(used for variant description)
(last modified July 10, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_000036.2 in the AMPD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008012.1, covering AMPD1 transcript NM_000036.2.
(upstream sequence)
. . . . g.4985
acttagcagagaagaatcaaatttccgggggcaaagcaaaataataaa c.-1
. . . . . . g.5045
ATGAATGTCAGGATATTTTATAGTGTCAGTCAGTCACCCCACAGTCTCCTCTCTCTTCTT c.60
M N V R I F Y S V S Q S P H S L L S L L p.20
. . . . . . g.5105
TTCTACTGTGCTATCCTAGAATCAAGGATTTCAGCAACAATGCCTCTGTTCAAACTCCCA c.120
F Y C A I L E S R I S A T M P L F K L P p.40
| 02 . | 03 . . . . . g.11861
G | CTGAAGAGAAAC | AAATTGATGATGCAATGCGCAACTTTGCTGAAAAAGTGTTTGCCTCT c.180
A | E E K Q | I D D A M R N F A E K V F A S p.60
. . . . . . g.11921
GAAGTCAAAGATGAAGGAGGTCGTCAGGAGATTTCCCCCTTTGATGTGGATGAGATCTGT c.240
E V K D E G G R Q E I S P F D V D E I C p.80
. . . . . . g.11981
CCGATTTCTCATCATGAGATGCAAGCACACATATTCCATCTGGAGACTCTGTCCACCTCC c.300
P I S H H E M Q A H I F H L E T L S T S p.100
. | 04 . . . . . g.13691
ACAGAAGCCAGGAG | AAAAAAGCGTTTCCAAGGACGGAAGACTGTTAATTTGTCCATTCCA c.360
T E A R R | K K R F Q G R K T V N L S I P p.120
. . . . . . g.13751
CTAAGTGAAACATCTTCCACCAAACTGTCCCACATTGATGAATACATTTCCTCATCTCCA c.420
L S E T S S T K L S H I D E Y I S S S P p.140
. . . . . . g.13811
ACCTACCAGACCGTGCCTGATTTTCAGAGAGTGCAGATTACTGGTGACTATGCCTCTGGG c.480
T Y Q T V P D F Q R V Q I T G D Y A S G p.160
| 05 . . . . . . g.16251
| GTTACAGTTGAAGATTTTGAAATTGTTTGCAAAGGTCTGTATCGGGCACTATGCATACGT c.540
| V T V E D F E I V C K G L Y R A L C I R p.180
. . . . . . g.16311
GAGAAATACATGCAGAAGTCGTTTCAGAGGTTCCCTAAAACCCCTTCCAAATACTTGCGG c.600
E K Y M Q K S F Q R F P K T P S K Y L R p.200
. . . . | 06 . . g.20091
AACATTGATGGTGAGGCTTGGGTAGCAAATGAGAGCTTCTATCCAG | TCTTTACTCCTCCT c.660
N I D G E A W V A N E S F Y P V | F T P P p.220
. . . . . . g.20151
GTGAAGAAGGGAGAGGACCCCTTCCGAACAGACAACCTTCCTGAAAACCTGGGCTATCAC c.720
V K K G E D P F R T D N L P E N L G Y H p.240
. . . . . . g.20211
CTCAAAATGAAGGACGGTGTAGTTTACGTCTATCCTAATGAAGCAGCAGTCAGCAAAGAT c.780
L K M K D G V V Y V Y P N E A A V S K D p.260
. . . . . . g.20271
GAGCCTAAGCCACTTCCTTACCCAAATCTGGACACCTTCTTAGACGATATGAATTTTTTA c.840
E P K P L P Y P N L D T F L D D M N F L p.280
. . | 07 . . . . g.20881
CTTGCTTTAATTGCTCAAGGACCTGT | TAAGACCTATACCCACCGGCGCCTGAAGTTCCTC c.900
L A L I A Q G P V | K T Y T H R R L K F L p.300
. . . . . . g.20941
TCCTCCAAGTTCCAGGTCCATCAGATGCTTAACGAGATGGACGAGTTAAAGGAGCTGAAA c.960
S S K F Q V H Q M L N E M D E L K E L K p.320
. . . | 08 . . . g.22052
AACAACCCCCACCGAGATTTTTATAACTGCAGGAAG | GTGGACACCCATATCCATGCAGCC c.1020
N N P H R D F Y N C R K | V D T H I H A A p.340
. . . . . . g.22112
GCTTGCATGAACCAGAAACATCTGCTGCGTTTTATTAAGAAATCTTACCAAATTGATGCT c.1080
A C M N Q K H L L R F I K K S Y Q I D A p.360
. . . . . . g.22172
GACAGAGTGGTCTATAGCACCAAAGAGAAGAATCTGACCCTAAAGGAACTTTTTGCTAAA c.1140
D R V V Y S T K E K N L T L K E L F A K p.380
. . . . . | 09 . g.22523
TTAAAAATGCATCCTTATGACCTGACTGTTGATTCTCTGGATGTTCATGCT | GGACGCCAG c.1200
L K M H P Y D L T V D S L D V H A | G R Q p.400
. . . . . . g.22583
ACCTTCCAGCGTTTTGATAAGTTCAATGACAAATATAATCCTGTAGGAGCAAGTGAGCTA c.1260
T F Q R F D K F N D K Y N P V G A S E L p.420
. . . . . . g.22643
CGGGACCTCTACTTGAAGACAGACAATTACATTAATGGGGAATATTTTGCCACTATCATC c.1320
R D L Y L K T D N Y I N G E Y F A T I I p.440
| 10 . . . . . . g.23098
AAG | GAGGTAGGTGCGGACCTGGTGGAGGCCAAGTACCAGCATGCTGAGCCCCGCCTGTCC c.1380
K | E V G A D L V E A K Y Q H A E P R L S p.460
. . . . . . g.23158
ATCTATGGCCGCAGTCCTGATGAGTGGAGCAAACTCTCCTCCTGGTTCGTCTGCAATCGC c.1440
I Y G R S P D E W S K L S S W F V C N R p.480
. . . . | 11. . g.24565
ATCCACTGCCCCAACATGACATGGATGATCCAGGTTCCCAGGATCTA | TGATGTGTTCCGT c.1500
I H C P N M T W M I Q V P R I Y | D V F R p.500
. . . . . . g.24625
TCCAAGAATTTCCTTCCACATTTTGGAAAAATGCTGGAGAATATTTTCATGCCAGTGTTT c.1560
S K N F L P H F G K M L E N I F M P V F p.520
. . . . . | 12 . g.24868
GAGGCCACCATCAACCCCCAGGCTGACCCAGAACTCAGTGTCTTCCTCAAGCAT | ATCACT c.1620
E A T I N P Q A D P E L S V F L K H | I T p.540
. . . . . . g.24928
GGCTTTGACAGTGTGGATGATGAGTCCAAACACAGTGGCCACATGTTCTCCTCCAAGAGT c.1680
G F D S V D D E S K H S G H M F S S K S p.560
. . . . . . g.24988
CCCAAGCCCCAGGAGTGGACATTGGAAAAGAATCCATCTTACACTTACTATGCCTACTAC c.1740
P K P Q E W T L E K N P S Y T Y Y A Y Y p.580
. . . | 13 . . g.25705
ATGTATGCAAACATCATGGTGCTCAACAGCCTGAGAAA | GGAACGAGGCATGAATACGTTT c.1800
M Y A N I M V L N S L R K | E R G M N T F p.600
. . . . . . g.25765
CTGTTCCGACCTCACTGTGGAGAAGCTGGAGCCCTCACCCATCTCATGACAGCATTCATG c.1860
L F R P H C G E A G A L T H L M T A F M p.620
. . . | 14 . . g.26494
ATAGCAGATGATATCTCTCATGGCCTAAATTTAAAAAAG | AGTCCCGTGCTACAGTACTTG c.1920
I A D D I S H G L N L K K | S P V L Q Y L p.640
. . . . . . g.26554
TTTTTCTTAGCCCAAATTCCCATCGCCATGTCACCACTAAGTAACAATAGCCTATTTCTA c.1980
F F L A Q I P I A M S P L S N N S L F L p.660
. . . . . . g.26614
GAGTATGCCAAAAATCCTTTTTTGGATTTCCTTCAGAAAGGGCTAATGATCTCACTGTCT c.2040
E Y A K N P F L D F L Q K G L M I S L S p.680
. . . | 15 . . . g.26833
ACAGATGACCCAATGCAATTCCACTTTACCAAG | GAGCCCCTAATGGAAGAATATGCTATT c.2100
T D D P M Q F H F T K | E P L M E E Y A I p.700
. . . . . . g.26893
GCTGCACAAGTCTTCAAGCTGAGCACCTGTGATATGTGCGAAGTGGCAAGGAACAGTGTC c.2160
A A Q V F K L S T C D M C E V A R N S V p.720
. . | 16 . . . . g.27319
TTGCAGTGTGGAATTTCTCATGAG | GAGAAAGTAAAGTTTCTGGGCGACAATTACCTTGAG c.2220
L Q C G I S H E | E K V K F L G D N Y L E p.740
. . . . . . g.27379
GAAGGCCCTGCTGGAAATGATATCCGGAGGACAAATGTAGCCCAAATCCGCATGGCCTAT c.2280
E G P A G N D I R R T N V A Q I R M A Y p.760
. . . . . . g.27439
CGCTATGAAACCTGGTGTTATGAACTCAATTTAATTGCTGAGGGTCTTAAATCAACAGAA c.2340
R Y E T W C Y E L N L I A E G L K S T E p.780
g.27442
TAA c.2343
X p.780
. g.27458
aaaaaagtaaaccaaa c.*16
(downstream sequence)
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