(used for variant description)
(last modified November 14, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_001876.3 in the CPT1A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering CPT1A transcript NM_001876.3.
(upstream sequence)
. . . . . g.5050
ggacccgcctcagccaatccgctgctgccggcgtcgggtgcgctcggcct c.-121
. . . . . . g.5110
cgcccgcggccctccttccccggctcccgctcgccgctcgttcactccaccgccgccgcc c.-61
. . . . . | 02 . g.31457
gccgccgccgctgccgctgccgctgccgcacctccgtagctgactcg | gtactctctgaag c.-1
. . . . . . g.31517
ATGGCAGAAGCTCACCAAGCTGTGGCCTTTCAGTTCACGGTCACTCCGGACGGGATTGAC c.60
M A E A H Q A V A F Q F T V T P D G I D p.20
. . . . . . g.31577
CTGCGGCTGAGCCATGAAGCTCTTAGACAAATCTATCTCTCTGGACTTCATTCCTGGAAA c.120
L R L S H E A L R Q I Y L S G L H S W K p.40
. . | 03 . . . . g.34394
AAGAAGTTCATCAGATTCAAG | AACGGCATCATCACTGGCGTGTACCCGGCAAGCCCCTCC c.180
K K F I R F K | N G I I T G V Y P A S P S p.60
. . . . . . g.34454
AGTTGGCTTATCGTGGTGGTGGGCGTGATGACAACGATGTACGCCAAGATCGACCCCTCG c.240
S W L I V V V G V M T T M Y A K I D P S p.80
. . . . | 04 . . g.39312
TTAGGAATAATTGCAAAAATCAATCGGACTCTGGAAACGGC | CAACTGCATGTCCAGCCAG c.300
L G I I A K I N R T L E T A | N C M S S Q p.100
. . . . . . g.39372
ACGAAGAACGTGGTCAGCGGCGTGCTGTTTGGCACCGGCCTGTGGGTGGCCCTCATCGTC c.360
T K N V V S G V L F G T G L W V A L I V p.120
. . . . . . g.39432
ACCATGCGCTACTCCCTGAAAGTGCTGCTCTCCTACCACGGGTGGATGTTCACTGAGCAC c.420
T M R Y S L K V L L S Y H G W M F T E H p.140
. . . | 05 . . . g.42857
GGCAAGATGAGTCGTGCCACCAAGATCTGGATG | GGTATGGTCAAGATCTTTTCAGGCCGA c.480
G K M S R A T K I W M | G M V K I F S G R p.160
. . . . . . g.42917
AAACCCATGTTGTACAGCTTCCAGACATCGCTGCCTCGCCTGCCGGTCCCGGCTGTCAAA c.540
K P M L Y S F Q T S L P R L P V P A V K p.180
. | 06 . . . . . g.47621
GACACTGTGAACAGG | TATCTACAGTCGGTGAGGCCTCTTATGAAGGAAGAAGACTTCAAA c.600
D T V N R | Y L Q S V R P L M K E E D F K p.200
. . . . . . g.47681
CGGATGACAGCACTTGCTCAAGATTTTGCTGTCGGTCTTGGACCAAGATTACAGTGGTAT c.660
R M T A L A Q D F A V G L G P R L Q W Y p.220
. . . | 07 . . . g.50025
TTGAAGTTAAAATCCTGGTGGGCTACAAATTAC | GTGAGCGACTGGTGGGAGGAGTACATC c.720
L K L K S W W A T N Y | V S D W W E E Y I p.240
. . . . . | 08 . g.52029
TACCTCCGAGGACGAGGGCCGCTCATGGTGAACAGCAACTATTATGCCATG | GATCTGCTG c.780
Y L R G R G P L M V N S N Y Y A M | D L L p.260
. . . . . . g.52089
TATATCCTTCCAACTCACATTCAGGCAGCAAGAGCCGGCAACGCCATCCATGCCATCCTG c.840
Y I L P T H I Q A A R A G N A I H A I L p.280
. . . | 09 . . g.53550
CTTTACAGGCGCAAACTGGACCGGGAGGAAATCAAACCA | ATTCGTCTTTTGGGATCCACG c.900
L Y R R K L D R E E I K P | I R L L G S T p.300
. . . . . . g.53610
ATTCCACTCTGCTCCGCTCAGTGGGAGCGGATGTTTAATACTTCCCGGATCCCAGGAGAG c.960
I P L C S A Q W E R M F N T S R I P G E p.320
| 10. . . . . . g.61974
GAGACAG | ACACCATCCAGCACATGAGAGACAGCAAGCACATCGTCGTGTACCATCGAGGA c.1020
E T D | T I Q H M R D S K H I V V Y H R G p.340
. . . . . . g.62034
CGCTACTTCAAGGTCTGGCTCTACCATGATGGGCGGCTGCTGAAGCCCCGGGAGATGGAG c.1080
R Y F K V W L Y H D G R L L K P R E M E p.360
. . . . . . g.62094
CAGCAGATGCAGAGGATCCTGGACAATACCTCGGAGCCTCAGCCCGGGGAGGCCAGGCTG c.1140
Q Q M Q R I L D N T S E P Q P G E A R L p.380
. . | 11 . . . . g.65009
GCAGCCCTCACCGCAGGAGACAG | AGTTCCCTGGGCCAGGTGTCGTCAGGCCTATTTTGGA c.1200
A A L T A G D R | V P W A R C R Q A Y F G p.400
. . . . . . g.65069
CGTGGGAAAAATAAGCAGTCTCTTGATGCTGTGGAGAAAGCAGCGTTCTTTGTGACGTTA c.1260
R G K N K Q S L D A V E K A A F F V T L p.420
. . . . . . g.65129
GATGAAACTGAAGAAGGATACAGAAGTGAAGACCCGGATACGTCAATGGACAGCTACGCC c.1320
D E T E E G Y R S E D P D T S M D S Y A p.440
. . . | 12 . . . g.66214
AAATCTCTACTACACGGCCGATGTTACGACAG | GTGGTTTGACAAGTCGTTCACGTTTGTT c.1380
K S L L H G R C Y D R | W F D K S F T F V p.460
. . . . . . g.66274
GTCTTCAAAAACGGGAAGATGGGCCTCAACGCTGAACACTCCTGGGCAGATGCGCCGATC c.1440
V F K N G K M G L N A E H S W A D A P I p.480
. | 13 . . . . g.71541
GTGGCCCACCTTTGGGAG | TACGTCATGTCCATTGACAGCCTCCAGCTGGGCTATGCGGAG c.1500
V A H L W E | Y V M S I D S L Q L G Y A E p.500
. . . . . . g.71601
GATGGGCACTGCAAAGGCGACATCAATCCGAACATTCCGTACCCCACCAGGCTGCAGTGG c.1560
D G H C K G D I N P N I P Y P T R L Q W p.520
. | 14 . . . . . g.73547
GACATCCCGGGGGAA | TGTCAAGAGGTTATAGAGACCTCCCTGAACACCGCAAATCTTCTG c.1620
D I P G E | C Q E V I E T S L N T A N L L p.540
. . . . . . g.73607
GCAAACGACGTGGATTTCCATTCCTTCCCATTCGTAGCCTTTGGTAAAGGAATCATCAAG c.1680
A N D V D F H S F P F V A F G K G I I K p.560
. . . . . . g.73667
AAATGTCGCACGAGCCCAGACGCCTTTGTGCAGCTGGCCCTCCAGCTGGCGCACTACAAG c.1740
K C R T S P D A F V Q L A L Q L A H Y K p.580
| 15 . . . . . . g.84230
| GACATGGGCAAGTTTTGCCTCACATACGAGGCCTCCATGACCCGGCTCTTCCGAGAGGGG c.1800
| D M G K F C L T Y E A S M T R L F R E G p.600
. . . . . . g.84290
AGGACGGAGACCGTGCGCTCCTGCACCACTGAGTCATGCGACTTCGTGCGGGCCATGGTG c.1860
R T E T V R S C T T E S C D F V R A M V p.620
. | 16 . . . . . g.85289
GACCCGGCCCAGACG | GTGGAACAGAGGCTGAAGTTGTTCAAGTTGGCGTCTGAGAAGCAT c.1920
D P A Q T | V E Q R L K L F K L A S E K H p.640
. . . . . . g.85349
CAGCATATGTATCGCCTCGCCATGACCGGCTCTGGGATCGATCGTCACCTCTTCTGCCTT c.1980
Q H M Y R L A M T G S G I D R H L F C L p.660
. . . . | 17 . g.86605
TACGTGGTGTCTAAATATCTCGCTGTGGAGTCCCCTTTCCTTAAGGAA | GTTTTATCTGAG c.2040
Y V V S K Y L A V E S P F L K E | V L S E p.680
. . . . . . g.86665
CCTTGGAGATTATCAACAAGCCAGACCCCTCAGCAGCAAGTGGAGCTGTTTGACTTGGAG c.2100
P W R L S T S Q T P Q Q Q V E L F D L E p.700
. . . . | 18 . . g.87288
AATAACCCAGAGTACGTGTCCAGCGGAGGGGGCTTTGGACCG | GTTGCTGATGACGGCTAT c.2160
N N P E Y V S S G G G F G P | V A D D G Y p.720
. . . . . . g.87348
GGTGTGTCGTACATCCTTGTGGGAGAGAACCTCATCAATTTCCACATTTCTTCCAAGTTC c.2220
G V S Y I L V G E N L I N F H I S S K F p.740
. | 19 . . . . . g.89246
TCTTGCCCTGAGACG | GATTCTCATCGCTTTGGAAGGCACCTGAAAGAAGCAATGACTGAC c.2280
S C P E T | D S H R F G R H L K E A M T D p.760
. . . . g.89288
ATCATCACTTTGTTTGGTCTCAGTTCTAATTCCAAAAAGTAA c.2322
I I T L F G L S S N S K K X p.773
. . . . . . g.89348
ttccactggagctgctgggaaggaaaacgagctcttctgatgcaaaccaaatgaaaaata c.*60
. . . . . . g.89408
ggcattaatcctgaccttagctcgggatgaaacactgctcttaaaaaaactcagttttcc c.*120
. . . . . . g.89468
ttccagaaaatgtgggtgtttttttttcctagaacagtatctctcccctgtgaagcataa c.*180
. . . . . . g.89528
ccccactacttccagacttgccctcccttgggggacatctgataaagtctcccctgatgt c.*240
. . . . . . g.89588
ctccgcatcggcttggatttattaagggatgcaaatcttgttgagttaatgaaggaatta c.*300
. . . . . . g.89648
gtagggttgtggcttcacacacagtggaatggaaatggtgtgctttctcagtggcaaccg c.*360
. . . . . . g.89708
aaggcctagtgcttaagggcatttagcatcatccaagcagggtaaacttttgttttgtta c.*420
. . . . . . g.89768
aaagaaaaatgtgttattcaagttggtgtccccagttgtagctaacacatctggaatgca c.*480
. . . . . . g.89828
ctaaccaaaatgctgtgctttggagacctgcttttgtcaccgtgggtaaccgttcccgtc c.*540
. . . . . . g.89888
tggtccagtagcctgtgtttgcctctccacatttgaagcaagcaggatgcaaggtcttca c.*600
. . . . . . g.89948
gttttactgaccttgtatgtcttcaagtcttcacaacccagtgccttaaaaatgaaaggc c.*660
. . . . . . g.90008
cctaaatgtaagggagatggagagaaagatttattttgtagagtctttgggtggaattgt c.*720
. . . . . . g.90068
gggtatactgttcccttcacaattgactgagtatggataaccgtacataagcatttgcta c.*780
. . . . . . g.90128
caccccaccagccccctccccctcagaaacaccagttccttcccaagggcagctgtgcca c.*840
. . . . . . g.90188
gactcccctcccgggactgccttcttgtcatcataagcaacaaaagaaataacaggcaca c.*900
. . . . . . g.90248
tgtcataaaaggggagcaagggccgtgatggtcagataattcactcaagaataaaacatg c.*960
. . . . . . g.90308
acacgtgcctcaggaggatctctttcccaaagtgacagcaaggagggcagggcatcggcc c.*1020
. . . . . . g.90368
accaagcggggactagcaagtgaggaaggggagggcagcccaccgtggtgaggagagagt c.*1080
. . . . . . g.90428
ggctccacgaccccaagggatggccttctcctcccacccggtgaggggaaagactcacca c.*1140
. . . . . . g.90488
gagggtgatggagacagtatgccggctcaccttggtgaccagccaagatgtctcaagtga c.*1200
. . . . . . g.90548
cagtgctaggtgttcacccagcctgtccttcagataggagtgccttcacgaaagcgtctc c.*1260
. . . . . . g.90608
atggaccacaaagcaattatgcactgagtcatcttcagtatttaatgcaaaaatgaagca c.*1320
. . . . . . g.90668
tcatggaatgaaattcccactgtctgtcatgacaagcttagctgtccattgttttaaatt c.*1380
. . . . . . g.90728
gtgtatttatttttttgaccacttggttctagttgggcctgactccttcagagtgctgca c.*1440
. . . . . . g.90788
ccccgatagtacaacagcgatggctgaactgttggagtcgatggaaggtgcttgccggag c.*1500
. . . . . . g.90848
aacacgtgcctttttttttttttttttttttgagatggagtttcactcttgttgcccagg c.*1560
. . . . . . g.90908
ctggagtgcagtggtgcaatctcggctcactgcagcatctgccttgcaggttcaagcgat c.*1620
. . . . . . g.90968
tctcctgtctcagcctcccaagtagctgggattacacgcccaacaccatgccctgctaat c.*1680
. . . . . . g.91028
ttttgtatttttagtagagacggggtttcatcatattggtcaggctggtctcgaactcct c.*1740
. . . . . . g.91088
gacctcaggtgatccacctgcctcagcctcccaaagtgctgggattacaggcatgagcca c.*1800
. . . . . . g.91148
ccatgcgcggcccacatgcatgttttatgtatgtatacttcatgatgtaaaaatcccacc c.*1860
. . . . . . g.91208
tttatgggccaaagattttttttctcctgaaagcaagaaaaaatgaaaacaaaagacaaa c.*1920
. . . . . . g.91268
aaaaaaaaaaaaagcgtccaggcgcggtggctcatgcgtgtaatcccagcactttgggag c.*1980
. . . . . . g.91328
gccaaggcgggcggatcacgaggtcaggagatggagaccatcctggctaacacggtgaaa c.*2040
. . . . . . g.91388
ccccgtctctactaaaaattcaaaaaatgagccgggcgtggtggcgggcgcctgtagtcc c.*2100
. . . . . . g.91448
cagctactcaggaggctgaggcaggagaatggcgtgaacccgggaggcggagcttgcagt c.*2160
. . . . . . g.91508
gagccgagatcgctccactgcactccagcctgggcgacagagcgagactccgtctaaaaa c.*2220
. . . . . . g.91568
aaaaagcaaaaacaaaccaacaacaaaagcccctgactgtccgtcaagcaggcagcgggg c.*2280
. . . . . . g.91628
atgtagctctctctgccctgggcaagaatagcacttcccgttaaaagccagcagccggcg c.*2340
. . . . . . g.91688
tcagtccctatcagagccagctagatcatgcactgttgaccactgagcaatctgtgttac c.*2400
. . . . . . g.91748
actagagttcacagggcattttgagtgtagacgtgagtgcttaaacatatttgggtttct c.*2460
. . . . . . g.91808
ctctcaggttttaaatgtttcaaatgtaattgttgctcatcagtgcagttatcaatgcaa c.*2520
. . . . . . g.91868
ttttatattccttgaggggagaaagaggggtcttattgtacatgtccaaggggggtgata c.*2580
. . . . . . g.91928
agagtattatctgtttaatttaattggaacaaaccattgtcttaacgcagccatggtttg c.*2640
. . . . . . g.91988
aatttgttatcttgggctgaccggtgcatgtaaatacagtatgctctttggatgtaaatc c.*2700
. . . . . . g.92048
ttagaaatgcagtgtgaatgtaggttatcattaataaaacattaaccccagtctactaca c.*2760
g.92049
a c.*2761
(downstream sequence)
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