(used for variant description)
(last modified December 1, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000478.4 in the ALPL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008940.1, covering ALPL transcript NM_000478.4.
(upstream sequence)
. g.5017
ccgggcctcactcgggc c.-241
. . . . . . g.5077
cccgcggccgcctttataaggcggcgggggtggtggcccgggccgcgttgcgctcccgcc c.-181
. . . . . . g.5137
actccgcgcccgctatcctggctccgtgctcccacgcgcttgtgcctggacggaccctcg c.-121
. . | 02 . . . . g.49657
ccagtgctctgcgcag | gattggaacatcagttaacatctgaccactgccagcccaccccc c.-61
. . . . . . g.49717
tcccacccacgtcgattgcatctctgggctccagggataaagcaggtcttggggtgcacc c.-1
. . . . . . g.49777
ATGATTTCACCATTCTTAGTACTGGCCATTGGCACCTGCCTTACTAACTCCTTAGTGCCA c.60
M I S P F L V L A I G T C L T N S L V P p.20
| 03 . . . . . . g.56320
G | AGAAAGAGAAAGACCCCAAGTACTGGCGAGACCAAGCGCAAGAGACACTGAAATATGCC c.120
E | K E K D P K Y W R D Q A Q E T L K Y A p.40
. . . . . . g.56380
CTGGAGCTTCAGAAGCTCAACACCAACGTGGCTAAGAATGTCATCATGTTCCTGGGAGAT c.180
L E L Q K L N T N V A K N V I M F L G D p.60
| 04 . . . . . . g.56791
G | GGATGGGTGTCTCCACAGTGACGGCTGCCCGCATCCTCAAGGGTCAGCTCCACCACAAC c.240
G | M G V S T V T A A R I L K G Q L H H N p.80
. . . . . | 05. g.58748
CCTGGGGAGGAGACCAGGCTGGAGATGGACAAGTTCCCCTTCGTGGCCCTCTCCAAG | ACG c.300
P G E E T R L E M D K F P F V A L S K | T p.100
. . . . . . g.58808
TACAACACCAATGCCCAGGTCCCTGACAGTGCCGGCACCGCCACCGCCTACCTGTGTGGG c.360
Y N T N A Q V P D S A G T A T A Y L C G p.120
. . . . . . g.58868
GTGAAGGCCAATGAGGGCACCGTGGGGGTAAGCGCAGCCACTGAGCGTTCCCGGTGCAAC c.420
V K A N E G T V G V S A A T E R S R C N p.140
. . . . . | 06 . g.59684
ACCACCCAGGGGAACGAGGTCACCTCCATCCTGCGCTGGGCCAAGGACGCTG | GGAAATCT c.480
T T Q G N E V T S I L R W A K D A G | K S p.160
. . . . . . g.59744
GTGGGCATTGTGACCACCACGAGAGTGAACCATGCCACCCCCAGCGCCGCCTACGCCCAC c.540
V G I V T T T R V N H A T P S A A Y A H p.180
. . . . . . g.59804
TCGGCTGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGGCCTTGAGCCAGGGC c.600
S A D R D W Y S D N E M P P E A L S Q G p.200
. . . . | 07 . g.63751
TGTAAGGACATCGCCTACCAGCTCATGCATAACATCAGGGACATTGAC | GTGATCATGGGG c.660
C K D I A Y Q L M H N I R D I D | V I M G p.220
. . . . . . g.63811
GGTGGCCGGAAATACATGTACCCCAAGAATAAAACTGATGTGGAGTATGAGAGTGACGAG c.720
G G R K Y M Y P K N K T D V E Y E S D E p.240
. . . . . . g.63871
AAAGCCAGGGGCACGAGGCTGGACGGCCTGGACCTCGTTGACACCTGGAAGAGCTTCAAA c.780
K A R G T R L D G L D L V D T W K S F K p.260
. | 08 . . . . . g.65988
CCGAGATACAAG | CACTCCCACTTCATCTGGAACCGCACGGAACTCCTGACCCTTGACCCC c.840
P R Y K | H S H F I W N R T E L L T L D P p.280
. . | 09 . . . . g.69338
CACAATGTGGACTACCTATTGG | GTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAAC c.900
H N V D Y L L G | L F E P G D M Q Y E L N p.300
. . . . . . g.69398
AGGAACAACGTGACGGACCCGTCACTCTCCGAGATGGTGGTGGTGGCCATCCAGATCCTG c.960
R N N V T D P S L S E M V V V A I Q I L p.320
. . . | 10. . . g.71391
CGGAAGAACCCCAAAGGCTTCTTCTTGCTGGTGGAAG | GAGGCAGAATTGACCACGGGCAC c.1020
R K N P K G F F L L V E G | G R I D H G H p.340
. . . . . . g.71451
CATGAAGGAAAAGCCAAGCAGGCCCTGCATGAGGCGGTGGAGATGGACCGGGCCATCGGG c.1080
H E G K A K Q A L H E A V E M D R A I G p.360
. . . . . . g.71511
CAGGCAGGCAGCTTGACCTCCTCGGAAGACACTCTGACCGTGGTCACTGCGGACCATTCC c.1140
Q A G S L T S S E D T L T V V T A D H S p.380
. . . . | 11 . g.72168
CACGTCTTCACATTTGGTGGATACACCCCCCGTGGCAACTCTATCTTTG | GTCTGGCCCCC c.1200
H V F T F G G Y T P R G N S I F G | L A P p.400
. . . . . . g.72228
ATGCTGAGTGACACAGACAAGAAGCCCTTCACTGCCATCCTGTATGGCAATGGGCCTGGC c.1260
M L S D T D K K P F T A I L Y G N G P G p.420
. . . . | 12 . g.73029
TACAAGGTGGTGGGCGGTGAACGAGAGAATGTCTCCATGGTGGACTATG | CTCACAACAAC c.1320
Y K V V G G E R E N V S M V D Y A | H N N p.440
. . . . . . g.73089
TACCAGGCGCAGTCTGCTGTGCCCCTGCGCCACGAGACCCACGGCGGGGAGGACGTGGCC c.1380
Y Q A Q S A V P L R H E T H G G E D V A p.460
. . . . . . g.73149
GTCTTCTCCAAGGGCCCCATGGCGCACCTGCTGCACGGCGTCCACGAGCAGAACTACGTC c.1440
V F S K G P M A H L L H G V H E Q N Y V p.480
. . . . . . g.73209
CCCCACGTGATGGCGTATGCAGCCTGCATCGGGGCCAACCTCGGCCACTGTGCTCCTGCC c.1500
P H V M A Y A A C I G A N L G H C A P A p.500
. . . . . . g.73269
AGCTCGGCAGGCAGCCTTGCTGCAGGCCCCCTGCTGCTCGCGCTGGCCCTCTACCCCCTG c.1560
S S A G S L A A G P L L L A L A L Y P L p.520
. g.73284
AGCGTCCTGTTCTGA c.1575
S V L F X p.524
. . . . . . g.73344
gggcccagggcccgggcacccacaagcccgtgacagatgccaacttcccacacggcagcc c.*60
. . . . . . g.73404
cccccctcaaggggcagggaggtgggggcctcctcagcctctgcaactgcaagaaagggg c.*120
. . . . . . g.73464
acccaagaaaccaaagtctgccgcccacctcgctcccctctggaatcttccccaagggcc c.*180
. . . . . . g.73524
aaacccacttctggcctccagcctttgctccctccccgctgccctttggccaacagggta c.*240
. . . . . . g.73584
gatttctcttgggcaggcagagagtacagactgcagacattctcaaagcctcttattttt c.*300
. . . . . . g.73644
ctagcgaacgtatttctccagacccagaggccctgaagcctccgtggaacattctggatc c.*360
. . . . . . g.73704
tgaccctcccagtctcatctcctgaccctcccactcccatctccttacctctggaacccc c.*420
. . . . . . g.73764
ccaggccctacaatgctcatgtccctgtccccaggcccagccctccttcaggggagttga c.*480
. . . . . . g.73824
ggtctttctcctcaggacaaggccttgctcactcactcactccaagaccaccagggtccc c.*540
. . . . . . g.73884
aggaagccggtgcctgggtggccatcctacccagcgtggcccaggccgggaagagccacc c.*600
. . . . . . g.73944
tggcagggctcacactcctgggctctgaacacacacgccagctcctctctgaagcgactc c.*660
. . . . . . g.74004
tcctgtttggaacggcaaaaaaaaatttttttttctctttttggtggtggttaaaaggga c.*720
. . . . g.74048
acacaaaacatttaaataaaactttccaaatatttccgaggaca c.*764
(downstream sequence)
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