(used for variant description)
(last modified March 5, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001127605.1 in the LIPA gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008194.1, covering LIPA transcript NM_001127605.1.
(upstream sequence)
. g.5018
ttcccggtggctggctgc c.-181
. . . . . . g.5078
tctgattggctgaacaaatagtccgagggtggtgggcatccgccctcccgacaaggcaga c.-121
. . . . . . g.5138
ccaggccccctgcaggtcccctatccgcaccccggcccctgagagctggcactgcgactc c.-61
. . . . . . | 02 g.9255
gagacagcggcccggcaggacagctccaggtgagagtgccggcgccgcggcgctgccag | a c.-1
. . . . . . g.9315
ATGAAAATGCGGTTCTTGGGGTTGGTGGTCTGTTTGGTTCTCTGGACCCTGCATTCTGAG c.60
M K M R F L G L V V C L V L W T L H S E p.20
. . . . . | 03 . g.11119
GGGTCTGGAGGGAAACTGACAGCTGTGGATCCTGAAACAAACATGAATGTG | AGTGAAATT c.120
G S G G K L T A V D P E T N M N V | S E I p.40
. . . . . . g.11179
ATCTCTTACTGGGGATTCCCTAGTGAGGAATACCTAGTTGAGACAGAAGATGGATATATT c.180
I S Y W G F P S E E Y L V E T E D G Y I p.60
. . . . | 04 . g.28516
CTGTGCCTTAACCGAATTCCTCATGGGAGGAAGAACCATTCTGACAAAG | GTCCCAAACCA c.240
L C L N R I P H G R K N H S D K G | P K P p.80
. . . . . . g.28576
GTTGTCTTCCTGCAACATGGCTTGCTGGCAGATTCTAGTAACTGGGTCACAAACCTTGCC c.300
V V F L Q H G L L A D S S N W V T N L A p.100
. . . . . . g.28636
AACAGCAGCCTGGGCTTCATTCTTGCTGATGCTGGTTTTGACGTGTGGATGGGCAACAGC c.360
N S S L G F I L A D A G F D V W M G N S p.120
. . . . . . g.28696
AGAGGAAATACCTGGTCTCGGAAACATAAGACACTCTCAGTTTCTCAGGATGAATTCTGG c.420
R G N T W S R K H K T L S V S Q D E F W p.140
| 05 . . . . . g.29951
GCTTTCAG | TTATGATGAGATGGCAAAATATGACCTACCAGCTTCCATTAACTTCATTCTG c.480
A F S | Y D E M A K Y D L P A S I N F I L p.160
. . . . . | 06 g.31677
AATAAAACTGGCCAAGAACAAGTGTATTATGTGGGTCATTCTCAAGGCACCACTATAG | GT c.540
N K T G Q E Q V Y Y V G H S Q G T T I G | p.180
. . . . . . g.31737
TTTATAGCATTTTCACAGATCCCTGAGCTGGCTAAAAGGATTAAAATGTTTTTTGCCCTG c.600
F I A F S Q I P E L A K R I K M F F A L p.200
. . . . . . g.31797
GGTCCTGTGGCTTCCGTCGCCTTCTGTACTAGCCCTATGGCCAAATTAGGACGATTACCA c.660
G P V A S V A F C T S P M A K L G R L P p.220
. | 07 . . . . . g.33118
GATCATCTCATTAAG | GACTTATTTGGAGACAAAGAATTTCTTCCCCAGAGTGCGTTTTTG c.720
D H L I K | D L F G D K E F L P Q S A F L p.240
. . . . . . g.33178
AAGTGGCTGGGTACCCACGTTTGCACTCATGTCATACTGAAGGAGCTCTGTGGAAATCTC c.780
K W L G T H V C T H V I L K E L C G N L p.260
. . . . | 08 . . g.34339
TGTTTTCTTCTGTGTGGATTTAATGAGAGAAATTTAAATATG | TCTAGAGTGGATGTATAT c.840
C F L L C G F N E R N L N M | S R V D V Y p.280
. . . . . | 09 . g.40900
ACAACACATTCTCCTGCTGGAACTTCTGTGCAAAACATGTTACACTGGAGCCAG | GCTGTT c.900
T T H S P A G T S V Q N M L H W S Q | A V p.300
. . . . . . g.40960
AAATTCCAAAAGTTTCAAGCCTTTGACTGGGGAAGCAGTGCCAAGAATTATTTTCATTAC c.960
K F Q K F Q A F D W G S S A K N Y F H Y p.320
| 10 . . . . . . g.41896
AACCAG | AGTTATCCTCCCACATACAATGTGAAGGACATGCTTGTGCCGACTGCAGTCTGG c.1020
N Q | S Y P P T Y N V K D M L V P T A V W p.340
. . . . . . g.41956
AGCGGGGGTCACGACTGGCTTGCAGATGTCTACGACGTCAATATCTTACTGACTCAGATC c.1080
S G G H D W L A D V Y D V N I L L T Q I p.360
. . . . . . g.42016
ACCAACTTGGTGTTCCATGAGAGCATTCCGGAATGGGAGCATCTTGACTTCATTTGGGGC c.1140
T N L V F H E S I P E W E H L D F I W G p.380
. . . . . . g.42076
CTGGATGCCCCTTGGAGGCTTTATAATAAAATTATTAATCTAATGAGGAAATATCAGTGA c.1200
L D A P W R L Y N K I I N L M R K Y Q X p.399
. . . . . . g.42136
aagctggacttgagctgtgtaccaccaagtcaatgattatgtcatgtgaaaatgtgtttg c.*60
. . . . . . g.42196
cttcatttctgtaaaacacttgtttttctttcccaggtcttttgtttttttatatccaag c.*120
. . . . . . g.42256
aaaatgataactttgaagatgcccagttcactctagtttcaattagaaacatactagcta c.*180
. . . . . . g.42316
ttttttctttaattagggctggaataggaagccagtgtctcaaccatagtattgtctctt c.*240
. . . . . . g.42376
taagtcttttaaatatcactgatgtgtaaaaaggtcattatatccattctgtttttaaaa c.*300
. . . . . . g.42436
tttaaaatatattgactttttgcccttcataggacaaagtaatatatgtgttggaatttt c.*360
. . . . . . g.42496
aaaattgtgttgtcattggtaaatctgtcactgacttaagcgaggtataaaagtacgcag c.*420
. . . . . . g.42556
ttttcatgtccttgccttaaagagctctctagtctaacggtcttgtagttagagatctaa c.*480
. . . . . . g.42616
atgacattttatcatgttttcctgcagcaggtgcatagtcaaatccagaaatatcacagc c.*540
. . . . . . g.42676
tgtgccagtaataaggatgctaacaattaattttatcaaacctaactgtgacagctgtga c.*600
. . . . . . g.42736
tttgacacgttttaattgctcaggttaaatgaaatagttttccggcgtcttcaaaaacaa c.*660
. . . . . . g.42796
attgcactgataaaacaaaaacaaaagtatgttttaaatgctttgaagactgatacactc c.*720
. . . . . . g.42856
aaccatctatattcatgagctctcaatttcatggcaggccatagttctacttatctgaga c.*780
. . . . . . g.42916
agcaaatccctgtggagactataccactattttttctgagattaatgtactcttggagcc c.*840
. . . . . . g.42976
cgctactgtcgttattgatcacatctgtgtgaagccaaagccccgtggttgcccatgaga c.*900
. . . . . . g.43036
agtgtccttgttcattttcacccaaatgaagtgtgaacgtgatgttttcggatgcaaact c.*960
. . . . . . g.43096
cagctcagggattcattttgtgtcttagttttatatgcatccttatttttaatacacctg c.*1020
. . . . . . g.43156
cttcacgtccctatgttgggaagtccatatttgtctgcttttcttgcagcatcatttcct c.*1080
. . . . . . g.43216
tacaatactgtccggtggacaaaatgacaattgatatgtttttctgatataattacttta c.*1140
. . . . . . g.43276
gctgcactaacagtacaatgcttgttaatggttaatataggcagggcgaatactactttg c.*1200
. . . . . g.43335
taacttttaaagtcttaaacttttcaataaaattgagtgagacttataggcccaaagaa c.*1259
(downstream sequence)
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