(used for variant description)
(last modified February 17, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_000019.3 in the ACAT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering ACAT1 transcript NM_000019.3.
(upstream sequence)
. g.5016
ggccgctaggggtgcg c.-61
. . . . . . g.5076
gggttggggaggaggccgctagtctacgcctgtggagccgatactcagccctctgcgacc c.-1
. . . . . . g.5136
ATGGCTGTGCTGGCGGCACTTCTGCGCAGCGGCGCCCGCAGCCGCAGCCCCCTGCTCCGG c.60
M A V L A A L L R S G A R S R S P L L R p.20
. | 02 . . . . . g.15424
AGGCTGGTGCAG | GAAATAAGATATGTGGAACGGAGTTATGTATCAAAACCCACTTTGAAG c.120
R L V Q | E I R Y V E R S Y V S K P T L K p.40
| 03 . . . . . . g.17349
| GAAGTGGTCATAGTAAGTGCTACAAGAACACCCATTGGATCTTTTTTAGGCAGCCTTTCC c.180
| E V V I V S A T R T P I G S F L G S L S p.60
. . . . . | 04 g.17692
TTGCTGCCAGCCACTAAGCTTGGTTCCATTGCAATTCAGGGAGCCATTGAAAAGGCAG | GG c.240
L L P A T K L G S I A I Q G A I E K A G | p.80
. . . . . . g.17752
ATTCCAAAAGAAGAAGTGAAAGAAGCATACATGGGTAATGTTCTACAAGGAGGTGAAGGA c.300
I P K E E V K E A Y M G N V L Q G G E G p.100
. . . | 05 . . . g.18637
CAAGCTCCTACAAGGCAGGCAGTATTGGGTGCAG | GCTTACCTATTTCTACTCCATGTACC c.360
Q A P T R Q A V L G A G | L P I S T P C T p.120
. . . . . . g.18697
ACCATAAACAAAGTTTGTGCTTCAGGAATGAAAGCCATCATGATGGCCTCTCAAAGTCTT c.420
T I N K V C A S G M K A I M M A S Q S L p.140
. | 06 . . . . . g.22412
ATGTGTGGACATCAG | GATGTGATGGTGGCAGGTGGGATGGAGAGCATGTCCAATGTTCCA c.480
M C G H Q | D V M V A G G M E S M S N V P p.160
. . . . . . g.22472
TATGTAATGAACAGAGGATCAACACCATATGGTGGGGTAAAGCTTGAAGATTTGATTGTA c.540
Y V M N R G S T P Y G G V K L E D L I V p.180
. . . | 07 . . g.23555
AAAGACGGGCTAACTGATGTCTACAATAAAATTCATATG | GGCAGCTGTGCTGAGAATACA c.600
K D G L T D V Y N K I H M | G S C A E N T p.200
. . . . . . g.23615
GCAAAGAAGCTGAATATTGCACGAAATGAACAGGACGCTTATGCTATTAATTCTTATACC c.660
A K K L N I A R N E Q D A Y A I N S Y T p.220
. . . . . . g.23675
AGAAGTAAAGCAGCATGGGAAGCTGGGAAATTTGGAAATGAAGTTATTCCTGTCACAGTT c.720
R S K A A W E A G K F G N E V I P V T V p.240
. | 08 . . . . . g.25124
ACAGTAAAAG | GTCAACCAGATGTAGTGGTGAAAGAAGATGAAGAATATAAACGTGTTGAT c.780
T V K G | Q P D V V V K E D E E Y K R V D p.260
. . . . | 09 . . g.25920
TTTAGCAAAGTTCCAAAGCTGAAGACAGTTTTCCAGAAAGAAAATG | GCACAGTAACAGCT c.840
F S K V P K L K T V F Q K E N G | T V T A p.280
. . . . . . g.25980
GCCAATGCCAGTACACTGAATGATGGAGCAGCTGCTCTGGTTCTCATGACGGCAGATGCA c.900
A N A S T L N D G A A A L V L M T A D A p.300
. . . . | 10 . . g.27472
GCGAAGAGGCTCAATGTTACACCACTGGCAAGAATAGTAG | CATTTGCTGACGCTGCTGTA c.960
A K R L N V T P L A R I V A | F A D A A V p.320
. . . . | 11 . . g.29686
GAACCTATTGATTTTCCAATTGCTCCTGTATATGCTGCATCTATG | GTTCTTAAAGATGTG c.1020
E P I D F P I A P V Y A A S M | V L K D V p.340
. . . . . . g.29746
GGATTGAAAAAAGAAGATATTGCAATGTGGGAAGTAAATGAAGCCTTTAGTCTGGTTGTA c.1080
G L K K E D I A M W E V N E A F S L V V p.360
. . . . . . g.29806
CTAGCAAACATTAAAATGTTGGAGATTGATCCCCAAAAAGTGAATATCAATGGAGGAGCT c.1140
L A N I K M L E I D P Q K V N I N G G A p.380
. . | 12 . . . . g.30776
GTTTCTCTGGGACATCCAATTGG | GATGTCTGGAGCCAGGATTGTTGGTCATTTGACTCAT c.1200
V S L G H P I G | M S G A R I V G H L T H p.400
. . . . . . g.30836
GCCTTGAAGCAAGGAGAATACGGTCTTGCCAGTATTTGCAATGGAGGAGGAGGTGCTTCT c.1260
A L K Q G E Y G L A S I C N G G G G A S p.420
. . g.30860
GCCATGCTAATTCAGAAGCTGTAG c.1284
A M L I Q K L X p.427
. . . . . . g.30920
acaacctctgctatttaaggagacaaccctatgtgaccagaaggcctgctgtaatcagtg c.*60
. . . . . . g.30980
tgactactgtgggtcagcttatattcagataagctgtttcattttttattattttctatg c.*120
. . . . . . g.31040
ttaacttttaaaaatcaaaatgatgaaatcccaaaacattttgaaattaaaaataaattt c.*180
. . . . . . g.31100
cttcttctgcttttttcttggtaaccttgaaaagtttgatacatttttgcattctgagtc c.*240
. . . . . . g.31160
tatacttatcgaaatatggtagaaataccaatgtgtaatattagtgacttacataagtag c.*300
. . . . . . g.31220
ctagaagtttccatttgtgagaacacatttatatttttgaggattgttaaaggtcaagtg c.*360
. . . . . . g.31280
aatgctctttataggtaatttacatttagtaaattacggtaaattaaattacttctcttt c.*420
. . . . . . g.31340
acagtaagagttggctattctggacaaactagcagtgcttcatataatcactcaaaccac c.*480
. . . . . . g.31400
agtgtgtgcagcagtactagaaacaagacagaagcccatgtcctcagggtctagagtggg c.*540
. . . . . . g.31460
ggcaatttcttataacctcaacattcagggttgggggaggtcaagcagaaaaccctggag c.*600
. . . . . . g.31520
tttgggctctgaattactatagcagcatagagagtgggaagggaggtagaaactgatatg c.*660
. . . . . . g.31580
ctgaatggatatataaaaaagggaacagatcaccacttccaatacacgacaatgcctgtt c.*720
. . . . . g.31638
cttaagcaggacagactgtaacagaagtatctcgcattgcattttatctgggaaaaaa c.*778
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 30b
©2004-2026 Leiden University Medical Center