V G T N A D T P V L R N I T p.1200
. . . . . . g.67805
AATGAAGTTTTGCAGACAAAAGCAAAACAGCAGTTGACTGAAAAGCCAGCTTTCTTAGTA c.3660
N E V L Q T K A K Q Q L T E K P A F L V p.1220
. . . . . . g.67865
AAGAACCTTAAACCAAGTCCTGCAGTGAACCTTCGAACCGGGAAAGCAGAGTTCACTCAA c.3720
K N L K P S P A V N L R T G K A E F T Q p.1240
. . . . . . g.67925
CATCCTGAGAAAGAAAATGAAGGGGACATTACAATTTTTCCTGAAAGTTTGCAACCTTCT c.3780
H P E K E N E G D I T I F P E S L Q P S p.1260
. . . . . . g.67985
GAAACGCTAAAGCAGATGAATAGCATGAATTCAGTAGGCACCTTCTTAGATGTAAAACGT c.3840
E T L K Q M N S M N S V G T F L D V K R p.1280
. . g.68012
CTCAGACAGTTACCAAAATTATTTTAA c.3867
L R Q L P K L F X p.1288
. . . . . . g.68072
ccttttaactccctgcccttttaatacagggacagggtgtctcctgaagatacttaggga c.*60
. . . . . . g.68132
aaacaggagcctaccacaaggctcctgatcattctggagtcactgtttcttggtagcagc c.*120
. . . . . . g.68192
caattgggaagagtgacttctgtgagatggctggctggtgataggactaagttctcattg c.*180
. . . . . . g.68252
ttcaaatagagctgttcaacatcactgaaacctttaagaaaagccctgagatcagttatt c.*240
. . . . . . g.68312
cctacaagtttaagtagtagacagatactatccagctctaagtctcaactgctcttttat c.*300
. . . . . . g.68372
actgtacttttttttttgagacggagttttgctcttgtagcccaggctggagtgcaatgg c.*360
. . . . . . g.68432
caggatctcagatcactgcaacctctgcctcctgggttcaagcgattttcctgcttcatc c.*420
. . . . . . g.68492
ttcccaggtagctgggattacaggcatgtgccacaacgcctggctaattttgtattttta c.*480
. . . . . . g.68552
gtagagactggtttctccatgttggtcaggctggtctcaaactcccgacctcaggtgatc c.*540
. . . . . . g.68612
cgcccgcctcggcctcctaaagtgctgggattacaggcgtgagccactgcgcccagctat c.*600
. . . . . . g.68672
actgtatattttaagaagttccagcatgttgcatctctgcatttatcctatatcattaaa c.*660
. . . . . . g.68732
agaacataagttatcatggtgttgggtaaattagcgaaatcaacccttcctaagtttaag c.*720
. . . . . . g.68792
ggaaaagttatttttaaaaacaacttaataaaaacttacactcttttatacaagagtgta c.*780
. . . . . . g.68852
tttccccttaattaggatgcatgttgattaaactcgagatacagctttttgcagtatggt c.*840
. . . . . . g.68912
gggttggttttggtgtaacatcttcaacatgtcacactggctatcaaagaataagaaaat c.*900
. . . . . . g.68972
tattgagtatgagtgtgttttataaactttctgagtttttcagatgtcttaatatttttt c.*960
. . . g.69009
aatagaacttaataaaatgtctagattgactattttc c.*997
(downstream sequence)
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