(used for variant description)
(last modified May 16, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_013437.4 in the LRP12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering LRP12 transcript NM_013437.4.
(upstream sequence)
g.5007
agagcgc c.-121
. . . . . . g.5067
agggagcagccggtggctcggcggcggcggcggcggcggcggcggcgtcggcgtcgtcta c.-61
. . . . . . g.5127
cctccagcttctcctccctcctcctccgtctcctcctctctctctccatctgctgtggtt c.-1
. . . . . . g.5187
ATGGCCTGTCGCTGGAGCACAAAAGAGTCTCCGCGGTGGAGGTCTGCGTTGCTCTTGCTT c.60
M A C R W S T K E S P R W R S A L L L L p.20
. | 02 . . . . g.62102
TTCCTCGCTGGGGTGTACG | GAAATGGTGCTCTTGCAGAACATTCTGAAAATGTGCATATT c.120
F L A G V Y G | N G A L A E H S E N V H I p.40
. | 03 . . . . . g.84994
TCAGGAGTGTCAACTG | CTTGTGGAGAGACTCCAGAGCAAATACGAGCACCAAGTGGCATA c.180
S G V S T A | C G E T P E Q I R A P S G I p.60
. . . . . . g.85054
ATCACAAGCCCAGGCTGGCCTTCTGAATATCCTGCAAAAATCAACTGTAGCTGGTTCATA c.240
I T S P G W P S E Y P A K I N C S W F I p.80
. . . | 04 . . . g.94533
AGGGCAAACCCAGGCGAAATCATTACTATAAG | TTTTCAGGATTTTGATATTCAAGGATCC c.300
R A N P G E I I T I S | F Q D F D I Q G S p.100
. . . . . . g.94593
AGAAGGTGCAATTTGGACTGGTTGACAATAGAAACATACAAGAATATTGAAAGTTACAGA c.360
R R C N L D W L T I E T Y K N I E S Y R p.120
. . . . . . g.94653
GCTTGTGGTTCCACAATTCCACCTCCGTATATCTCTTCACAAGACCACATCTGGATTAGG c.420
A C G S T I P P P Y I S S Q D H I W I R p.140
. . . . . | 05 . g.95953
TTTCATTCGGATGACAACATCTCTAGAAAGGGTTTCAGACTGGCATATTTTTCAG | GGAAA c.480
F H S D D N I S R K G F R L A Y F S G | K p.160
. . . . . . g.96013
TCTGAGGAACCAAATTGTGCTTGTGATCAGTTTCGTTGTGGTAATGGAAAGTGTATACCA c.540
S E E P N C A C D Q F R C G N G K C I P p.180
. . . . . . g.96073
GAAGCCTGGAAATGTAATAACATGGATGAATGTGGAGATAGTTCCGATGAAGAGATCTGT c.600
E A W K C N N M D E C G D S S D E E I C p.200
. . . . . . g.96133
GCCAAAGAAGCAAATCCTCCAACTGCTGCTGCTTTTCAACCCTGTGCTTACAACCAGTTC c.660
A K E A N P P T A A A F Q P C A Y N Q F p.220
. . . . . . g.96193
CAGTGTTTATCCCGTTTTACCAAAGTTTACACTTGCCTCCCCGAATCTTTAAAATGTGAT c.720
Q C L S R F T K V Y T C L P E S L K C D p.240
. . . . . . g.96253
GGGAACATTGACTGCCTTGACCTAGGAGATGAGATAGACTGTGATGTGCCAACATGTGGG c.780
G N I D C L D L G D E I D C D V P T C G p.260
. . . . . . g.96313
CAATGGCTAAAATATTTTTATGGTACTTTTAATTCTCCCAATTATCCAGACTTTTATCCT c.840
Q W L K Y F Y G T F N S P N Y P D F Y P p.280
. . . . . . g.96373
CCTGGAAGCAATTGCACCTGGTTAATAGACACTGGTGATCACCGTAAAGTCATTTTACGC c.900
P G S N C T W L I D T G D H R K V I L R p.300
. . . . . . g.96433
TTCACTGACTTTAAACTTGATGGTACTGGTTATGGTGATTATGTCAAAATATATGATGGA c.960
F T D F K L D G T G Y G D Y V K I Y D G p.320
. . . . . . g.96493
TTAGAGGAGAATCCACACAAGCTTTTGCGTGTGTTGACAGCTTTTGATTCTCATGCACCT c.1020
L E E N P H K L L R V L T A F D S H A P p.340
. . . . . . g.96553
CTTACAGTTGTTTCTTCTTCTGGACAGATAAGGGTACATTTTTGTGCTGATAAAGTGAAT c.1080
L T V V S S S G Q I R V H F C A D K V N p.360
. . . . . . g.96613
GCTGCAAGGGGATTTAATGCTACTTACCAAGTAGATGGGTTCTGTTTGCCATGGGAAATA c.1140
A A R G F N A T Y Q V D G F C L P W E I p.380
. . . . . . g.96673
CCCTGTGGAGGTAACTGGGGGTGTTATACTGAGCAGCAGCGTTGTGATGGGTATTGGCAT c.1200
P C G G N W G C Y T E Q Q R C D G Y W H p.400
. . . . . . g.96733
TGCCCAAATGGAAGGGATGAAACCAATTGTACCATGTGCCAGAAGGAAGAATTTCCATGT c.1260
C P N G R D E T N C T M C Q K E E F P C p.420
. . . . . . g.96793
TCCCGAAATGGTGTCTGTTATCCTCGTTCTGATCGCTGCAACTACCAGAATCATTGCCCA c.1320
S R N G V C Y P R S D R C N Y Q N H C P p.440
. . . . . . g.96853
AATGGCTCAGATGAAAAAAACTGCTTTTTTTGCCAACCAGGAAATTTCCATTGTAAAAAC c.1380
N G S D E K N C F F C Q P G N F H C K N p.460
. . . . . . g.96913
AATCGTTGTGTGTTTGAAAGTTGGGTGTGTGATTCTCAAGATGACTGTGGTGATGGCAGC c.1440
N R C V F E S W V C D S Q D D C G D G S p.480
. . . . . . g.96973
GATGAAGAAAATTGCCCAGTAATCGTGCCTACAAGAGTCATCACTGCTGCCGTCATAGGG c.1500
D E E N C P V I V P T R V I T A A V I G p.500
. . . . . . g.97033
AGCCTCATCTGTGGCCTGTTACTCGTCATAGCATTGGGATGTACTTGTAAGCTTTATTCT c.1560
S L I C G L L L V I A L G C T C K L Y S p.520
. . | 06 . . . . g.98855
CTGAGAATGTTTGAAAGAAG | ATCATTTGAAACACAGTTGTCAAGAGTGGAAGCAGAATTG c.1620
L R M F E R R | S F E T Q L S R V E A E L p.540
. . . . . . g.98915
TTAAGAAGAGAAGCTCCTCCCTCGTATGGACAATTGATTGCTCAGGGTTTAATTCCACCA c.1680
L R R E A P P S Y G Q L I A Q G L I P P p.560
. . . | 07 . . . g.102512
GTTGAAGATTTTCCTGTTTGTTCACCTAATCAG | GCTTCTGTTTTGGAAAATCTGAGGCTA c.1740
V E D F P V C S P N Q | A S V L E N L R L p.580
. . . . . . g.102572
GCGGTACGATCTCAGCTTGGATTTACTTCAGTCAGGCTTCCTATGGCAGGCAGATCAAGC c.1800
A V R S Q L G F T S V R L P M A G R S S p.600
. . . . . . g.102632
AACATTTGGAACCGTATTTTTAATTTTGCAAGATCACGTCATTCTGGGTCATTGGCTTTG c.1860
N I W N R I F N F A R S R H S G S L A L p.620
. . . . . . g.102692
GTCTCAGCAGATGGAGATGAGGTTGTCCCTAGTCAGAGTACCAGTAGAGAACCTGAGAGA c.1920
V S A D G D E V V P S Q S T S R E P E R p.640
. . . . . . g.102752
AATCATACTCACAGAAGTTTGTTTTCCGTGGAGTCTGATGATACAGACACAGAAAATGAG c.1980
N H T H R S L F S V E S D D T D T E N E p.660
. . . . . . g.102812
AGAAGAGATATGGCAGGAGCATCTGGTGGGGTTGCAGCTCCTTTGCCTCAAAAAGTCCCT c.2040
R R D M A G A S G G V A A P L P Q K V P p.680
. . . . . . g.102872
CCCACAACGGCAGTAGAAGCGACAGTAGGAGCATGTGCAAGTTCCTCAACTCAGAGTACC c.2100
P T T A V E A T V G A C A S S S T Q S T p.700
. . . . . . g.102932
CGAGGTGGTCATGCAGATAATGGAAGGGATGTGACAAGTGTGGAACCCCCAAGTGTGAGT c.2160
R G G H A D N G R D V T S V E P P S V S p.720
. . . . . . g.102992
CCAGCACGTCACCAGCTTACAAGTGCACTCAGTCGTATGACTCAGGGGCTACGCTGGGTA c.2220
P A R H Q L T S A L S R M T Q G L R W V p.740
. . . . . . g.103052
CGTTTTACATTAGGACGATCAAGTTCCCTAAGTCAGAACCAGAGTCCTTTGAGACAACTT c.2280
R F T L G R S S S L S Q N Q S P L R Q L p.760
. . . . . . g.103112
GATAATGGGGTAAGTGGAAGAGAAGATGATGATGATGTTGAAATGCTAATTCCAATTTCT c.2340
D N G V S G R E D D D D V E M L I P I S p.780
. . . . . . g.103172
GATGGATCTTCAGACTTTGATGTGAATGACTGCTCCAGACCTCTTCTTGATCTTGCCTCA c.2400
D G S S D F D V N D C S R P L L D L A S p.800
. . . . . . g.103232
GATCAAGGACAAGGGCTTAGACAACCATATAATGCAACAAATCCTGGAGTAAGGCCAAGT c.2460
D Q G Q G L R Q P Y N A T N P G V R P S p.820
. . . . . . g.103292
AATCGAGATGGCCCCTGTGAGCGCTGTGGTATTGTCCACACTGCCCAGATACCAGACACT c.2520
N R D G P C E R C G I V H T A Q I P D T p.840
. . . . . . g.103352
TGCTTAGAAGTAACACTGAAAAACGAAACGAGTGATGATGAGGCTTTGTTACTTTGTTAG c.2580
C L E V T L K N E T S D D E A L L L C X p.859
. . . . . . g.103412
gtacgaatcacataagggagattgtatacaagttggagcaatatccatttattattttgt c.*60
. . . . . . g.103472
aactttacagttaaactagttttagtttaaaaagaaaaaatgcagggtgatttcttatta c.*120
. . . . . . g.103532
ttatatgttagcctgcatggttaaattcgacaacttgtaactctatgaacttagagttta c.*180
. . . . . . g.103592
ctattttagcagctaaaaatgcatcacatattcatattgttcaataatgtcctttcattt c.*240
. . . . . . g.103652
gtttctgattgttttcatcctgatactgtagttcactgtagaaatgtggctgctgaaact c.*300
. . . . . . g.103712
catttgattgtcatttttatctatcctatgttaaatggtttgtttttacaaaataatacc c.*360
. . . . . . g.103772
ttattttaattgaaacgtttatgcttttgccaacacatcttgtaacttaatatactagat c.*420
. . . . . . g.103832
gttaaggttgttaatgtacaaaaaaaaaacccttatactcacctgcgttttcatttgttt c.*480
. . . . . . g.103892
gacatttgtctattattggatttcattatcatatgaacttgtcagtgggaaacaaactgt c.*540
. . . . . . g.103952
ctaaaaatttttctcttacgtttaacatacaatcatgtgaaatttaggcagagttcgata c.*600
. . . . . . g.104012
aattactggcaaaaacaaaactcttttataaagattttctaatgttgactttaatactct c.*660
. . . . . . g.104072
aacatggtacaaaccaaatggtaaaatcccaagtcatttcttttttcatctctatttagc c.*720
. . . . . . g.104132
aacagaattaagtggatgaagatattctactatgcattaaatcttgaactttataaaaca c.*780
. . . . . . g.104192
tgtacaaaaattgtacaagataagttccacctggtaatgtctttccctaatacagggttg c.*840
. . . . . . g.104252
cgcttgcattggaccctagggatttgcactaaaattatatcaaggtctcagatgagctta c.*900
. . . . . . g.104312
gtgcacaagcactatcactttaaatactattatttgctaccacagcaactatatatttcc c.*960
. . . . . . g.104372
atagcttttggctgggggcgggggacatttttattacaacttgaaattgctttgctggtt c.*1020
. . . . . . g.104432
tcatatttatttgttgtatttaaaaaatacattgttgtaagagtgattttttcaatatat c.*1080
. . . . . . g.104492
tttattcctgggggggatcatgctacactctcaaaagaaaattaagaaatcattcagatc c.*1140
. . . . . . g.104552
atcccccctttttaagtagtgtgaattgcaaaacccaacatattttttttactgtcagtt c.*1200
. . . . . . g.104612
gcggtttatttattctttaactgtctgttttagtagtttaatgattatgaaaaatgtatc c.*1260
. . . . . . g.104672
tgtgtgtgatttgctatttattaaattttaagtactttgctgaatgtcattttaaagcat c.*1320
. . . . . . g.104732
gtttgaagtcttgtgtatttgtctgtgttaatgctgtcaggaggaactgactaagatgtt c.*1380
. . . . . . g.104792
ttaatatgtatcaaaaattaaaatgattttttttattgccttgaggtactttttaaatca c.*1440
g.104794
aa c.*1442
(downstream sequence)
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