(used for variant description)
(last modified January 25, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_080597.3 in the OSBPL1A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029432.1, covering OSBPL1A transcript NM_080597.3.
(upstream sequence)
. . . g.5037
caggggcgggctgcggggaggggcggcgccacctcgc c.-181
. . . . . . g.5097
gctccgccgtggtcccggcgccgggtcccggagacagacgttacgcgggctcgagcgtcc c.-121
. . . . . . g.5157
tcggggagtgccagccagagttggtgacgaccacttcctcgacgtggggcgggcggacgg c.-61
. . . . . . | 02 g.25336
gaagcctggggtcgtggccaccgcctcgggagctctgggagcccgggtgaccgcgtag | aa c.-1
. . . . . . g.25396
ATGAACACAGAAGCGGAGCAACAGCTTCTCCATCACGCCAGAAATGGCAATGCTGAAGAA c.60
M N T E A E Q Q L L H H A R N G N A E E p.20
. . . . . . g.25456
GTAAGACAACTATTAGAGACCATGGCGAGGAATGAAGTGATTGCTGACATTAATTGCAAA c.120
V R Q L L E T M A R N E V I A D I N C K p.40
| 03 . . . . . . g.34556
G | GAAGAAGTAAGTCTAACTTGGGCTGGACACCTCTACATCTGGCATGCTATTTTGGACAC c.180
G | R S K S N L G W T P L H L A C Y F G H p.60
. . | 04. . . . g.35936
AGACAAGTGGTCCAGGATCTGTTGAAG | GCTGGTGCAGAAGTGAATGTGTTGAATGACATG c.240
R Q V V Q D L L K | A G A E V N V L N D M p.80
. . . . | 05 . . g.61229
GGAGACACGCCGCTTCATCGAGCTGCCTTTACAGGACGAAAG | GAGTTGGTAATGCTTCTC c.300
G D T P L H R A A F T G R K | E L V M L L p.100
. . . . . . g.61289
TTAGAATATAATGCTGATACTACTATTGTTAATGGGAGTGGACAGACAGCAAAAGAAGTT c.360
L E Y N A D T T I V N G S G Q T A K E V p.120
. . . | 06 . . . g.68565
ACTCATGCTGAAGAAATCAGAAGCATGCTTGAAG | CTGTAGAAAGGACTCAACAAAGAAAG c.420
T H A E E I R S M L E A | V E R T Q Q R K p.140
. . . . . . g.68625
CTTGAAGAATTACTTTTAGCAGCAGCAAGAGAAGGCAAAACAACAGAACTCACAGCTCTG c.480
L E E L L L A A A R E G K T T E L T A L p.160
| 07 . . . . . . g.69843
| CTCAACAGGCCCAATCCTCCTGATGTTAACTGTTCGGATCAGTTAGGAAATACACCCTTG c.540
| L N R P N P P D V N C S D Q L G N T P L p.180
. . . . . . g.69903
CATTGTGCAGCTTACCGGGCCCATAAACAATGTGCCTTAAAGCTTCTAAGAAGTGGAGCA c.600
H C A A Y R A H K Q C A L K L L R S G A p.200
. . | 08 . . . . g.84095
GACCCTAATCTGAAGAACAAAAATG | ATCAGAAACCTCTTGACCTTGCCCAGGGTGCTGAA c.660
D P N L K N K N D | Q K P L D L A Q G A E p.220
. . | 09. . . . g.84257
ATGAAACACATTCTTGTTGGTAATAAG | GTCATCTACAAAGCATTGAAACGATATGAGGGC c.720
M K H I L V G N K | V I Y K A L K R Y E G p.240
. | 10 . . . . . g.85517
CCTCTCTGGAAG | AGTTCAAGATTTTTTGGCTGGAGATTATTCTGGGTAGTGTTAGAGCAT c.780
P L W K | S S R F F G W R L F W V V L E H p.260
. . | 11 . . . . g.85691
GGAGTCCTTTCATGGTATAGGAAACA | GCCTGATGCAGTTCATAATATTTATCGCCAGGGA c.840
G V L S W Y R K Q | P D A V H N I Y R Q G p.280
. . . | 12 . . . g.88552
TGCAAACACCTGACTCAAGCAGTATGCACG | GTAAAATCCACTGATAGCTGCCTCTTCTTT c.900
C K H L T Q A V C T | V K S T D S C L F F p.300
. . . . . . g.88612
ATTAAATGCTTTGATGACACCATTCATGGCTTCCGGGTTCCTAAGAATAGCCTTCAGCAG c.960
I K C F D D T I H G F R V P K N S L Q Q p.320
| 13 . . . . . g.90814
TCAAGAGAG | GACTGGCTGGAAGCAATAGAAGAACATTCTGCTTACAGCACTCACTACTGT c.1020
S R E | D W L E A I E E H S A Y S T H Y C p.340
. . . . . . g.90874
TCCCAGGACCAGCTGACTGATGAGGAGGAGGAAGATACGGTTTCTGCTGCAGACCTGAAG c.1080
S Q D Q L T D E E E E D T V S A A D L K p.360
. | 14 . . . . . g.99199
AAATCATTAGAG | AAAGCACAGTCATGCCAACAGCGACTAGATAGGGAAATTTCCAACTTT c.1140
K S L E | K A Q S C Q Q R L D R E I S N F p.380
. . . | 15 . . . g.121947
CTCAAAATGATTAAGGAGTGTGACATGGCTAAAG | AAATGCTTCCATCATTTCTTCAGAAA c.1200
L K M I K E C D M A K E | M L P S F L Q K p.400
. . . . . . g.122007
GTTGAAGTTGTCTCAGAAGCTTCTAGAGAAACTTGTGTAGCTTTGACTGATTGCCTTAAT c.1260
V E V V S E A S R E T C V A L T D C L N p.420
. . | 16 . . . . g.163526
CTCTTCACCAAACAAGAAGGG | GTGAGGAATTTTAAATTGGAACAAGAGCAAGAAAAAAAC c.1320
L F T K Q E G | V R N F K L E Q E Q E K N p.440
. . . . . . g.163586
AAAATCTTGTCAGAAGCACTGGAGACGCTGGCCACTGAACATCATGAATTAGAGCAGTCT c.1380
K I L S E A L E T L A T E H H E L E Q S p.460
. . . . . . g.163646
CTGGTGAAAGGCTCTCCACCCGCCAGCATCCTTAGCGAGGACGAGTTCTATGATGCGCTG c.1440
L V K G S P P A S I L S E D E F Y D A L p.480
| 17 . . . . . . g.177727
TCAG | ATTCCGAGTCCGAAAGGTCCCTGAGTAGATTGGAAGCAGTGACAGCACGCTCCTTT c.1500
S D | S E S E R S L S R L E A V T A R S F p.500
. . . . . . g.177787
GAAGAGGAAGGAGAGCATTTGGGCAGTAGAAAACACAGAATGTCCGAAGAAAAAGACTGT c.1560
E E E G E H L G S R K H R M S E E K D C p.520
. . . . | 18 . . g.206688
GGTGGCGGAGATGCTCTCTCCAATGGCATCAAGAAACACAG | AACAAGTTTGCCTTCTCCT c.1620
G G G D A L S N G I K K H R | T S L P S P p.540
. . . . . | 19. g.221593
ATGTTTTCCAGAAATGACTTCAGTATCTGGAGCATCCTCAGAAAATGTATTGGAATG | GAA c.1680
M F S R N D F S I W S I L R K C I G M | E p.560
. . . . . . g.221653
CTATCCAAGATCACGATGCCAGTTATATTTAATGAGCCTCTGAGCTTCCTACAGCGCCTA c.1740
L S K I T M P V I F N E P L S F L Q R L p.580
. . . . . . g.221713
ACTGAATACATGGAGCATACTTACCTCATCCACAAGGCCAGTTCACTCTCTGATCCTGTG c.1800
T E Y M E H T Y L I H K A S S L S D P V p.600
. | 20 . . . . . g.223082
GAAAGGATGCAG | TGTGTAGCTGCGTTTGCTGTATCTGCTGTTGCTTCTCAGTGGGAACGG c.1860
E R M Q | C V A A F A V S A V A S Q W E R p.620
. . . . . | 21 . g.224684
ACTGGAAAACCTTTCAACCCACTGCTGGGAGAGACTTATGAATTAGTGCG | AGATGACCTT c.1920
T G K P F N P L L G E T Y E L V R | D D L p.640
. . . . . . g.224744
GGATTTAGACTCATCTCCGAACAGGTCAGCCATCACCCACCAATCAGTGCATTTCATGCT c.1980
G F R L I S E Q V S H H P P I S A F H A p.660
. . . . . . g.224804
GAAGGATTAAACAATGACTTCATCTTTCATGGCTCTATCTATCCCAAACTGAAATTCTGG c.2040
E G L N N D F I F H G S I Y P K L K F W p.680
. . . . . | 22 . g.230393
GGGAAGAGTGTAGAAGCAGAACCCAAAGGAACCATCACCTTGGAGCTCCTTGA | ACACAAT c.2100
G K S V E A E P K G T I T L E L L E | H N p.700
. . . . . . g.230453
GAGGCATATACATGGACAAATCCCACCTGCTGTGTGCATAATATCATTGTGGGTAAACTG c.2160
E A Y T W T N P T C C V H N I I V G K L p.720
. . . . | 23 . . g.231390
TGGATCGAACAGTATGGCAATGTGGAAATTATAAACCACAA | GACTGGGGACAAATGTGTG c.2220
W I E Q Y G N V E I I N H K | T G D K C V p.740
. . . . . . g.231450
TTGAATTTTAAGCCATGTGGCCTTTTTGGTAAGGAATTACACAAAGTTGAAGGCTACATT c.2280
L N F K P C G L F G K E L H K V E G Y I p.760
. | 24 . . . . . g.232465
CAAGATAAAAG | CAAAAAGAAGCTCTGTGCCCTCTATGGGAAGTGGACTGAATGTTTATAC c.2340
Q D K S | K K K L C A L Y G K W T E C L Y p.780
. . . . . . g.232525
AGTGTTGACCCTGCCACGTTTGACGCTTACAAAAAAAATGATAAGAAAAATACAGAAGAG c.2400
S V D P A T F D A Y K K N D K K N T E E p.800
. | 25 . . . . g.235466
AAGAAGAACAGCAAACAG | ATGAGCACCTCTGAGGAGTTGGATGAAATGCCAGTGCCGGAT c.2460
K K N S K Q | M S T S E E L D E M P V P D p.820
. . . . . . g.235526
TCTGAAAGTGTATTCATTATCCCTGGAAGCGTTCTTCTATGGCGAATAGCCCCACGGCCT c.2520
S E S V F I I P G S V L L W R I A P R P p.840
. | 26 . . . . . g.236212
CCAAATTCTGCCCAG | ATGTATAATTTTACTAGTTTTGCAATGGTTTTGAATGAAGTAGAC c.2580
P N S A Q | M Y N F T S F A M V L N E V D p.860
. . . . . . g.236272
AAAGACATGGAGAGTGTGATTCCCAAGACAGACTGCAGGTTACGGCCTGACATCAGAGCC c.2640
K D M E S V I P K T D C R L R P D I R A p.880
. | 27 . . . . g.237755
ATGGAAAATGGAGAGATAG | ATCAAGCTAGTGAAGAAAAAAAACGACTTGAGGAAAAACAA c.2700
M E N G E I D | Q A S E E K K R L E E K Q p.900
. . . . . | 28 . g.239598
AGAGCAGCCCGCAAAAACAGGTCCAAGTCAGAAGAGGACTGGAAGACGAG | GTGGTTCCAT c.2760
R A A R K N R S K S E E D W K T R | W F H p.920
. . . . . . g.239658
CAAGGTCCTAATCCCTACAATGGAGCACAGGACTGGATTTACTCTGGCAGCTACTGGGAC c.2820
Q G P N P Y N G A Q D W I Y S G S Y W D p.940
. . . g.239691
AGAAATTACTTCAATTTGCCTGACATTTATTAA c.2853
R N Y F N L P D I Y X p.950
. . . . . . g.239751
aatgcatacaagtcagggtgtttggctaatctacaaataagtcttaaacctatgttttta c.*60
. . . . . . g.239811
aatttttttcccttggtttctacttatcttttaaaaaaaaaaatgaaaaaacactcatga c.*120
. . . . . . g.239871
gataactgcatttcacccaacaaaagcagggtataaggcgatattggtgatgaaagtctt c.*180
. . . . . . g.239931
aggaaaaatgcataattttgctataaaatgtacttatttggaatactattttatatagag c.*240
. . . . . . g.239991
gtaagagaacactgctggggaatatgctttttatggttgctgttgccatatttactgaag c.*300
. . . . . . g.240051
gtttatacctaaatgtaactttagctttatggaactatatagtaatcccaaatcaagtta c.*360
. . . . . . g.240111
ttttgaatatttttatgctgtcatgcttgaatgttttagatgtaacctttgacatattta c.*420
. . . . . . g.240171
gaactctcctcctatacaatgtttattctcagatatagaggttatgtcattttataaaga c.*480
. . . . . . g.240231
cttcattgataagatggcttttattcatactaatcctcccaatgttaccccttccatctt c.*540
. . . . . . g.240291
ccaagaagaaaaaaaatgcctgaatattcagaatagatatttctgatttgaaaattctaa c.*600
. . . . . . g.240351
agaattaaactggaaaagtatttcatttacttagtgctctgaatttacttttacagtttt c.*660
. . . . . . g.240411
ctgcagtcagtatcattaaaatggttaagtttacatttgaactgaaaatatgtataaaat c.*720
. . . . . . g.240471
ctagcaattcacaaaaatgccctagaaatatagattttaatcaccattacataatgacaa c.*780
. . . . . . g.240531
accttgttaaatgcttccacttccagtggcaaatgccactagggaaagtaagttgcactc c.*840
. . . . . . g.240591
atgtaagtatcaaactatataaaaggaggccttgtgcatttcaagtttgcaaagtacctg c.*900
. . . . . . g.240651
tgtacttaaaatatgtgtggagacctactgtacagtagttttgcccctttaattggggca c.*960
. . . . . . g.240711
cattcatcttaaatcttatagtatttatccacccaaaccccagactgagatactgctccc c.*1020
. . . . . . g.240771
aggggcctaggtagctgccagtccgtgattttaattgctgtcttgaagttaacaagtgtt c.*1080
. . . . . g.240825
ataatgaaataatctacctgatgctaaataaaggctttagaatgttccccaaaa c.*1134
(downstream sequence)
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