(used for variant description)
(last modified October 9, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_004329.2 in the BMPR1A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009362.1, covering BMPR1A transcript NM_004329.2.
(upstream sequence)
g.5008
gcggccgc c.-541
. . . . . . g.5068
tgcagagattggaatccgcctgccgggcttggcgaaggagaagggaggaggcaggagcga c.-481
. . . . . . g.5128
ggagggaggagggccaagggcgggcaggaaggcttaggctcggcgcgtccgtccgcgcgc c.-421
. . . . . . g.5188
ggcgaagatcgcacggcccgatcgaggggcgaccgggtcggggccgctgcacgccaaggg c.-361
. . . . . . g.5248
cgaaggccgattcgggccccacttcgccccggcggctcgccgcgcccacccgctccgcgc c.-301
. . . . | 02 . . g.87253
cgagggctggaggatgcgttccctggggtccgg | acttatgaaaatatgcatcagtttaat c.-241
. . . . . . g.87313
actgtcttggaattcatgagatggaagcataggtcaaagctgtttggagaaaatcagaag c.-181
. . . | 03. . . g.124260
tacagttttatctagccacatcttggag | gagtcgtaagaaagcagtgggagttgaagtca c.-121
. . . . . . g.124320
ttgtcaagtgcttgcgatcttttacaagaaaatctcactgaatgatagtcatttaaattg c.-61
. . . . . . g.124380
gtgaagtagcaagaccaattattaaaggtgacagtacacaggaaacattacaattgaaca c.-1
. . . . . . g.124440
ATGCCTCAGCTATACATTTACATCAGATTATTGGGAGCCTATTTGTTCATCATTTCTCGT c.60
M P Q L Y I Y I R L L G A Y L F I I S R p.20
| 04. . . . . . g.138476
GTTCAAG | GACAGAATCTGGATAGTATGCTTCATGGCACTGGGATGAAATCAGACTCCGAC c.120
V Q G | Q N L D S M L H G T G M K S D S D p.40
. . . . . . g.138536
CAGAAAAAGTCAGAAAATGGAGTAACCTTAGCACCAGAGGATACCTTGCCTTTTTTAAAG c.180
Q K K S E N G V T L A P E D T L P F L K p.60
. . . . . | 05 . g.140498
TGCTATTGCTCAGGGCACTGTCCAGATGATGCTATTAATAACACATGCAT | AACTAATGGA c.240
C Y C S G H C P D D A I N N T C I | T N G p.80
. . . . . . g.140558
CATTGCTTTGCCATCATAGAAGAAGATGACCAGGGAGAAACCACATTAGCTTCAGGGTGT c.300
H C F A I I E E D D Q G E T T L A S G C p.100
. . . | 06 . . . g.148182
ATGAAATATGAAGGATCTGATTTTCAGTGCAAA | GATTCTCCAAAAGCCCAGCTACGCCGG c.360
M K Y E G S D F Q C K | D S P K A Q L R R p.120
. . . . . . g.148242
ACAATAGAATGTTGTCGGACCAATTTATGTAACCAGTATTTGCAACCCACACTGCCCCCT c.420
T I E C C R T N L C N Q Y L Q P T L P P p.140
. | 07 . . . . . g.148438
GTTGTCATAG | GTCCGTTTTTTGATGGCAGCATTCGATGGCTGGTTTTGCTCATTTCTATG c.480
V V I G | P F F D G S I R W L V L L I S M p.160
. . . . . | 08 . g.160611
GCTGTCTGCATAATTGCTATGATCATCTTCTCCAGCTGCTTTTGTTACAA | ACATTATTGC c.540
A V C I I A M I I F S S C F C Y K | H Y C p.180
. . . . . . g.160671
AAGAGCATCTCAAGCAGACGTCGTTACAATCGTGATTTGGAACAGGATGAAGCATTTATT c.600
K S I S S R R R Y N R D L E Q D E A F I p.200
. . . . . . g.160731
CCAGTTGGAGAATCACTAAAAGACCTTATTGACCAGTCACAAAGTTCTGGTAGTGGGTCT c.660
P V G E S L K D L I D Q S Q S S G S G S p.220
. | 09 . . . . . g.165540
GGACTACCTTTATTG | GTTCAGCGAACTATTGCCAAACAGATTCAGATGGTCCGGCAAGTT c.720
G L P L L | V Q R T I A K Q I Q M V R Q V p.240
. . . . . . g.165600
GGTAAAGGCCGATATGGAGAAGTATGGATGGGCAAATGGCGTGGCGAAAAAGTGGCGGTG c.780
G K G R Y G E V W M G K W R G E K V A V p.260
. . . . . . g.165660
AAAGTATTCTTTACCACTGAAGAAGCCAGCTGGTTTCGAGAAACAGAAATCTACCAAACT c.840
K V F F T T E E A S W F R E T E I Y Q T p.280
. . | 10 . . . g.167565
GTGCTAATGCGCCATGAAAACATACTTG | GTTTCATAGCGGCAGACATTAAAGGTACAGGT c.900
V L M R H E N I L G | F I A A D I K G T G p.300
. . . . . . g.167625
TCCTGGACTCAGCTCTATTTGATTACTGATTACCATGAAAATGGATCTCTCTATGACTTC c.960
S W T Q L Y L I T D Y H E N G S L Y D F p.320
. . . . . . g.167685
CTGAAATGTGCTACACTGGACACCAGAGCCCTGCTTAAATTGGCTTATTCAGCTGCCTGT c.1020
L K C A T L D T R A L L K L A Y S A A C p.340
. . . . . . g.167745
GGTCTGTGCCACCTGCACACAGAAATTTATGGCACCCAAGGAAAGCCCGCAATTGCTCAT c.1080
G L C H L H T E I Y G T Q G K P A I A H p.360
. . . . . . g.167805
CGAGACCTAAAGAGCAAAAACATCCTCATCAAGAAAAATGGGAGTTGCTGCATTGCTGAC c.1140
R D L K S K N I L I K K N G S C C I A D p.380
. . | 11 . . . . g.169915
CTGGGCCTTGCTGTTAAATTCAACAG | TGACACAAATGAAGTTGATGTGCCCTTGAATACC c.1200
L G L A V K F N S | D T N E V D V P L N T p.400
. . . . . . g.169975
AGGGTGGGCACCAAACGCTACATGGCTCCCGAAGTGCTGGACGAAAGCCTGAACAAAAAC c.1260
R V G T K R Y M A P E V L D E S L N K N p.420
. . . . . . g.170035
CACTTCCAGCCCTACATCATGGCTGACATCTACAGCTTCGGCCTAATCATTTGGGAGATG c.1320
H F Q P Y I M A D I Y S F G L I I W E M p.440
. . | 12 . . . . g.171775
GCTCGTCGTTGTATCACAGGAG | GGATCGTGGAAGAATACCAATTGCCATATTACAACATG c.1380
A R R C I T G G | I V E E Y Q L P Y Y N M p.460
. . . . . . g.171835
GTACCGAGTGATCCGTCATACGAAGATATGCGTGAGGTTGTGTGTGTCAAACGTTTGCGG c.1440
V P S D P S Y E D M R E V V C V K R L R p.480
. . . | 13 . . . g.171982
CCAATTGTGTCTAATCGGTGGAACAGTGATGAA | TGTCTACGAGCAGTTTTGAAGCTAATG c.1500
P I V S N R W N S D E | C L R A V L K L M p.500
. . . . . . g.172042
TCAGAATGCTGGGCCCACAATCCAGCCTCCAGACTCACAGCATTGAGAATTAAGAAGACG c.1560
S E C W A H N P A S R L T A L R I K K T p.520
. . . g.172081
CTTGCCAAGATGGTTGAATCCCAAGATGTAAAAATCTGA c.1599
L A K M V E S Q D V K I X p.532
. . . . . . g.172141
tggttaaaccatcggaggagaaactctagactgcaagaactgtttttacccatggcatgg c.*60
. . . . . . g.172201
gtggaattagagtggaataaggatgttaacttggttctcagactctttcttcactacgtg c.*120
. . . . . . g.172261
ttcacaggctgctaatattaaacctttcagtactcttattaggatacaagctgggaactt c.*180
. . . . . . g.172321
ctaaacacttcattctttatatatggacagctttattttaaatgtggtttttgatgcctt c.*240
. . . . . . g.172381
tttttaagtgggtttttatgaactgcatcaagacttcaatcctgattagtgtctccagtc c.*300
. . . . . . g.172441
aagctctgggtactgaattgcctgttcataaaacggtgctttctgtgaaagccttaagaa c.*360
. . . . . . g.172501
gataaatgagcgcagcagagatggagaaatagactttgccttttacctgagacattcagt c.*420
. . . . . . g.172561
tcgtttgtattctacctttgtaaaacagcctatagatgatgatgtgtttgggatactgct c.*480
. . . . . . g.172621
tattttatgatagtttgtcctgtgtccttagtgatgtgtgtgtgtctccatgcacatgca c.*540
. . . . . . g.172681
cgccgggattcctctgctgccatttgaattagaagaaaataatttatatgcatgcacagg c.*600
. . . . . . g.172741
aagatattggtggccggtggttttgtgctttaaaaatgcaatatctgaccaagattcgcc c.*660
. . . . . . g.172801
aatctcatacaagccatttactttgcaagtgagatagcttccccaccagctttatttttt c.*720
. . . . . . g.172861
aacatgaaagctgatgccaaggccaaaagaagtttaaagcatctgtaaatttggactgtt c.*780
. . . . . . g.172921
ttccttcaaccaccattttttttgtggttattatttttgtcacggaaagcatcctctcca c.*840
. . . . . . g.172981
aagttggagcttctattgccatgaaccatgcttacaaagaaagcacttcttattgaagtg c.*900
. . . . . . g.173041
aattcctgcatttgatagcaatgtaagtgcctataaccatgttctatattctttattctc c.*960
. . . . . . g.173101
agtaacttttaaaagggaagttatttatattttgtgtataatgtgctttatttgcaaatc c.*1020
. . . . . . g.173161
acccactcctttacaaccatactttatatatgtacatacattcatactgtagaaaccagc c.*1080
. . . . . . g.173221
tcatgtgtacctcatatcccatccttaagagaagaaatgttataaagtagaactaaatat c.*1140
. . . . . . g.173281
aaattttcagaattaatgcattcaaagtaatatatcaaatccaggactttgttaacttca c.*1200
. . . . . . g.173341
ggtaaaaacttcattagggtaatatcatctcaattttttcaaatgaaaggattctctaat c.*1260
. . . . . . g.173401
tagaaatttatatgtcagagctgttataaatttatcaactgtcaaatatgttctggacag c.*1320
. . . . . . g.173461
ctaaatcatttgagatttttggttttttgatttctattccctaacttgtgaagacaatga c.*1380
. . . . . . g.173521
aaaatcaggcagaaatatttagtatctagtcagtatctgtagctacactgtataactgtt c.*1440
. . g.173550
cttcaataaaatggttcatattttataga c.*1469
(downstream sequence)
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