(used for variant description)
(last modified October 10, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_203379.1 in the ACSL5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering ACSL5 transcript NM_203379.1.
(upstream sequence)
. . g.5021
agtcctaggagctgtggaaag c.-121
. . . . . . g.5081
agtagaagtgcctgaatgtggtgctgaatcaatacagccagctgtgaggggagcacttcc c.-61
. . . . | 02 . . g.25789
tggacccaggaagggagagtcttcttccaag | gtctgaatttcctgctgctgttcacaaag c.-1
. . . . . . g.25849
ATGCTTTTTATCTTTAACTTTTTGTTTTCCCCACTTCCGACCCCGGCGTTGATCTGCATC c.60
M L F I F N F L F S P L P T P A L I C I p.20
. . . . . . g.25909
CTGACATTTGGAGCTGCCATCTTCTTGTGGCTGATCACCAGACCTCAACCCGTCTTACCT c.120
L T F G A A I F L W L I T R P Q P V L P p.40
. . . | 03 . . . g.29767
CTTCTTGACCTGAACAATCAGTCTGTGGGAATTGAG | GGAGGAGCACGGAAGGGGGTTTCC c.180
L L D L N N Q S V G I E | G G A R K G V S p.60
. . . . . . g.29827
CAGAAGAACAATGACCTAACAAGTTGCTGCTTCTCAGATGCCAAGACTATGTATGAGGTT c.240
Q K N N D L T S C C F S D A K T M Y E V p.80
. . | 04 . . . . g.35388
TTCCAAAGAGGACTCGCTGTGTCTG | ACAATGGGCCCTGCTTGGGATATAGAAAACCAAAC c.300
F Q R G L A V S D | N G P C L G Y R K P N p.100
. . . | 05 . . . g.35577
CAGCCCTACAGATGGCTATCTTACAAACAG | GTGTCTGATAGAGCAGAGTACCTGGGTTCC c.360
Q P Y R W L S Y K Q | V S D R A E Y L G S p.120
. . . . . . g.35637
TGTCTCTTGCATAAAGGTTATAAATCATCACCAGACCAGTTTGTCGGCATCTTTGCTCAG c.420
C L L H K G Y K S S P D Q F V G I F A Q p.140
. | 06 . . . . . g.39312
AATAGGCCAGAG | TGGATCATCTCCGAATTGGCTTGTTACACGTACTCTATGGTAGCTGTA c.480
N R P E | W I I S E L A C Y T Y S M V A V p.160
. . . . . | 07 . g.40357
CCTCTGTATGACACCTTGGGACCAGAAGCCATCGTACATATTGTCAACAAGG | CTGATATC c.540
P L Y D T L G P E A I V H I V N K A | D I p.180
. . . . . . g.40417
GCCATGGTGATCTGTGACACACCCCAAAAGGCATTGGTGCTGATAGGGAATGTAGAGAAA c.600
A M V I C D T P Q K A L V L I G N V E K p.200
. . . . . . g.40477
GGCTTCACCCCGAGCCTGAAGGTGATCATCCTTATGGACCCCTTTGATGATGACCTGAAG c.660
G F T P S L K V I I L M D P F D D D L K p.220
. . . . . | 08 . g.41314
CAAAGAGGGGAGAAGAGTGGAATTGAGATCTTATCCCTATATGATGCTGAG | AACCTAGGC c.720
Q R G E K S G I E I L S L Y D A E | N L G p.240
. . | 09 . . . . g.41462
AAAGAGCACTTCAGAAAACCTGTG | CCTCCTAGCCCAGAAGACCTGAGCGTCATCTGCTTC c.780
K E H F R K P V | P P S P E D L S V I C F p.260
. | 10 . . . . . g.42342
ACCAGTGGGACCACAG | GTGACCCCAAAGGAGCCATGATAACCCATCAAAATATTGTTTCA c.840
T S G T T G | D P K G A M I T H Q N I V S p.280
. . . | 11 . . . g.42774
AATGCTGCTGCCTTTCTCAAATGTGTGGAG | CATGCTTATGAGCCCACTCCTGATGATGTG c.900
N A A A F L K C V E | H A Y E P T P D D V p.300
. . . . | 12 . g.44027
GCCATATCCTACCTCCCTCTGGCTCATATGTTTGAGAGGATTGTACAG | GCTGTTGTGTAC c.960
A I S Y L P L A H M F E R I V Q | A V V Y p.320
. . . . . . g.44087
AGCTGTGGAGCCAGAGTTGGATTCTTCCAAGGGGATATTCGGTTGCTGGCTGACGACATG c.1020
S C G A R V G F F Q G D I R L L A D D M p.340
. . . . . . g.44147
AAGACTTTGAAGCCCACATTGTTTCCCGCGGTGCCTCGACTCCTTAACAGGATCTACGAT c.1080
K T L K P T L F P A V P R L L N R I Y D p.360
| 13 . . . . . . g.47787
AAG | GTACAAAATGAGGCCAAGACACCCTTGAAGAAGTTCTTGTTGAAGCTGGCTGTTTCC c.1140
K | V Q N E A K T P L K K F L L K L A V S p.380
. . . . . . g.47847
AGTAAATTCAAAGAGCTTCAAAAGGGTATCATCAGGCATGATAGTTTCTGGGACAAGCTC c.1200
S K F K E L Q K G I I R H D S F W D K L p.400
. | 14 . . . . g.48730
ATCTTTGCAAAGATCCAG | GACAGCCTGGGCGGAAGGGTTCGTGTAATTGTCACTGGAGCT c.1260
I F A K I Q | D S L G G R V R V I V T G A p.420
. . . . . | 15 . g.52441
GCCCCCATGTCCACTTCAGTCATGACATTCTTCCGGGCAGCAATGGGATGTCAG | GTGTAT c.1320
A P M S T S V M T F F R A A M G C Q | V Y p.440
. . . . . . g.52501
GAAGCTTATGGTCAAACAGAATGCACAGGTGGCTGTACATTTACATTACCTGGGGACTGG c.1380
E A Y G Q T E C T G G C T F T L P G D W p.460
| 16. . . . . . g.52842
ACATCAG | GTCACGTTGGGGTGCCCCTGGCTTGCAATTACGTGAAGCTGGAAGATGTGGCT c.1440
T S G | H V G V P L A C N Y V K L E D V A p.480
. . . | 17 . . . g.53191
GACATGAACTACTTTACAGTGAATAATGAAGGAGAG | GTCTGCATCAAGGGTACAAACGTG c.1500
D M N Y F T V N N E G E | V C I K G T N V p.500
. . . . . . g.53251
TTCAAAGGATACCTGAAGGACCCTGAGAAGACACAGGAAGCCCTGGACAGTGATGGCTGG c.1560
F K G Y L K D P E K T Q E A L D S D G W p.520
. . . | 18 . . . g.56207
CTTCACACAGGAGACATTGGTCGCTGGCTCCCG | AATGGAACTCTGAAGATCATCGACCGT c.1620
L H T G D I G R W L P | N G T L K I I D R p.540
. . . . . . g.56267
AAAAAGAACATTTTCAAGCTGGCCCAAGGAGAATACATTGCACCAGAGAAGATAGAAAAT c.1680
K K N I F K L A Q G E Y I A P E K I E N p.560
. . . . . | 19. g.57103
ATCTACAACAGGAGTCAACCAGTGTTACAAATTTTTGTACACGGGGAGAGCTTACGG | TCA c.1740
I Y N R S Q P V L Q I F V H G E S L R | S p.580
. . . . . . g.57163
TCCTTAGTAGGAGTGGTGGTTCCTGACACAGATGTACTTCCCTCATTTGCAGCCAAGCTT c.1800
S L V G V V V P D T D V L P S F A A K L p.600
. . . | 20 . . g.57651
GGGGTGAAGGGCTCCTTTGAGGAACTGTGCCAAAACCAA | GTTGTAAGGGAAGCCATTTTA c.1860
G V K G S F E E L C Q N Q | V V R E A I L p.620
. . . . . | 21 . g.58069
GAAGACTTGCAGAAAATTGGGAAAGAAAGTGGCCTTAAAACTTTTGAACAG | GTCAAAGCC c.1920
E D L Q K I G K E S G L K T F E Q | V K A p.640
. . . . . . g.58129
ATTTTTCTTCATCCAGAGCCATTTTCCATTGAAAATGGGCTCTTGACACCAACATTGAAA c.1980
I F L H P E P F S I E N G L L T P T L K p.660
. . . . . . g.58189
GCAAAGCGAGGAGAGCTTTCCAAATACTTTCGGACCCAAATTGACAGCCTGTATGAGCAC c.2040
A K R G E L S K Y F R T Q I D S L Y E H p.680
. g.58201
ATCCAGGATTAG c.2052
I Q D X p.683
. . . . . . g.58261
gataaggtacttaagtacctgccggcccactgtgcactgcttgtgagaaaatggattaaa c.*60
. . . . . . g.58321
aactattcttacatttgttttgcctttcctcctatttttttttaacctgttaaactctaa c.*120
. . . . . . g.58381
agccatagcttttgttttatattgagacatataatgtgtaaacttagttcccaaataaat c.*180
. . . . . . g.58441
caatcctgtctttcccatcttcgatgttgctaatattaaggcttcagggctacttttatc c.*240
. . . . . . g.58501
aacatgcctgtcttcaagatcccagtttatgttctgtgtccttcctcatgatttccaacc c.*300
. . . . . . g.58561
ttaatactattagtaaccacaagttcaagggtcaaagggaccctctgtgccttcttcttt c.*360
. . . . . . g.58621
gttttgtgataaacataacttgccaacagtctctatgcttatttacatcttctactgttc c.*420
. . . . . . g.58681
aaactaagagatttttaaattctgaaaaactgcttacaattcatgttttctagccactcc c.*480
. . . . . . g.58741
acaaaccactaaaattttagttttagcctatcactcatgtcaatcatatctatgagacaa c.*540
. . . . . . g.58801
atgtctccgatgctcttctgcgtaaattaaattgtgtactgaagggaaaagtttgatcat c.*600
. . . . . . g.58861
accaaacatttcctaaactctctagttagatatctgacttgggagtattaaaaattgggt c.*660
. . . . . . g.58921
ctatgacatattgtccaaaaggaatgctgttcttaaagcattatttacagtaggaactgg c.*720
. . . . . . g.58981
ggagtaaatctgttccctacagtttgctgctgagctggaagctgtgggggaaggagttga c.*780
. . . . . . g.59041
caggtgggcccagtgaacttttccagtaaatgaagcaagcactgaataaaaacctcctga c.*840
. . . . . . g.59101
actgggaacaaagatctacaggcaagcaagatgcccacacaacaggcttattttctgtga c.*900
. . . . . . g.59161
aggaaccaactgatctcccccacccttggattagagttcctgctctaccttacccacaga c.*960
. . . . . . g.59221
taacacatgttgtttctacttgtaaatgtaaagtctttaaaataaactattacagatact c.*1020
g.59223
ta c.*1022
(downstream sequence)
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