(used for variant description)
(last modified October 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001720.3 in the BMP8B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering BMP8B transcript NM_001720.3.
(upstream sequence)
. g.5016
actcgcgggaaccgca c.-361
. . . . . . g.5076
ccaagcgggtggctgcaggagctcgcccatcgcccctgcgctgctcggaccgcggccaca c.-301
. . . . . . g.5136
gccggactggcgggtacggcggcgacagacggattggccgagagtcccagtccgcagagt c.-241
. . . . . . g.5196
agccccggcctcgaggcggtggcgtccgcgtcctctcgtccaggagccaggacaggtgtc c.-181
. . . . . . g.5256
gcgcggcgggcgctccagggaccgcgctgaggccgcggtcgccgcccgtcccgccccgcc c.-121
. . . . . . g.5316
ccgccgcccgccgcccgccgagcccagcctccttgccgtcggggcgtccccaggccctgg c.-61
. . . . . . g.5376
gtcggccgcggagccgatgcgcgcccgctgagcgccccagctgagcgcccccggcctgcc c.-1
. . . . . . g.5436
ATGACCGCGCTCCCCGGCCCGCTCTGGCTCCTGGGCCTGGCGCTATGCGCGCTGGGCGGG c.60
M T A L P G P L W L L G L A L C A L G G p.20
. . . . . . g.5496
GGCGGCCCCGGCCTGCGACCCCCGCCCGGCTGTCCCCAGCGACGTCTGGGCGCGCGCGAG c.120
G G P G L R P P P G C P Q R R L G A R E p.40
. . . . . . g.5556
CGCCGGGACGTGCAGCGCGAGATCCTGGCGGTGCTCGGGCTGCCTGGGCGGCCCCGGCCC c.180
R R D V Q R E I L A V L G L P G R P R P p.60
. . . . . . g.5616
CGCGCGCCACCCGCCGCCTCCCGGCTGCCCGCGTCCGCGCCGCTCTTCATGCTGGACCTG c.240
R A P P A A S R L P A S A P L F M L D L p.80
. . . . . . g.5676
TACCACGCCATGGCCGGCGACGACGACGAGGACGGCGCGCCCGCGGAGCGGCGCCTGGGC c.300
Y H A M A G D D D E D G A P A E R R L G p.100
. . . | 02 . . . g.18849
CGCGCCGACCTGGTCATGAGCTTCGTTAACATGG | TGGAGCGAGACCGTGCCCTGGGCCAC c.360
R A D L V M S F V N M V | E R D R A L G H p.120
. . . . . . g.18909
CAGGAGCCCCATTGGAAGGAGTTCCGCTTTGACCTGACCCAGATCCCGGCTGGGGAGGCG c.420
Q E P H W K E F R F D L T Q I P A G E A p.140
. . . . . . g.18969
GTCACAGCTGCGGAGTTCCGGATTTACAAGGTGCCCAGCATCCACCTGCTCAACAGGACC c.480
V T A A E F R I Y K V P S I H L L N R T p.160
. . . . | 03 . . g.19421
CTCCACGTCAGCATGTTCCAGGTGGTCCAGGAGCAGTCCAACAG | GGAGTCTGACTTGTTC c.540
L H V S M F Q V V Q E Q S N R | E S D L F p.180
. . . . . . g.19481
TTTTTGGATCTTCAGACGCTCCGAGCTGGAGACGAGGGCTGGCTGGTGCTGGATGTCACA c.600
F L D L Q T L R A G D E G W L V L D V T p.200
. . . . . . g.19541
GCAGCCAGTGACTGCTGGTTGCTGAAGCGTCACAAGGACCTGGGACTCCGCCTCTATGTG c.660
A A S D C W L L K R H K D L G L R L Y V p.220
. | 04 . . . . . g.29091
GAGACTGAGGACG | GGCACAGCGTGGATCCTGGCCTGGCCGGCCTGCTGGGTCAACGGGCC c.720
E T E D G | H S V D P G L A G L L G Q R A p.240
. . . . . . g.29151
CCACGCTCCCAACAGCCTTTCGTGGTCACTTTCTTCAGGGCCAGTCCGAGTCCCATCCGC c.780
P R S Q Q P F V V T F F R A S P S P I R p.260
. . . . . . g.29211
ACCCCTCGGGCAGTGAGGCCACTGAGGAGGAGGCAGCCGAAGAAAAGCAACGAGCTGCCG c.840
T P R A V R P L R R R Q P K K S N E L P p.280
. . | 05 . . . g.30102
CAGGCCAACCGACTCCCAGGGATCTTTG | ATGACGTCCACGGCTCCCACGGCCGGCAGGTC c.900
Q A N R L P G I F D | D V H G S H G R Q V p.300
. . . . | 06 . g.30671
TGCCGTCGGCACGAGCTCTACGTCAGCTTCCAGGACCTCGGCTGGCTG | GACTGGGTCATC c.960
C R R H E L Y V S F Q D L G W L | D W V I p.320
. . . . . . g.30731
GCTCCCCAAGGCTACTCGGCCTATTACTGTGAGGGGGAGTGCTCCTTCCCACTGGACTCC c.1020
A P Q G Y S A Y Y C E G E C S F P L D S p.340
. . . | 07 . . g.33314
TGCATGAATGCCACCAACCACGCCATCCTGCAGTCCCTG | GTGCACCTGATGATGCCAGAC c.1080
C M N A T N H A I L Q S L | V H L M M P D p.360
. . . . . . g.33374
GCAGTCCCCAAGGCGTGCTGTGCACCCACCAAGCTGAGCGCCACCTCTGTGCTCTACTAT c.1140
A V P K A C C A P T K L S A T S V L Y Y p.380
. . . . . . g.33434
GACAGCAGCAACAATGTCATCCTGCGCAAGCACCGCAACATGGTGGTCAAGGCCTGCGGC c.1200
D S S N N V I L R K H R N M V V K A C G p.400
g.33443
TGCCACTGA c.1209
C H X p.402
. . . . . . g.33503
gtccacccgcccggcccagctgcagccacccttctcatctggatcgggcccctcagaagc c.*60
. . . . . . g.33563
aggaaaccctcaaacccagccagaccccaggccggggcattgccagggaggaccctcaca c.*120
. . . . . . g.33623
accacgtacatgaccctttctccttcatgccaggctcctatgctccccttgccctgccag c.*180
. . . . . . g.33683
gcatttgtgtgactgtcctgtttccagcccaggtggtctcaatcatcaggcagtgttcta c.*240
. . . . . . g.33743
cccaaatgcaaacgcctctcccggaggcatgtcctggctggttctttggggttggcacag c.*300
. . . . . . g.33803
aagtcctgtctgaggtcctatccatgccccttactggctcaggtcgtgagatagatgtgg c.*360
. . . . . . g.33863
aatgacctgagaggcacctggagcccactgttggccaccttgagctcttcaccatccatc c.*420
. . . . . . g.33923
acagggtgtggtgtgtgtagtcagggtctggttggctccccattgcctgcccgaggtgca c.*480
. . . . . . g.33983
aggtggggtataaaactggataacccctgaagtattgtatattcatggatctgaagcact c.*540
. . . . . . g.34043
gatccactggtcacaggtagacatgtggagtcaactcaagaaaaagctgagtgaacagca c.*600
. . . . . . g.34103
tgatttagggctaaagccaatggcatttatcttcccttgtcttcctgctttgcatttgcc c.*660
. . . . . . g.34163
tctgccatctaggaaagacatgtaagagcatggacattttactttggagaaacagaaaaa c.*720
. . . . . . g.34223
tcttggggcttccaattgacccatctatctgccaccatgttgccccaccaggagctcagc c.*780
. . . . . . g.34283
tctgtggagttttccctttgctgagcaagcatgtggttgcattgggtggcccaggatgac c.*840
. . . . . . g.34343
aatgcacagcacagatgccatcatttccctttcccctctgaatggcagacatcagtaatc c.*900
. . . . . . g.34403
aatctggaatgtttttcttccaaatctgagtggaattttcaaatgatcagcacagccact c.*960
. . . . . . g.34463
gccaacagatatgatgtaaagtgaaacctggttgccatcttctgccatgctgaggagcag c.*1020
. . . . . . g.34523
tccatccctgcccgagcatgtatcggcaacatgggcagcctgtgaccgggtctggggcga c.*1080
. . . . . . g.34583
ggccaggggccatcaaaaacaggctgatcaccaaagtcagtgtcaccctggatgcccagc c.*1140
. . . . . . g.34643
agccctgtcctgtgtcttgggcctgtgagtcaaagaaaaggtccttttcagggagtgaca c.*1200
. . . . . . g.34703
agtagtaattaggctgagttgggtggagaggtttgtctcagcctctgctgttctcggaaa c.*1260
. . . . . . g.34763
ctgctgttctccttggagcagccactgggagttggagtgtttatttgatttctgacttgc c.*1320
. . . . . . g.34823
taagcctgtaatttacctgctggaatagacagagtccagctgcccaaaccgtgtcattaa c.*1380
. . . . . . g.34883
aagcagatcctgcgcccgccccatccacaggcacagcccggcagagtggttccacctccc c.*1440
. . . . . . g.34943
catgggcccaaggatgcgcctctctggagttcacgtgctgcacccccagggaggggcctg c.*1500
. . . . . . g.35003
gggaaagctggtccagcagcaggggtggaggctggggccacactgcgggacagcagcccc c.*1560
. . . . . . g.35063
tccacctggaccagggagggcctccatgtgcaagcgcagaggaagagaccctcccatgta c.*1620
. . . . . . g.35123
cgcaaagggcagccccaggctgtctggaagttggagaattccctatcagcacagggatct c.*1680
. . . . . . g.35183
cagctctggcctggaggtgaagagacctgccttgtaggtggcttccttatctgcgcctcc c.*1740
. . . . . . g.35243
attttctatctgcactttttgatctccaaacaaccttcagccaaagaatctgtctaccaa c.*1800
. . . . . . g.35303
ctcctcatagtgagccagaagcagcctcataaccctgaatgtggggctctggtggctgtc c.*1860
. . . . . . g.35363
acgaagcagagttggcacataacatggaacctggccaggcatggtggctcacacctataa c.*1920
. . . . . . g.35423
ccccagcactttgggaggccaaggcaggcagatcacctgaagtcaggagttcaagaccat c.*1980
. . . . . . g.35483
cctggccaacacagtgaaaccccatctgtactaaaaatacaagattacctgggcatggtg c.*2040
. . . . . . g.35543
gtgcatgcctataatcccagctactcaggaggctgaggcagaattgcttgaacctgggag c.*2100
. . . . . . g.35603
gtggaggttgcagtgagcagagatcacaacattgcacttcagcctggtgacatgagcaaa c.*2160
. . g.35631
actgttgtctcaacaaaatgaaattatg c.*2188
(downstream sequence)
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