(used for variant description)
(last modified February 16, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_032485.5 in the MCM8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering MCM8 transcript NM_032485.5.
(upstream sequence)
. g.5017
ctttgagcggaagttgg c.-361
. . . . . . g.5077
atcactgaagcgccaaaaaagaatttaggggaagacctgattttcgcttgaggcattttt c.-301
. . . . . . g.5137
gcggcgctgtgcgctacagacaccttctggaagctgcggtggggaaactgagtttcccga c.-241
. . . . . . g.5197
gccgttgagacagatggggttcagcaccgcgcggggacgacaggaaagctgcggctgaag c.-181
. . . . . . g.5257
agaactgcggacttggcaggagtcgcctgaggagctaagatcccggagactcttagcccc c.-121
. . . . . . g.5317
gtggtgcttctctacgggagggagggagggagaatccggccggacagatctgcgcgtatc c.-61
. . . . . . | 02 g.6364
ctggagccggcccagttgtgaactaggagagctttgggacctctgtcccaagcaa | gagag c.-1
. . . . . . g.6424
ATGAATGGAGAGTATAGAGGCAGAGGATTTGGACGAGGAAGATTTCAAAGCTGGAAAAGG c.60
M N G E Y R G R G F G R G R F Q S W K R p.20
. . . . . . g.6484
GGAAGAGGTGGTGGGAACTTCTCAGGAAAATGGAGAGAAAGAGAACACAGACCTGATCTG c.120
G R G G G N F S G K W R E R E H R P D L p.40
. . | 03 . . . g.6804
AGTAAAACCACAGGAAAACGTACTTCTG | AACAAACCCCACAGTTTTTGCTTTCAACAAAG c.180
S K T T G K R T S E | Q T P Q F L L S T K p.60
. . . . . . g.6864
ACCCCACAGTCAATGCAGTCAACATTGGATCGATTCATACCATATAAAGGCTGGAAGCTT c.240
T P Q S M Q S T L D R F I P Y K G W K L p.80
. | 04 . . . . . g.9003
TATTTCTCTGAAG | TTTACAGCGATAGCTCTCCTTTGATTGAGAAGATTCAAGCATTTGAA c.300
Y F S E V | Y S D S S P L I E K I Q A F E p.100
. . . | 05 . . . g.9474
AAATTTTTCACAAGGCATATTGATTTGTATGACAAG | GATGAAATAGAAAGAAAGGGAAGT c.360
K F F T R H I D L Y D K | D E I E R K G S p.120
. . . . . . g.9534
ATTTTGGTAGATTTTAAAGAACTGACAGAAGGTGGTGAAGTAACTAACTTGATACCAGAT c.420
I L V D F K E L T E G G E V T N L I P D p.140
. . . . . . g.9594
ATAGCAACTGAACTAAGAGATGCACCTGAGAAAACCTTGGCTTGCATGGGTTTGGCAATA c.480
I A T E L R D A P E K T L A C M G L A I p.160
| 06 . . . . . . g.11528
CATCAG | GTGTTAACTAAGGACCTTGAAAGGCATGCAGCTGAGTTACAAGCCCAGGAAGGA c.540
H Q | V L T K D L E R H A A E L Q A Q E G p.180
. . . . . | 07 . g.12886
TTGTCTAATGATGGAGAAACAATGGTAAATGTGCCACATATTCATGCAAG | GGTGTACAAC c.600
L S N D G E T M V N V P H I H A R | V Y N p.200
. . . . . . g.12946
TATGAGCCTTTGACACAGCTCAAGAATGTCAGAGCAAATTACTATGGAAAATACATTGCT c.660
Y E P L T Q L K N V R A N Y Y G K Y I A p.220
. . . . . . g.13006
CTAAGAGGGACAGTGGTTCGTGTCAGTAATATAAAGCCTCTTTGCACCAAGATGGCTTTT c.720
L R G T V V R V S N I K P L C T K M A F p.240
. . . . . . g.13066
CTTTGTGCTGCATGTGGAGAAATTCAGAGCTTTCCTCTTCCAGATGGAAAATACAGTCTT c.780
L C A A C G E I Q S F P L P D G K Y S L p.260
| 08 . . . . . g.17673
CCCACAAAG | TGTCCTGTGCCTGTGTGTCGAGGCAGGTCATTTACTGCTCTCCGCAGCTCT c.840
P T K | C P V P V C R G R S F T A L R S S p.280
. . . | 09 . . . g.21809
CCTCTCACAGTTACGATGGACTGGCAGTCAATCAA | AATCCAGGAATTGATGTCTGATGAT c.900
P L T V T M D W Q S I K | I Q E L M S D D p.300
. . . . . . g.21869
CAGAGAGAAGCAGGTCGGATTCCACGAACAATAGAATGTGAGCTTGTTCATGATCTTGTG c.960
Q R E A G R I P R T I E C E L V H D L V p.320
. . . . . . g.21929
GATAGCTGTGTCCCGGGAGACACAGTGACTATTACTGGAATTGTCAAAGTCTCAAATGCG c.1020
D S C V P G D T V T I T G I V K V S N A p.340
| 10. . . . . . g.22231
GAAGAAG | GTTCTCGAAATAAGAATGACAAGTGTATGTTCCTTTTGTATATTGAAGCAAAT c.1080
E E G | S R N K N D K C M F L L Y I E A N p.360
. . . . . . g.22291
TCTATTAGTAATAGCAAAGGACAGAAAACAAAGAGTTCTGAGGATGGGTGTAAGCATGGA c.1140
S I S N S K G Q K T K S S E D G C K H G p.380
. . . . . . g.22351
ATGTTGATGGAGTTCTCACTTAAAGACCTTTATGCCATCCAAGAGATTCAAGCTGAAGAA c.1200
M L M E F S L K D L Y A I Q E I Q A E E p.400
. . | 11 . . . | 12 . g.27410
AACCTGTTTAAACTCATTGTCAA | CTCGCTTTGCCCTGTCATTTTTGGTCATGAA | CTTGTT c.1260
N L F K L I V N | S L C P V I F G H E | L V p.420
. . . . . . g.27470
AAAGCAGGTTTGGCATTAGCACTCTTTGGAGGAAGCCAGAAATACGCAGATGACAAAAAC c.1320
K A G L A L A L F G G S Q K Y A D D K N p.440
. . . . . . g.27530
AGAATTCCAATTCGGGGAGACCCCCACATCCTTGTTGTTGGAGATCCAGGCCTAGGAAAA c.1380
R I P I R G D P H I L V V G D P G L G K p.460
. | 13 . . . . . g.32269
AGTCAAATGCTACAG | GCAGCGTGCAATGTTGCCCCACGTGGCGTGTATGTTTGTGGTAAC c.1440
S Q M L Q | A A C N V A P R G V Y V C G N p.480
. . . . . . g.32329
ACCACGACCACCTCTGGTCTGACGGTAACTCTTTCAAAAGATAGTTCCTCTGGAGATTTT c.1500
T T T T S G L T V T L S K D S S S G D F p.500
. . . | 14. . . g.37341
GCTTTGGAAGCTGGTGCCCTGGTACTTGGTGATCAAG | GTATTTGTGGAATCGATGAATTT c.1560
A L E A G A L V L G D Q G | I C G I D E F p.520
. . . . . . g.37401
GATAAGATGGGGAATCAACATCAAGCCTTGTTGGAAGCCATGGAGCAGCAAAGTATTAGT c.1620
D K M G N Q H Q A L L E A M E Q Q S I S p.540
. . . . . . g.37461
CTTGCTAAGGCTGGTGTGGTTTGTAGCCTTCCTGCAAGAACTTCCATTATTGCTGCTGCA c.1680
L A K A G V V C S L P A R T S I I A A A p.560
. . . . . | 15 . g.39136
AATCCAGTTGGAGGACATTACAATAAAGCCAAAACAGTTTCTGAGAATTTAAA | AATGGGG c.1740
N P V G G H Y N K A K T V S E N L K | M G p.580
. . . . . . g.39196
AGTGCACTACTATCCAGATTTGATTTGGTCTTTATCCTGTTAGATACTCCAAATGAGCAT c.1800
S A L L S R F D L V F I L L D T P N E H p.600
. . . . . . g.39256
CATGATCACTTACTCTCTGAACATGTGATTGCAATAAGAGCTGGAAAGCAGAGAACCATT c.1860
H D H L L S E H V I A I R A G K Q R T I p.620
. . . . . . g.39316
AGCAGTGCCACAGTAGCTCGTATGAATAGTCAAGATTCAAATACTTCCGTACTTGAAGTA c.1920
S S A T V A R M N S Q D S N T S V L E V p.640
. . . | 16 . . . g.40297
GTTTCTGAGAAGCCATTATCAGAAAGACTAAAG | GTGGTTCCTGGAGAAACAATAGATCCC c.1980
V S E K P L S E R L K | V V P G E T I D P p.660
. . . . . . g.40357
ATTCCCCACCAGCTATTGAGAAAGTACATTGGCTATGCTCGGCAGTATGTGTACCCAAGG c.2040
I P H Q L L R K Y I G Y A R Q Y V Y P R p.680
. . . . . . g.40417
CTATCCACAGAAGCTGCTCGAGTTCTTCAAGATTTTTACCTTGAGCTCCGGAAACAGAGC c.2100
L S T E A A R V L Q D F Y L E L R K Q S p.700
. . . . . . g.40477
CAGAGGTTAAATAGCTCACCAATCACTACCAGGCAGCTGGAATCTTTGATTCGTCTGACA c.2160
Q R L N S S P I T T R Q L E S L I R L T p.720
| 17 . . . . . . g.41687
GAG | GCACGAGCAAGGTTGGAATTGAGAGAGGAAGCAACCAAAGAAGACGCTGAGGATATA c.2220
E | A R A R L E L R E E A T K E D A E D I p.740
. . | 18 . . . . g.47894
GTGGAAATTATGAAATATAG | CATGCTAGGAACTTACTCTGATGAATTTGGGAACCTAGAT c.2280
V E I M K Y S | M L G T Y S D E F G N L D p.760
. . . . . . g.47954
TTTGAGCGATCCCAGCATGGTTCTGGAATGAGCAACAGGTCAACAGCGAAAAGATTTATT c.2340
F E R S Q H G S G M S N R S T A K R F I p.780
. . . . . . g.48014
TCTGCTCTCAACAACGTTGCTGAAAGAACTTATAATAATATATTTCAATTTCATCAACTT c.2400
S A L N N V A E R T Y N N I F Q F H Q L p.800
. . . | 19 . . . g.48677
CGGCAGATTGCCAAAGAACTAAACATTCAG | GTTGCTGATTTTGAAAATTTTATTGGATCA c.2460
R Q I A K E L N I Q | V A D F E N F I G S p.820
. . . . . . g.48737
CTAAATGACCAGGGTTACCTCTTGAAAAAAGGCCCAAAAGTTTACCAGCTTCAAACTATG c.2520
L N D Q G Y L L K K G P K V Y Q L Q T M p.840
g.48740
TAA c.2523
X p.840
. . . . . . g.48800
aaggacttcaccaagttagggcctcctgggtttattgcagattaaagccatctcagtgaa c.*60
. . . . . . g.48860
gatatgcgtgcacgcacagacagacagacacacacacacacacacacacacacacacaca c.*120
. . . . . . g.48920
cacacacacacagtcaaatactgttctctgaaaaatgatgtcccaaaagtattataatag c.*180
. . . . . . g.48980
gaaaaaagcattaaatataataaactaatttaagaagtgataaagtctccagatgcagta c.*240
. . . . . . g.49040
gctcacactgtaatcacagtgactcaggaggctgaggtgagaggattccttgaggccagg c.*300
. . . . . . g.49100
gttcgagaccaaccttgggcaacatagcaagaccccatttcttaaaaaaaaaaaaaaaaa c.*360
. . . . . . g.49160
atttaaacttagctgggtatggtggcacatgcctatagtctcagctacttgtgaggctga c.*420
. . . . . . g.49220
ggcaggaggattctttgagcccaggagtttgaggttacagtgagccacaatcacaccaat c.*480
. . . . . . g.49280
cactgcactccagcctgggcaataaagtaactcttgactcaaaaaaataaaaaaaattgt c.*540
. . . . . . g.49340
agtggtagccatgtgttaattgttaaataaattctccaaagggctaaaagtaaattactt c.*600
. . . . . . g.49400
ataaattttttatagttgtatttttgacctgccttttatatgtatgaatatttcatagtt c.*660
. . . . . . g.49460
ttgcatatcagatgtaggcatacagacaaatacataaaccaatgaatatattacatattc c.*720
. . . . . . g.49520
tgtgttccaataaaactttatttatggacactaaaatttgaatttcataaaattttccca c.*780
. . . g.49555
tgtcaagaatacaaaatacttgagttttgttttta c.*815
(downstream sequence)
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