(used for variant description)
(last modified May 6, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_145693.2 in the LPIN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering LPIN1 transcript NM_145693.2.
(upstream sequence)
. . g.74042
gaaggcgagctgcgctgacagccgg c.-61
. . . . . . | 02 g.92963
cggcgggctgggtgtttgcaatacaaaggcggccacgcgcggcgccgctcg | gtgcagacc c.-1
. . . . . . g.93023
ATGAATTACGTGGGGCAGTTAGCCGGCCAGGTGTTTGTCACCGTGAAGGAGCTCTACAAG c.60
M N Y V G Q L A G Q V F V T V K E L Y K p.20
. . . . . . g.93083
GGGCTGAATCCCGCCACACTCTCAGGGTGCATTGACATCATTGTCATCCGCCAGCCCAAT c.120
G L N P A T L S G C I D I I V I R Q P N p.40
. . . . . . g.93143
GGAAACCTCCAATGCTCCCCTTTCCACGTCCGCTTTGGGAAGATGGGGGTCCTGCGCTCC c.180
G N L Q C S P F H V R F G K M G V L R S p.60
. | 03 . . . . . g.95232
CGAGAGAAAGTG | GTTGACATAGAAATCAATGGGGAATCTGTGGATTTGCATATGAAATTG c.240
R E K V | V D I E I N G E S V D L H M K L p.80
. . . . | 04 . g.98805
GGAGATAATGGAGAAGCATTTTTTGTTCAAGAAACAGATAATGATCAG | GAAGTTATCCCT c.300
G D N G E A F F V Q E T D N D Q | E V I P p.100
. . . . . . g.98865
ATGCACCTGGCCACCTCCCCCATCCTGTCAGAAGGAGCTTCGAGAATGGAATGCCAGCTG c.360
M H L A T S P I L S E G A S R M E C Q L p.120
. . . . . . g.98925
AAAAGGGGCTCTGTGGACAGGATGAGAGGCCTGGACCCCAGCACGCCAGCCCAAGTGATC c.420
K R G S V D R M R G L D P S T P A Q V I p.140
. . . . . . g.98985
GCTCCCAGCGAGACGCCGTCAAGCAGCTCTGTAGTAAAGAAGAGAAGAAAAAGGAGGAGA c.480
A P S E T P S S S S V V K K R R K R R R p.160
. . . . . . g.99045
AAGTCACAGCTGGACAGCCTGAAGAGAGATGACAACATGAACACATCTGAGGATGAGGAC c.540
K S Q L D S L K R D D N M N T S E D E D p.180
. . . . . | 05 . g.101045
ATGTTCCCCATCGAGATGAGCTCGGATGAGGCCATGGAGCTGCTGGAGAGCAGCAG | AACT c.600
M F P I E M S S D E A M E L L E S S R | T p.200
. . . . . . g.101105
CTTCCTAATGATATACCTCCATTCCAAGATGATATTCCTGAGGAAAACCTCTCCCTGGCT c.660
L P N D I P P F Q D D I P E E N L S L A p.220
. . . . . . g.101165
GTGATTTACCCTCAGTCAGCCTCATACCCTAATTCGGATAGAGAGTGGTCACCCACTCCC c.720
V I Y P Q S A S Y P N S D R E W S P T P p.240
| 06 . . . . . . g.106998
AG | TCCTTCCGGTTCCCGACCTTCAACACCTAAAAGTGATTCAGAATTGGTCAGCAAGTCC c.780
S | P S G S R P S T P K S D S E L V S K S p.260
. . . . . . g.107058
ACGGAAAGGACAGGGCAGAAGAACCCAGAAATGCTTTGGCTGTGGGGAGAGCTGCCGCAG c.840
T E R T G Q K N P E M L W L W G E L P Q p.280
| 07 . . . . . g.109673
GCTGCTAAG | TCTTCTTCTCCACACAAGATGAAAGAGTCCAGCCCATTGAGCAGTAGAAAA c.900
A A K | S S S P H K M K E S S P L S S R K p.300
. . . . . . g.109733
ATTTGTGATAAAAGTCACTTTCAGGCCATTCACAGCGAATCTTCAGACACTTTTAGTGAC c.960
I C D K S H F Q A I H S E S S D T F S D p.320
. . . . . . g.109793
CAATCGCCAACTCTGGTCGGTGGGGCACTTTTGGACCAGAACAAGCCTCAGACAGAAATG c.1020
Q S P T L V G G A L L D Q N K P Q T E M p.340
. . . . . . g.109853
CAGTTTGTGAATGAAGAAGACCTGGAGACCTTAGGAGCAGCAGCGCCACTCTTGCCCATG c.1080
Q F V N E E D L E T L G A A A P L L P M p.360
. . . . . . g.109913
ATCGAGGAGCTCAAACCCCCCTCTGCCAGTGTAGTCCAGACAGCAAACAAGACGGATTCT c.1140
I E E L K P P S A S V V Q T A N K T D S p.380
. | 08 . . . . . g.111294
CCTTCCAGGAAAAGAG | ATAAACGAAGCCGACATCTTGGTGCTGACGGCGTCTACTTGGAT c.1200
P S R K R D | K R S R H L G A D G V Y L D p.400
. . . . . | 09 . g.112317
GACCTCACAGACATGGATCCTGAAGTGGCGGCCCTGTATTTTCCCAAAAA | CGGAGATCCT c.1260
D L T D M D P E V A A L Y F P K N | G D P p.420
. . . . . . g.112377
TCCGGACTCGCAAAACATGCAAGCGACAACGGAGCCCGGTCAGCCAACCAGTCCCCGCAG c.1320
S G L A K H A S D N G A R S A N Q S P Q p.440
. . . . . . g.112437
TCGGTGGGCAGCTCGGGCGTGGACAGTGGCGTGGAGAGCACCTCGGACGGGCTGAGGGAC c.1380
S V G S S G V D S G V E S T S D G L R D p.460
. . . . . . g.112497
CTCCCTTCCATCGCCATCTCCCTCTGCGGGGGCCTCAGCGACCACCGGGAGATCACGAAA c.1440
L P S I A I S L C G G L S D H R E I T K p.480
| 10 . . . . . . g.114554
G | ATGCATTCCTGGAGCAAGCTGTGTCATATCAACAGTTTGTGGACAACCCCGCTATTATC c.1500
D | A F L E Q A V S Y Q Q F V D N P A I I p.500
. . . | 11 . . . g.115833
GATGACCCCAATCTCGTGGTAAAGATTGGGAGTAA | ATATTATAACTGGACAACAGCAGCA c.1560
D D P N L V V K I G S K | Y Y N W T T A A p.520
. . . . | 12 . . g.119350
CCCCTCCTCCTGGCAATGCAGGCCTTCCAGAAACCTTTGCCAAAG | GCCACTGTGGAATCT c.1620
P L L L A M Q A F Q K P L P K | A T V E S p.540
. . . . . . g.119410
ATCATGAGGGATAAAATGCCCAAAAAGGGAGGAAGATGGTGGTTTTCATGGAGGGGAAGA c.1680
I M R D K M P K K G G R W W F S W R G R p.560
. | 13 . . . . g.122871
AACACCACAATCAAGGAG | GAAAGTAAGCCAGAGCAGTGCTTGGCTGGCAAGGCCCATAGC c.1740
N T T I K E | E S K P E Q C L A G K A H S p.580
. . . | 14 . . g.130350
ACCGGAGAGCAACCGCCGCAGCTCAGCTTGGCCACCAG | GGTAAAGCATGAATCATCCTCC c.1800
T G E Q P P Q L S L A T R | V K H E S S S p.600
. . . . . . g.130410
AGTGATGAGGAGCGCGCAGCTGCCAAGCCATCAAACGCAGGCCACCTCCCTCTTCTGCCT c.1860
S D E E R A A A K P S N A G H L P L L P p.620
. . . . | 15 . . g.131859
AATGTCAGCTACAAGAAGACTCTCCGGCTGACTTCCGAGCAGCTT | AAAAGCTTGAAGTTG c.1920
N V S Y K K T L R L T S E Q L | K S L K L p.640
. . . . . . g.131919
AAGAATGGCCCCAACGACGTGGTTTTCAGTGTCACCACGCAGTACCAAGGCACGTGCCGC c.1980
K N G P N D V V F S V T T Q Y Q G T C R p.660
. . . . . . g.131979
TGTGAGGGCACCATCTATCTGTGGAACTGGGATGATAAAGTCATCATTTCTGATATTGAT c.2040
C E G T I Y L W N W D D K V I I S D I D p.680
. | 16 . . . . . g.132537
GGGACAATTACCAG | ATCAGATACTCTTGGCCACATTTTGCCCACCCTTGGGAAGGATTGG c.2100
G T I T R | S D T L G H I L P T L G K D W p.700
. . . . | 17 . . g.142528
ACCCATCAGGGCATCGCTAAGCTGTACCATAAAGTGAGCCA | GAATGGATATAAATTTCTC c.2160
T H Q G I A K L Y H K V S Q | N G Y K F L p.720
. . . . . . g.142588
TACTGTTCTGCCCGTGCCATCGGGATGGCGGACATGACGCGGGGCTACCTGCACTGGGTC c.2220
Y C S A R A I G M A D M T R G Y L H W V p.740
. . . . . . g.142648
AACGAGAGGGGCACGGTGCTGCCCCAGGGGCCCCTGCTGCTGAGTCCCAGCAGCCTCTTC c.2280
N E R G T V L P Q G P L L L S P S S L F p.760
. | 18 . . . . . g.146951
TCTGCCCTGCACAG | AGAAGTGATTGAAAAGAAGCCAGAAAAGTTTAAAGTCCAGTGTTTG c.2340
S A L H R | E V I E K K P E K F K V Q C L p.780
. . . . . . g.147011
ACAGACATCAAAAACCTGTTTTTCCCCAACACAGAACCCTTTTATGCTGCTTTTGGAAAC c.2400
T D I K N L F F P N T E P F Y A A F G N p.800
| 19 . . . . . g.147883
CGACCAGCT | GATGTGTATTCATACAAGCAAGTAGGAGTGTCTTTGAATAGAATATTTACC c.2460
R P A | D V Y S Y K Q V G V S L N R I F T p.820
. . . . . | 20 . g.152060
GTCAACCCTAAAGGAGAGCTGGTACAGGAACATGCAAAGACCAACATCTCTTC | GTATGTG c.2520
V N P K G E L V Q E H A K T N I S S | Y V p.840
. . . . . . g.152120
AGACTCTGTGAAGTAGTCGACCACGTTTTCCCGTTGCTGAAAAGAAGCCATTCTTCAGAC c.2580
R L C E V V D H V F P L L K R S H S S D p.860
. . . . . . g.152180
TTTCCCTGTTCGGATACCTTCAGTAACTTCACCTTTTGGAGAGAGCCACTGCCACCTTTT c.2640
F P C S D T F S N F T F W R E P L P P F p.880
. . . g.152213
GAAAACCAGGACATTCATTCTGCCTCAGCGTAA c.2673
E N Q D I H S A S A X p.890
. . . . . . g.152273
aatgtcccaagcagcctcttgccagcagtgcagagcctggttgtcacccattaaaggata c.*60
. . . . . . g.152333
ggtctccccggagtgcacagctccacctgggagcctggcgcgtcatcattggcctgacag c.*120
. . . . . . g.152393
cagagagaattgagaagcatttctcccctgccccaccccggggctgacatttctaagcaa c.*180
. . . . . . g.152453
gataggaagggagcactttctaggctaggagttgggtgcatttgtaccgtgaaaagcatt c.*240
. . . . . . g.152513
cctcagttgtggcttaatgccagttacgacgctgcctttccggcctgctccagcaagtag c.*300
. . . . . . g.152573
ctactggttcacgtgcagtttggggctgtgaaacctaggcagaaggcggctgtctgaggg c.*360
. . . . . . g.152633
ctgtccccgcctaggacagggtcaatcgaggaatgccagatgtgcacggtttttggcaaa c.*420
. . . . . . g.152693
gtagggggcacatttccattatagcaatgttagtgccaccaccttctgaacacagtgggg c.*480
. . . . . . g.152753
agggctgtgaaggctcatgtgacctggatctgaggtctctgatagaaatctggacgccac c.*540
. . . . . . g.152813
cgggtccaggcctggcctcagacttggccttgtggatgggccccttacagtatttgctga c.*600
. . . . . . g.152873
ctagtctcatttttaggtgataaatttttctttaattcctttggttaaagatagtctatt c.*660
. . . . . . g.152933
tcattggcatatctccccccagtttttgtggctcaaggctggaatatttatgccttaata c.*720
. . . . . . g.152993
tatctatggcagacatttaagaatgcgctttatctagctcatggtaactttgcaacgcct c.*780
. . . . . . g.153053
tagattaaaatgacagtaaatattactaaggcagtattttgaatgagtttgacactgccg c.*840
. . . . . . g.153113
gcttccttccatccagcgaggtggtgctgacagtgtggacttgagcacacttatgccaaa c.*900
. . . . . . g.153173
tgataatgatactgacttctgttgggagctctccaaagaaactggttggttttaagaaaa c.*960
. . . . . . g.153233
tagtttcaagaagttcaactatattcttttagatattatgtattgttttactctgattag c.*1020
. . . . . . g.153293
gttactgtgataggcatttattcatattctttctataccactgtcattaatatattaaaa c.*1080
. . . . . . g.153353
agatgtatgtgttagactatcgaaagggccttattctctctttctcatagactgaccttc c.*1140
. . . . . . g.153413
ttttggaatttctgagtcatttattttccttagctttttccactcaaattaagggcaagc c.*1200
. . . . . . g.153473
gaaaaagtaataatttggcattctttaagcctacagaatgtgattctttcacttgtttat c.*1260
. . . . . . g.153533
tacactggctcgtggacagaacaatttgaaaagtgaaagaattattttggtaaaagattt c.*1320
. . . . . . g.153593
tgctttacttttcgaagcattatttttttaaagagtgttttactccaacgattgaaacat c.*1380
. . . . . . g.153653
tttcctatttaaatttcattgttagaatcacaggaggcaaaaaatggaacggttgaatga c.*1440
. . . . . . g.153713
aattttactctttctgtgaaagaaaatccacagagttgttgcctccgttgtagttggtgg c.*1500
. . . . . . g.153773
gccccgttagcattggatgcctttgccaaatggttcatgtggacacacaaaggcaaacag c.*1560
. . . . . . g.153833
atctgccatcgatcgcagatttctgtagaaacacggatgtgcatgtgcagattccctttt c.*1620
. . . . . . g.153893
gcaggtattaaaaataattaaaaatagtcctgcctgaggttgcagtgagccgagcttgca c.*1680
. . . . . . g.153953
ctactgcactccagcctgggtgacagagtaagactccatgtcaaaaaaaaaaaaaaaaaa c.*1740
. . . . . . g.154013
aaaaaagtcctgccttaactaactcctctgcgcttgttcactagtaacctaaagaggcta c.*1800
. . . . . . g.154073
tattcattctttatgcaatgagggtatttttgagtgaattttaactgctctgaactaagt c.*1860
. . . . . . g.154133
ataagctcatgggcctgcaaaggttcagacggtttctcctttgcacccaggaggaacttt c.*1920
. . . . . . g.154193
ggctgcgagaatggggggatgtatccctcatgcagttggcatccaggcagccctctgcag c.*1980
. . . . . . g.154253
cagcacaccctgcaggcggagttttcagaggatgcaattttggatcccgaattttgatgt c.*2040
. . . . . . g.154313
accttaaacttccacatcactgcaccctgaaacagagcatgctttccagaaagtcacact c.*2100
. . . . . . g.154373
ctcagatctgtgtcaagttcaatgtgagccctggcaaggctggcatattaacacctgcct c.*2160
. . . . . . g.154433
tctggcttctgaaagtgagatttgtatatgggctgcactcacgcatatacgagttggttt c.*2220
. . . . . . g.154493
atctttgtgtacatgactataacccagtgatgctgaggtcatgtgctggaatgctgtatt c.*2280
. . . . . . g.154553
tggaccacacatttcaaagttgccctatggaaatgaatcctacttagtgacaagtcatca c.*2340
. . . . . . g.154613
aatgtttgtcacatgtgatgaagacaaatatgtatacctggcatagagaaaaatatatac c.*2400
. . . . . . g.154673
ctggtacattggagaaaaataattacactttcaaagagaattccctttgcaattttatgt c.*2460
. . . . . . g.154733
ttggatcaccactgtaagcacactttatttgcatttgatctgtatttgtatatgctgatg c.*2520
. . . . . . g.154793
caatgataaaaatcactgtaatacttcattgtgttgtactggatgcaaagctagaaaata c.*2580
. . . g.154831
ttgcaataaatgagaccgatgaaagacttctctgaaaa c.*2618
(downstream sequence)
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