(used for variant description)
(last modified September 2, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_001203.2 in the BMPR1B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009245.1, covering BMPR1B transcript NM_001203.2.
(upstream sequence)
. . . g.5034
cgcggggcgcggagtcggcggggcctcgcgggac c.-241
. . . . . . | 02 g.122856
gccgggcagtgcggagaccgcggcgctgaggacgcgggagccgggagcgcagccgcgg | gg c.-181
. . . . . . g.122916
tggagttcagcctactctttcttagatgtgaaaggaaaggaagatcatttcatgccttgt c.-121
. | 03. . . . . g.243115
tgataaag | gttcagacttctgctgattcataaccatttggctctgagctatgacaagaga c.-61
. . . . . | 04 . g.351448
ggaaacaaaaagttaaacaagcaagcctgccataagtgagaag | caaacttccttgataac c.-1
. . . . . . g.351508
ATGCTTTTGCGAAGTGCAGGAAAATTAAATGTGGGCACCAAGAAAGAGGATGGTGAGAGT c.60
M L L R S A G K L N V G T K K E D G E S p.20
. . . . . . g.351568
ACAGCCCCCACCCCCCGTCCAAAGGTCTTGCGTTGTAAATGCCACCACCATTGTCCAGAA c.120
T A P T P R P K V L R C K C H H H C P E p.40
. . | 05 . . . . g.361780
GACTCAGTCAACAATATTTGCAG | CACAGACGGATATTGTTTCACGATGATAGAAGAGGAT c.180
D S V N N I C S | T D G Y C F T M I E E D p.60
. . . . . . g.361840
GACTCTGGGTTGCCTGTGGTCACTTCTGGTTGCCTAGGACTAGAAGGCTCAGATTTTCAG c.240
D S G L P V V T S G C L G L E G S D F Q p.80
| 06 . . . . . . g.362762
TGTCGG | GACACTCCCATTCCTCATCAAAGAAGATCAATTGAATGCTGCACAGAAAGGAAC c.300
C R | D T P I P H Q R R S I E C C T E R N p.100
. . . . | 07 . g.370844
GAATGTAATAAAGACCTACACCCTACACTGCCTCCATTGAAAAACAGAG | ATTTTGTTGAT c.360
E C N K D L H P T L P P L K N R D | F V D p.120
. . . . . . g.370904
GGACCTATACACCACAGGGCTTTACTTATATCTGTGACTGTCTGTAGTTTGCTCTTGGTC c.420
G P I H H R A L L I S V T V C S L L L V p.140
. . | 08 . . . . g.372040
CTTATCATATTATTTTGTTACTTCCG | GTATAAAAGACAAGAAACCAGACCTCGATACAGC c.480
L I I L F C Y F R | Y K R Q E T R P R Y S p.160
. . . . . . g.372100
ATTGGGTTAGAACAGGATGAAACTTACATTCCTCCTGGAGAATCCCTGAGAGACTTAATT c.540
I G L E Q D E T Y I P P G E S L R D L I p.180
. . . . | 09 . . g.376900
GAGCAGTCTCAGAGCTCAGGAAGTGGATCAGGCCTCCCTCTGCTG | GTCCAAAGGACTATA c.600
E Q S Q S S G S G S G L P L L | V Q R T I p.200
. . . . . . g.376960
GCTAAGCAGATTCAGATGGTGAAACAGATTGGAAAAGGTCGCTATGGGGAAGTTTGGATG c.660
A K Q I Q M V K Q I G K G R Y G E V W M p.220
. . . . . . g.377020
GGAAAGTGGCGTGGCGAAAAGGTAGCTGTGAAAGTGTTCTTCACCACAGAGGAAGCCAGC c.720
G K W R G E K V A V K V F F T T E E A S p.240
. . . . . | 10 g.378240
TGGTTCAGAGAGACAGAAATATATCAGACAGTGTTGATGAGGCATGAAAACATTTTGG | GT c.780
W F R E T E I Y Q T V L M R H E N I L G | p.260
. . . . . . g.378300
TTCATTGCTGCAGATATCAAAGGGACAGGGTCCTGGACCCAGTTGTACCTAATCACAGAC c.840
F I A A D I K G T G S W T Q L Y L I T D p.280
. . . . . . g.378360
TATCATGAAAATGGTTCCCTTTATGATTATCTGAAGTCCACCACCCTAGACGCTAAATCA c.900
Y H E N G S L Y D Y L K S T T L D A K S p.300
. . . . . . g.378420
ATGCTGAAGTTAGCCTACTCTTCTGTCAGTGGCTTATGTCATTTACACACAGAAATCTTT c.960
M L K L A Y S S V S G L C H L H T E I F p.320
. . . . . . g.378480
AGTACTCAAGGCAAACCAGCAATTGCCCATCGAGATCTGAAAAGTAAAAACATTCTGGTG c.1020
S T Q G K P A I A H R D L K S K N I L V p.340
. . . . . | 11 . g.395775
AAGAAAAATGGAACTTGCTGTATTGCTGACCTGGGCCTGGCTGTTAAATTTATTAG | TGAT c.1080
K K N G T C C I A D L G L A V K F I S | D p.360
. . . . . . g.395835
ACAAATGAAGTTGACATACCACCTAACACTCGAGTTGGCACCAAACGCTATATGCCTCCA c.1140
T N E V D I P P N T R V G T K R Y M P P p.380
. . . . . . g.395895
GAAGTGTTGGACGAGAGCTTGAACAGAAATCACTTCCAGTCTTACATCATGGCTGACATG c.1200
E V L D E S L N R N H F Q S Y I M A D M p.400
. . . . . | 12 . g.399674
TATAGTTTTGGCCTCATCCTTTGGGAGGTTGCTAGGAGATGTGTATCAGGAG | GTATAGTG c.1260
Y S F G L I L W E V A R R C V S G G | I V p.420
. . . . . . g.399734
GAAGAATACCAGCTTCCTTATCATGACCTAGTGCCCAGTGACCCCTCTTATGAGGACATG c.1320
E E Y Q L P Y H D L V P S D P S Y E D M p.440
. . . . . . g.399794
AGGGAGATTGTGTGCATCAAGAAGTTACGCCCCTCATTCCCAAACCGGTGGAGCAGTGAT c.1380
R E I V C I K K L R P S F P N R W S S D p.460
| 13 . . . . . . g.401628
GAG | TGTCTAAGGCAGATGGGAAAACTCATGACAGAATGCTGGGCTCACAATCCTGCATCA c.1440
E | C L R Q M G K L M T E C W A H N P A S p.480
. . . . . . g.401688
AGGCTGACAGCCCTGCGGGTTAAGAAAACACTTGCCAAAATGTCAGAGTCCCAGGACATT c.1500
R L T A L R V K K T L A K M S E S Q D I p.500
g.401697
AAACTCTGA c.1509
K L X p.502
. . . . . . g.401757
taggagaggaaaagtaagcatctctgcagaaagccaacaggtactcttctgtttgtgggc c.*60
. . . . . . g.401817
agagcaaaagacatcaaataagcatccacagtacaagccttgaacatcgtcctgcttccc c.*120
. . . . . . g.401877
agtgggttcagacctcacctctcagggagcgacctgggcaaagacagagaagctcccaga c.*180
. . . . . . g.401937
aggagagattgatccatgtctgtttgtaggacggagaaaccgcttgggtaacttgttcaa c.*240
. . . . . . g.401997
gatatgatgcatgttgctttctaagaaagccctgtattttgtgattgccttttttttttt c.*300
. . . . . . g.402057
ttaagatgctttcattttgccaaaataaaacagataatgtggatggtttaagggttatag c.*360
. . . . . . g.402117
tattatagtttaaataataacaacaaaattcttcccaggaactctgctggaaggtaaatt c.*420
. . . . . . g.402177
aaaatacttgtttttccattggtaaaatattgttgcactctgtgaaccaaaagacagtct c.*480
. . . . . . g.402237
aagttggaggacatagaacggaactcatcttaaacatactccccaccccgtcttggcctc c.*540
. . . . . . g.402297
ctcagaccactttggccatccctgcatttggggccgctatggtaatgtgaatgcactggg c.*600
. . . . . . g.402357
tacaaacaccgcctgtctaggaccacatttggaattcctgcaggtggccttttgcagctt c.*660
. . . . . . g.402417
caggcaatatggaacaaatgaaggtttatgtgactctaatagaagtaattgttgataggt c.*720
. . . . . . g.402477
gttcttcagatccacttctgtttctgattgagttaggcatctctttcatggtaaaaccct c.*780
. . . . . . g.402537
tttcattaaacacaaagaaagcttttttttttttttttttttttttttttttttaatgtg c.*840
. . . . . . g.402597
cagaggattgacctgtgcatgcttttgatctctcattcaaaggatcaatattaaataaaa c.*900
. . . . . . g.402657
ttgtcatgagctgtgttgaagacagggtgctttcaaatagaggtaatttgctcttgtgtt c.*960
. . . . . . g.402717
gtaagaggaacatgtcaacaaagataggaaatgagggtgatcgtgcagatggcttgtatc c.*1020
. . . . . . g.402777
ttatatatgcaaaggagccaatctcagaagcacaaagaaaaaagtgtgcataccttattt c.*1080
. . . . . . g.402837
tgtacagataaagatgatgtctttttgttattgtctgtctgttttgtatgtgtctgagat c.*1140
. . . . . . g.402897
aagggatagagaggaaacatccgtcaggctaatttaactacattttattttaaaaataga c.*1200
. . . . . . g.402957
gaaacataacctctagatgggacagcagaggacagttagtagaggccacaaactgttatg c.*1260
. . . . . . g.403017
ggctgctgtgttttgttctaaaatcaatatggttggagcatgtatatcttaggtgatcat c.*1320
. . . . . . g.403077
ttcacatcttaggaatgcctactcattttattttattctagtgatgctcaattcactatt c.*1380
. . . . . . g.403137
taatttattatattttctcttctgtggcacttatacaaaatatctcttcacctacttagt c.*1440
. . . . . . g.403197
tctacagggttttaactttggagcaacatgaataaaatcatcgagaaggccaatattgtt c.*1500
. . . . . . g.403257
tagcaacatgaatacaatacagtttaaagttgtacacatcctgctcaactttattcatat c.*1560
. . . . . . g.403317
acatttcctttctgtggttttcttttgcttcttagaaattctgttagtggttagtaaaga c.*1620
. . . . . . g.403377
atttgaaagtactttctccttgctgtttttttttttttttaagacattcctcccagaata c.*1680
. . . . . . g.403437
ctccagggggcagtgttttataacacattttccccactgggtgattgaaggatggaggat c.*1740
. . . . . . g.403497
ttttgaaaatttgacagctacatgaaacatgagaaaacattttcctcacttctgaagtcg c.*1800
. . . . . . g.403557
gtttgcagctggtaacttgttcatccagaaaacattctaaagcaatgagactttgtgagc c.*1860
. . . . . . g.403617
tgtgcttacagtttgggagaatcatgaagattctttctatattttgcatttacttcccag c.*1920
. . . . . . g.403677
tgcttcatagctgcattttgtttgtaactaagacagaagaatttcgtaatccttgaaatt c.*1980
. . . . . . g.403737
gaaaaaaaaaaaattgtgtttttaaagagtgaaaacagttagaaaacaagtagaactgta c.*2040
. . . . . . g.403797
atcagaacgctgcttcaattgatattaaaaataacctcaataataatgtaaaggttcctt c.*2100
. . . . . . g.403857
tctcttgtgtcagttatattcttagggatagcctagaaggaatatatggttagaactaag c.*2160
. . . . . . g.403917
tgtgactaatcatctgagccttgaagagaaacttcagtgcctctaaacagatcatctaca c.*2220
. . . . . . g.403977
aaacaacaggtaaacatttatgccagttaagtgggtcatgtttttgtttcttgggttttt c.*2280
. . . . . . g.404037
cctaaatttaagtgaggttgggcttaccttgtagataaaattatgttttctttttggtaa c.*2340
. . . . . . g.404097
atacttgaacgtggataacgtcaaatcagaatattttgtgaggaggtgatgatttgaaat c.*2400
. . . . . . g.404157
taagctagatttctagggaggtgttggttccaatgaaggatgggaagaaattaaaatagt c.*2460
. . . . . . g.404217
cttcaaacttcttccttattatatttggttgctttggaaaagattggtcctatcctcaat c.*2520
. . . . . . g.404277
ctaatttattcactattaatattttaaaaacattcctgagatacttaaaaagacccactt c.*2580
. . . . . . g.404337
agcgattatagttgctcaatgaaacaagaatttatttatgcatagatttttctctgtatc c.*2640
. . . . . . g.404397
ttaccaaaatccactttacttagataacactaaattgttcttaaagactactcatttccc c.*2700
. . . . . . g.404457
aataatcctttatgatttcaaaatttctagtggctcagaagtgaattttattttatttgt c.*2760
. . . . . . g.404517
ctttcacttgaataaatgagaacccagaaattaataatgttgtttattgcttactgtcag c.*2820
. . . . . . g.404577
gactatttcaaagactaagaagagtttcttctaacccctccctctcaaaggaatcctaaa c.*2880
. . . . . . g.404637
ttattagttgttagataagttttgtatgctaagatattcaggtttatagtttatgtatgt c.*2940
. . . . . . g.404697
gtgtatatatataaatatatatgtatatataaatattatgttcagtttggagtctggcac c.*3000
. . . . . . g.404757
aactccattatgtggattagagagtaagatattatggatgataaagtactaaatgaaaca c.*3060
. . . . . . g.404817
taatatttatttataaaagtgtgtagattgttaaatcacaaaaagagtgctatgaccatt c.*3120
. . . . . . g.404877
atgtatgaggaaacaggcctttgacctcctggaaagcactgctcaaaagtcattagtgcc c.*3180
. . . . . . g.404937
catttttgaattccccaaacagaaagcttcttagaaaacatgctgagattttatttacag c.*3240
. . . . . . g.404997
ggaattctttgacacatttcaattggtgtgtagtcaagtatagcaagtacttaataatga c.*3300
. . . . . . g.405057
ctgaatttcatgttcctacagtcatacatattcattagaagttttatgttgttggtctga c.*3360
. . . . . . g.405117
tctgattcttctttgtttgtgggtggaacggcactgagagaagtatagttttttaaactt c.*3420
. . . . . . g.405177
gaacatgttcagtagttacattgccttagaaaacccagacacatagcagtggaaatgaaa c.*3480
. . . . . . g.405237
gaaatggcatcagaagtgacttaatttagcaattgtgattcctcttgtaaaacaaaacaa c.*3540
. . . . . . g.405297
aaaaacaatgccatattttttggagaaaagttggcaatataggggtttcgttgtctgttt c.*3600
. . . . . . g.405357
cacaagaagactcatttgttcttttgggggaaccagtgccttacagattttgtatatact c.*3660
. . . . . . g.405417
gtaattattcaggactagggaacaaacaattgtattgtatttgttacagattgtatatgg c.*3720
. . . . . g.405474
ctttgttttaacattcccctaaataaaatggcttcattctccccttggaaaaaaaca c.*3777
(downstream sequence)
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