(used for variant description)
(last modified October 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_014482.1 in the BMP10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering BMP10 transcript NM_014482.1.
(upstream sequence)
. . . g.5039
ggggagaggaagagtggtagggggagggagagagagagg c.-121
. . . . . . g.5099
aagagtttccaaacttgtctccagtgacaggagacatttacgttccacaagataaaactg c.-61
. . . . . . g.5159
ccacttagagcccagggaagctaaaccttcctggcttggcctaggagctcgagcggagtc c.-1
. . . . . . g.5219
ATGGGCTCTCTGGTCCTGACACTGTGCGCTCTTTTCTGCCTGGCAGCTTACTTGGTTTCT c.60
M G S L V L T L C A L F C L A A Y L V S p.20
. . . . . . g.5279
GGCAGCCCCATCATGAACCTAGAGCAGTCTCCTCTGGAAGAAGATATGTCCCTCTTTGGT c.120
G S P I M N L E Q S P L E E D M S L F G p.40
. . . . . . g.5339
GATGTTTTCTCAGAGCAAGACGGTGTCGACTTTAACACACTGCTCCAGAGCATGAAGGAT c.180
D V F S E Q D G V D F N T L L Q S M K D p.60
. . . . . . g.5399
GAGTTTCTTAAGACACTAAACCTCTCTGACATCCCCACGCAGGATTCAGCCAAGGTGGAC c.240
E F L K T L N L S D I P T Q D S A K V D p.80
. . . . . . g.5459
CCACCAGAGTACATGTTGGAACTCTACAACAAATTTGCAACAGATCGGACCTCCATGCCC c.300
P P E Y M L E L Y N K F A T D R T S M P p.100
. . . | 02 . . . g.9972
TCTGCCAACATCATTAGGAGTTTCAAGAATGAAG | ATCTGTTTTCCCAGCCGGTCAGTTTT c.360
S A N I I R S F K N E D | L F S Q P V S F p.120
. . . . . . g.10032
AATGGGCTCCGAAAATACCCCCTCCTCTTCAATGTGTCCATTCCTCACCATGAAGAGGTC c.420
N G L R K Y P L L F N V S I P H H E E V p.140
. . . . . . g.10092
ATCATGGCTGAACTTAGGCTATACACACTGGTGCAAAGGGATCGTATGATATACGATGGA c.480
I M A E L R L Y T L V Q R D R M I Y D G p.160
. . . . . . g.10152
GTAGACCGGAAAATTACCATTTTTGAAGTGCTGGAGAGCAAAGGGGATAATGAGGGAGAA c.540
V D R K I T I F E V L E S K G D N E G E p.180
. . . . . . g.10212
AGAAACATGCTGGTCTTGGTGTCTGGGGAGATATATGGAACCAACAGTGAGTGGGAGACT c.600
R N M L V L V S G E I Y G T N S E W E T p.200
. . . . . . g.10272
TTTGATGTCACAGATGCCATCAGACGTTGGCAAAAGTCAGGCTCATCCACCCACCAGCTG c.660
F D V T D A I R R W Q K S G S S T H Q L p.220
. . . . . . g.10332
GAGGTCCACATTGAGAGCAAACACGATGAAGCTGAGGATGCCAGCAGTGGACGGCTAGAA c.720
E V H I E S K H D E A E D A S S G R L E p.240
. . . . . . g.10392
ATAGATACCAGTGCCCAGAATAAGCATAACCCTTTGCTCATCGTGTTTTCTGATGACCAA c.780
I D T S A Q N K H N P L L I V F S D D Q p.260
. . . . . . g.10452
AGCAGTGACAAGGAGAGGAAGGAGGAACTGAATGAAATGATTTCCCATGAGCAACTTCCA c.840
S S D K E R K E E L N E M I S H E Q L P p.280
. . . . . . g.10512
GAGCTGGACAACTTGGGCCTGGATAGCTTTTCCAGTGGACCTGGGGAAGAGGCTTTGTTG c.900
E L D N L G L D S F S S G P G E E A L L p.300
. . . . . . g.10572
CAGATGAGATCAAACATCATCTATGACTCCACTGCCCGAATCAGAAGGAACGCCAAAGGA c.960
Q M R S N I I Y D S T A R I R R N A K G p.320
. . . . . . g.10632
AACTACTGTAAGAGGACCCCGCTCTACATCGACTTCAAGGAGATTGGGTGGGACTCCTGG c.1020
N Y C K R T P L Y I D F K E I G W D S W p.340
. . . . . . g.10692
ATCATCGCTCCGCCTGGATACGAAGCCTATGAATGCCGTGGTGTTTGTAACTACCCCCTG c.1080
I I A P P G Y E A Y E C R G V C N Y P L p.360
. . . . . . g.10752
GCAGAGCATCTCACACCCACAAAGCATGCAATTATCCAGGCCTTGGTCCACCTCAAGAAT c.1140
A E H L T P T K H A I I Q A L V H L K N p.380
. . . . . . g.10812
TCCCAGAAAGCTTCCAAAGCCTGCTGTGTGCCCACAAAGCTAGAGCCCATCTCCATCCTC c.1200
S Q K A S K A C C V P T K L E P I S I L p.400
. . . . . . g.10872
TATTTAGACAAAGGCGTCGTCACCTACAAGTTTAAATACGAAGGCATGGCCGTCTCCGAA c.1260
Y L D K G V V T Y K F K Y E G M A V S E p.420
. g.10887
TGTGGCTGTAGATAG c.1275
C G C R X p.424
. . . . . . g.10947
aagaagagtcctatggcttatttaataactgtaaatgtgtatatttggtgttcctattta c.*60
. . . . . . g.11007
atgagattatttaataagggtgtacagtaatagaggcttgctgccttcaggaaatggaca c.*120
. . . g.11037
ggtcagtttgttgtaggaaatgcatatttt c.*150
(downstream sequence)
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