(used for variant description)
(last modified July 1, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_015627.2 in the LDLRAP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008932.1, covering LDLRAP1 transcript NM_015627.2.
(upstream sequence)
. . . . . g.5054
ggagctggcgctgggaggggaggagcgcgcagcccgcgcgccgcagggccgggc c.-61
. . . . . . g.5114
ggaaagtttttcctgacggagttttggctgcggcagcggcggcggcggccggagcgggcc c.-1
. . . . . . g.5174
ATGGACGCGCTCAAGTCGGCGGGGCGGGCGCTGATCCGGAGCCCCAGCTTGGCCAAGCAG c.60
M D A L K S A G R A L I R S P S L A K Q p.20
. . | 02 . . . g.15369
AGCTGGGGGGGCGGTGGCCGGCACCGCA | AGCTGCCTGAGAACTGGACAGACACGCGGGAG c.120
S W G G G G R H R K | L P E N W T D T R E p.40
. . . . . . g.15429
ACGCTGCTGGAGGGGATGCTGTTCAGCCTCAAGTACCTGGGCATGACGCTAGTGGAGCAG c.180
T L L E G M L F S L K Y L G M T L V E Q p.60
. . . . . | 03 . g.16284
CCCAAGGGTGAGGAGCTGTCGGCCGCCGCCATCAAGAGGATCGTGGCTACA | GCTAAGGCC c.240
P K G E E L S A A A I K R I V A T | A K A p.80
. . . . . . g.16344
AGTGGGAAGAAGCTGCAGAAGGTGACTCTGAAGGTGTCGCCACGGGGAATTATCCTGACA c.300
S G K K L Q K V T L K V S P R G I I L T p.100
. . . . | 04 . . g.18584
GACAACCTCACCAACCAGCTCATTGAGAACGTGTCCATATACAG | GATCTCCTATTGCACA c.360
D N L T N Q L I E N V S I Y R | I S Y C T p.120
. . . . . . g.18644
GCAGACAAGATGCACGACAAGGTGTTTGCATACATCGCCCAGAGCCAGCACAACCAGAGC c.420
A D K M H D K V F A Y I A Q S Q H N Q S p.140
. . . | 05 . . g.24080
CTCGAGTGCCACGCCTTCCTCTGCACCAAGCGGAAGATG | GCACAGGCTGTTACCCTCACC c.480
L E C H A F L C T K R K M | A Q A V T L T p.160
. . . . . | 06 . g.24493
GTAGCCCAGGCCTTCAAAGTCGCCTTTGAGTTTTGGCAGGTGTCCAAGGAAG | AGAAAGAG c.540
V A Q A F K V A F E F W Q V S K E E | K E p.180
. . . . . . g.24553
AAGAGGGACAAAGCCAGCCAAGAGGGAGGGGACGTCCTGGGGGCCCGCCAAGACTGCACC c.600
K R D K A S Q E G G D V L G A R Q D C T p.200
. | 07 . . . . . g.25120
CCCTCCTTGAAGAGCT | TGGTCGCCACTGGGAACCTGCTGGACTTAGAGGAGACAGCTAAG c.660
P S L K S L | V A T G N L L D L E E T A K p.220
. . . . . . g.25180
GCCCCGCTGTCCACGGTCAGCGCCAACACCACCAACATGGACGAGGTGCCGCGGCCACAA c.720
A P L S T V S A N T T N M D E V P R P Q p.240
. . | 08. . . . g.26621
GCCTTGAGTGGCAGCAGTGTTGTCTGG | GAGCTGGATGATGGCCTGGATGAAGCGTTTTCG c.780
A L S G S S V V W | E L D D G L D E A F S p.260
| 09 . . . . . . g.28321
AG | GCTTGCCCAGTCTCGGACAAACCCTCAGGTCCTGGACACTGGCCTGACAGCCCAGGAC c.840
R | L A Q S R T N P Q V L D T G L T A Q D p.280
. . . . . . g.28381
ATGCATTACGCCCAGTGCCTCTCGCCTGTCGACTGGGACAAGCCTGACAGCAGCGGCACA c.900
M H Y A Q C L S P V D W D K P D S S G T p.300
. . g.28408
GAGCAGGATGACCTCTTCAGCTTCTGA c.927
E Q D D L F S F X p.308
. . . . . . g.28468
gggcccggggccagccggacacaagcggccctgacacgtgatggaccaaagccacctgct c.*60
. . . . . . g.28528
gcgggggagccagttctggggcccgcctgccacctctcccagccctcagcattgtcagcc c.*120
. . . . . . g.28588
tgaagatcagagctgcagccagtcaggcaggggagagatttttcttttaagccctgctct c.*180
. . . . . . g.28648
ttctctgagaaccaaaagatgccttgaatatttattcagtgacttctggcttatgctcag c.*240
. . . . . . g.28708
aagccagtctgcgtcaggcacgtctcctgctgcgtgacatgtgcagtgctgtaatcggct c.*300
. . . . . . g.28768
cccgcttgctctcctggagcaagctctgccctggctgtgggtatcaggactgtgaccaaa c.*360
. . . . . . g.28828
gcatttctagtcccttctctctttctaaggacccaaatttccctgggggcatcctgcttc c.*420
. . . . . . g.28888
ctgaaagctgttggatttcagtgatttttccccccaccccccagcacaggagagcaccca c.*480
. . . . . . g.28948
cagccgcagaaggggaatgtgtcctcctgctctgcttcctcagggcccagcaggcggggg c.*540
. . . . . . g.29008
tttgagccctggaccccaggctcttagagactaaggggcagctcctgaccaaagacgata c.*600
. . . . . . g.29068
cagcttggcactttaaagcattaacagcaggtgtgaccctgagggctcctccatggtgct c.*660
. . . . . . g.29128
gcattgagtccagctttccttctgcccttcctccaggagaaggggcccaaggtccccgtg c.*720
. . . . . . g.29188
gatggtctccacctgtgcttggaaccagtgtaactggctgctccctgctcccagggactg c.*780
. . . . . . g.29248
acacggggatcatctctgtgaccgccctccgtcgggcccctgcctgccttctcccctcca c.*840
. . . . . . g.29308
cgcaaggctgtgctcttcctctggtttctgtgtgtccgtttgagtgtctgcgccccgcct c.*900
. . . . . . g.29368
ccccatacttcctgggatgatgtgtgaaacctgacacctagatttatttggaaatattct c.*960
. . . . . . g.29428
atgaccactttacagatgaggaaacaggcctcaagcgtggaggggtagagtgaagagtag c.*1020
. . . . . . g.29488
aacccaggtctgatgccaaagctgctttcttctctgcctcctcctcacgcaactcacacc c.*1080
. . . . . . g.29548
tccttttcttctagctttgttgtcctcccaggaaccaaaaaaccccagctattttctgac c.*1140
. . . . . . g.29608
caaaatgtgtttcataacaaaccatctggtgcctttccacacagaactggcaggagcctc c.*1200
. . . . . . g.29668
gtgtcctgctagctgtctctcttgttgatttccgtgaaaatgcaagtgtttgaagtctgc c.*1260
. . . . . . g.29728
tcattccgagggtgaaacaaaatccaaccctgtcagaatcatgctgttctctttgctgac c.*1320
. . . . . . g.29788
actgtgaccctgggtcgggacagaccagcagcaatctgtctttagaatcgctttccttcc c.*1380
. . . . . . g.29848
tccccttttgcccccgtggggctcccggcatcctgaaagccagcaaagcctccagcatct c.*1440
. . . . . . g.29908
tttccatcctgaggtgcctcccagtggcctggcttgtcggagcaagtttcatcagcccta c.*1500
. . . . . . g.29968
gggaaaacacggccctcctgggaacctccttacctggagtaaccggacaccttagacgga c.*1560
. . . . . . g.30028
ggtgcctgagggtggggtgggatttgcagggtcattatcagaacatgaggataacttcct c.*1620
. . . . . . g.30088
tgcccctgctctgtagccacctccttggcaccggcctctatttgtcataaggcggcgtgg c.*1680
. . . . . . g.30148
gcgaggcctgacacaggccagccttggcacgaggggggccaggggttctgagaagcgctg c.*1740
. . . . . . g.30208
ccctgtgagagccacgctggccttcgtctccatctctggttgacgggctgtccgtgtgcc c.*1800
. . . . . . g.30268
tcctgtgtgtctgcagacaagtcttgctgtgctttatttgtgaaactttaatgaggaaaa c.*1860
. . . g.30302
aacaaataataaatgttctcgttttgaaactcaa c.*1894
(downstream sequence)
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