(used for variant description)
(last modified May 25, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_001875.4 in the CPS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering CPS1 transcript NM_001875.4.
(upstream sequence)
. g.83932
aaagatcgctgtgca c.-121
. . . . . . g.83992
gtcagccttaaacactgactgcacccctcccagatttcttttacattaactaaaaagtct c.-61
. . . . . . g.84052
tatcacacaatctcataaaatttatgtaatttcatttaattttagccacaaatcatcaaa c.-1
. . . . . . g.84112
ATGACGAGGATTTTGACAGCTTTCAAAGTGGTGAGGACACTGAAGACTGGTTTTGGCTTT c.60
M T R I L T A F K V V R T L K T G F G F p.20
. . . . . . g.84172
ACCAATGTGACTGCACACCAAAAATGGAAATTTTCAAGACCTGGCATCAGGCTCCTTTCT c.120
T N V T A H Q K W K F S R P G I R L L S p.40
| 02 . . . . . . g.100670
GTCAAG | GCACAGACAGCACACATTGTCCTGGAAGATGGAACTAAGATGAAAGGTTACTCC c.180
V K | A Q T A H I V L E D G T K M K G Y S p.60
. . . . . | 03 . g.103668
TTTGGCCATCCATCCTCTGTTGCTGGTGAAGTGGTTTTTAATACTGGCCTGGGAGG | GTAC c.240
F G H P S S V A G E V V F N T G L G G | Y p.80
. . . . . . g.103728
CCAGAAGCTATTACTGACCCTGCCTACAAAGGACAGATTCTCACAATGGCCAACCCTATT c.300
P E A I T D P A Y K G Q I L T M A N P I p.100
. . . . . . g.103788
ATTGGGAATGGTGGAGCTCCTGATACTACTGCTCTGGATGAACTGGGACTTAGCAAATAT c.360
I G N G G A P D T T A L D E L G L S K Y p.120
. . | 04 . . . . g.104778
TTGGAGTCTAATGGAATCAAG | GTTTCAGGTTTGCTGGTGCTGGATTATAGTAAAGACTAC c.420
L E S N G I K | V S G L L V L D Y S K D Y p.140
. . . . . | 05 . g.107041
AACCACTGGCTGGCTACCAAGAGTTTAGGGCAATGGCTACAGGAAGAAAAG | GTTCCTGCA c.480
N H W L A T K S L G Q W L Q E E K | V P A p.160
. . . . | 06 . g.109947
ATTTATGGAGTGGACACAAGAATGCTGACTAAAATAATTCGGGATAAG | GGTACCATGCTT c.540
I Y G V D T R M L T K I I R D K | G T M L p.180
. . . . . . g.110007
GGGAAGATTGAATTTGAAGGTCAGCCTGTGGATTTTGTGGATCCAAATAAACAGAATTTG c.600
G K I E F E G Q P V D F V D P N K Q N L p.200
. . | 07 . . . . g.115415
ATTGCTGAGGTTTCAACCAAG | GATGTCAAAGTGTACGGCAAAGGAAACCCCACAAAAGTG c.660
I A E V S T K | D V K V Y G K G N P T K V p.220
. . . . . | 08 . g.117433
GTAGCTGTAGACTGTGGGATTAAAAACAATGTAATCCGCCTGCTAGTAAAG | CGAGGAGCT c.720
V A V D C G I K N N V I R L L V K | R G A p.240
. . . . . . g.117493
GAAGTGCACTTAGTTCCCTGGAACCATGATTTCACCAAGATGGAGTATGATGGGATTTTG c.780
E V H L V P W N H D F T K M E Y D G I L p.260
. . . . . . g.117553
ATCGCGGGAGGACCGGGGAACCCAGCTCTTGCAGAACCACTAATTCAGAATGTCAGAAAG c.840
I A G G P G N P A L A E P L I Q N V R K p.280
| 09 . . . . . . g.118178
| ATTTTGGAGAGTGATCGCAAGGAGCCATTGTTTGGAATCAGTACAGGAAACTTAATAACA c.900
| I L E S D R K E P L F G I S T G N L I T p.300
. . . . | 10. . g.119162
GGATTGGCTGCTGGTGCCAAAACCTACAAGATGTCCATGGCCAACAG | AGGGCAGAATCAG c.960
G L A A G A K T Y K M S M A N R | G Q N Q p.320
. . . . . . g.119222
CCTGTTTTGAATATCACAAACAAACAGGCTTTCATTACTGCTCAGAATCATGGCTATGCC c.1020
P V L N I T N K Q A F I T A Q N H G Y A p.340
. . . . . . g.119282
TTGGACAACACCCTCCCTGCTGGCTGGAAACCACTTTTTGTGAATGTCAACGATCAAACA c.1080
L D N T L P A G W K P L F V N V N D Q T p.360
| 11 . . . . . . g.120251
AATGAG | GGGATTATGCATGAGAGCAAACCCTTCTTCGCTGTGCAGTTCCACCCAGAGGTC c.1140
N E | G I M H E S K P F F A V Q F H P E V p.380
. . | 12 . . . . g.121862
ACCCCGGGGCCAATAGACACTGAG | TACCTGTTTGATTCCTTTTTCTCACTGATAAAGAAA c.1200
T P G P I D T E | Y L F D S F F S L I K K p.400
. . . . . . g.121922
GGAAAAGCTACCACCATTACATCAGTCTTACCGAAGCCAGCACTAGTTGCATCTCGGGTT c.1260
G K A T T I T S V L P K P A L V A S R V p.420
| 13 . . . . . . g.122862
GAG | GTTTCCAAAGTCCTTATTCTAGGATCAGGAGGTCTGTCCATTGGTCAGGCTGGAGAA c.1320
E | V S K V L I L G S G G L S I G Q A G E p.440
. . . | 14 . . g.126711
TTTGATTACTCAGGATCTCAAGCTGTAAAAGCCATGAAG | GAAGAAAATGTCAAAACTGTT c.1380
F D Y S G S Q A V K A M K | E E N V K T V p.460
. . . . . . g.126771
CTGATGAACCCAAACATTGCATCAGTCCAGACCAATGAGGTGGGCTTAAAGCAAGCGGAT c.1440
L M N P N I A S V Q T N E V G L K Q A D p.480
. . . . . . g.126831
ACTGTCTACTTTCTTCCCATCACCCCTCAGTTTGTCACAGAGGTCATCAAGGCAGAACAG c.1500
T V Y F L P I T P Q F V T E V I K A E Q p.500
. . . . | 15 . g.127884
CCAGATGGGTTAATTCTGGGCATGGGTGGCCAGACAGCTCTGAACTGTG | GAGTGGAACTA c.1560
P D G L I L G M G G Q T A L N C G | V E L p.520
. . . . . . g.127944
TTCAAGAGAGGTGTGCTCAAGGAATATGGTGTGAAAGTCCTGGGAACTTCAGTTGAGTCC c.1620
F K R G V L K E Y G V K V L G T S V E S p.540
. . . . . . g.128004
ATTATGGCTACGGAAGACAGGCAGCTGTTTTCAGATAAACTAAATGAGATCAATGAAAAG c.1680
I M A T E D R Q L F S D K L N E I N E K p.560
. . | 16. . . . g.129553
ATTGCTCCAAGTTTTGCAGTGGAATCG | ATTGAGGATGCACTGAAGGCAGCAGACACCATT c.1740
I A P S F A V E S | I E D A L K A A D T I p.580
. . . . . . g.129613
GGCTACCCAGTGATGATCCGTTCCGCCTATGCACTGGGTGGGTTAGGCTCAGGCATCTGT c.1800
G Y P V M I R S A Y A L G G L G S G I C p.600
. . . | 17 . . . g.132444
CCCAACAGAGAGACTTTGATGGACCTCAGCACAAAG | GCCTTTGCTATGACCAACCAAATT c.1860
P N R E T L M D L S T K | A F A M T N Q I p.620
. . . . . . g.132504
CTGGTGGAGAAGTCAGTGACAGGTTGGAAAGAAATAGAATATGAAGTGGTTCGAGATGCT c.1920
L V E K S V T G W K E I E Y E V V R D A p.640
. . . . . . g.132564
GATGACAATTGTGTCACTGTCTGTAACATGGAAAATGTTGATGCCATGGGTGTTCACACA c.1980
D D N C V T V C N M E N V D A M G V H T p.660
| 18 . . . . . . g.134108
G | GTGACTCAGTTGTTGTGGCTCCTGCCCAGACACTCTCCAATGCCGAGTTTCAGATGTTG c.2040
G | D S V V V A P A Q T L S N A E F Q M L p.680
. . . . . . g.134168
AGACGTACTTCAATCAATGTTGTTCGCCACTTGGGCATTGTGGGTGAATGCAACATTCAG c.2100
R R T S I N V V R H L G I V G E C N I Q p.700
. . . . . . g.134228
TTTGCCCTTCATCCTACCTCAATGGAATACTGCATCATTGAAGTGAATGCCAGACTGTCC c.2160
F A L H P T S M E Y C I I E V N A R L S p.720
. . . | 19 . . . g.135707
CGAAGCTCTGCTCTGGCCTCAAAAGCCACTGG | CTACCCATTGGCATTCATTGCTGCAAAG c.2220
R S S A L A S K A T G | Y P L A F I A A K p.740
. . . . . . g.135767
ATTGCCCTAGGAATCCCACTTCCAGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCC c.2280
I A L G I P L P E I K N V V S G K T S A p.760
. . . . . . g.135827
TGTTTTGAACCTAGCCTGGATTACATGGTCACCAAGATTCCCCGCTGGGATCTTGACCGT c.2340
C F E P S L D Y M V T K I P R W D L D R p.780
. . . . . | 20 . g.139444
TTTCATGGAACATCTAGCCGAATTGGTAGCTCTATGAAAAGTGTAGGAGAG | GTCATGGCT c.2400
F H G T S S R I G S S M K S V G E | V M A p.800
. . . . . . g.139504
ATTGGTCGTACCTTTGAGGAGAGTTTCCAGAAAGCTTTACGGATGTGCCACCCATCTATA c.2460
I G R T F E E S F Q K A L R M C H P S I p.820
. . . . . . g.139564
GAAGGTTTCACTCCCCGTCTCCCAATGAACAAAGAATGGCCATCTAATTTAGATCTTAGA c.2520
E G F T P R L P M N K E W P S N L D L R p.840
. . . . | 21 . g.143753
AAAGAGTTGTCTGAACCAAGCAGCACGCGTATCTATGCCATTGCCAAG | GCCATTGATGAC c.2580
K E L S E P S S T R I Y A I A K | A I D D p.860
. . . . . . g.143813
AACATGTCCCTTGATGAGATTGAGAAGCTCACATACATTGACAAGTGGTTTTTGTATAAG c.2640
N M S L D E I E K L T Y I D K W F L Y K p.880
. . . . | 22. . g.165033
ATGCGTGATATTTTAAACATGGAAAAGACACTGAAAGGCCTCAACAG | TGAGTCCATGACA c.2700
M R D I L N M E K T L K G L N S | E S M T p.900
. . . . . . g.165093
GAAGAAACCCTGAAAAGGGCAAAGGAGATTGGGTTCTCAGATAAGCAGATTTCAAAATGC c.2760
E E T L K R A K E I G F S D K Q I S K C p.920
. . . . . . g.165153
CTTGGGCTCACTGAGGCCCAGACAAGGGAGCTGAGGTTAAAGAAAAACATCCACCCTTGG c.2820
L G L T E A Q T R E L R L K K N I H P W p.940
| 23 . . . . . g.166519
GTTAAACAG | ATTGATACACTGGCTGCAGAATACCCATCAGTAACAAACTATCTCTATGTT c.2880
V K Q | I D T L A A E Y P S V T N Y L Y V p.960
. | 24 . . . . . g.167359
ACCTACAATGGTCAG | GAGCATGATGTCAATTTTGATGACCATGGAATGATGGTGCTAGGC c.2940
T Y N G Q | E H D V N F D D H G M M V L G p.980
. | 25 . . . . g.169843
TGTGGTCCATATCACATTG | GCAGCAGTGTGGAATTTGATTGGTGTGCTGTCTCTAGTATC c.3000
C G P Y H I G | S S V E F D W C A V S S I p.1000
. . . . . . g.169903
CGCACACTGCGTCAACTTGGCAAGAAGACGGTGGTGGTGAATTGCAATCCTGAGACTGTG c.3060
R T L R Q L G K K T V V V N C N P E T V p.1020
. . . . . . g.169963
AGCACAGACTTTGATGAGTGTGACAAACTGTACTTTGAAGAGTTGTCCTTGGAGAGAATC c.3120
S T D F D E C D K L Y F E E L S L E R I p.1040
. . | 26 . . . . g.175220
CTAGACATCTACCATCAGGAG | GCATGTGGTGGCTGCATCATATCAGTTGGAGGCCAGATT c.3180
L D I Y H Q E | A C G G C I I S V G G Q I p.1060
. . . . . . g.175280
CCAAACAACCTGGCAGTTCCTCTATACAAGAATGGTGTCAAGATCATGGGCACAAGCCCC c.3240
P N N L A V P L Y K N G V K I M G T S P p.1080
. . . . . . g.175340
CTGCAGATCGACAGGGCTGAGGATCGCTCCATCTTCTCAGCTGTCTTGGATGAGCTGAAG c.3300
L Q I D R A E D R S I F S A V L D E L K p.1100
. . . | 27 . . . g.175815
GTGGCTCAGGCACCTTGGAAAGCTGTTAATACTTTG | AATGAAGCACTGGAATTTGCAAAG c.3360
V A Q A P W K A V N T L | N E A L E F A K p.1120
. . . . | 28 . . g.177697
TCTGTGGACTACCCCTGCTTGTTGAGGCCTTCCTATGTTTTGAG | TGGGTCTGCTATGAAT c.3420
S V D Y P C L L R P S Y V L S | G S A M N p.1140
. . . . . . g.177757
GTGGTATTCTCTGAGGATGAGATGAAAAAATTCCTAGAAGAGGCGACTAGAGTTTCTCAG c.3480
V V F S E D E M K K F L E E A T R V S Q p.1160
| 29 . . . . . . g.181403
| GAGCACCCAGTGGTGCTGACAAAATTTGTTGAAGGGGCCCGAGAAGTAGAAATGGACGCT c.3540
| E H P V V L T K F V E G A R E V E M D A p.1180
. | 30 . . . . g.183885
GTTGGCAAAGATGGAAGG | GTTATCTCTCATGCCATCTCTGAACATGTTGAAGATGCAGGT c.3600
V G K D G R | V I S H A I S E H V E D A G p.1200
. . . . . . g.183945
GTCCACTCGGGAGATGCCACTCTGATGCTGCCCACACAAACCATCAGCCAAGGGGCCATT c.3660
V H S G D A T L M L P T Q T I S Q G A I p.1220
| 31 . . . . . . g.185971
GAAAAG | GTGAAGGATGCTACCCGGAAGATTGCAAAGGCTTTTGCCATCTCTGGTCCATTC c.3720
E K | V K D A T R K I A K A F A I S G P F p.1240
. . . | 32 . . . g.187827
AACGTCCAATTTCTTGTCAAAGGAAATGATGTCTTG | GTGATTGAGTGTAACTTGAGAGCT c.3780
N V Q F L V K G N D V L | V I E C N L R A p.1260
. . . . . . g.187887
TCTCGATCCTTCCCCTTTGTTTCCAAGACTCTTGGGGTTGACTTCATTGATGTGGCCACC c.3840
S R S F P F V S K T L G V D F I D V A T p.1280
. . . . . . g.187947
AAGGTGATGATTGGAGAGAATGTTGATGAGAAACATCTTCCAACATTGGACCATCCCATA c.3900
K V M I G E N V D E K H L P T L D H P I p.1300
. . | 33. . . . g.190474
ATTCCTGCTGACTATGTTGCAATTAAG | GCTCCCATGTTTTCCTGGCCCCGGTTGAGGGAT c.3960
I P A D Y V A I K | A P M F S W P R L R D p.1320
. . . . | 34 . . g.195522
GCTGACCCCATTCTGAGATGTGAGATGGCTTCCACTGGAGAG | GTGGCTTGCTTTGGTGAA c.4020
A D P I L R C E M A S T G E | V A C F G E p.1340
. . . . . . g.195582
GGTATTCATACAGCCTTCCTAAAGGCAATGCTTTCCACAGGATTTAAGATACCCCAGAAA c.4080
G I H T A F L K A M L S T G F K I P Q K p.1360
. . | 35 . . . . g.202259
GGCATCCTGATAGGCATCCAG | CAATCATTCCGGCCAAGATTCCTTGGTGTGGCTGAACAA c.4140
G I L I G I Q | Q S F R P R F L G V A E Q p.1380
. . | 36 . . . . g.203085
TTACACAATGAAGGTTTCAAG | CTGTTTGCCACGGAAGCCACATCAGACTGGCTCAACGCC c.4200
L H N E G F K | L F A T E A T S D W L N A p.1400
. . . . . . g.203145
AACAATGTCCCTGCCACCCCAGTGGCATGGCCGTCTCAAGAAGGACAGAATCCCAGCCTC c.4260
N N V P A T P V A W P S Q E G Q N P S L p.1420
. | 37 . . . . . g.204371
TCTTCCATCAGAAA | ATTGATTAGAGATGGCAGCATTGACCTAGTGATTAACCTTCCCAAC c.4320
S S I R K | L I R D G S I D L V I N L P N p.1440
. . . . . . g.204431
AACAACACTAAATTTGTCCATGATAATTATGTGATTCGGAGGACAGCTGTTGATAGTGGA c.4380
N N T K F V H D N Y V I R R T A V D S G p.1460
. . | 38 . . . . g.205241
ATCCCTCTCCTCACTAATTTTCAG | GTGACCAAACTTTTTGCTGAAGCTGTGCAGAAATCT c.4440
I P L L T N F Q | V T K L F A E A V Q K S p.1480
. . . . . . g.205301
CGCAAGGTGGACTCCAAGAGTCTTTTCCACTACAGGCAGTACAGTGCTGGAAAAGCAGCA c.4500
R K V D S K S L F H Y R Q Y S A G K A A p.1500
g.205304
TAG c.4503
X p.1500
. . . . . . g.205364
agatgcagacaccccagccccattattaaatcaacctgagccacatgttatctaaaggaa c.*60
. . . . . . g.205424
ctgattcacaactttctcagagatgaatattgataactaaacttcatttcagtttacttt c.*120
. . . . . . g.205484
gttatgccttaatattctgtgtcttttgcaattaaattgtcagtcacttcttcaaaacct c.*180
. . . . . . g.205544
tacagtccttcctaagttactcttcatgagatttcatccatttactaatactgtattttt c.*240
. . . . . . g.205604
ggtggactaggcttgcctatgtgcttatgtgtagctttttactttttatggtgctgatta c.*300
. . . . . . g.205664
atggtgatcaaggtaggaaaagttgctgttctattttctgaactctttctatactttaag c.*360
. . . . . . g.205724
atactctatttttaaaacactatctgcaaactcaggacactttaacagggcagaatactc c.*420
. . . . . . g.205784
taaaaacttgataaaattaaatatagatttaatttatgaaccttccatcatgatgtttgt c.*480
. . . . . . g.205844
gtattgcttctttttggatcctcattctcacccatttggctaatccaggaatattgttat c.*540
. . . . . . g.205904
cccttcccattatattgaagttgagaaatgtgacagaggcatttagagtatggacttttc c.*600
. . . . . . g.205964
ttttctttttctttttctttttttctttttgagatggagtcacactctccaggctggagt c.*660
. . . . . . g.206024
gcagtggcacaatctcggctcactgcaatttccgtctcccaagttcaagcgattctcctg c.*720
. . . . . . g.206084
ctttagactatggatttctttaaggaatactggtttgcagttttgttttctggactatat c.*780
. . . . . . g.206144
cagcagatggtagacagtgtttatgtagatgtgttgttgtttttatcattggattttaac c.*840
. . . . . . g.206204
ttggcccgagtgaaataatcagatttttgtcattcacactctcccccagttttggaataa c.*900
. . . . . . g.206264
cttggaagtaaggttcattcccttaagacgatggattctgttgaactatggggtcccaca c.*960
. . . . . . g.206324
ctgcactattaattccacccactgtaagggcaaggacaccattccttctacatataagaa c.*1020
. . . . . . g.206384
aaaagtctctccccaagggcagcctttgttacttttaaatattttctgttattacaagtg c.*1080
. . . . g.206426
ctctaattgtgaacttttaaataaaatactattaagaggtaa c.*1122
(downstream sequence)
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