(used for variant description)
(last modified July 12, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_020166.3 in the MCCC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering MCCC1 transcript NM_020166.3.
(upstream sequence)
. g.5017
atcagcccaaaggtagg c.-121
. . . . . . g.5077
ctcaggctccgacggtggccggcgggggtcacgaggcttcgtagtggaggaacgggtttg c.-61
. . . . . . g.5137
gcgtgtgggacgcagctgcctctgtactggggagtcacggagtggccgggctccagggac c.-1
. . . . . . g.5197
ATGGCGGCGGCCTCTGCGGTGTCGGTGCTGCTGGTGGCGGCGGAGAGGAACCGGTGGCAT c.60
M A A A S A V S V L L V A A E R N R W H p.20
. . | 02 . . . g.10003
CGTCTCCCGAGCCTGCTCCTGCCGCCGAG | GACATGGGTGTGGAGGCAAAGAACCATGAAG c.120
R L P S L L L P P R | T W V W R Q R T M K p.40
. | 03 . . . . . g.12076
TACACAACAGCCACAG | GAAGAAACATTACCAAGGTCCTCATTGCAAACAGAGGAGAAATT c.180
Y T T A T G | R N I T K V L I A N R G E I p.60
. . . . . . g.12136
GCCTGCAGGGTGATGCGCACAGCCAAAAAACTGGGTGTACAGACTGTGGCGGTTTATAGT c.240
A C R V M R T A K K L G V Q T V A V Y S p.80
. . . | 04 . . . g.17816
GAGGCTGACAGAAATTCCATGCATGTAGATATG | GCAGATGAAGCATATTCCATCGGCCCC c.300
E A D R N S M H V D M | A D E A Y S I G P p.100
. . . . . . g.17876
GCTCCCTCCCAGCAGAGCTACCTATCTATGGAGAAAATCATTCAAGTGGCCAAGACCTCT c.360
A P S Q Q S Y L S M E K I I Q V A K T S p.120
| 05 . . . . . g.32141
GCTGCACAG | GCTATCCATCCAGGATGCGGTTTTCTCTCAGAAAACATGGAATTTGCTGAA c.420
A A Q | A I H P G C G F L S E N M E F A E p.140
. . . . . . g.32201
CTTTGTAAGCAAGAAGGAATTATTTTTATAGGCCCTCCTCCATCTGCAATTAGAGACATG c.480
L C K Q E G I I F I G P P P S A I R D M p.160
. | 06 . . . . . g.33269
GGTATAAAGAG | CACATCCAAATCCATAATGGCTGCTGCTGGAGTACCTGTTGTGGAGGGT c.540
G I K S | T S K S I M A A A G V P V V E G p.180
. . . . . . g.33329
TATCATGGTGAGGACCAATCAGACCAGTGCCTGAAGGAACACGCCAGGAGAATTGGCTAT c.600
Y H G E D Q S D Q C L K E H A R R I G Y p.200
. . . | 07 . . g.33478
CCTGTCATGATTAAAGCCGTCCGGGGTGGAGGAGGAAAA | GGAATGAGGATTGTTAGATCA c.660
P V M I K A V R G G G G K | G M R I V R S p.220
. . . . . . g.33538
GAACAAGAATTTCAAGAACAGTTAGAGTCAGCACGGAGAGAAGCTAAGAAGTCTTTCAAT c.720
E Q E F Q E Q L E S A R R E A K K S F N p.240
. . . . | 08 . . g.47174
GATGATGCTATGCTGATCGAGAAGTTTGTAGACACACCGAG | GCATGTAGAAGTCCAGGTG c.780
D D A M L I E K F V D T P R | H V E V Q V p.260
. . . . . . g.47234
TTTGGTGATCACCATGGCAATGCTGTGTACTTGTTTGAAAGAGACTGTAGTGTGCAGAGG c.840
F G D H H G N A V Y L F E R D C S V Q R p.280
. . . | 09 . . . g.52364
CGACATCAGAAGATCATTGAGGAGGCCCCAGCG | CCTGGTATTAAATCTGAAGTAAGAAAA c.900
R H Q K I I E E A P A | P G I K S E V R K p.300
. . . . . | 10 . g.59042
AAGCTGGGAGAAGCTGCAGTCAGAGCTGCTAAAGCTGTAAATTATGTTGGAGCAG | GGACT c.960
K L G E A A V R A A K A V N Y V G A G | T p.320
. . . . . . g.59102
GTGGAGTTTATTATGGACTCAAAACATAATTTCTGTTTCATGGAGATGAATACAAGGCTG c.1020
V E F I M D S K H N F C F M E M N T R L p.340
. . . . . . g.59162
CAAGTGGAACATCCTGTTACTGAGATGATCACAGGAACTGACTTGGTGGAGTGGCAGCTT c.1080
Q V E H P V T E M I T G T D L V E W Q L p.360
| 11 . . . . . . g.62884
AGA | ATTGCAGCAGGAGAGAAGATTCCTTTGAGCCAGGAAGAAATAACTCTGCAGGGCCAT c.1140
R | I A A G E K I P L S Q E E I T L Q G H p.380
. . . . . . g.62944
GCCTTCGAAGCTAGAATATATGCAGAAGATCCTAGCAATAACTTCATGCCTGTGGCAGGC c.1200
A F E A R I Y A E D P S N N F M P V A G p.400
. . . . . . g.63004
CCATTAGTGCACCTCTCTACTCCTCGAGCAGACCCTTCCACCAGGATTGAAACTGGAGTA c.1260
P L V H L S T P R A D P S T R I E T G V p.420
| 12. . . . . . g.65495
CGGCAAG | GAGACGAAGTTTCCGTGCATTATGACCCCATGATTGCGAAGCTGGTCGTGTGG c.1320
R Q G | D E V S V H Y D P M I A K L V V W p.440
. . . . . | 13. g.67146
GCAGCAGATCGCCAGGCGGCATTGACAAAACTGAGGTACAGCCTTCGTCAGTACAAT | ATT c.1380
A A D R Q A A L T K L R Y S L R Q Y N | I p.460
. . . . . . g.67206
GTTGGACTGCACACCAACATTGACTTCTTACTCAACCTGTCTGGCCACCCAGAGTTTGAA c.1440
V G L H T N I D F L L N L S G H P E F E p.480
. . . . . . g.67266
GCTGGGAACGTGCACACTGATTTCATCCCTCAACACCACAAACAGTTGTTGCTCAGTCGG c.1500
A G N V H T D F I P Q H H K Q L L L S R p.500
. . . . . . g.67326
AAGGCTGCAGCCAAAGAGTCTTTATGCCAGGCAGCCCTGGGTCTCATCCTCAAGGAGAAA c.1560
K A A A K E S L C Q A A L G L I L K E K p.520
. . . | 14 . . . g.70526
GCCATGACCGACACTTTCACTCTTCAGGCACATG | ATCAATTCTCTCCATTTTCGTCTAGC c.1620
A M T D T F T L Q A H D | Q F S P F S S S p.540
. . . . . . g.70586
AGTGGAAGAAGACTGAATATCTCGTATACCAGAAACATGACTCTTAAAGATGGTAAAAAC c.1680
S G R R L N I S Y T R N M T L K D G K N p.560
| 15 . . . . . | 16 . g.82032
A | ATGTAGCCATAGCTGTAACGTATAACCATGATGGGTCTTATAGCATGCAG | ATTGAAGAT c.1740
N | V A I A V T Y N H D G S Y S M Q | I E D p.580
. . . . . . g.82092
AAAACTTTCCAAGTCCTTGGTAATCTTTACAGCGAGGGAGACTGCACTTACCTGAAATGT c.1800
K T F Q V L G N L Y S E G D C T Y L K C p.600
. . . . . . g.82152
TCTGTTAATGGAGTTGCTAGTAAAGCGAAGCTGATTATCCTGGAAAACACTATTTACCTA c.1860
S V N G V A S K A K L I I L E N T I Y L p.620
| 17 . . . . . g.84391
TTTTCCAAG | GAAGGAAGTATTGAGATTGACATTCCAGTCCCCAAATACTTATCTTCTGTG c.1920
F S K | E G S I E I D I P V P K Y L S S V p.640
. . . . . | 18. g.87243
AGCTCACAAGAAACTCAGGGCGGCCCCTTAGCTCCTATGACTGGAACCATTGAAAAG | GTG c.1980
S S Q E T Q G G P L A P M T G T I E K | V p.660
. . . . . . g.87303
TTTGTCAAAGCTGGAGACAAAGTGAAAGCGGGAGATTCCCTCATGGTTATGATCGCCATG c.2040
F V K A G D K V K A G D S L M V M I A M p.680
| 19 . . . . . g.89062
AAGATGGAG | CATACCATAAAGTCTCCAAAGGATGGCACAGTAAAGAAAGTGTTCTACAGA c.2100
K M E | H T I K S P K D G T V K K V F Y R p.700
. . . . . . g.89122
GAAGGTGCTCAGGCCAACAGACACACTCCTTTAGTCGAGTTTGAGGAGGAAGAATCAGAC c.2160
E G A Q A N R H T P L V E F E E E E S D p.720
. g.89140
AAAAGGGAATCGGAATAA c.2178
K R E S E X p.725
. . . . . . g.89200
actccagcaaggaaatggccagttaagtagtgtcttctctctccaccaaaaagaggaagt c.*60
. . . . . . g.89260
gcctccagcttttctgggggtctcataaagagcagttttactaaatgattgtatgcttat c.*120
. . . . . . g.89320
gctgaacacctttcatattggagaatcatgcatttgggtcactaattatctcaaaatatt c.*180
. . . . g.89360
tcatactaataaagttgaattattttttattggaagccaa c.*220
(downstream sequence)
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