(used for variant description)
(last modified November 26, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_000527.4 in the LDLR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009060.1, covering LDLR transcript NM_000527.4.
(upstream sequence)
g.5007
ctcttgc c.-181
. . . . . . g.5067
agtgaggtgaagacatttgaaaatcaccccactgcaaactcctccccctgctagaaacct c.-121
. . . . . . g.5127
cacattgaaatgctgtaaatgacgtgggccccgagtgcaatcgcgggaagccagggtttc c.-61
. . . . . . g.5187
cagctaggacacagcaggtcgtgatccgggtcgggacactgcctggcagaggctgcgagc c.-1
. . . . . . g.5247
ATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCGGGG c.60
M G P W G W K L R W T V A L L L A A A G p.20
| 02. . . . . . g.15914
ACTGCAG | TGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATC c.120
T A V | G D R C E R N E F Q C Q D G K C I p.40
. . . . . . g.15974
TCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAG c.180
S Y K W V C D G S A E C Q D G S D E S Q p.60
. | 03 . . . . . g.18352
GAGACGTGCT | TGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAAC c.240
E T C L | S V T C K S G D F S C G G R V N p.80
. . . . . . g.18412
CGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGAC c.300
R C I P Q F W R C D G Q V D C D N G S D p.100
. | 04 . . . . . g.20905
GAGCAAGGCTGTC | CCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAG c.360
E Q G C P | P K T C S Q D E F R C H D G K p.120
. . . . . . g.20965
TGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAG c.420
C I S R Q F V C D S D R D C L D G S D E p.140
. . . . . . g.21025
GCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGC c.480
A S C P V L T C G P A S F Q C N S S T C p.160
. . . . . . g.21085
ATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGG c.540
I P Q L W A C D N D P D C E D G S D E W p.180
. . . . . . g.21145
CCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTC c.600
P Q R C R G L Y V F Q G D S S P C S A F p.200
. . . . . . g.21205
GAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCC c.660
E F H C L S G E C I H S S W R C D G G P p.220
. . . | 05 . . . g.22229
GACTGCAAGGACAAATCTGACGAGGAAAACTGCG | CTGTGGCCACCTGTCGCCCTGACGAA c.720
D C K D K S D E E N C A | V A T C R P D E p.240
. . . . . . g.22289
TTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGAC c.780
F Q C S D G N C I H G S R Q C D R E Y D p.260
. . . | 06. . . g.23053
TGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATG | TGACACTCTGCGAGGGACCCAAC c.840
C K D M S D E V G C V N V | T L C E G P N p.280
. . . . . . g.23113
AAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGA c.900
K F K C H S G E C I T L D K V C N M A R p.300
. . . . | 07 . . g.26310
GACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCG | GGACCAACGAATGCTTGGAC c.960
D C R D W S D E P I K E C G | T N E C L D p.320
. . . . . . g.26370
AACAACGGCGGCTGTTCCCACGTCTGCAATGACCTTAAGATCGGCTACGAGTGCCTGTGC c.1020
N N G G C S H V C N D L K I G Y E C L C p.340
. . . . | 08 . . g.27172
CCCGACGGCTTCCAGCTGGTGGCCCAGCGAAGATGCGAAG | ATATCGATGAGTGTCAGGAT c.1080
P D G F Q L V A Q R R C E D | I D E C Q D p.360
. . . . . . g.27232
CCCGACACCTGCAGCCAGCTCTGCGTGAACCTGGAGGGTGGCTACAAGTGCCAGTGTGAG c.1140
P D T C S Q L C V N L E G G Y K C Q C E p.380
. . . . | 09 . . g.28930
GAAGGCTTCCAGCTGGACCCCCACACGAAGGCCTGCAAGGCTGTGG | GCTCCATCGCCTAC c.1200
E G F Q L D P H T K A C K A V G | S I A Y p.400
. . . . . . g.28990
CTCTTCTTCACCAACCGGCACGAGGTCAGGAAGATGACGCTGGACCGGAGCGAGTACACC c.1260
L F F T N R H E V R K M T L D R S E Y T p.420
. . . . . . g.29050
AGCCTCATCCCCAACCTGAGGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGA c.1320
S L I P N L R N V V A L D T E V A S N R p.440
. . . | 10 . . g.29195
ATCTACTGGTCTGACCTGTCCCAGAGAATGATCTGCAG | CACCCAGCTTGACAGAGCCCAC c.1380
I Y W S D L S Q R M I C S | T Q L D R A H p.460
. . . . . . g.29255
GGCGTCTCTTCCTATGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGCTGGCT c.1440
G V S S Y D T V I S R D I Q A P D G L A p.480
. . . . . . g.29315
GTGGACTGGATCCACAGCAACATCTACTGGACCGACTCTGTCCTGGGCACTGTCTCTGTT c.1500
V D W I H S N I Y W T D S V L G T V S V p.500
. . . . . . g.29375
GCGGATACCAAGGGCGTGAAGAGGAAAACGTTATTCAGGGAGAACGGCTCCAAGCCAAGG c.1560
A D T K G V K R K T L F R E N G S K P R p.520
. . | 11 . . . . g.31766
GCCATCGTGGTGGATCCTGTTCATGG | CTTCATGTACTGGACTGACTGGGGAACTCCCGCC c.1620
A I V V D P V H G | F M Y W T D W G T P A p.540
. . . . . . g.31826
AAGATCAAGAAAGGGGGCCTGAATGGTGTGGACATCTACTCGCTGGTGACTGAAAACATT c.1680
K I K K G G L N G V D I Y S L V T E N I p.560
. . | 12 . . . . g.32532
CAGTGGCCCAATGGCATCACCCTAG | ATCTCCTCAGTGGCCGCCTCTACTGGGTTGACTCC c.1740
Q W P N G I T L D | L L S G R L Y W V D S p.580
. . . . . . g.32592
AAACTTCACTCCATCTCAAGCATCGATGTCAACGGGGGCAACCGGAAGACCATCTTGGAG c.1800
K L H S I S S I D V N G G N R K T I L E p.600
. . . . | 13 . . g.35745
GATGAAAAGAGGCTGGCCCACCCCTTCTCCTTGGCCGTCTTTGAG | GACAAAGTATTTTGG c.1860
D E K R L A H P F S L A V F E | D K V F W p.620
. . . . . . g.35805
ACAGATATCATCAACGAAGCCATTTTCAGTGCCAACCGCCTCACAGGTTCCGATGTCAAC c.1920
T D I I N E A I F S A N R L T G S D V N p.640
. . . . . . g.35865
TTGTTGGCTGAAAACCTACTGTCCCCAGAGGATATGGTTCTCTTCCACAACCTCACCCAG c.1980
L L A E N L L S P E D M V L F H N L T Q p.660
| 14. . . . . . g.36061
CCAAGAG | GAGTGAACTGGTGTGAGAGGACCACCCTGAGCAATGGCGGCTGCCAGTATCTG c.2040
P R G | V N W C E R T T L S N G G C Q Y L p.680
. . . . . . g.36121
TGCCTCCCTGCCCCGCAGATCAACCCCCACTCGCCCAAGTTTACCTGCGCCTGCCCGGAC c.2100
C L P A P Q I N P H S P K F T C A C P D p.700
. . . . | 15 . . g.38832
GGCATGCTGCTGGCCAGGGACATGAGGAGCTGCCTCACAG | AGGCTGAGGCTGCAGTGGCC c.2160
G M L L A R D M R S C L T E | A E A A V A p.720
. . . . . . g.38892
ACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCAC c.2220
T Q E T S T V R L K V S S T A V R T Q H p.740
. . . . . . g.38952
ACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACC c.2280
T T T R P V P D T S R L P G A T P G L T p.760
. . . | 16 . . . g.43675
ACGGTGGAGATAGTGACAATGTCTCACCAAG | CTCTGGGCGACGTTGCTGGCAGAGGAAAT c.2340
T V E I V T M S H Q A | L G D V A G R G N p.780
. . . . | 17 . g.45162
GAGAAGAAGCCCAGTAGCGTGAGGGCTCTGTCCATTGTCCTCCCCATCG | TGCTCCTCGTC c.2400
E K K P S S V R A L S I V L P I V | L L V p.800
. . . . . . g.45222
TTCCTTTGCCTGGGGGTCTTCCTTCTATGGAAGAACTGGCGGCTTAAGAACATCAACAGC c.2460
F L C L G V F L L W K N W R L K N I N S p.820
. . . . . . g.45282
ATCAACTTTGACAACCCCGTCTATCAGAAGACCACAGAGGATGAGGTCCACATTTGCCAC c.2520
I N F D N P V Y Q K T T E D E V H I C H p.840
. . | 18. . . . g.46952
AACCAGGACGGCTACAGCTACCCCTCG | AGACAGATGGTCAGTCTGGAGGATGACGTGGCG c.2580
N Q D G Y S Y P S | R Q M V S L E D D V A p.860
g.46955
TGA c.2583
X p.860
. . . . . . g.47015
acatctgcctggagtcccgtccctgcccagaacccttcctgagacctcgccggccttgtt c.*60
. . . . . . g.47075
ttattcaaagacagagaagaccaaagcattgcctgccagagctttgttttatatatttat c.*120
. . . . . . g.47135
tcatctgggaggcagaacaggcttcggacagtgcccatgcaatggcttgggttgggattt c.*180
. . . . . . g.47195
tggtttcttcctttcctcgtgaaggataagagaaacaggcccggggggaccaggatgaca c.*240
. . . . . . g.47255
cctccatttctctccaggaagttttgagtttctctccaccgtgacacaatcctcaaacat c.*300
. . . . . . g.47315
ggaagatgaaaggggaggggatgtcaggcccagagaagcaagtggctttcaacacacaac c.*360
. . . . . . g.47375
agcagatggcaccaacgggaccccctggccctgcctcatccaccaatctctaagccaaac c.*420
. . . . . . g.47435
ccctaaactcaggagtcaacgtgtttacctcttctatgcaagccttgctagacagccagg c.*480
. . . . . . g.47495
ttagcctttgccctgtcacccccgaatcatgacccacccagtgtctttcgaggtgggttt c.*540
. . . . . . g.47555
gtaccttccttaagccaggaaagggattcatggcgtcggaaatgatctggctgaatccgt c.*600
. . . . . . g.47615
ggtggcaccgagaccaaactcattcaccaaatgatgccacttcccagaggcagagcctga c.*660
. . . . . . g.47675
gtcactggtcacccttaatatttattaagtgcctgagacacccggttaccttggccgtga c.*720
. . . . . . g.47735
ggacacgtggcctgcacccaggtgtggctgtcaggacaccagcctggtgcccatcctccc c.*780
. . . . . . g.47795
gacccctacccacttccattcccgtggtctccttgcactttctcagttcagagttgtaca c.*840
. . . . . . g.47855
ctgtgtacatttggcatttgtgttattattttgcactgttttctgtcgtgtgtgttggga c.*900
. . . . . . g.47915
tgggatcccaggccagggaaagcccgtgtcaatgaatgccggggacagagaggggcaggt c.*960
. . . . . . g.47975
tgaccgggacttcaaagccgtgatcgtgaatatcgagaactgccattgtcgtctttatgt c.*1020
. . . . . . g.48035
ccgcccacctagtgcttccacttctatgcaaatgcctccaagccattcacttccccaatc c.*1080
. . . . . . g.48095
ttgtcgttgatgggtatgtgtttaaaacatgcacggtgaggccgggcgcagtggctcacg c.*1140
. . . . . . g.48155
cctgtaatcccagcactttgggaggccgaggcgggtggatcatgaggtcaggagatcgag c.*1200
. . . . . . g.48215
accatcctggctaacacgtgaaaccccgtctctactaaaaatacaaaaaattagccgggc c.*1260
. . . . . . g.48275
gtggtggcgggcacctgtagtcccagctactcgggaggctgaggcaggagaatggtgtga c.*1320
. . . . . . g.48335
acccgggaagcggagcttgcagtgagccgagattgcgccactgcagtccgcagtctggcc c.*1380
. . . . . . g.48395
tgggcgacagagcgagactccgtctcaaaaaaaaaaaacaaaaaaaaaccatgcatggtg c.*1440
. . . . . . g.48455
catcagcagcccatggcctctggccaggcatggcgaggctgaggtgggaggatggtttga c.*1500
. . . . . . g.48515
gctcaggcatttgaggctgtcgtgagctatgattatgccactgctttccagcctgggcaa c.*1560
. . . . . . g.48575
catagtaagaccccatctcttaaaaaatgaatttggccagacacaggtgcctcacgcctg c.*1620
. . . . . . g.48635
taatcccagcactttgggaggctgagctggatcacttgagttcaggagttggagaccagg c.*1680
. . . . . . g.48695
cctgagcaacaaagcgagatcccatctctacaaaaaccaaaaagttaaaaatcagctggg c.*1740
. . . . . . g.48755
tacggtggcacgtgcctgtgatcccagctacttgggaggctgaggcaggaggatcgcctg c.*1800
. . . . . . g.48815
agcccaggaggtggaggttgcagtgagccatgatcgagccactgcactccagcctgggca c.*1860
. . . . . . g.48875
acagatgaagaccctatttcagaaatacaactataaaaaaataaataaatcctccagtct c.*1920
. . . . . . g.48935
ggatcgtttgacgggacttcaggttctttctgaaatcgccgtgttactgttgcactgatg c.*1980
. . . . . . g.48995
tccggagagacagtgacagcctccgtcagactcccgcgtgaagatgtcacaagggattgg c.*2040
. . . . . . g.49055
caattgtccccagggacaaaacactgtgtcccccccagtgcagggaaccgtgataagcct c.*2100
. . . . . . g.49115
ttctggtttcggagcacgtaaatgcgtccctgtacagatagtggggattttttgttatgt c.*2160
. . . . . . g.49175
ttgcactttgtatattggttgaaactgttatcacttatatatatatatatacacacatat c.*2220
. . . . . . g.49235
atataaaatctatttatttttgcaaaccctggttgctgtatttgttcagtgactattctc c.*2280
. . . . . . g.49295
ggggccctgtgtagggggttattgcctctgaaatgcctcttctttatgtacaaagattat c.*2340
. . . . . . g.49355
ttgcacgaactggactgtgtgcaacgctttttgggagaatgatgtccccgttgtatgtat c.*2400
. . . . . . g.49415
gagtggcttctgggagatgggtgtcactttttaaaccactgtatagaaggtttttgtagc c.*2460
. . . . . g.49469
ctgaatgtcttactgtgatcaattaaatttcttaaatgaaccaatttgtctaaa c.*2514
(downstream sequence)
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