(used for variant description)
(last modified January 29, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_001037171.1 in the ACOT9 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering ACOT9 transcript NM_001037171.1.
(upstream sequence)
. . g.5026
cgcccccggacaccgctgtccggctc c.-121
. . . . . . g.5086
ccgggctgtcctcagcaagggcgcggtctggtactcgtgcgtcttttatcgcctcagttt c.-61
. . . . . . g.5146
ccctccgccgactagcgcgcggggcccggttctccatcgcgcgcacggcagcctagcgca c.-1
. . | 02 . . . . g.12314
ATGAGGCGGGCAGCACTGCG | GCTTTGTGCCTTGGGCAAAGGGCAGCTTACTCCTGGAAGA c.60
M R R A A L R | L C A L G K G Q L T P G R p.20
. . . . . | 03 g.13925
GGACTGACTCAAGGACCCCAGAACCCCAAGAAACAGGGAATCTTCCACATTCATGAAG | CA c.120
G L T Q G P Q N P K K Q G I F H I H E A | p.40
. . | 04 . . . . g.15108
TGTTCATCTATACATGTGAATCATG | TTCGAGATAAGTTGCGGGAGATAGTAGGAGCATCC c.180
C S S I H V N H V | R D K L R E I V G A S p.60
. | 05 . . . . . g.17353
ACAAACTGGAG | AGACCATGTGAAGGCAATGGAAGAAAGGAAATTACTTCATAGTTTCTTG c.240
T N W R | D H V K A M E E R K L L H S F L p.80
. . . . . . g.17413
GCTAAATCACAGGATGGACTGCCTCCTAGGAGAATGAAGGACAGTTATATTGAAGTTCTC c.300
A K S Q D G L P P R R M K D S Y I E V L p.100
. . . . . . g.17473
TTGCCTTTGGGCAGTGAGCCTGAATTACGAGAGAAATATTTGACTGTTCAAAACACCGTA c.360
L P L G S E P E L R E K Y L T V Q N T V p.120
| 06 . . . . | 07 . . g.25557
AG | ATTTGGCAGGATTCTTGAGGATCTTGACAGCTTGGGAG | TTCTTATTTGTTACATGCAC c.420
R | F G R I L E D L D S L G V | L I C Y M H p.140
. . . . . . g.25617
AACAAAATCCACTCCGCCAAGATGTCTCCTTTATCGATAGTTACAGCCCTGGTGGATAAG c.480
N K I H S A K M S P L S I V T A L V D K p.160
| 08 . . . . . . g.26362
ATTG | ATATGTGTAAGAAGAGCTTGAGCCCAGAACAGGACATTAAGTTCAGTGGCCATGTT c.540
I D | M C K K S L S P E Q D I K F S G H V p.180
. . . . | 09 . g.35094
AGCTGGGTCGGGAAGACATCCATGGAAGTGAAGATGCAAATGTTCCAG | TTACATGGTGAT c.600
S W V G K T S M E V K M Q M F Q | L H G D p.200
. . . . . . g.35154
GAATTTTGTCCTGTTTTGGATGCAACATTTGTAATGGTGGCTCGTGATTCTGAAAATAAA c.660
E F C P V L D A T F V M V A R D S E N K p.220
| 10 . . . . . . g.40404
GG | GCCGGCATTTGTAAATCCACTCATCCCTGAAAGCCCAGAGGAAGAGGAGCTCTTTAGA c.720
G | P A F V N P L I P E S P E E E E L F R p.240
. | 11 . . . . . g.41601
CAAGGGGAAT | TGAACAAGGGGAGAAGAATTGCCTTCAGCTCCACGTCGTTACTGAAAATG c.780
Q G E L | N K G R R I A F S S T S L L K M p.260
. . . . . . g.41661
GCCCCCAGCGCTGAGGAGAGGACCACCATACATGAGATGTTTCTCAGCACACTGGATCCA c.840
A P S A E E R T T I H E M F L S T L D P p.280
| 12 . . . . . . g.42490
AA | GACTATAAGTTTTCGGAGTCGAGTTTTACCCTCTAATGCAGTGTGGATGGAGAATTCA c.900
K | T I S F R S R V L P S N A V W M E N S p.300
. . . | 13 . . . g.42723
AAACTGAAGAGTTTGGAAATTTGCCACCCTCAG | GAGCGGAACATTTTCAATCGGATCTTT c.960
K L K S L E I C H P Q | E R N I F N R I F p.320
. . . . . | 14 g.43211
GGTGGTTTCCTTATGAGGAAGGCATATGAACTTGCGTGGGCTACTGCTTGTAGCTTTGG | T c.1020
G G F L M R K A Y E L A W A T A C S F G | p.340
. . . . . . g.43271
GGTTCTCGACCGTTTGTGGTAGCAGTAGATGACATCATGTTTCAGAAACCTGTTGAGGTT c.1080
G S R P F V V A V D D I M F Q K P V E V p.360
. . | 15. . . . g.43479
GGCTCATTGCTCTTTCTTTCTTCACAG | GTATGCTTTACTCAGAATAATTATATTCAAGTC c.1140
G S L L F L S S Q | V C F T Q N N Y I Q V p.380
. . . . . . g.43539
AGAGTACACAGTGAAGTGGCCTCCCTGCAGGAGAAGCAGCATACAACCACCAATGTCTTT c.1200
R V H S E V A S L Q E K Q H T T T N V F p.400
. . . . . | 16 g.44310
CATTTCACGTTCATGTCGGAAAAAGAAGTGCCATTGGTTTTCCCAAAAACATATGGAG | AG c.1260
H F T F M S E K E V P L V F P K T Y G E | p.420
. . . . . . g.44370
TCCATGTTGTACTTAGATGGGCAGCGGCATTTCAACTCCATGAGTGGCCCAGCGACCTTG c.1320
S M L Y L D G Q R H F N S M S G P A T L p.440
. . g.44397
AGAAAGGACTACCTTGTGGAGCCCTAA c.1347
R K D Y L V E P X p.448
. . . . . . g.44457
gaacaccacatttgttgaaaactagcactctacccacagtgacgtggtatctgatgaaga c.*60
. . . . . . g.44517
cctgatcgagtgtattgattttagtattgcttcgtgtcctccacacaggaggaggatgta c.*120
. . . . . . g.44577
ttcagcctttaggatgatcagaaaagcagaaagagagagtggccggatggggctgagggg c.*180
. . . . . g.44631
agaaagaattattaaacaataaatactttcaagacaattttaattgtgaaccta c.*234
(downstream sequence)
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