(used for variant description)
(last modified April 25, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_005916.4 in the MCM7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering MCM7 transcript NM_005916.4.
(upstream sequence)
. . . . g.4910
agtcccgtcagcttccggtagaagagctcggccacatcccggccgc c.-601
. . . . . . g.4970
cactgtccccgcggactggcgggtggaaggactcagtgaaggatcctgcgacacaggctg c.-541
. . . . . . g.5030
gccctgggcgcccctcccgcccggcccctccgccccttcccagccccaagggtctaggat c.-481
. . . . . . g.5090
acagtctttgtagatgagcgggtcccccttggaggacagaatgaagaattgggaaatcat c.-421
. . . . . . g.5150
ggccgttctggagagtagacaagaagacggcgaaagtcgggcctgccccgccctgcggcc c.-361
. . . . . . g.5210
ccggaacaaaagaacgcgtgtgcgctggccctttaagagcgattctcctccgcccgcgcc c.-301
. . . . . . g.5270
agctcggaccgcgggaaacccggcgcctgcactaccccgcccggagattcccttccgacg c.-241
. . . . . . g.5330
cccgcaccgcctccccgtcactcattctaggcccgcacggtgattggcttgcggctagcg c.-181
. . . . . . g.5390
ggaggtgaagaaggccgccttgtccgattggcccgcacgcagtggcgccggtcacgtggg c.-121
. . . . . . g.5450
gggcgacgtttcgcgccaatttcggttggccggccacagtccaccgcgcggagattctca c.-61
. . . . . . g.5510
gcttccccaggagcaagacctctgagcccgccaagcgcggccgcacggccctcggcagcg c.-1
. . . | 02 . . . g.6740
ATGGCACTGAAGGACTACGCGCTAGAGAAGG | AAAAGGTTAAGAAGTTCTTACAAGAGTTC c.60
M A L K D Y A L E K E | K V K K F L Q E F p.20
. . . . . | 03 . g.7060
TACCAGGATGATGAACTCGGGAAGAAGCAGTTCAAGTATGGGAACCAGTTG | GTTCGGCTG c.120
Y Q D D E L G K K Q F K Y G N Q L | V R L p.40
. . . . . . g.7120
GCTCATCGGGAACAGGTGGCTCTGTATGTGGACCTGGACGACGTAGCCGAGGATGACCCC c.180
A H R E Q V A L Y V D L D D V A E D D P p.60
. . . . . . g.7180
GAGTTGGTGGACTCAATTTGTGAGAATGCCAGGCGCTACGCGAAGCTCTTTGCTGATGCC c.240
E L V D S I C E N A R R Y A K L F A D A p.80
. . . | 04 . . . g.7425
GTACAAGAGCTGCTGCCTCAGTACAAGGAGAGGGAA | GTGGTAAATAAAGATGTCCTGGAC c.300
V Q E L L P Q Y K E R E | V V N K D V L D p.100
. . . . . . g.7485
GTTTACATTGAGCATCGGCTAATGATGGAGCAGCGGAGTCGGGACCCTGGGATGGTCCGA c.360
V Y I E H R L M M E Q R S R D P G M V R p.120
. . . . | 05 . . g.7620
AGCCCCCAGAACCAGTACCCTGCTGAACTCATGCGCAGATT | TGAGCTGTATTTTCAAGGC c.420
S P Q N Q Y P A E L M R R F | E L Y F Q G p.140
. . . . . . g.7680
CCTAGCAGCAACAAGCCTCGTGTGATCCGGGAAGTGCGGGCTGACTCTGTGGGGAAGTTG c.480
P S S N K P R V I R E V R A D S V G K L p.160
. . . . . . g.7740
GTAACTGTGCGTGGAATCGTCACTCGTGTCTCTGAAGTCAAACCCAAGATGGTGGTGGCC c.540
V T V R G I V T R V S E V K P K M V V A p.180
. . . . | 06 . . g.8107
ACTTACACTTGTGACCAGTGTGGGGCAGAGACCTACCAGCCG | ATCCAGTCTCCCACTTTC c.600
T Y T C D Q C G A E T Y Q P | I Q S P T F p.200
. . . . . . g.8167
ATGCCTCTGATCATGTGCCCAAGCCAGGAGTGCCAAACCAACCGCTCAGGAGGGCGGCTG c.660
M P L I M C P S Q E C Q T N R S G G R L p.220
. . . . . . g.8227
TATCTGCAGACACGGGGCTCCAGATTCATCAAATTCCAGGAGATGAAGATGCAAGAACAT c.720
Y L Q T R G S R F I K F Q E M K M Q E H p.240
| 07 . . . . . . g.8574
| AGTGATCAGGTGCCTGTGGGAAATATCCCTCGTAGTATCACGGTGCTGGTAGAAGGAGAG c.780
| S D Q V P V G N I P R S I T V L V E G E p.260
. . . . . . g.8634
AACACAAGGATTGCCCAGCCTGGAGACCACGTCAGCGTCACTGGTATTTTCTTGCCAATC c.840
N T R I A Q P G D H V S V T G I F L P I p.280
. . . | 08 . . . g.8886
CTGCGCACTGGGTTCCGACAGGTGGTACAG | GGTTTACTCTCAGAAACCTACCTGGAAGCC c.900
L R T G F R Q V V Q | G L L S E T Y L E A p.300
. . . . . . g.8946
CATCGGATTGTGAAGATGAACAAGAGTGAGGATGATGAGTCTGGGGCTGGAGAGCTCACC c.960
H R I V K M N K S E D D E S G A G E L T p.320
. . | 09 . . . . g.9094
AGGGAGGAGCTGAGGCAAATTGCAG | AGGAGGATTTCTACGAAAAGCTGGCAGCTTCAATC c.1020
R E E L R Q I A E | E D F Y E K L A A S I p.340
. . . . . . g.9154
GCCCCAGAAATATACGGGCATGAAGATGTGAAGAAGGCACTGCTGCTCCTGCTAGTCGGG c.1080
A P E I Y G H E D V K K A L L L L L V G p.360
. . . | 10. . . g.9443
GGTGTGGACCAGTCTCCTCGAGGCATGAAAATCCGGG | GCAACATCAACATCTGTCTGATG c.1140
G V D Q S P R G M K I R G | N I N I C L M p.380
. . . . . . g.9503
GGGGATCCTGGTGTGGCCAAGTCTCAGCTCCTGTCATACATTGATCGACTGGCGCCTCGC c.1200
G D P G V A K S Q L L S Y I D R L A P R p.400
| 11 . . . . . . g.10696
A | GCCAGTACACAACAGGCCGGGGCTCCTCAGGAGTGGGGCTTACGGCAGCTGTGCTGAGA c.1260
S | Q Y T T G R G S S G V G L T A A V L R p.420
. . . . . . g.10756
GACTCCGTGAGTGGAGAACTGACCTTAGAGGGTGGGGCCCTGGTGCTGGCTGACCAGGGT c.1320
D S V S G E L T L E G G A L V L A D Q G p.440
. . . . . . g.10816
GTGTGCTGCATTGATGAGTTCGACAAGATGGCTGAGGCCGACCGCACAGCCATCCACGAG c.1380
V C C I D E F D K M A E A D R T A I H E p.460
. . . . . . g.10876
GTCATGGAGCAGCAGACCATCTCCATTGCCAAGGCCGGCATTCTCACCACACTCAATGCC c.1440
V M E Q Q T I S I A K A G I L T T L N A p.480
. . . . . . g.10936
CGCTGCTCCATCCTGGCTGCCGCCAACCCTGCCTACGGGCGCTACAACCCTCGCCGCAGC c.1500
R C S I L A A A N P A Y G R Y N P R R S p.500
. . . . . . g.10996
CTGGAGCAGAACATACAGCTACCTGCTGCACTGCTCTCCCGGTTTGACCTCCTCTGGCTG c.1560
L E Q N I Q L P A A L L S R F D L L W L p.520
. . . | 12 . . . g.11359
ATTCAGGACCGGCCCGACCGAGACAATGACCTACG | GTTGGCCCAGCACATCACCTATGTG c.1620
I Q D R P D R D N D L R | L A Q H I T Y V p.540
. . . . . | 13 g.12464
CACCAGCACAGCCGGCAGCCCCCCTCCCAGTTTGAACCTCTGGACATGAAGCTCATGAG | G c.1680
H Q H S R Q P P S Q F E P L D M K L M R | p.560
. . . . . . g.12524
CGTTACATAGCCATGTGCCGCGAGAAGCAGCCCATGGTGCCAGAGTCTCTGGCTGACTAC c.1740
R Y I A M C R E K Q P M V P E S L A D Y p.580
. . . . . . g.12584
ATCACAGCAGCATACGTGGAGATGAGGCGAGAGGCTTGGGCTAGTAAGGATGCCACCTAT c.1800
I T A A Y V E M R R E A W A S K D A T Y p.600
. . . . | 14 . g.13415
ACTTCTGCCCGGACCCTGCTGGCTATCCTGCGCCTTTCCACTGCTCTG | GCACGTCTGAGA c.1860
T S A R T L L A I L R L S T A L | A R L R p.620
. . . . . . g.13475
ATGGTGGATGTGGTGGAGAAAGAAGATGTGAATGAAGCCATCAGGCTAATGGAGATGTCA c.1920
M V D V V E K E D V N E A I R L M E M S p.640
. . . | 15 . . g.13693
AAGGACTCTCTTCTAGGAGACAAGGGGCAGACAGCTAG | GACTCAGAGACCAGCAGATGTG c.1980
K D S L L G D K G Q T A R | T Q R P A D V p.660
. . . . . . g.13753
ATATTTGCCACCGTCCGTGAACTGGTCTCAGGGGGCCGAAGTGTCCGGTTCTCTGAGGCA c.2040
I F A T V R E L V S G G R S V R F S E A p.680
. . . . . . g.13813
GAGCAGCGCTGTGTATCTCGTGGCTTCACACCCGCCCAGTTCCAGGCGGCTCTGGATGAA c.2100
E Q R C V S R G F T P A Q F Q A A L D E p.700
. . . . . . g.13873
TATGAGGAGCTCAATGTCTGGCAGGTCAATGCTTCCCGGACACGGATCACTTTTGTCTGA c.2160
Y E E L N V W Q V N A S R T R I T F V X p.719
. . . . . . g.13933
ttccagcctgcttgcaaccctggggtcctcttgttccctgctggcctgccccttgggaag c.*60
. . . . . . g.13993
gggcagtgatgcctttgaggggaaggaggagcccctctttctcccatgctgcacttactc c.*120
. . . . . . g.14053
cttttgctaataaaagtgtttgtagattgtcatcttctagcctgggcctgacttccatta c.*180
. . g.14077
aaacagggttttgtgcgtttttta c.*204
(downstream sequence)
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