(used for variant description)
(last modified October 12, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_000016.4 in the ACADM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007045.1, covering ACADM transcript NM_000016.4.
(upstream sequence)
. g.5010
cgcaagtccc c.-421
. . . . . . g.5070
cccaccgttcagcgcaaccgggccctcccagccccgccgccgtccccctcccccgccctg c.-361
. . . . . . g.5130
gctctctttccgcgctgcggtcagcctcggcgtcccacagagagggccagaggtggaaac c.-301
. . . . . . g.5190
gcagaaaaccaaaccaggactatcagagattgcccggagaggggatgcgacccctcccca c.-241
. . . . . . g.5250
ggtcgcagcgacggcgcacgcaagggtcacggagcatgcgttggctacccggcgccgggg c.-181
. . . . . . g.5310
accgctgccaccccgcctagcgcagcgccccgtccttccgcagcccaaccgcctcttccc c.-121
. . . . . . g.5370
gccccgccccatcccgcccacgggctccagtgggcgggaccagaggagtcccgcgttcgg c.-61
. . . . . . g.5430
ggagtatgtcaaggccgtgacccgtgtattattgtccgagtggccggaacgggagccaac c.-1
. . . | 02 . . . g.9073
ATGGCAGCGGGGTTCGGGCGATGCTGCAGG | GTCCTGAGAAGTATTTCTCGTTTTCATTGG c.60
M A A G F G R C C R | V L R S I S R F H W p.20
. . . . . | 03 g.13288
AGATCACAGCATACAAAAGCCAATCGACAACGTGAACCAGGATTAGGATTTAGTTTTG | AG c.120
R S Q H T K A N R Q R E P G L G F S F E | p.40
. . . . . . g.13348
TTCACCGAACAGCAGAAAGAATTTCAAGCTACTGCTCGTAAATTTGCCAGAGAGGAAATC c.180
F T E Q Q K E F Q A T A R K F A R E E I p.60
. . . | 04 . . . g.13519
ATCCCAGTGGCTGCAGAATATGATAAAACTGGTGAA | TATCCAGTCCCCCTAATTAGAAGA c.240
I P V A A E Y D K T G E | Y P V P L I R R p.80
. . . . | 05 . . g.14184
GCCTGGGAACTTGGTTTAATGAACACACACATTCCAGAGAACTGTG | GAGGTCTTGGACTT c.300
A W E L G L M N T H I P E N C G | G L G L p.100
. . . . . . g.14244
GGAACTTTTGATGCTTGTTTAATTAGTGAAGAATTGGCTTATGGATGTACAGGGGTTCAG c.360
G T F D A C L I S E E L A Y G C T G V Q p.120
. . | 06. . . . g.15466
ACTGCTATTGAAGGAAATTCTTTGGGG | CAAATGCCTATTATTATTGCTGGAAATGATCAA c.420
T A I E G N S L G | Q M P I I I A G N D Q p.140
. . . . | 07 . g.20634
CAAAAGAAGAAGTATTTGGGGAGAATGACTGAGGAGCCATTGATGTGT | GCTTATTGTGTA c.480
Q K K K Y L G R M T E E P L M C | A Y C V p.160
. . . . . . g.20694
ACAGAACCTGGAGCAGGCTCTGATGTAGCTGGTATAAAGACCAAAGCAGAAAAGAAAGGA c.540
T E P G A G S D V A G I K T K A E K K G p.180
. . . . . | 08 g.26449
GATGAGTATATTATTAATGGTCAGAAGATGTGGATAACCAACGGAGGAAAAGCTAATTG | G c.600
D E Y I I N G Q K M W I T N G G K A N W | p.200
. . . . . . g.26509
TATTTTTTATTGGCACGTTCTGATCCAGATCCTAAAGCTCCTGCTAATAAAGCCTTTACT c.660
Y F L L A R S D P D P K A P A N K A F T p.220
. . . . | 09 . g.30073
GGATTCATTGTGGAAGCAGATACCCCAGGAATTCAGATTGGGAGAAAG | GAATTAAACATG c.720
G F I V E A D T P G I Q I G R K | E L N M p.240
. . . . . . g.30133
GGCCAGCGATGTTCAGATACTAGAGGAATTGTCTTCGAAGATGTGAAAGTGCCTAAAGAA c.780
G Q R C S D T R G I V F E D V K V P K E p.260
. . . . . . g.30193
AATGTTTTAATTGGTGACGGAGCTGGTTTCAAAGTTGCAATGGGAGCTTTTGATAAAACC c.840
N V L I G D G A G F K V A M G A F D K T p.280
| 10 . . . . . g.31144
AGACCTGTA | GTAGCTGCTGGTGCTGTTGGATTAGCACAAAGAGCTTTGGATGAAGCTACC c.900
R P V | V A A G A V G L A Q R A L D E A T p.300
. . . . | 11 . . g.41779
AAGTATGCCCTGGAAAGGAAAACTTTCGGAAAGCTACTTGTAGAG | CACCAAGCAATATCA c.960
K Y A L E R K T F G K L L V E | H Q A I S p.320
. . . . . . g.41839
TTTATGCTGGCTGAAATGGCAATGAAAGTTGAACTAGCTAGAATGAGTTACCAGAGAGCA c.1020
F M L A E M A M K V E L A R M S Y Q R A p.340
. . . . . . g.41899
GCTTGGGAGGTTGATTCTGGTCGTCGAAATACCTATTATGCTTCTATTGCAAAGGCATTT c.1080
A W E V D S G R R N T Y Y A S I A K A F p.360
. . . . . . g.41959
GCTGGAGATATTGCAAATCAGTTAGCTACTGATGCTGTGCAGATACTTGGAGGCAATGGA c.1140
A G D I A N Q L A T D A V Q I L G G N G p.380
. . . . . | 12 . g.43340
TTTAATACAGAATATCCTGTAGAAAAACTAATGAGGGATGCCAAAATCTATCAG | ATTTAT c.1200
F N T E Y P V E K L M R D A K I Y Q | I Y p.400
. . . . . . g.43400
GAAGGTACTTCACAAATTCAAAGACTTATTGTAGCCCGTGAACACATTGACAAGTACAAA c.1260
E G T S Q I Q R L I V A R E H I D K Y K p.420
g.43406
AATTAA c.1266
N X p.421
. . . . . . g.43466
aaaaattactgtagaaatattgaataactagaacacaagccactgtttcagctccagaaa c.*60
. . . . . . g.43526
aaagaaagggctttaacgttttttccagtgaaaacaaatcctcttatattaaatctaagc c.*120
. . . . . . g.43586
aactgcttattatagtagtttatacttttgcttaactctgttatgtctcttaagcaggtt c.*180
. . . . . . g.43646
tggtttttattaaaatgatgtgttttctttagtaccactttacttgaattacattaacct c.*240
. . . . . . g.43706
agaaaactacataggttattttgatctcttaagattaatgtagcagaaatttcttggaat c.*300
. . . . . . g.43766
tttatttttgtaatgacagaaaagtgggcttagaaagtattcaagatgttacaaaattta c.*360
. . . . . . g.43826
catttagaaaatattgtagtatttgaatactgtcaacttgacagtaactttgtagactta c.*420
. . . . . . g.43886
atggtattattaaagttctttttattgcagtttggaaagcatttgtgaaactttctgttt c.*480
. . . . . . g.43946
ggcacagaaacagtcaaaattttgacattcatattctcctattttacagctacaagaact c.*540
. . . . . . g.44006
ttcttgaaaatcttatttaattctgagcccatatttcacttaccttatttaaaataaatc c.*600
. . . . . . g.44066
aataaagcttgccttaaattatttttatatgactgttggtctctaggtagcctttggtct c.*660
. . . . . . g.44126
attgtacacaatctcatttcatatgtttgcattttggcaaagaacttaataaaattgttc c.*720
. . . . . . g.44186
agtgcttattatcatatctttctgtattttttccaggaaatttcattacttcgtgtaata c.*780
. . . . . . g.44246
gtgtatatttcttgtatttactatgatgaaaaaaggtcgttttaattttgaattgaataa c.*840
. . . . . . g.44306
agttacctgttcattttttattagatattttaaagacttcagaaaatataaatatgaaat c.*900
g.44313
aatttaa c.*907
(downstream sequence)
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