(used for variant description)
(last modified May 21, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_002335.4 in the LRP5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.10, covering LRP5 transcript NM_002335.4.
(upstream sequence)
g.4986
gtcg c.-121
. . . . . . g.5046
tcctggtccgcggcgcccgaggggggaggcggaggcgccgggagccgcgcgaggagccgc c.-61
. . . . . . g.5106
cgccgccgcgccatggagcccgagtgagcgcggcgcgggcccgtccggccgccggacaac c.-1
. . . . . . g.5166
ATGGAGGCAGCGCCGCCCGGGCCGCCGTGGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTG c.60
M E A A P P G P P W P L L L L L L L L L p.20
. . . | 02 . . . g.40267
GCGCTGTGCGGCTGCCCGGCCCCCGCCGCGG | CCTCGCCGCTCCTGCTATTTGCCAACCGC c.120
A L C G C P A P A A A | S P L L L F A N R p.40
. . . . . . g.40327
CGGGACGTACGGCTGGTGGACGCCGGCGGAGTCAAGCTGGAGTCCACCATCGTGGTCAGC c.180
R D V R L V D A G G V K L E S T I V V S p.60
. . . . . . g.40387
GGCCTGGAGGATGCGGCCGCAGTGGACTTCCAGTTTTCCAAGGGAGCCGTGTACTGGACA c.240
G L E D A A A V D F Q F S K G A V Y W T p.80
. . . . . . g.40447
GACGTGAGCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGGGCCGCCGTGCAG c.300
D V S E E A I K Q T Y L N Q T G A A V Q p.100
. . . . . . g.40507
AACGTGGTCATCTCCGGCCTGGTCTCTCCCGACGGCCTCGCCTGCGACTGGGTGGGCAAG c.360
N V V I S G L V S P D G L A C D W V G K p.120
. . . . . . g.40567
AAGCTGTACTGGACGGACTCAGAGACCAACCGCATCGAGGTGGCCAACCTCAATGGCACA c.420
K L Y W T D S E T N R I E V A N L N G T p.140
. . . . . . g.40627
TCCCGGAAGGTGCTCTTCTGGCAGGACCTTGACCAGCCGAGGGCCATCGCCTTGGACCCC c.480
S R K V L F W Q D L D Q P R A I A L D P p.160
| 03 . . . . . g.50093
GCTCACGG | GTACATGTACTGGACAGACTGGGGTGAGACGCCCCGGATTGAGCGGGCAGGG c.540
A H G | Y M Y W T D W G E T P R I E R A G p.180
. . . . . . g.50153
ATGGATGGCAGCACCCGGAAGATCATTGTGGACTCGGACATTTACTGGCCCAATGGACTG c.600
M D G S T R K I I V D S D I Y W P N G L p.200
. . . . . . g.50213
ACCATCGACCTGGAGGAGCAGAAGCTCTACTGGGCTGACGCCAAGCTCAGCTTCATCCAC c.660
T I D L E E Q K L Y W A D A K L S F I H p.220
. . | 04 . . . . g.56172
CGTGCCAACCTGGACGGCTCGTTCCG | GCAGAAGGTGGTGGAGGGCAGCCTGACGCACCCC c.720
R A N L D G S F R | Q K V V E G S L T H P p.240
. . . . . . g.56232
TTCGCCCTGACGCTCTCCGGGGACACTCTGTACTGGACAGACTGGCAGACCCGCTCCATC c.780
F A L T L S G D T L Y W T D W Q T R S I p.260
. . . . . . g.56292
CATGCCTGCAACAAGCGCACTGGGGGGAAGAGGAAGGAGATCCTGAGTGCCCTCTACTCA c.840
H A C N K R T G G K R K E I L S A L Y S p.280
. . . . | 05 . . g.57979
CCCATGGACATCCAGGTGCTGAGCCAGGAGCGGCAGCCTTTCT | TCCACACTCGCTGTGAG c.900
P M D I Q V L S Q E R Q P F F | H T R C E p.300
. . . . . . g.58039
GAGGACAATGGCGGCTGCTCCCACCTGTGCCTGCTGTCCCCAAGCGAGCCTTTCTACACA c.960
E D N G G C S H L C L L S P S E P F Y T p.320
. . . . . | 06 . g.78712
TGCGCCTGCCCCACGGGTGTGCAGCTGCAGGACAACGGCAGGACGTGTAAGGCAG | GAGCC c.1020
C A C P T G V Q L Q D N G R T C K A G | A p.340
. . . . . . g.78772
GAGGAGGTGCTGCTGCTGGCCCGGCGGACGGACCTACGGAGGATCTCGCTGGACACGCCG c.1080
E E V L L L A R R T D L R R I S L D T P p.360
. . . . . . g.78832
GACTTCACCGACATCGTGCTGCAGGTGGACGACATCCGGCACGCCATTGCCATCGACTAC c.1140
D F T D I V L Q V D D I R H A I A I D Y p.380
. . . . . . g.78892
GACCCGCTAGAGGGCTATGTCTACTGGACAGATGACGAGGTGCGGGCCATCCGCAGGGCG c.1200
D P L E G Y V Y W T D D E V R A I R R A p.400
. . . . . . g.78952
TACCTGGACGGGTCTGGGGCGCAGACGCTGGTCAACACCGAGATCAACGACCCCGATGGC c.1260
Y L D G S G A Q T L V N T E I N D P D G p.420
. . . . . . g.79012
ATCGCGGTCGACTGGGTGGCCCGAAACCTCTACTGGACCGACACGGGCACGGACCGCATC c.1320
I A V D W V A R N L Y W T D T G T D R I p.440
. . . . . . g.79072
GAGGTGACGCGCCTCAACGGCACCTCCCGCAAGATCCTGGTGTCGGAGGACCTGGACGAG c.1380
E V T R L N G T S R K I L V S E D L D E p.460
. . . | 07 . . . g.82300
CCCCGAGCCATCGCACTGCACCCCGTGATGGG | CCTCATGTACTGGACAGACTGGGGAGAG c.1440
P R A I A L H P V M G | L M Y W T D W G E p.480
. . . . . . g.82360
AACCCTAAAATCGAGTGTGCCAACTTGGATGGGCAGGAGCGGCGTGTGCTGGTCAATGCC c.1500
N P K I E C A N L D G Q E R R V L V N A p.500
. . . . . . g.82420
TCCCTCGGGTGGCCCAACGGCCTGGCCCTGGACCTGCAGGAGGGGAAGCTCTACTGGGGA c.1560
S L G W P N G L A L D L Q E G K L Y W G p.520
. . | 08 . . . . g.95910
GACGCCAAGACAGACAAGATCGAG | GTGATCAATGTTGATGGGACGAAGAGGCGGACCCTC c.1620
D A K T D K I E | V I N V D G T K R R T L p.540
. . . . . . g.95970
CTGGAGGACAAGCTCCCGCACATTTTTGGGTTCACGCTGCTGGGGGACTTCATCTACTGG c.1680
L E D K L P H I F G F T L L G D F I Y W p.560
. . . . . . g.96030
ACTGACTGGCAGCGCCGCAGCATCGAGCGGGTGCACAAGGTCAAGGCCAGCCGGGACGTC c.1740
T D W Q R R S I E R V H K V K A S R D V p.580
. . . . . . g.96090
ATCATTGACCAGCTGCCCGACCTGATGGGGCTCAAAGCTGTGAATGTGGCCAAGGTCGTC c.1800
I I D Q L P D L M G L K A V N V A K V V p.600
| 09 . . . . . . g.98974
G | GAACCAACCCGTGTGCGGACAGGAACGGGGGGTGCAGCCACCTGTGCTTCTTCACACCC c.1860
G | T N P C A D R N G G C S H L C F F T P p.620
. . . . . . g.99034
CACGCAACCCGGTGTGGCTGCCCCATCGGCCTGGAGCTGCTGAGTGACATGAAGACCTGC c.1920
H A T R C G C P I G L E L L S D M K T C p.640
. . . . . . g.99094
ATCGTGCCTGAGGCCTTCTTGGTCTTCACCAGCAGAGCCGCCATCCACAGGATCTCCCTC c.1980
I V P E A F L V F T S R A A I H R I S L p.660
. . . . . . g.99154
GAGACCAATAACAACGACGTGGCCATCCCGCTCACGGGCGTCAAGGAGGCCTCAGCCCTG c.2040
E T N N N D V A I P L T G V K E A S A L p.680
. . . . . | 10 . g.102314
GACTTTGATGTGTCCAACAACCACATCTACTGGACAGACGTCAGCCTGAAG | ACCATCAGC c.2100
D F D V S N N H I Y W T D V S L K | T I S p.700
. . . . . . g.102374
CGCGCCTTCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGTTTGGCCTTGACTACCCC c.2160
R A F M N G S S V E H V V E F G L D Y P p.720
. . . . . . g.102434
GAGGGCATGGCCGTTGACTGGATGGGCAAGAACCTCTACTGGGCCGACACTGGGACCAAC c.2220
E G M A V D W M G K N L Y W A D T G T N p.740
. . . . . . g.102494
AGAATCGAAGTGGCGCGGCTGGACGGGCAGTTCCGGCAAGTCCTCGTGTGGAGGGACTTG c.2280
R I E V A R L D G Q F R Q V L V W R D L p.760
. . . | 11 . . g.103849
GACAACCCGAGGTCGCTGGCCCTGGATCCCACCAAGGG | CTACATCTACTGGACCGAGTGG c.2340
D N P R S L A L D P T K G | Y I Y W T E W p.780
. . . . . . g.103909
GGCGGCAAGCCGAGGATCGTGCGGGCCTTCATGGACGGGACCAACTGCATGACGCTGGTG c.2400
G G K P R I V R A F M D G T N C M T L V p.800
. . . . . . g.103969
GACAAGGTGGGCCGGGCCAACGACCTCACCATTGACTACGCTGACCAGCGCCTCTACTGG c.2460
D K V G R A N D L T I D Y A D Q R L Y W p.820
. . . . | 12 . . g.106097
ACCGACCTGGACACCAACATGATCGAGTCGTCCAACATGCTGG | GTCAGGAGCGGGTCGTG c.2520
T D L D T N M I E S S N M L G | Q E R V V p.840
. . . . . . g.106157
ATTGCCGACGATCTCCCGCACCCGTTCGGTCTGACGCAGTACAGCGATTATATCTACTGG c.2580
I A D D L P H P F G L T Q Y S D Y I Y W p.860
. . . . . . g.106217
ACAGACTGGAATCTGCACAGCATTGAGCGGGCCGACAAGACTAGCGGCCGGAACCGCACC c.2640
T D W N L H S I E R A D K T S G R N R T p.880
. . . . . . g.106277
CTCATCCAGGGCCACCTGGACTTCGTGATGGACATCCTGGTGTTCCACTCCTCCCGCCAG c.2700
L I Q G H L D F V M D I L V F H S S R Q p.900
. . . . . . g.106337
GATGGCCTCAATGACTGTATGCACAACAACGGGCAGTGTGGGCAGCTGTGCCTTGCCATC c.2760
D G L N D C M H N N G Q C G Q L C L A I p.920
. . . . . . g.106397
CCCGGCGGCCACCGCTGCGGCTGCGCCTCACACTACACCCTGGACCCCAGCAGCCGCAAC c.2820
P G G H R C G C A S H Y T L D P S S R N p.940
| 13. . . . . . g.108772
TGCAGCC | CGCCCACCACCTTCTTGCTGTTCAGCCAGAAATCTGCCATCAGTCGGATGATC c.2880
C S P | P T T F L L F S Q K S A I S R M I p.960
. . . . . . g.108832
CCGGACGACCAGCACAGCCCGGATCTCATCCTGCCCCTGCATGGACTGAGGAACGTCAAA c.2940
P D D Q H S P D L I L P L H G L R N V K p.980
. . . . . . g.108892
GCCATCGACTATGACCCACTGGACAAGTTCATCTACTGGGTGGATGGGCGCCAGAACATC c.3000
A I D Y D P L D K F I Y W V D G R Q N I p.1000
. . | 14. . . . g.115913
AAGCGAGCCAAGGACGACGGGACCCAG | CCCTTTGTTTTGACCTCTCTGAGCCAAGGCCAA c.3060
K R A K D D G T Q | P F V L T S L S Q G Q p.1020
. . . . . . g.115973
AACCCAGACAGGCAGCCCCACGACCTCAGCATCGACATCTACAGCCGGACACTGTTCTGG c.3120
N P D R Q P H D L S I D I Y S R T L F W p.1040
. . . . . . g.116033
ACGTGCGAGGCCACCAATACCATCAACGTCCACAGGCTGAGCGGGGAAGCCATGGGGGTG c.3180
T C E A T N T I N V H R L S G E A M G V p.1060
. . . . . | 15 . g.117497
GTGCTGCGTGGGGACCGCGACAAGCCCAGGGCCATCGTCGTCAACGCGGAGCGAGG | GTAC c.3240
V L R G D R D K P R A I V V N A E R G | Y p.1080
. . . . . . g.117557
CTGTACTTCACCAACATGCAGGACCGGGCAGCCAAGATCGAACGCGCAGCCCTGGACGGC c.3300
L Y F T N M Q D R A A K I E R A A L D G p.1100
. . . . . . g.117617
ACCGAGCGCGAGGTCCTCTTCACCACCGGCCTCATCCGCCCTGTGGCCCTGGTGGTGGAC c.3360
T E R E V L F T T G L I R P V A L V V D p.1120
. . . . . . g.117677
AACACACTGGGCAAGCTGTTCTGGGTGGACGCGGACCTGAAGCGCATTGAGAGCTGTGAC c.3420
N T L G K L F W V D A D L K R I E S C D p.1140
| 16. . . . . . g.118422
CTGTCAG | GGGCCAACCGCCTGACCCTGGAGGACGCCAACATCGTGCAGCCTCTGGGCCTG c.3480
L S G | A N R L T L E D A N I V Q P L G L p.1160
. . . . . . g.118482
ACCATCCTTGGCAAGCATCTCTACTGGATCGACCGCCAGCAGCAGATGATCGAGCGTGTG c.3540
T I L G K H L Y W I D R Q Q Q M I E R V p.1180
. . . . . . g.118542
GAGAAGACCACCGGGGACAAGCGGACTCGCATCCAGGGCCGTGTCGCCCACCTCACTGGC c.3600
E K T T G D K R T R I Q G R V A H L T G p.1200
. . . | 17. . . g.121989
ATCCATGCAGTGGAGGAAGTCAGCCTGGAGGAGTTCT | CAGCCCACCCATGTGCCCGTGAC c.3660
I H A V E E V S L E E F S | A H P C A R D p.1220
. . . . . . g.122049
AATGGTGGCTGCTCCCACATCTGTATTGCCAAGGGTGATGGGACACCACGGTGCTCATGC c.3720
N G G C S H I C I A K G D G T P R C S C p.1240
. . . . | 18 . . g.126010
CCAGTCCACCTCGTGCTCCTGCAGAACCTGCTGACCTGTGGAG | AGCCGCCCACCTGCTCC c.3780
P V H L V L L Q N L L T C G E | P P T C S p.1260
. . . . . . g.126070
CCGGACCAGTTTGCATGTGCCACAGGGGAGATCGACTGTATCCCCGGGGCCTGGCGCTGT c.3840
P D Q F A C A T G E I D C I P G A W R C p.1280
. . . . . . g.126130
GACGGCTTTCCCGAGTGCGATGACCAGAGCGACGAGGAGGGCTGCCCCGTGTGCTCCGCC c.3900
D G F P E C D D Q S D E E G C P V C S A p.1300
. . . . . . g.126190
GCCCAGTTCCCCTGCGCGCGGGGTCAGTGTGTGGACCTGCGCCTGCGCTGCGACGGCGAG c.3960
A Q F P C A R G Q C V D L R L R C D G E p.1320
. . . . | 19 . . g.129300
GCAGACTGTCAGGACCGCTCAGACGAGGCGGACTGTGACG | CCATCTGCCTGCCCAACCAG c.4020
A D C Q D R S D E A D C D A | I C L P N Q p.1340
. . . . . . g.129360
TTCCGGTGTGCGAGCGGCCAGTGTGTCCTCATCAAACAGCAGTGCGACTCCTTCCCCGAC c.4080
F R C A S G Q C V L I K Q Q C D S F P D p.1360
. . . | 20 . . . g.130866
TGTATCGACGGCTCCGACGAGCTCATGTGTG | AAATCACCAAGCCGCCCTCAGACGACAGC c.4140
C I D G S D E L M C E | I T K P P S D D S p.1380
. . . . . . g.130926
CCGGCCCACAGCAGTGCCATCGGGCCCGTCATTGGCATCATCCTCTCTCTCTTCGTCATG c.4200
P A H S S A I G P V I G I I L S L F V M p.1400
. . . . . . g.130986
GGTGGTGTCTATTTTGTGTGCCAGCGCGTGGTGTGCCAGCGCTATGCGGGGGCCAACGGG c.4260
G G V Y F V C Q R V V C Q R Y A G A N G p.1420
. . . . . . g.131046
CCCTTCCCGCACGAGTATGTCAGCGGGACCCCGCACGTGCCCCTCAATTTCATAGCCCCG c.4320
P F P H E Y V S G T P H V P L N F I A P p.1440
. . | 21 . . . g.132200
GGCGGTTCCCAGCATGGCCCCTTCACAG | GCATCGCATGCGGAAAGTCCATGATGAGCTCC c.4380
G G S Q H G P F T G | I A C G K S M M S S p.1460
. . . . . . g.132260
GTGAGCCTGATGGGGGGCCGGGGCGGGGTGCCCCTCTACGACCGGAACCACGTCACAGGG c.4440
V S L M G G R G G V P L Y D R N H V T G p.1480
. . . . | 22 . g.138839
GCCTCGTCCAGCAGCTCGTCCAGCACGAAGGCCACGCTGTACCCGCCG | ATCCTGAACCCG c.4500
A S S S S S S S T K A T L Y P P | I L N P p.1500
. . . . . . g.138899
CCGCCCTCCCCGGCCACGGACCCCTCCCTGTACAACATGGACATGTTCTACTCTTCAAAC c.4560
P P S P A T D P S L Y N M D M F Y S S N p.1520
. . | 23 . . . . g.141234
ATTCCGGCCACTGCGAGACCGTACAG | GCCCTACATCATTCGAGGAATGGCGCCCCCGACG c.4620
I P A T A R P Y R | P Y I I R G M A P P T p.1540
. . . . . . g.141294
ACGCCCTGCAGCACCGACGTGTGTGACAGCGACTACAGCGCCAGCCGCTGGAAGGCCAGC c.4680
T P C S T D V C D S D Y S A S R W K A S p.1560
. . . . . . g.141354
AAGTACTACCTGGATTTGAACTCGGACTCAGACCCCTATCCACCCCCACCCACGCCCCAC c.4740
K Y Y L D L N S D S D P Y P P P P T P H p.1580
. . . . . . g.141414
AGCCAGTACCTGTCGGCGGAGGACAGCTGCCCGCCCTCGCCCGCCACCGAGAGGAGCTAC c.4800
S Q Y L S A E D S C P P S P A T E R S Y p.1600
. . . . g.141462
TTCCATCTCTTCCCGCCCCCTCCGTCCCCCTGCACGGACTCATCCTGA c.4848
F H L F P P P P S P C T D S S X p.1615
. . . . . . g.141522
cctcggccgggccactctggcttctctgtgcccctgtaaatagttttaaatatgaacaaa c.*60
. . . . . . g.141582
gaaaaaaatatattttatgatttaaaaaataaatataattgggattttaaaaacatgaga c.*120
. . . . . . g.141642
aatgtgaactgtgatggggtgggcagggctgggagaactttgtacagtggagaaatattt c.*180
. . g.141667
ataaacttaattttgtaaaacagaa c.*205
(downstream sequence)
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