(used for variant description)
(last modified June 11, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001030007.1 in the AP1G1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering AP1G1 transcript NM_001030007.1.
(upstream sequence)
. g.5014
gctctgccaggagc c.-301
. . . . . . g.5074
agtcgcctcctccttggcaaatagtcctcggcagggtccgagttcttggataattcgaga c.-241
. . . . . . g.5134
gaaaaggcacgataagttgcagtacgaggacacggaaacgaccaggagaggaggacaggg c.-181
. . . . . . g.5194
agcgaagtttcctcaatagtgtgtgaagttagttaaaaactccctccttcctcaggatcc c.-121
. . . . . . g.5254
ctccgcctgcggtagcggtggtgaggccgagggagccgccattttggatgttcggttcct c.-61
. . . . . . | 02 g.24594
gctgccactgctgccgccgcccccggagctgctggtttcattcgaggtttcgggccg | agg c.-1
. . . . . . g.24654
ATGCCAGCCCCCATCAGATTGCGGGAGCTGATCCGGACCATCCGGACAGCCCGAACCCAA c.60
M P A P I R L R E L I R T I R T A R T Q p.20
. . . . . . g.24714
GCTGAAGAACGAGAAATGATCCAGAAAGAATGTGCTGCAATCCGGTCATCTTTTAGAGAA c.120
A E E R E M I Q K E C A A I R S S F R E p.40
. . . . . . g.24774
GAAGACAATACATACCGATGTCGGAATGTGGCAAAATTACTGTATATGCACATGCTGGGC c.180
E D N T Y R C R N V A K L L Y M H M L G p.60
. . | 03 . . . . g.39520
TACCCTGCTCACTTTGGACAG | TTGGAGTGCCTCAAGCTTATTGCCTCTCAAAAATTTACA c.240
Y P A H F G Q | L E C L K L I A S Q K F T p.80
. . . . . . g.39580
GACAAACGCATTGGCTATTTAGGGGCAATGCTGCTGTTAGATGAAAGACAAGATGTCCAT c.300
D K R I G Y L G A M L L L D E R Q D V H p.100
. . | 04 . . . . g.40745
CTTCTCATGACCAACTGTATCAAGAA | TGATCTTAATCATAGCACGCAATTCGTACAGGGG c.360
L L M T N C I K N | D L N H S T Q F V Q G p.120
. . . . . . g.40805
TTAGCACTTTGTACCCTCGGCTGCATGGGCTCCTCAGAGATGTGCAGAGATCTTGCAGGA c.420
L A L C T L G C M G S S E M C R D L A G p.140
. . . . | 05 . g.42833
GAGGTAGAGAAGCTCCTGAAAACCTCCAACTCTTACTTAAGAAAAAAG | GCAGCACTGTGT c.480
E V E K L L K T S N S Y L R K K | A A L C p.160
. . . . . . g.42893
GCTGTTCATGTCATCAGGAAAGTTCCTGAACTTATGGAGATGTTTTTACCAGCAACAAAA c.540
A V H V I R K V P E L M E M F L P A T K p.180
. . | 06 . . . . g.44409
AATTTATTGAATGAGAAGAACCATG | GTGTCCTCCACACATCTGTAGTCCTCCTCACAGAA c.600
N L L N E K N H G | V L H T S V V L L T E p.200
. . . . | 07 . | 08 . g.48498
ATGTGTGAGCGAAGCCCAGACATGCTTGCGCATTTCAGAAAG | AATGAAAAG | CTTGTGCCC c.660
M C E R S P D M L A H F R K | N E K | L V P p.220
. . . . . . g.48558
CAATTAGTTCGTATTTTAAAGAACCTCATCATGTCCGGATATTCACCAGAACATGATGTT c.720
Q L V R I L K N L I M S G Y S P E H D V p.240
. . | 09. . . . g.49380
TCTGGTATCAGTGACCCCTTTTTGCAG | GTACGAATTTTGCGGTTATTAAGAATTTTAGGA c.780
S G I S D P F L Q | V R I L R L L R I L G p.260
. . . . | 10 . g.49637
CGAAATGATGATGATTCAAGTGAAGCTATGAATGATATATTAGCACAG | GTTGCCACTAAT c.840
R N D D D S S E A M N D I L A Q | V A T N p.280
. . . . . . g.49697
ACTGAGACTAGTAAAAATGTAGGAAATGCTATTCTTTATGAAACGGTTTTGACTATCATG c.900
T E T S K N V G N A I L Y E T V L T I M p.300
. . | 11. . . . g.52539
GATATTAAGTCAGAGAGTGGATTGCGA | GTCCTAGCCATAAATATCCTGGGTCGTTTCTTA c.960
D I K S E S G L R | V L A I N I L G R F L p.320
. . | 12 . . . . g.55189
TTGAACAATGACAAGAATATTAG | ATATGTGGCTCTGACATCTTTGTTGAAGACTGTACAG c.1020
L N N D K N I R | Y V A L T S L L K T V Q p.340
. . . . . . g.55249
ACAGATCATAATGCAGTACAGAGGCACAGAAGCACAATTGTGGACTGTCTTAAAGATTTG c.1080
T D H N A V Q R H R S T I V D C L K D L p.360
. | 13. . . . . g.57957
GATGTCTCAATAAAACG | GCGTGCAATGGAATTGAGTTTTGCCCTGGTAAATGGGAATAAT c.1140
D V S I K R | R A M E L S F A L V N G N N p.380
. . . . . . g.58017
ATCCGAGGCATGATGAAAGAATTACTTTATTTTCTGGATTCGTGTGAGCCAGAATTTAAA c.1200
I R G M M K E L L Y F L D S C E P E F K p.400
. . . | 14 . . g.60208
GCAGACTGTGCATCTGGAATCTTTCTTGCTGCAGAAAA | GTATGCACCTTCCAAACGATGG c.1260
A D C A S G I F L A A E K | Y A P S K R W p.420
. . . | 15 . . . g.63768
CATATAGACACAATTATGCGTGTTTTGACAACG | GCAGGAAGTTATGTTCGTGATGATGCA c.1320
H I D T I M R V L T T | A G S Y V R D D A p.440
. . . . . . g.63828
GTCCCCAATTTAATCCAGTTAATAACTAATAGTGTGGAGATGCATGCCTATACTGTCCAG c.1380
V P N L I Q L I T N S V E M H A Y T V Q p.460
. . . | 16 . . . g.64114
CGCCTGTACAAAGCAATTCTTGGTGATTATTCTCAA | CAACCTTTGGTACAAGTGGCTGCA c.1440
R L Y K A I L G D Y S Q | Q P L V Q V A A p.480
. . . . . . g.64174
TGGTGTATAGGTGAATATGGTGATCTTCTTGTATCTGGCCAGTGTGAAGAGGAAGAGCCT c.1500
W C I G E Y G D L L V S G Q C E E E E P p.500
| 17 . . . . . . g.65749
ATTCAG | GTAACAGAGGATGAAGTGTTGGATATTTTAGAAAGTGTCCTAATCTCTAATATG c.1560
I Q | V T E D E V L D I L E S V L I S N M p.520
. . . . . . g.65809
TCCACCTCTGTGACACGAGGTTATGCCCTCACTGCCATTATGAAGCTTTCCACTCGATTC c.1620
S T S V T R G Y A L T A I M K L S T R F p.540
. | 18 . . . . . g.67427
ACTTGTACTGTAAA | CCGAATTAAGAAAGTGGTTTCCATCTACGGAAGCAGCATTGATGTG c.1680
T C T V N | R I K K V V S I Y G S S I D V p.560
. . . . . | 19 g.68460
GAACTCCAGCAGAGGGCAGTAGAATATAATGCACTTTTCAAGAAATATGACCACATGAG | G c.1740
E L Q Q R A V E Y N A L F K K Y D H M R | p.580
. . . . . . g.68520
TCTGCCCTACTTGAGAGAATGCCTGTCATGGAAAAAGTGACCACAAATGGCCCTACTGAG c.1800
S A L L E R M P V M E K V T T N G P T E p.600
. . . . . . g.68580
ATTGTGCAGACAAATGGAGAGACAGAACCAGCTCCACTAGAGACCAAACCGCCACCCTCT c.1860
I V Q T N G E T E P A P L E T K P P P S p.620
. . | 20 . . . . g.68842
GGGCCACAGCCCACCAGCCAG | GCCAATGATTTATTGGATTTGTTGGGAGGAAATGACATA c.1920
G P Q P T S Q | A N D L L D L L G G N D I p.640
. . . . . . g.68902
ACACCTGTTATTCCAACTGCGCCTACAAGCAAACCATCTTCTGCTGGTGGAGAACTTCTT c.1980
T P V I P T A P T S K P S S A G G E L L p.660
. . | 21 . . . g.74764
GATTTGCTGGGAGACATCAACCTTACAG | GTGCTCCAGCTGCTGCTCCTGCCCCTGCCTCA c.2040
D L L G D I N L T G | A P A A A P A P A S p.680
. . . . . . g.74824
GTCCCACAGATATCCCAGCCCCCCTTCTTGTTGGATGGGCTTTCATCACAGCCTCTCTTC c.2100
V P Q I S Q P P F L L D G L S S Q P L F p.700
. | 22 . . . . . g.75015
AATGATATTGCTGCAG | GCATCCCCTCCATCACAGCATACAGTAAGAATGGCTTGAAGATA c.2160
N D I A A G | I P S I T A Y S K N G L K I p.720
. . . . . . g.75075
GAATTCACCTTTGAACGGTCAAATACCAACCCCAGTGTAACAGTGATAACGATACAGGCC c.2220
E F T F E R S N T N P S V T V I T I Q A p.740
. . . . . | 23. g.79369
TCCAACAGCACAGAGCTAGATATGACGGACTTTGTTTTCCAAGCTGCAGTACCAAAG | ACA c.2280
S N S T E L D M T D F V F Q A A V P K | T p.760
. . . . . . g.79429
TTCCAGCTGCAGCTCTTGTCTCCTAGCAGCAGCATTGTCCCAGCATTTAACACGGGGACC c.2340
F Q L Q L L S P S S S I V P A F N T G T p.780
. . . | 24 . . . g.80938
ATCACACAAGTCATTAAAGTTCTGAACCCTCAGAAG | CAACAGCTGCGAATGCGGATCAAG c.2400
I T Q V I K V L N P Q K | Q Q L R M R I K p.800
. . . . . . g.80998
CTTACATATAATCACAAGGGCTCAGCAATGCAAGATCTAGCAGAGGTGAACAACTTTCCC c.2460
L T Y N H K G S A M Q D L A E V N N F P p.820
. g.81016
CCTCAGTCCTGGCAATGA c.2478
P Q S W Q X p.825
. . . . . . g.81076
gggtttggcaccattctcattctttatcccactcaatcaaaggaactctgggaaggaggt c.*60
. . . . . . g.81136
tgtgattgctggcaagtcccccccaactgtaccacgggcatgaggagctgaagagaactg c.*120
. . . . . . g.81196
ctgaggaggattttcctaaagttactgctgaccttgaagcattgttaaagactaatgtcc c.*180
. . . . . . g.81256
tctcctccactgttgaggctggctgcttctggaggctactttgcactcttcctcttctcc c.*240
. . . . . . g.81316
tttttccgcacttctccacccctcccacatttacagccagaatcaacattccctgggccc c.*300
. . . . . . g.81376
ctgaggaaataagcagctggtctggaggagaggactgcaatccatggcgaaaaaacactc c.*360
. . . . . . g.81436
actttgtctctgcagcaaagagttgccccttctttctactgttgtttctctgtggactgg c.*420
. . . . . . g.81496
gcaaggtggggtatttattcctcactagctgggttaccatcttcaggcacttttaacatc c.*480
. . . . . . g.81556
tggcattcggaatggaaatgtaataatggacattagggagccctgcctttttctactggt c.*540
. . . . . . g.81616
tcccccaatgtttgaaagaggcattaggctcctggtagccttttctgtgcattgctgtat c.*600
. . . . . . g.81676
acacacagacacacacatgtatgtttgttaccaagaactggtcagaccttgcgagtttat c.*660
. . . . . . g.81736
ttgtaaacactggacagatggagttaaaaagagcttttgttgagatttggcatgaaggat c.*720
. . . . . . g.81796
atggtgctctatttgtaatagaaacttccaaggctcttccagctcccctttctcgccatt c.*780
. . . . . . g.81856
ctttagctgtagtcatgaatagtctccatgattttcaaaattgattccctttaaagtgca c.*840
. . . . . . g.81916
aaatggtcaccttctaaaagatatattcatagttattaatgaccctattcccaccacaaa c.*900
. . . . . . g.81976
ttttaaagtgctcctaagcccataacttgcctgtttgaactatggtaatgggtggaagag c.*960
. . . . . . g.82036
gagttcaccagtttcaaagatcagactctgtatcaaaagtacctttgcccttaggaagag c.*1020
. . . . . . g.82096
tgagtattggagtcatcttatctattactccaaacctccctttttatttcttgagcctgg c.*1080
. . . . . . g.82156
cttggaccttggcattccgtttgaattccttctaactggaacatttgtgttgtatctgta c.*1140
. . . . . . g.82216
acactggcactgaaataaagaccacacggttaaagaaatctttccatattgtactttatg c.*1200
. . . . . . g.82276
gtgttggagtgaagccttgtagcttccatacccctatgtcagaggaggtcttacggacac c.*1260
. . . . . . g.82336
catagggtaggaatagcctttcctcagtctgagaaattggtctcttttaaaagacgaatc c.*1320
. . . . . . g.82396
tcatgaatattcacatcaaagacttgagctttttaaactagtgagagtgccaagtgcttt c.*1380
. . . . . . g.82456
ttagaaaggacccatatgttatcaaactttgaaattgagttgctggaatgaagtagaggt c.*1440
. . . . . . g.82516
gactctctctgtggtacacattgaatgtactatgtatgttcaagtattcaggcgccatgt c.*1500
. . . . . . g.82576
cttatatactgaagaaagaaaaagtgaggcccaccttgctcttacaatgtttgcaattgt c.*1560
. . . . . . g.82636
tactgtattgaatacagtataatgactactatggcttcaatcttaaacctggaaacaaat c.*1620
. . . . . . g.82696
atccctttttttccccttcatttcaccaagcctttacttaaaatcttcagtgtcttgtca c.*1680
. . . . . . g.82756
aatctagctctgtatcagatgctggaatattcctaacatttgacaaactggagttgaact c.*1740
. . . . . . g.82816
aaaggctccacgggaaagtttctggtcttactagtgtgtatgagcaagatctgctaaaac c.*1800
. . . . . . g.82876
ttactccactgggtaaatggttgactgagtcaagaacaggataatatctcctgcatagtt c.*1860
. . . . . . g.82936
ttcagtaatgtaagtgtggactagtgcatatttcagacaactgctctgcctgtgcaatga c.*1920
. . . . . . g.82996
aaaatagcctttaagggtttctttgcagactgatttcattggatggatacttaatgctgt c.*1980
. . . . . . g.83056
gaaacatgataggattaacataatgttggtggatttcttgaatagaatttgtcttaacat c.*2040
. . . . . . g.83116
tcctctttgtgtagaggctttattttctctcttatatttgtagctaaccagctcaggttt c.*2100
. . . . . . g.83176
ttttatttgaactgggttgaatctctgaagaaatctgttcaagaccatgctataagacac c.*2160
. . . . . . g.83236
tgtcagctaatggagctgggaagggtctactctgctgacagagcatttccttgggtgatc c.*2220
. . . . . . g.83296
atagtttcgaggtagagtttatgatcattcatagctttgtctagaaggagtaaaatatca c.*2280
. . . . . . g.83356
tggccttaacacaaagggtgctgcgtagaatatgaattgattttggaatcagaacacaag c.*2340
. . . . . . g.83416
caccatactgaaggactagcagccaaataactgcctaggatactgatggttgtgaagact c.*2400
. . . . . . g.83476
gtttcaaatgattggatctttgaaagcttcagcgtgccttagtttctaggatcagaatta c.*2460
. . . . . . g.83536
gttttcctctcacttggccttgcagctaaatggagaaatgtttcaatttctttgaatact c.*2520
. . . . . . g.83596
tgcacatttcaataattcctttcccgagtataaccactcaagggggagcaaatttggatg c.*2580
. . . . . . g.83656
gatttacgacttcacaggcattgtgaggaaagagcattttccaaggctgttttgataacc c.*2640
. . . . . . g.83716
ctggggtgataagcagtgagccctcacacacttactttgacaatttcacatgcacttgta c.*2700
. . . . . . g.83776
cttcattatttccctcttcaagagtcgtttctattctagtttctgccccatcccggggaa c.*2760
. . . . . . g.83836
tcctaaaggagaattaattcatctaagtaatctcaaaaaactgtaggaagggtgctctcc c.*2820
. . . . . . g.83896
ctgagaagcttctcccacagtgctttggtgctgttaccttgaggtggtttggacagtcac c.*2880
. . . . . . g.83956
ggaagttttaggctgtgcatagtgatcatctgttaattttaaggtctttatcatttaaag c.*2940
. . . . . . g.84016
aaacattcctcagtgtaacatttgggaggggattctttcctcttgctagtttaaaggtgt c.*3000
. . . . . . g.84076
gatttgtactccttgtttgtcccattcatatatgaaaatagacttttaaaactgtccaac c.*3060
. . . . . . g.84136
actaatggtttatataacatgcttcccattttttttatgtcgtagaaattggaagttagg c.*3120
. . . . . . g.84196
gagtactgctttcaaggttcaacttcattatcttctgcattggaaaatatttgggccatg c.*3180
. . . . . . g.84256
agaactaggggaaaggagtttgaatgtgtctatttttttctagtgaatgtattttaacca c.*3240
. . . . . . g.84316
cagtgtcctaaactgagaaaactagagaggaaaaagtgggtgttcatgaactttgtagtt c.*3300
. . . . . . g.84376
gggagagtggttttacatgtctgtgtattcatgactttgggagtgggtaggatcattgga c.*3360
. . . . . . g.84436
gagagaattgcacagaaagtcctgaagtttaaaacacttttgaccagctttggctcggga c.*3420
. . . . . . g.84496
gagtggggctgcttgtagaactggaagtgaataactttttcaagcaatatcagtgagtgg c.*3480
. . . . . . g.84556
gtcccatcgacagggttccaggacctggaacactttaacagaaggaaatgccgaagcagc c.*3540
. . . . . . g.84616
ttgcacagttgctttacagacttccaagaggctgattctggcttcaagatggagccttgg c.*3600
. . . . . . g.84676
agttggtttttttttttttttttttcttccctcaaagaacctgcggttgcgctttgtgtg c.*3660
. . . . . . g.84736
ttttgtttttgttttccatttgggggccccatgggaaagagcttctgaactctttccttt c.*3720
. . . . . . g.84796
atgaactcccactgtgttcctataaaggcccttttctttcttagtgttgtaagttacatt c.*3780
. . . . . . g.84856
ttcattatgccccatcacatcttctttactgtaaaaatattaaaaagctgtttccaagtg c.*3840
. . . . . . g.84916
ggacagctaatgaagctctaattattgcagacatatttttgagatgtaaaaaaaaaaatt c.*3900
. . . . . . g.84976
taaagttaaatgataagtcttagaggcgagtgaggaataaaatggatgtaaacatttaca c.*3960
. . . . . . g.85036
tgggatgcattagaattctgctgtgtgtactgtcttttggttgaaacaaattatgaacag c.*4020
. . . g.85074
tgactaataataaaaagtcaatacccaatgatttaaaa c.*4058
(downstream sequence)
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