(used for variant description)
(last modified March 17, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_007347.4 in the AP4E1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering AP4E1 transcript NM_007347.4.
(upstream sequence)
. . . . g.5047
aaaaaacaggaagtgcctacggaggccgggccggcagcggcggccgg c.-61
. . . . . . g.5107
gcatgaagccgggcggctacgggatcgcgggcggcggcggcatcgcgggcggcggcggcg c.-1
. . . . . . g.5167
ATGAGCGACATAGTGGAGAAGACGCTGACGGCGCTGCCGGGACTCTTTCTGCAGAACCAG c.60
M S D I V E K T L T A L P G L F L Q N Q p.20
. . . . . . g.5227
CCCGGTGGTGGGCCCGCGGCCGCCAAGGCGTCCTTCTCCTCGAGGCTGGGCAGCCTTGTC c.120
P G G G P A A A K A S F S S R L G S L V p.40
. . . | 02 . . . g.8436
CGCGGCATCACAGCCCTCACCTCCAAGCAC | GAAGAAGAAAAATTAATCCAGCAGGAACTG c.180
R G I T A L T S K H | E E E K L I Q Q E L p.60
. . . . | 03 . . g.11794
AGTAGTCTGAAAGCGACTGTTTCTGCTCCTACTACAACACTG | AAAATGATGAAGGAATGT c.240
S S L K A T V S A P T T T L | K M M K E C p.80
. . . . . . g.11854
ATGGTGAGACTTATATATTGTGAAATGCTTGGATATGATGCTTCCTTTGGCTATATTCAT c.300
M V R L I Y C E M L G Y D A S F G Y I H p.100
. . . . | 04 . . g.20273
GCAATCAAGTTAGCCCAACAAGGAAACCTCTTAGAAAAAAGAGTAG | GTTATTTGGCTGTT c.360
A I K L A Q Q G N L L E K R V G | Y L A V p.120
. . . . . . g.20333
TCCTTATTTCTACATGAAAGTCATGAATTATTGCTTCTCCTTGTGAATACAGTTGTAAAG c.420
S L F L H E S H E L L L L L V N T V V K p.140
| 05 . . . . . . g.21486
| GATCTGCAGAGCACTAACCTAGTAGAAGTGTGTATGGCACTGACTGTTGTTAGCCAGATT c.480
| D L Q S T N L V E V C M A L T V V S Q I p.160
. . . . . . g.21546
TTCCCCTGCGAAATGATTCCAGCTGTTCTTCCATTAATAGAAGATAAACTTCAACATTCT c.540
F P C E M I P A V L P L I E D K L Q H S p.180
| 06 . . . . . . g.25395
AA | GGAGATTGTACGAAGAAAAGCTGTTCTGGCATTATACAAATTCCATCTCATTGCTCCT c.600
K | E I V R R K A V L A L Y K F H L I A P p.200
. . . . . . g.25455
AATCAAGTACAACATATTCATATTAAGTTTCGGAAAGCACTTTGTGACAGAGATGTTGGG c.660
N Q V Q H I H I K F R K A L C D R D V G p.220
. . . . | 07 . . g.27151
GTCATGGCTGCCTCCTTGCATATATATCTTAGAATGATTAAG | GAGAATTCATCTGGATAT c.720
V M A A S L H I Y L R M I K | E N S S G Y p.240
. . . . . . g.27211
AAAGACTTGACTGGGAGTTTTGTAACCATTTTGAAGCAAGTAGTTGGAGGAAAGCTCCCA c.780
K D L T G S F V T I L K Q V V G G K L P p.260
. . . . . . g.27271
GTAGAATTCAATTACCACAGTGTGCCAGCACCATGGTTACAAATTCAGCTCTTGAGAATA c.840
V E F N Y H S V P A P W L Q I Q L L R I p.280
. . | 08 . . . g.30983
CTGGGACTTCTAGGAAAAGATGATCAAAG | GACAAGTGAATTAATGTATGATGTTCTTGAT c.900
L G L L G K D D Q R | T S E L M Y D V L D p.300
. . . . | 09 . . g.37787
GAATCCTTACGAAGAGCTGAGTTAAATCACAATGTCACATATG | CTATTTTGTTTGAATGT c.960
E S L R R A E L N H N V T Y A | I L F E C p.320
. . . . . . g.37847
GTGCATACAGTCTATTCTATTTATCCTAAATCGGAATTACTTGAGAAGGCTGCCAAGTGC c.1020
V H T V Y S I Y P K S E L L E K A A K C p.340
. . . . | 10 . . g.38008
ATTGGAAAATTTGTTCTGTCACCTAAAATAAATCTAAAATATTTAG | GACTGAAGGCTCTT c.1080
I G K F V L S P K I N L K Y L G | L K A L p.360
. . . . . . g.38068
ACCTATGTTATCCAACAGGATCCTACTCTGGCTCTTCAACACCAGATGACAATAATTGAA c.1140
T Y V I Q Q D P T L A L Q H Q M T I I E p.380
. . . | 11 . . . g.44372
TGTTTAGATCATCCTGATCCCATTATTAAAAGAGAG | ACTCTGGAACTTCTTTACAGAATT c.1200
C L D H P D P I I K R E | T L E L L Y R I p.400
. . . . . . g.44432
ACTAATGCACAGAATATAACAGTTATTGTCCAGAAAATGCTTGAATATTTACATCAGAGC c.1260
T N A Q N I T V I V Q K M L E Y L H Q S p.420
. . . . . | 12 . g.46158
AAAGAAGAGTATGTCATCGTCAATTTGGTCGGCAAAATAGCAGAGCTGGCTGAGAA | ATAT c.1320
K E E Y V I V N L V G K I A E L A E K | Y p.440
. . . . . . g.46218
GCTCCTGATAATGCATGGTTTATTCAGACAATGAATGCTGTGTTTTCAGTAGGAGGAGAT c.1380
A P D N A W F I Q T M N A V F S V G G D p.460
. . . . | 13 . g.46390
GTAATGCATCCTGATATTCCCAATAACTTTCTGAGACTACTAGCGGAAG | GTTTTGATGAT c.1440
V M H P D I P N N F L R L L A E G | F D D p.480
. . . . . . g.46450
GAAACAGAAGATCAGCAATTAAGACTCTATGCAGTTCAGTCTTATCTCACTTTACTGGAT c.1500
E T E D Q Q L R L Y A V Q S Y L T L L D p.500
. . . . | 14 . g.54832
ATGGAAAATGTGTTCTATCCACAGAGATTTCTTCAAGTTATGAGTTGG | GTATTAGGGGAA c.1560
M E N V F Y P Q R F L Q V M S W | V L G E p.520
. . . . . . g.54892
TATTCCTACCTCTTAGATAAGGAAACGCCAGAGGAAGTTATAGCTAAGCTCTACAAGTTA c.1620
Y S Y L L D K E T P E E V I A K L Y K L p.540
. . . . . . g.54952
CTTATGAATGACTCTGTGTCTTCAGAAACAAAAGCCTGGTTAATTGCTGCTGTGACCAAA c.1680
L M N D S V S S E T K A W L I A A V T K p.560
. . . . . . g.55012
TTGACATCTCAGGCGCACTCTTCTAATACAGTTGAGAGATTAATCCATGAATTTACCATA c.1740
L T S Q A H S S N T V E R L I H E F T I p.580
. . . . . . g.55072
TCTTTGGATACTTGTATGAGACAACATGCATTTGAATTAAAACATTTGCATGAGAATGTG c.1800
S L D T C M R Q H A F E L K H L H E N V p.600
. . . . . | 15 . g.64600
GAACTTATGAAGAGCTTGCTTCCAGTTGACAGGAGTTGTGAAGACTTGGTG | GTAGATGCT c.1860
E L M K S L L P V D R S C E D L V | V D A p.620
. . . . . . g.64660
TCTTTATCTTTTCTGGATGGTTTTGTGGCTGAAGGACTCAGTCAGGGTGCAGCGCCTTAC c.1920
S L S F L D G F V A E G L S Q G A A P Y p.640
. . . . | 16 . . g.80364
AAACCTCCCCATCAACGCCAGGAGGAAAAGCTTTCTCAGGAAAAAG | TTCTCAATTTTGAA c.1980
K P P H Q R Q E E K L S Q E K V | L N F E p.660
. . . . . . g.80424
CCATATGGACTCTCCTTTTCTTCATCTGGCTTCACTGGACGACAGTCTCCTGCTGGCATT c.2040
P Y G L S F S S S G F T G R Q S P A G I p.680
. . . . . | 17 . g.89708
TCTCTTGGTTCAGATGTATCTGGGAATAGTGCTGAGACAGGACTGAAAGA | GACAAATAGC c.2100
S L G S D V S G N S A E T G L K E | T N S p.700
. . . . . . g.89768
TTGAAGCTGGAAGGTATAAAGAAATTGTGGGGGAAAGAAGGCTATCTTCCCAAGAAGGAA c.2160
L K L E G I K K L W G K E G Y L P K K E p.720
. . . . . . g.89828
AGCAAAACTGGTGATGAAAGTGGAGCTCTGCCTGTTCCTCAAGAGAGTATAATGGAGAAT c.2220
S K T G D E S G A L P V P Q E S I M E N p.740
. . . . . . g.89888
GTAGATCAAGCTATAACTAAAAAGGATCAATCTCAAGTTCTTACCCAATCTAAAGAGGAG c.2280
V D Q A I T K K D Q S Q V L T Q S K E E p.760
. . . . . . g.89948
AAAGAAAAGCAGCTGCTGGCATCATCATTATTTGTTGGTCTAGGATCAGAAAGTACAATC c.2340
K E K Q L L A S S L F V G L G S E S T I p.780
| 18 . . . . . . g.93708
AACCTG | CTGGGAAAAGCAGATACTGTCTCTCACAAGTTCAGAAGGAAATCAAAAGTCAAA c.2400
N L | L G K A D T V S H K F R R K S K V K p.800
. . . . . . g.93768
GAAGCTAAAAGTGGCGAAACAACCAGTACTCATAATATGACCTGTTCTTCCTTTAGTTCT c.2460
E A K S G E T T S T H N M T C S S F S S p.820
. . . . . . g.93828
TTGTCAAATGTGGCATATGAAGATGATTATTATTCGAATACTTTGCACGATACAGGAGAC c.2520
L S N V A Y E D D Y Y S N T L H D T G D p.840
. . . . . . g.93888
AAGGAATTAAAGAAATTTTCTCTCACTTCAGAACTTTTGGATTCTGAGTCACTCACAGAA c.2580
K E L K K F S L T S E L L D S E S L T E p.860
. . . . . . g.93948
CTGCCCTTGGTTGAGAAATTCTCATATTGTAGTCTGTCTACACCTTCATTGTTTGCTAAT c.2640
L P L V E K F S Y C S L S T P S L F A N p.880
. . . . . . g.94008
AACAACATGGAAATTTTTCACCCTCCTCAATCTACTGCAGCCTCAGTTGCCAAGGAAAGC c.2700
N N M E I F H P P Q S T A A S V A K E S p.900
. . . . . . g.94068
TCTTTAGCTTCATCTTTTTTGGAAGAAACTACTGAATACATACACTCAAATGCTATGGAA c.2760
S L A S S F L E E T T E Y I H S N A M E p.920
. . . . . . g.94128
GTCTGTAATAATGAAACTATATCAGTGTCTTCTTATAAAATTTGGAAAGATGATTGTTTA c.2820
V C N N E T I S V S S Y K I W K D D C L p.940
. . . . . . g.94188
TTGATGGTCTGGTCAGTCACTAATAAGAGTGGTTTGGAATTGAAAAGTGCTGACTTAGAA c.2880
L M V W S V T N K S G L E L K S A D L E p.960
. . | 19 . . . . g.95436
ATTTTTCCTGCAGAAAATTTCAAG | GTGACTGAGCAACCTGGATGCTGTTTGCCTGTAATG c.2940
I F P A E N F K | V T E Q P G C C L P V M p.980
. . . . . . g.95496
GAAGCAGAAAGCACCAAAAGCTTTCAATATAGTGTGCAGATAGAAAAACCTTTTACAGAA c.3000
E A E S T K S F Q Y S V Q I E K P F T E p.1000
. . . . . . g.95556
GGAAATCTTACTGGTTTTATTAGTTATCATATGATGGATACTCATTCTGCTCAGCTGGAA c.3060
G N L T G F I S Y H M M D T H S A Q L E p.1020
. . . | 20 . . . g.97379
TTTTCTGTAAACTTATCACTATTAGATTTCATTAG | ACCATTAAAAATCTCAAGTGACGAC c.3120
F S V N L S L L D F I R | P L K I S S D D p.1040
. . . . . . g.97439
TTTGGGAAACTCTGGTTATCCTTCGCAAATGATGTGAAACAAAATGTAAAAATGTCAGAA c.3180
F G K L W L S F A N D V K Q N V K M S E p.1060
. . . . . . g.97499
TCTCAAGCTGCACTTCCTTCTGCACTAAAGACTCTGCAACAGAAACTAAGACTCCATATT c.3240
S Q A A L P S A L K T L Q Q K L R L H I p.1080
. | 21 . . . . . g.98877
ATTGAGATTATAG | GCAATGAAGGGCTATTGGCCTGTCAGCTGCTCCCATCCATCCCCTGC c.3300
I E I I G | N E G L L A C Q L L P S I P C p.1100
. . . . . . g.98937
TTACTGCATTGCCGAGTTCATGCAGATGTATTAGCCCTGTGGTTCAGATCCTCCTGTTCT c.3360
L L H C R V H A D V L A L W F R S S C S p.1120
. . . . . g.98991
ACTCTTCCTGACTATTTACTGTATCAGTGTCAAAAGGTGATGGAGGGATCCTAG c.3414
T L P D Y L L Y Q C Q K V M E G S X p.1137
. . . . . . g.99051
cagaagccctgctaaattttactccatcaagatcaatggtttacatagataaacttattt c.*60
. . . . . . g.99111
accaaagtaaaaagaactcatggtacttctaatgaaaatggggattattacaagtgtggt c.*120
. . . . . . g.99171
ttatatgttttctttgtgattcctggtcaagaaagatccccaaaactgtatccctaacct c.*180
. . . . . . g.99231
ttaactcaggattgtacagtatgtttaggtccctcaaaaagtgacctaagctaatgttat c.*240
. . . . . . g.99291
aaactgctaatgatttatatatcacttagtgtgtagagggactgaaaatatttattttgt c.*300
. . . . . . g.99351
tataaataattttatagcacgtttactctagtgctagctaatttgtaataaagccaagtc c.*360
. . . . . . g.99411
tcagttttctgcattaaatggaagggagacatgaaattgataatctcaaacttaattcat c.*420
. . . . . . g.99471
atttggctttggaatgtagtgtatggtttttggtagggaagtcaatattttcgattatgt c.*480
. . . . . . g.99531
tttgcttagatcagtgttgaactaagttggcatagcacacactaacagttgtaggagatc c.*540
. . . . . . g.99591
catgagcatgctggatattgaggggatccaatctgtgatctattttttattatagataac c.*600
. . . . . . g.99651
tgttacacataatttcagatcgtttggctgtaaaatttgtctgttttccacttggagtta c.*660
. . . . . . g.99711
ttttaaaattcaaagtaaatcactctattcttattttgaaaactcagagccattttatat c.*720
. . . . . . g.99771
agaaacaaaacccataagagcacacagtaacaaagcaaacagatacaaaaatgacttttt c.*780
. . . . . . g.99831
agttatgacaaatattttagttggttactacttaggtccttttggcaaatgaaaatttgt c.*840
. . . . . . g.99891
gattagagtataaatggcaaaactatcttttcctggcctttgaatccactagtacttaat c.*900
. . . . . . g.99951
ggatatagctgaagcagagactaagtataacatacaggttcttcagtaaaatatatcatt c.*960
. . . . . . g.100011
ttcatgttatagttatgcctgtgtggcctctgtcagaactattatcagtaaaagaggtta c.*1020
. . . . . . g.100071
agcctatatatgaatgatggaccaaaaccttgaggttgtacattaactgaaatagtattt c.*1080
. . . . . . g.100131
tataaaatcttatggtgctgtggaaaatatttattatttcaccttttctgacacttcacc c.*1140
. . . . . . g.100191
atggagactattcaggtaatacaattttaagtcattgcagttaatactctggttaattgg c.*1200
. . . . . . g.100251
tactgttaatcacccaggtcaggaattctgattttaggttatctcattaatcatggctga c.*1260
. . . . . . g.100311
taaagaagctaaggggattctccagatctaatagatttcattagtcatttgtgtcgagta c.*1320
. . . . . . g.100371
ttcctccctaaaaacaaaagcagtattttctttctcaattaatttttaagttattcatta c.*1380
. . . . . . g.100431
aaaaatatataacatcttaattttattcttttaaaaacatacagtgaagccttgctacaa c.*1440
. . . . . . g.100491
gagtcataagtgactggaatttcttgcataataggttcctccttttgaatagatcagatt c.*1500
. . . . . . g.100551
catccccaggctctcagcagtgtcatgatgaaatgagtgtgctgacttcaggggtgtggt c.*1560
. . . . . . g.100611
ggacactggtagctagccttatcagctccctccttattcctacctctgtcagcagcatgc c.*1620
. . . . . . g.100671
ctcgccccttacctaattctgctgtgactctgacagagaggaagtgccttctcactttgc c.*1680
. . . . . . g.100731
aaaggaatgcagcatgtcacaaaggaggtgctccaattttttgtgtccttacttccctat c.*1740
. . . . . . g.100791
gtttgcctagttactgaggctaggtcgagtgtgaagcaataggtgtaagatgctgagagc c.*1800
. . . . . . g.100851
acatggacagctaccagggagatctgttgcttggttacagggtgtattcatgagtggtag c.*1860
. . . . . . g.100911
ctgcagttgtcgtgagagacatgcttggcatacagagctgtctaatgggtgggagacatg c.*1920
. . . . . . g.100971
taatggtagatttagggctgggagcatgattttgggtctgcccaaaggaacatggtgtca c.*1980
. . . . . . g.101031
cttttgttctttctgacccactaaataaaaagtagtgtaacagggtttcactggaatgtt c.*2040
. . . . . . g.101091
tattagaaagtttacactttttatatttttatgattttaaaaacaaacaataatagaaaa c.*2100
. . . . . . g.101151
acagattttaaggaacttcagagcagtatatattctgtctaaactcactgaatattttaa c.*2160
. . . . . . g.101211
gttgtaaatcaggtgtccaccaacctttatttttgcattgcaggagatgtgactgtaaag c.*2220
. . . . . . g.101271
tagggagtttttttttttgagacagagtttcacccttgttgcccaggctagagtgtaatg c.*2280
. . . . . . g.101331
gtgcaatctccgctcactgcaacctctgcctcccaggttcaagcgattctcctgcctcag c.*2340
. . . . . . g.101391
cctccctagtagctgggattacaggcatgcaccaccacacccggctaatttttttatatt c.*2400
. . . . . . g.101451
tttagtagagacaaggtttctccatgttggtcaggctggtctcgaactcccgacctcagg c.*2460
. . . . . . g.101511
tgatctgcccgcctcagcctcccaaagtgctgggattacaggcgtgagccactgcgcccg c.*2520
. . . . . . g.101571
gccaaattatttttgtgggtagattcattctctttacctaatagtcataatttagtcagt c.*2580
. . . . . . g.101631
gaagggacaacatctggggtaagagctatggaggaggtgctcagctttgtgagttttgtg c.*2640
. . . . . . g.101691
ccaggcatctttgctgaaaatggagatggcagcaagtgtgaatctgggggaatataaggg c.*2700
. . . . . . g.101751
aagacagaaaagccttaagagtagacggaggaagaagggtaccagaatagtccctgtgga c.*2760
. . . . . . g.101811
ggcaggcagatcagagctcagggtttgaaagtgggcctgagtaagggtcctgctagagaa c.*2820
. . . . . . g.101871
actgcagatggaagctgagcagttaccaactgctaatgtgccaagtataccaagcacagc c.*2880
. . . . . . g.101931
atgtgtcctgtagaggagcattattttaaacaatgttctactatcatctaccaaaataat c.*2940
. . . . . . g.101991
tgtggtaaaagtgtagtattttattttttccttttatgtcagcaatattttaaaatattg c.*3000
. . . . . . g.102051
atctgtttatcttatatttttatggataaatgtagtatttgcctcatgattgtgagccac c.*3060
. . . . . . g.102111
tgagagtgcactgaacctattcacatgtctttaagatgttttgctgtgttaaaattttag c.*3120
. . . . . . g.102171
gagagaaaaatacaagtgaataattatttaataggcatttattactttattttggagttg c.*3180
. . . . . g.102229
aattctgtcatttgaaaaagttcagtaatgtaataaatacaaagtgatctgcactgtt c.*3238
(downstream sequence)
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