(used for variant description)
(last modified December 23, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_006129.4 in the BMP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029659.1, covering BMP1 transcript NM_006129.4.
(upstream sequence)
. . g.5026
gtcggagggagggagggagggagaga c.-241
. . . . . . g.5086
aagaaagagagaaaaagaaggaaagggagagggagacggctggagcccgaggacgagcgc c.-181
. . . . . . g.5146
ggagccgcggaccgagcggggggcgggagacaggaaggagggaggcgagcagagggaagg c.-121
. . . . . . g.5206
ggaagaggtcggggagcgagggcgggagcggtcgcggtcgcgatcgagcaagcaagcggg c.-61
. . . . . . g.5266
cgagaggacgccctcccctggcctccagtgcgccgcttccctcgccgccgccccgccagc c.-1
. . . . . . g.5326
ATGCCCGGCGTGGCCCGCCTGCCGCTGCTGCTCGGGCTGCTGCTGCTCCCGCGTCCCGGC c.60
M P G V A R L P L L L G L L L L P R P G p.20
. . . . . . g.5386
CGGCCGCTGGACTTGGCCGACTACACCTATGACCTGGCGGAGGAGGACGACTCGGAGCCC c.120
R P L D L A D Y T Y D L A E E D D S E P p.40
. . | 02 . . . g.13494
CTCAACTACAAAGACCCCTGCAAGGCGG | CTGCCTTTCTTGGGGACATTGCCCTGGACGAA c.180
L N Y K D P C K A A | A F L G D I A L D E p.60
. . . . . . g.13554
GAGGACCTGAGGGCCTTCCAGGTACAGCAGGCTGTGGATCTCAGACGGCACACAGCTCGT c.240
E D L R A F Q V Q Q A V D L R R H T A R p.80
. . | 03 . . . . g.16041
AAGTCCTCCATCAAAGCTGCAG | TTCCAGGAAACACTTCTACCCCCAGCTGCCAGAGCACC c.300
K S S I K A A V | P G N T S T P S C Q S T p.100
. . . . . . g.16101
AACGGGCAGCCTCAGAGGGGAGCCTGTGGGAGATGGAGAGGTAGATCCCGTAGCCGGCGG c.360
N G Q P Q R G A C G R W R G R S R S R R p.120
. . . . . . g.16161
GCGGCGACGTCCCGACCAGAGCGTGTGTGGCCCGATGGGGTCATCCCCTTTGTCATTGGG c.420
A A T S R P E R V W P D G V I P F V I G p.140
. | 04 . . . . . g.16440
GGAAACTTCACTG | GTAGCCAGAGGGCAGTCTTCCGGCAGGCCATGAGGCACTGGGAGAAG c.480
G N F T G | S Q R A V F R Q A M R H W E K p.160
. . . . . . g.16500
CACACCTGTGTCACCTTCCTGGAGCGCACTGACGAGGACAGCTATATTGTGTTCACCTAT c.540
H T C V T F L E R T D E D S Y I V F T Y p.180
. | 05 . . . . . g.16870
CGACCTTGCGG | GTGCTGCTCCTACGTGGGTCGCCGCGGCGGGGGCCCCCAGGCCATCTCC c.600
R P C G | C C S Y V G R R G G G P Q A I S p.200
. . . . . . g.16930
ATCGGCAAGAACTGTGACAAGTTCGGCATTGTGGTCCACGAGCTGGGCCACGTCGTCGGC c.660
I G K N C D K F G I V V H E L G H V V G p.220
. . . . . . g.16990
TTCTGGCACGAACACACTCGGCCAGACCGGGACCGCCACGTTTCCATCGTTCGTGAGAAC c.720
F W H E H T R P D R D R H V S I V R E N p.240
. | 06 . . . . . g.17762
ATCCAGCCAG | GGCAGGAGTATAACTTCCTGAAGATGGAGCCTCAGGAGGTGGAGTCCCTG c.780
I Q P G | Q E Y N F L K M E P Q E V E S L p.260
. . . . . | 07 . g.19569
GGGGAGACCTATGACTTCGACAGCATCATGCATTACGCTCGGAACACATTCTCCAG | GGGC c.840
G E T Y D F D S I M H Y A R N T F S R | G p.280
. . . . . . g.19629
ATCTTCCTGGATACCATTGTCCCCAAGTATGAGGTGAACGGGGTGAAACCTCCCATTGGC c.900
I F L D T I V P K Y E V N G V K P P I G p.300
. . . . . . g.19689
CAAAGGACACGGCTCAGCAAGGGGGACATTGCCCAAGCCCGCAAGCTTTACAAGTGCCCA c.960
Q R T R L S K G D I A Q A R K L Y K C P p.320
| 08 . . . . . . g.20287
G | CCTGTGGAGAGACCCTGCAAGACAGCACAGGCAACTTCTCCTCCCCTGAATACCCCAAT c.1020
A | C G E T L Q D S T G N F S S P E Y P N p.340
. . . . . | 09. g.31912
GGCTACTCTGCTCACATGCACTGCGTGTGGCGCATCTCTGTCACACCCGGGGAGAAG | ATC c.1080
G Y S A H M H C V W R I S V T P G E K | I p.360
. . . . . . g.31972
ATCCTGAACTTCACGTCCCTGGACCTGTACCGCAGCCGCCTGTGCTGGTACGACTATGTG c.1140
I L N F T S L D L Y R S R L C W Y D Y V p.380
. . . . | 10 . . g.33938
GAGGTCCGAGATGGCTTCTGGAGGAAGGCGCCCCTCCGAG | GCCGCTTCTGCGGGTCCAAA c.1200
E V R D G F W R K A P L R G | R F C G S K p.400
. . . . . . g.33998
CTCCCTGAGCCTATCGTCTCCACTGACAGCCGCCTCTGGGTTGAATTCCGCAGCAGCAGC c.1260
L P E P I V S T D S R L W V E F R S S S p.420
. . . | 11. . . g.34328
AATTGGGTTGGAAAGGGCTTCTTTGCAGTCTACGAAG | CCATCTGCGGGGGTGATGTGAAA c.1320
N W V G K G F F A V Y E A | I C G G D V K p.440
. . . . . . g.34388
AAGGACTATGGCCACATTCAATCGCCCAACTACCCAGACGATTACCGGCCCAGCAAAGTC c.1380
K D Y G H I Q S P N Y P D D Y R P S K V p.460
. . . . . . g.34448
TGCATCTGGCGGATCCAGGTGTCTGAGGGCTTCCACGTGGGCCTCACATTCCAGTCCTTT c.1440
C I W R I Q V S E G F H V G L T F Q S F p.480
| 12 . . . . . . g.34641
GAG | ATTGAGCGCCACGACAGCTGTGCCTACGACTATCTGGAGGTGCGCGACGGGCACAGT c.1500
E | I E R H D S C A Y D Y L E V R D G H S p.500
. . . . . . g.34701
GAGAGCAGCACCCTCATCGGGCGCTACTGTGGCTATGAGAAGCCTGATGACATCAAGAGC c.1560
E S S T L I G R Y C G Y E K P D D I K S p.520
. . . . . . g.34761
ACGTCCAGCCGCCTCTGGCTCAAGTTCGTCTCTGACGGGTCCATTAACAAAGCGGGCTTT c.1620
T S S R L W L K F V S D G S I N K A G F p.540
. | 13 . . . . g.35363
GCCGTCAACTTTTTCAAAG | AGGTGGACGAGTGCTCTCGGCCCAACCGCGGGGGCTGTGAG c.1680
A V N F F K E | V D E C S R P N R G G C E p.560
. . . . . . g.35423
CAGCGGTGCCTCAACACCCTGGGCAGCTACAAGTGCAGCTGTGACCCCGGGTACGAGCTG c.1740
Q R C L N T L G S Y K C S C D P G Y E L p.580
. . | 14 . . . . g.36575
GCCCCAGACAAGCGCCGCTGTGAGG | CTGCTTGTGGCGGATTCCTCACCAAGCTCAACGGC c.1800
A P D K R R C E A | A C G G F L T K L N G p.600
. . . . . . g.36635
TCCATCACCAGCCCGGGCTGGCCCAAGGAGTACCCCCCCAACAAGAACTGCATCTGGCAG c.1860
S I T S P G W P K E Y P P N K N C I W Q p.620
. . . . . . g.36695
CTGGTGGCCCCCACCCAGTACCGCATCTCCCTGCAGTTTGACTTCTTTGAGACAGAGGGC c.1920
L V A P T Q Y R I S L Q F D F F E T E G p.640
| 15 . . . . . . g.37154
AATGAT | GTGTGCAAGTACGACTTCGTGGAGGTGCGCAGTGGACTCACAGCTGACTCCAAG c.1980
N D | V C K Y D F V E V R S G L T A D S K p.660
. . . . . . g.37214
CTGCATGGCAAGTTCTGTGGTTCTGAGAAGCCCGAGGTCATCACCTCCCAGTACAACAAC c.2040
L H G K F C G S E K P E V I T S Q Y N N p.680
. . . . . . g.37274
ATGCGCGTGGAGTTCAAGTCCGACAACACCGTGTCCAAAAAGGGCTTCAAGGCCCACTTC c.2100
M R V E F K S D N T V S K K G F K A H F p.700
| 16. . . . . . g.41716
TTCTCAG | ACAAGGACGAGTGCTCCAAGGATAACGGCGGCTGCCAGCAGGACTGCGTCAAC c.2160
F S D | K D E C S K D N G G C Q Q D C V N p.720
. . . . . . g.41776
ACGTTCGGCAGTTATGAGTGCCAATGCCGCAGTGGCTTCGTCCTCCATGACAACAAGCAC c.2220
T F G S Y E C Q C R S G F V L H D N K H p.740
. | 17 . . . . . g.46761
GACTGCAAAGAAG | CCGGCTGTGACCACAAGGTGACATCCACCAGTGGTACCATCACCAGC c.2280
D C K E A | G C D H K V T S T S G T I T S p.760
. . . . . . g.46821
CCCAACTGGCCTGACAAGTATCCCAGCAAGAAGGAGTGCACGTGGGCCATCTCCAGCACC c.2340
P N W P D K Y P S K K E C T W A I S S T p.780
. . | 18 . . . . g.47202
CCCGGGCACCGGGTCAAGCTG | ACCTTCATGGAGATGGACATCGAGTCCCAGCCTGAGTGT c.2400
P G H R V K L | T F M E M D I E S Q P E C p.800
. . . . . . g.47262
GCCTACGACCACCTAGAGGTGTTCGACGGGCGAGACGCCAAGGCCCCCGTCCTCGGCCGC c.2460
A Y D H L E V F D G R D A K A P V L G R p.820
. . . . . . g.47322
TTCTGTGGGAGCAAGAAGCCCGAGCCCGTCCTGGCCACAGGCAGCCGCATGTTCCTGCGC c.2520
F C G S K K P E P V L A T G S R M F L R p.840
. . . . . | 19 . g.49310
TTCTACTCAGATAACTCGGTCCAGCGAAAGGGCTTCCAGGCCTCCCACGCCACAG | AGTGC c.2580
F Y S D N S V Q R K G F Q A S H A T E | C p.860
. . . . . . g.49370
GGGGGCCAGGTACGGGCAGACGTGAAGACCAAGGACCTTTACTCCCACGCCCAGTTTGGC c.2640
G G Q V R A D V K T K D L Y S H A Q F G p.880
. . . . . . g.49430
GACAACAACTACCCTGGGGGTGTGGACTGTGAGTGGGTCATTGTGGCCGAGGAAGGCTAC c.2700
D N N Y P G G V D C E W V I V A E E G Y p.900
. . . . . . g.49490
GGCGTGGAGCTCGTGTTCCAGACCTTTGAGGTGGAGGAGGAGACCGACTGCGGCTATGAC c.2760
G V E L V F Q T F E V E E E T D C G Y D p.920
. . . . . . g.49550
TACATGGAGCTCTTCGACGGCTACGACAGCACAGCCCCCAGGCTGGGGCGCTACTGTGGC c.2820
Y M E L F D G Y D S T A P R L G R Y C G p.940
| 20 . . . . . . g.51508
TCAGGG | CCTCCTGAGGAGGTGTACTCGGCGGGAGATTCTGTCCTGGTGAAGTTCCACTCG c.2880
S G | P P E E V Y S A G D S V L V K F H S p.960
. . . . . . g.51568
GATGACACCATCACCAAAAAAGGTTTCCACCTGCGATACACCAGCACCAAGTTCCAGGAC c.2940
D D T I T K K G F H L R Y T S T K F Q D p.980
. . g.51589
ACACTCCACAGCAGGAAGTGA c.2961
T L H S R K X p.986
. . . . . . g.51649
ccactgcctgagcaggggcggggactggagcctgctgcccttggtcgcctagactggata c.*60
. . . . . . g.51709
gtgggggtgggcggaaggcaacgcaccatccctctcccccaggccccaggacctgcaggg c.*120
. . . . . . g.51769
ccaatggcctggtgagactgtccataggaggtgggggaactggactccggcataagccac c.*180
. . . . . . g.51829
ttccccacaaacccccaccagcaaggggctggggccagggagcagagcttccacaagaca c.*240
. . . . . . g.51889
tttcgaagtcatcattcctctcttagggggccctgcctggtggcaagagggaatgtcagc c.*300
. . . . . . g.51949
aggaccccatcgccatccctgtgtctctacacgctgtattgtgtatcaccgggggcatta c.*360
. . . . . . g.52009
ttttcattgtaatgttcatttcccacccctgctccagcctcgatttggttttattttgag c.*420
. . . . . . g.52069
cccccattccaccaccccagtttcctggggcacaagtgtctgtgcatgtcccccaggagc c.*480
. . . . . . g.52129
caccgtggggagccgatggggaggggatggagaaacaagacagggcttctctcaggccca c.*540
. . . . . g.52187
gtggccggtcagccacaccagggcaccgcagccaataaaccgaaagtgttacagccaa c.*598
(downstream sequence)
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