(used for variant description)
(last modified October 25, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001129.4 in the AEBP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering AEBP1 transcript NM_001129.4.
(upstream sequence)
g.5005
cggct c.-301
. . . . . . g.5065
atccgcgcgggagtgcgccacgcggggccggagcgcctattagccgccaggacctcggag c.-241
. . . . . . g.5125
cgccccgaccacccctgagcccctctggcttcggagccccccagcaccccttcccgggtc c.-181
. . . . . . g.5185
ccctcgcccaccctaatccactctccctccctttcccggattccctcgctcaccccatcc c.-121
. . . . . . g.5245
tctctcccgccccttcctggattccctcacccgtctcgatcccctctccgccctttccca c.-61
. . . . . . g.5305
gagacccagagcccctgaccccccgcgccctccccggagccccccgcgcgtgccgcggcc c.-1
. . . . . . g.5365
ATGGCGGCCGTGCGCGGGGCGCCCCTGCTCAGCTGCCTCCTGGCGTTGCTGGCCCTGTGC c.60
M A A V R G A P L L S C L L A L L A L C p.20
. . . . . . g.5425
CCTGGAGGGCGCCCGCAGACGGTGCTGACCGACGACGAGATCGAGGAGTTCCTCGAGGGC c.120
P G G R P Q T V L T D D E I E E F L E G p.40
. . . . . . g.5485
TTCCTGTCAGAGCTAGAACCTGAGCCCCGGGAGGACGACGTGGAGGCCCCGCCGCCTCCC c.180
F L S E L E P E P R E D D V E A P P P P p.60
. . . . . . g.5545
GAGCCCACCCCGCGGGTCCGAAAAGCCCAGGCGGGGGGCAAGCCAGGGAAGCGGCCAGGG c.240
E P T P R V R K A Q A G G K P G K R P G p.80
. | 02 . . . . . g.7232
ACGGCCGCAGAAG | TGCCTCCGGAAAAGACCAAAGACAAAGGGAAGAAAGGCAAGAAAGAC c.300
T A A E V | P P E K T K D K G K K G K K D p.100
. . . . . . g.7292
AAAGGCCCCAAGGTGCCCAAGGAGTCCTTGGAGGGGTCCCCCAGGCCGCCCAAGAAGGGG c.360
K G P K V P K E S L E G S P R P P K K G p.120
. . . . . . g.7352
AAGGAGAAGCCACCCAAGGCCACCAAGAAGCCCAAGGAGAAGCCACCTAAGGCCACCAAG c.420
K E K P P K A T K K P K E K P P K A T K p.140
. . . . . . g.7412
AAGCCCAAGGAGAAGCCACCCAAGGCCACCAAGAAGCCCAAAGAGAAGCCACCCAAGGCC c.480
K P K E K P P K A T K K P K E K P P K A p.160
. . . . . . g.7472
ACCAAGAAGCCCCCGTCAGGGAAGAGGCCCCCCATTCTGGCTCCCTCAGAAACCCTGGAG c.540
T K K P P S G K R P P I L A P S E T L E p.180
. . . . . | 03 . g.8083
TGGCCACTGCCCCCACCCCCCAGCCCTGGCCCCGAGGAGCTACCCCAGGAGGGAG | GGGCG c.600
W P L P P P P S P G P E E L P Q E G G | A p.200
. . . . . . g.8143
CCCCTCTCAAATAACTGGCAGAATCCAGGAGAGGAGACCCATGTGGAGGCACGGGAGCAC c.660
P L S N N W Q N P G E E T H V E A R E H p.220
| 04. . . . . . g.8321
CAGCCTG | AGCCGGAGGAGGAGACCGAGCAACCCACACTGGACTACAATGACCAGATCGAG c.720
Q P E | P E E E T E Q P T L D Y N D Q I E p.240
. | 05 . . . . g.8489
AGGGAGGACTATGAGGACT | TTGAGTACATTCGGCGCCAGAAGCAACCCAGGCCACCCCCA c.780
R E D Y E D F | E Y I R R Q K Q P R P P P p.260
. . . . . . g.8549
AGCAGAAGGAGGAGGCCCGAGCGGGTCTGGCCAGAGCCCCCTGAGGAGAAGGCCCCGGCC c.840
S R R R R P E R V W P E P P E E K A P A p.280
. . | 06 . . . . g.8684
CCAGCCCCGGAGGAGAGGATTG | AGCCTCCTGTGAAGCCTCTGCTGCCCCCGCTGCCCCCT c.900
P A P E E R I E | P P V K P L L P P L P P p.300
. . . . | 07 . . g.9558
GACTATGGTGATGGTTACGTGATCCCCAACTACGATGACA | TGGACTATTACTTTGGGCCT c.960
D Y G D G Y V I P N Y D D M | D Y Y F G P p.320
. . . . . | 08 g.9748
CCTCCGCCCCAGAAGCCCGATGCTGAGCGCCAGACAGACGAAGAGAAGGAGGAGCTGA | AG c.1020
P P P Q K P D A E R Q T D E E K E E L K | p.340
. . . . . . g.9808
AAACCCAAAAAGGAGGACAGCAGCCCCAAGGAGGAGACCGACAAGTGGGCAGTGGAGAAG c.1080
K P K K E D S S P K E E T D K W A V E K p.360
. | 09 . . . . . g.9971
GGCAAGGACCACAAAG | AGCCCCGAAAGGGCGAGGAGTTGGAGGAGGAGTGGACGCCTACG c.1140
G K D H K E | P R K G E E L E E E W T P T p.380
. | 10 . . . . . g.10704
GAGAAAGTCA | AGTGTCCCCCCATTGGGATGGAGTCACACCGTATTGAGGACAACCAGATC c.1200
E K V K | C P P I G M E S H R I E D N Q I p.400
. . . . . . g.10764
CGAGCCTCCTCCATGCTGCGCCACGGCCTGGGGGCACAGCGCGGCCGGCTCAACATGCAG c.1260
R A S S M L R H G L G A Q R G R L N M Q p.420
| 11 . . . . . . g.10906
| ACCGGTGCCACTGAGGACGACTACTATGATGGTGCGTGGTGTGCCGAGGACGATGCCAGG c.1320
| T G A T E D D Y Y D G A W C A E D D A R p.440
. . . . . . g.10966
ACCCAGTGGATAGAGGTGGACACCAGGAGGACTACCCGGTTCACAGGCGTCATCACCCAG c.1380
T Q W I E V D T R R T T R F T G V I T Q p.460
. . | 12 . . . . g.11404
GGCAGAGACTCCAGCATCCA | TGACGATTTTGTGACCACCTTCTTCGTGGGCTTCAGCAAT c.1440
G R D S S I H | D D F V T T F F V G F S N p.480
. . . . | 13 . . g.11567
GACAGCCAGACATGGGTGATGTACACCAACGGCTATGAGGAAATG | ACCTTTCATGGGAAC c.1500
D S Q T W V M Y T N G Y E E M | T F H G N p.500
. . . . . . g.11627
GTGGACAAGGACACACCCGTGCTGAGTGAGCTCCCAGAGCCGGTGGTGGCTCGTTTCATC c.1560
V D K D T P V L S E L P E P V V A R F I p.520
. . . . . . g.11687
CGCATCTACCCACTCACCTGGAATGGCAGCCTGTGCATGCGCCTGGAGGTGCTGGGGTGC c.1620
R I Y P L T W N G S L C M R L E V L G C p.540
. | 14 . . . . . g.11843
TCTGTGGCCC | CTGTCTACAGCTACTACGCACAGAATGAGGTGGTGGCCACCGATGACCTG c.1680
S V A P | V Y S Y Y A Q N E V V A T D D L p.560
. . . | 15 . . . g.12170
GATTTCCGGCACCACAGCTACAAGGACATGCGCCAG | CTCATGAAGGTGGTGAACGAGGAG c.1740
D F R H H S Y K D M R Q | L M K V V N E E p.580
. . . . . . g.12230
TGCCCCACCATCACCCGCACTTACAGCCTGGGCAAGAGCTCACGAGGCCTCAAGATCTAT c.1800
C P T I T R T Y S L G K S S R G L K I Y p.600
. . . . | 16 . . g.12513
GCCATGGAGATCTCAGACAACCCTGGGGAGCATGAACTGG | GGGAGCCCGAGTTCCGCTAC c.1860
A M E I S D N P G E H E L G | E P E F R Y p.620
. . . . . . g.12573
ACTGCTGGGATCCATGGCAACGAGGTGCTGGGCCGAGAGCTGTTGCTGCTGCTCATGCAG c.1920
T A G I H G N E V L G R E L L L L L M Q p.640
. . . . . . g.12633
TACCTGTGCCGAGAGTACCGCGATGGGAACCCACGTGTGCGCAGCCTGGTGCAGGACACA c.1980
Y L C R E Y R D G N P R V R S L V Q D T p.660
. . . . . | 17. g.12784
CGCATCCACCTGGTGCCCTCACTGAACCCTGATGGCTACGAGGTGGCAGCGCAGATG | GGC c.2040
R I H L V P S L N P D G Y E V A A Q M | G p.680
. . . . . . g.12844
TCAGAGTTTGGGAACTGGGCGCTGGGACTGTGGACTGAGGAGGGCTTTGACATCTTTGAA c.2100
S E F G N W A L G L W T E E G F D I F E p.700
. . . . . . g.12904
GATTTCCCGGATCTCAACTCTGTGCTCTGGGGAGCTGAGGAGAGGAAATGGGTCCCCTAC c.2160
D F P D L N S V L W G A E E R K W V P Y p.720
. . . . . | 18. g.13200
CGGGTCCCCAACAATAACTTGCCCATCCCTGAACGCTACCTTTCGCCAGATGCCACG | GTA c.2220
R V P N N N L P I P E R Y L S P D A T | V p.740
. . . . . . g.13260
TCCACGGAGGTCCGGGCCATCATTGCCTGGATGGAGAAGAACCCCTTCGTGCTGGGAGCA c.2280
S T E V R A I I A W M E K N P F V L G A p.760
. . . . . . g.13320
AATCTGAACGGCGGCGAGCGGCTAGTATCCTACCCCTACGATATGGCCCGCACGCCTACC c.2340
N L N G G E R L V S Y P Y D M A R T P T p.780
. . . . . . g.13380
CAGGAGCAGCTGCTGGCCGCAGCCATGGCAGCAGCCCGGGGGGAGGATGAGGACGAGGTC c.2400
Q E Q L L A A A M A A A R G E D E D E V p.800
. . . . . . g.13440
TCCGAGGCCCAGGAGACTCCAGACCACGCCATCTTCCGGTGGCTTGCCATCTCCTTCGCC c.2460
S E A Q E T P D H A I F R W L A I S F A p.820
. . . . . . g.13500
TCCGCACACCTCACCTTGACCGAGCCCTACCGCGGAGGCTGCCAAGCCCAGGACTACACC c.2520
S A H L T L T E P Y R G G C Q A Q D Y T p.840
. . . . | 19 . g.13641
GGCGGCATGGGCATCGTCAACGGGGCCAAGTGGAACCCCCGGACCGGGA | CTATCAATGAC c.2580
G G M G I V N G A K W N P R T G T | I N D p.860
. . . . . . g.13701
TTCAGTTACCTGCATACCAACTGCCTGGAGCTCTCCTTCTACCTGGGCTGTGACAAGTTC c.2640
F S Y L H T N C L E L S F Y L G C D K F p.880
. . . . . . g.13761
CCTCATGAGAGTGAGCTGCCCCGCGAGTGGGAGAACAACAAGGAGGCGCTGCTCACCTTC c.2700
P H E S E L P R E W E N N K E A L L T F p.900
| 20 . . . . . g.13942
ATGGAGCAG | GTGCACCGCGGCATTAAGGGGGTGGTGACGGACGAGCAAGGCATCCCCATT c.2760
M E Q | V H R G I K G V V T D E Q G I P I p.920
. . . . | 21 . g.14244
GCCAACGCCACCATCTCTGTGAGTGGCATTAATCACGGCGTGAAGACAG | CCAGTGGTGGT c.2820
A N A T I S V S G I N H G V K T A | S G G p.940
. . . . . . g.14304
GATTACTGGCGAATCTTGAACCCGGGTGAGTACCGCGTGACAGCCCACGCGGAGGGCTAC c.2880
D Y W R I L N P G E Y R V T A H A E G Y p.960
. . . . . . g.14364
ACCCCGAGCGCCAAGACCTGCAATGTTGACTATGACATCGGGGCCACTCAGTGCAACTTC c.2940
T P S A K T C N V D Y D I G A T Q C N F p.980
. . . . . . g.14424
ATCCTGGCTCGCTCCAACTGGAAGCGCATCCGGGAGATCATGGCCATGAACGGGAACCGG c.3000
I L A R S N W K R I R E I M A M N G N R p.1000
. . . . . . g.14484
CCTATCCCACACATAGACCCATCGCGCCCTATGACCCCCCAACAGCGACGCCTGCAGCAG c.3060
P I P H I D P S R P M T P Q Q R R L Q Q p.1020
. . . . . . g.14544
CGACGCCTACAACACCGCCTGCGGCTTCGGGCACAGATGCGGCTGCGGCGCCTCAACGCC c.3120
R R L Q H R L R L R A Q M R L R R L N A p.1040
. . . . . . g.14604
ACCACCACCCTAGGCCCCCACACTGTGCCTCCCACGCTGCCCCCTGCCCCTGCCACCACC c.3180
T T T L G P H T V P P T L P P A P A T T p.1060
. . . . . . g.14664
CTGAGCACTACCATAGAGCCCTGGGGCCTCATACCGCCAACCACCGCTGGCTGGGAGGAG c.3240
L S T T I E P W G L I P P T T A G W E E p.1080
. . . . . . g.14724
TCGGAGACTGAGACCTACACAGAGGTGGTGACAGAGTTTGGGACCGAGGTGGAGCCCGAG c.3300
S E T E T Y T E V V T E F G T E V E P E p.1100
. . . . . . g.14784
TTTGGGACCAAGGTGGAGCCCGAGTTTGAGACCCAGTTGGAGCCTGAGTTTGAGACCCAG c.3360
F G T K V E P E F E T Q L E P E F E T Q p.1120
. . . . . . g.14844
CTGGAACCCGAGTTTGAGGAAGAGGAGGAGGAGGAGAAAGAGGAGGAGATAGCCACTGGC c.3420
L E P E F E E E E E E E K E E E I A T G p.1140
. . . . . g.14901
CAGGCATTCCCCTTCACAACAGTAGAGACCTACACAGTGAACTTTGGGGACTTCTGA c.3477
Q A F P F T T V E T Y T V N F G D F X p.1158
. . . . . . g.14961
gatcagcgtcctaccaagaccccagcccaactcaagctacagcagcagcacttcccaagc c.*60
. . . . . . g.15021
ctgctgaccacagtcacatcacccatcagcacatggaaggcccctggtatggacactgaa c.*120
. . . . . . g.15081
aggaagggctggtcctgcccctttgagggggtgcaaacatgactgggacctaagagccag c.*180
. . . . . . g.15141
aggctgtgtagaggctcctgctccacctgccagtctcgtaagagatggggttgctgcagt c.*240
. . . . . . g.15201
gttggagtaggggcagagggagggagccaaggtcactccaataaaacaagctcatggcac c.*300
g.15205
ggac c.*304
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 20a
©2004-2017 Leiden University Medical Center