(used for variant description)
(last modified June 26, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005445.3 in the SMC3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012217.1, covering SMC3 transcript NM_005445.3.
(upstream sequence)
g.5006
ttttgt c.-121
. . . . . . g.5066
ttggctgaggggagcgagcggcgctttgggggaggggtcgcgtaggcgcctcacctgacc c.-61
. . . . . . g.5126
ctgcggccgtgcggttgctgctccggggcaggtctccttccaggccaggggcccggaatc c.-1
. | 02 . . . . . g.6292
ATGTACATAAAGCAG | GTGATTATCCAGGGTTTTCGAAGTTACAGAGATCAAACAATTGTA c.60
M Y I K Q | V I I Q G F R S Y R D Q T I V p.20
. . . | 03 . . . g.11045
GATCCCTTCAGTTCAAAACATAATGTGATTG | TGGGCAGAAATGGATCTGGAAAAAGTAAC c.120
D P F S S K H N V I V | G R N G S G K S N p.40
. | 04 . . . . . g.12695
TTTTTTTATG | CAATTCAGTTTGTTCTCAGTGATGAGTTTAGTCATCTTCGTCCAGAACAG c.180
F F Y A | I Q F V L S D E F S H L R P E Q p.60
. | 05 . . . . g.14772
CGGTTGGCTTTATTGCAT | GAAGGTACTGGTCCTCGTGTTATTTCTGCTTTTGTGGAGATT c.240
R L A L L H | E G T G P R V I S A F V E I p.80
. . . | 06 . . . g.15174
ATTTTTGATAATTCAGACAACCGGTTACCA | ATCGATAAAGAGGAAGTTTCACTTCGAAGA c.300
I F D N S D N R L P | I D K E E V S L R R p.100
. . . . . | 07 . g.15947
GTTATTGGTGCCAAAAAGGATCAGTATTTCTTAGACAAGAAGATGGTCAC | GAAAAATGAT c.360
V I G A K K D Q Y F L D K K M V T | K N D p.120
. . . . . . g.16007
GTGATGAACCTCCTTGAAAGCGCTGGTTTTTCTCGAAGCAATCCTTATTATATTGTTAAA c.420
V M N L L E S A G F S R S N P Y Y I V K p.140
| 08 . . . . . g.18264
CAAGGAAAG | ATCAACCAGATGGCAACAGCACCAGATTCTCAGAGATTAAAGCTATTAAGA c.480
Q G K | I N Q M A T A P D S Q R L K L L R p.160
. . . . . . g.18324
GAAGTAGCTGGTACTAGAGTGTATGACGAACGAAAGGAAGAAAGCATCTCCTTAATGAAA c.540
E V A G T R V Y D E R K E E S I S L M K p.180
| 09. . . . . . g.19285
GAAACAG | AGGGCAAACGGGAAAAAATCAATGAGTTGTTAAAATACATTGAAGAGAGATTA c.600
E T E | G K R E K I N E L L K Y I E E R L p.200
. . . . . . g.19345
CATACTCTAGAGGAAGAAAAGGAAGAACTAGCTCAGTATCAGAAGTGGGATAAAATGAGA c.660
H T L E E E K E E L A Q Y Q K W D K M R p.220
. . . . . . g.19405
CGAGCCCTGGAATATACCATTTACAATCAGGAACTTAACGAGACTCGTGCCAAACTTGAT c.720
R A L E Y T I Y N Q E L N E T R A K L D p.240
| 10 . . . . . . g.19928
GAG | CTTTCTGCTAAGCGAGAGACTAGTGGAGAAAAATCCAGACAATTAAGAGATGCTCAG c.780
E | L S A K R E T S G E K S R Q L R D A Q p.260
. . | 11 . . . . g.20729
CAGGATGCAAGAGATAAAATGGAG | GATATCGAACGCCAAGTTAGAGAATTGAAAACAAAA c.840
Q D A R D K M E | D I E R Q V R E L K T K p.280
. . . . . . g.20789
ATTTCAGCTATGAAAGAAGAAAAAGAACAGCTTAGTGCTGAAAGACAAGAGCAGATTAAG c.900
I S A M K E E K E Q L S A E R Q E Q I K p.300
. . . . . . g.20849
CAGAGGACTAAGTTGGAGCTTAAAGCCAAGGATTTACAAGATGAACTAGCAGGCAATAGT c.960
Q R T K L E L K A K D L Q D E L A G N S p.320
| 12 . . . . . g.21201
GAACAAAGG | AAACGTTTATTAAAAGAGAGGCAGAAGCTGCTTGAAAAAATAGAAGAAAAG c.1020
E Q R | K R L L K E R Q K L L E K I E E K p.340
. . . . . . g.21261
CAGAAAGAACTGGCAGAAACAGAACCCAAATTCAACAGTGTGAAAGAGAAAGAAGAACGA c.1080
Q K E L A E T E P K F N S V K E K E E R p.360
. | 13 . . . . . g.21541
GGAATTGCTAG | ATTGGCTCAAGCTACCCAGGAAAGAACGGATCTTTATGCAAAGCAGGGT c.1140
G I A R | L A Q A T Q E R T D L Y A K Q G p.380
. . . . . . g.21601
CGAGGAAGCCAGTTTACATCAAAAGAAGAAAGGGATAAGTGGATTAAAAAGGAACTCAAG c.1200
R G S Q F T S K E E R D K W I K K E L K p.400
. . . . . . g.21661
TCTTTAGATCAGGCTATTAATGACAAGAAAAGACAGATTGCTGCTATACATAAGGATTTG c.1260
S L D Q A I N D K K R Q I A A I H K D L p.420
. . . . | 14 . . g.26929
GAAGACACTGAAGCAAATAAAGAGAAAAATCTGGAGCAGTATAAT | AAACTGGACCAGGAT c.1320
E D T E A N K E K N L E Q Y N | K L D Q D p.440
. . . . . . g.26989
CTTAATGAAGTCAAAGCTCGAGTAGAAGAACTGGACAGAAAATATTACGAAGTAAAAAAT c.1380
L N E V K A R V E E L D R K Y Y E V K N p.460
. . | 15 . . . g.27232
AAGAAAGATGAACTACAAAGTGAAAGAAA | CTACTTGTGGAGAGAAGAGAATGCAGAACAG c.1440
K K D E L Q S E R N | Y L W R E E N A E Q p.480
. . . . . . g.27292
CAAGCACTTGCTGCTAAAAGAGAAGATCTTGAAAAGAAGCAACAACTTCTTAGAGCAGCA c.1500
Q A L A A K R E D L E K K Q Q L L R A A p.500
| 16 . . . . . g.27772
ACAGGAAAG | GCCATTTTAAATGGAATAGACAGCATAAACAAAGTGCTAGACCACTTCCGT c.1560
T G K | A I L N G I D S I N K V L D H F R p.520
. . . . . . g.27832
CGAAAAGGAATAAACCAGCATGTTCAAAATGGCTATCATGGTATTGTAATGAATAACTTT c.1620
R K G I N Q H V Q N G Y H G I V M N N F p.540
. . . . . | 17 . g.28310
GAATGTGAACCAGCTTTCTACACATGCGTGGAAGTCACTGCTGGAAACAG | GTTATTTTAT c.1680
E C E P A F Y T C V E V T A G N R | L F Y p.560
. . . . . . g.28370
CACATTGTTGATTCAGATGAAGTCAGCACGAAGATTTTAATGGAGTTTAATAAAATGAAT c.1740
H I V D S D E V S T K I L M E F N K M N p.580
. . . . . . g.28430
CTTCCTGGAGAGGTTACTTTTCTGCCTCTTAACAAGTTAGATGTCAGGGATACAGCCTAT c.1800
L P G E V T F L P L N K L D V R D T A Y p.600
. | 18 . . . . . g.30430
CCTGAAACCAAT | GATGCTATTCCTATGATCAGCAAACTGAGGTACAATCCCAGATTTGAC c.1860
P E T N | D A I P M I S K L R Y N P R F D p.620
. . . . . . g.30490
AAAGCTTTCAAACATGTGTTTGGAAAGACTCTTATTTGTCGTAGCATGGAAGTTTCAACC c.1920
K A F K H V F G K T L I C R S M E V S T p.640
. . . . | 19 . . g.33724
CAGCTGGCCCGTGCTTTCACTATGGACTGTATTACTTTGGAAG | GTGACCAAGTCAGCCAT c.1980
Q L A R A F T M D C I T L E G | D Q V S H p.660
. . . . . . g.33784
CGGGGTGCTCTAACTGGGGGTTATTATGACACAAGGAAGTCTCGACTTGAATTGCAAAAA c.2040
R G A L T G G Y Y D T R K S R L E L Q K p.680
. . . . . . g.33844
GATGTTAGAAAAGCAGAAGAAGAACTAGGTGAACTTGAAGCAAAGCTCAATGAAAACCTG c.2100
D V R K A E E E L G E L E A K L N E N L p.700
. | 20 . . . . . g.35492
CGCAGAAATATTGAAA | GGATTAATAATGAAATTGATCAGTTGATGAACCAAATGCAACAG c.2160
R R N I E R | I N N E I D Q L M N Q M Q Q p.720
. . . . . . g.35552
ATCGAGACCCAGCAAAGGAAATTTAAAGCATCTAGAGATAGCATATTATCAGAAATGAAG c.2220
I E T Q Q R K F K A S R D S I L S E M K p.740
. . . . | 21 . g.36975
ATGCTAAAAGAGAAGAGGCAGCAGTCAGAGAAAACCTTCATGCCTAAG | CAACGTAGCTTA c.2280
M L K E K R Q Q S E K T F M P K | Q R S L p.760
. . . . . . g.37035
CAGAGTTTGGAGGCAAGCTTGCATGCTATGGAGTCTACCAGAGAGTCATTGAAAGCAGAA c.2340
Q S L E A S L H A M E S T R E S L K A E p.780
. . . . . . g.37095
CTGGGAACTGATTTGCTTTCTCAACTGAGTTTGGAAGATCAGAAGAGAGTAGATGCACTG c.2400
L G T D L L S Q L S L E D Q K R V D A L p.800
. . | 22. . . . g.37781
AATGATGAGATTCGTCAACTTCAGCAG | GAAAACAGACAGTTGCTAAATGAAAGAATTAAA c.2460
N D E I R Q L Q Q | E N R Q L L N E R I K p.820
. . . . . . g.37841
TTAGAAGGTATTATTACTCGAGTAGAGACTTATCTCAATGAGAATCTGAGAAAACGCTTG c.2520
L E G I I T R V E T Y L N E N L R K R L p.840
. | 23 . . . . . g.38376
GACCAAGTAGAACAG | GAACTTAATGAGCTGAGAGAGACAGAAGGGGGTACTGTTCTCACA c.2580
D Q V E Q | E L N E L R E T E G G T V L T p.860
. . . . . . g.38436
GCCACAACATCAGAACTTGAAGCCATCAATAAAAGAGTAAAAGACACTATGGCACGATCA c.2640
A T T S E L E A I N K R V K D T M A R S p.880
| 24 . . . . . . g.39002
GAAG | ATTTGGACAATTCCATTGATAAAACAGAAGCTGGAATTAAGGAGCTTCAGAAGAGT c.2700
E D | L D N S I D K T E A G I K E L Q K S p.900
. . . . . . g.39062
ATGGAGCGCTGGAAAAATATGGAAAAAGAACATATGGATGCTATAAATCATGATACTAAA c.2760
M E R W K N M E K E H M D A I N H D T K p.920
. . . . . . g.39122
GAACTGGAAAAGATGACAAATCGGCAAGGCATGCTATTGAAGAAGAAAGAAGAGTGTATG c.2820
E L E K M T N R Q G M L L K K K E E C M p.940
. . . . . . g.39182
AAGAAAATTCGAGAACTTGGATCACTTCCCCAGGAAGCATTTGAAAAGTACCAGACACTG c.2880
K K I R E L G S L P Q E A F E K Y Q T L p.960
. | 25 . . . . . g.39323
AGCCTCAAACAG | TTGTTTCGAAAACTTGAGCAGTGCAACACAGAATTAAAGAAGTACAGC c.2940
S L K Q | L F R K L E Q C N T E L K K Y S p.980
. . . . . . g.39383
CATGTTAACAAAAAGGCTTTGGATCAGTTTGTAAATTTCTCCGAGCAGAAAGAAAAGTTA c.3000
H V N K K A L D Q F V N F S E Q K E K L p.1000
. . . . . . g.39443
ATAAAGCGTCAAGAAGAGTTAGATAGGGGTTACAAATCAATCATGGAACTGATGAATGTA c.3060
I K R Q E E L D R G Y K S I M E L M N V p.1020
. . . . | 26 . . g.39798
CTTGAACTTCGGAAATATGAAGCTATTCAGTTAACTTTCAAACAG | GTATCTAAGAACTTC c.3120
L E L R K Y E A I Q L T F K Q | V S K N F p.1040
. . . . . . g.39858
AGTGAAGTATTCCAGAAGTTAGTACCTGGTGGCAAAGCTACTTTGGTGATGAAGAAAGGA c.3180
S E V F Q K L V P G G K A T L V M K K G p.1060
. . . . . . g.39918
GATGTGGAGGGCAGTCAGTCTCAAGATGAAGGAGAAGGGAGTGGTGAGAGTGAGAGGGGT c.3240
D V E G S Q S Q D E G E G S G E S E R G p.1080
. . . . . | 27. g.40137
TCTGGCTCACAAAGCAGTGTCCCATCAGTTGACCAGTTTACTGGAGTTGGAATTAGG | GTG c.3300
S G S Q S S V P S V D Q F T G V G I R | V p.1100
. . . . . . g.40197
TCATTTACAGGAAAACAAGGTGAAATGAGAGAAATGCAACAGCTTTCAGGTGGACAGAAA c.3360
S F T G K Q G E M R E M Q Q L S G G Q K p.1120
. . . . . . g.40257
TCCTTGGTAGCCCTTGCTCTGATTTTTGCCATTCAGAAATGTGACCCGGCTCCATTTTAC c.3420
S L V A L A L I F A I Q K C D P A P F Y p.1140
. . . . . | 28 . g.40498
TTGTTTGATGAAATTGACCAGGCTCTGGATGCTCAGCACAGAAAGGCTGTGTCAG | ATATG c.3480
L F D E I D Q A L D A Q H R K A V S D | M p.1160
. . . . . . g.40558
ATTATGGAACTTGCTGTACATGCTCAGTTTATTACAACTACTTTTAGGCCTGAACTGCTT c.3540
I M E L A V H A Q F I T T T F R P E L L p.1180
. . . . | 29 . . g.41558
GAGTCAGCTGACAAATTCTATGGTGTAAAGTTCAGAAATAAG | GTTAGTCATATTGATGTG c.3600
E S A D K F Y G V K F R N K | V S H I D V p.1200
. . . . . g.41612
ATCACAGCAGAGATGGCCAAAGACTTTGTAGAAGATGATACCACACATGGTTAA c.3654
I T A E M A K D F V E D D T T H G X p.1217
. . . . . . g.41672
ttggaaaatactacctactggtttgggagatgtatatagtaatatgattctcatacccag c.*60
. . . . . . g.41732
gaactgtaaatttaaacctaaatatttggccaatagttttcagacttaaagcatcatagt c.*120
. . . . . . g.41792
ccttttatatttgtctttgtattttataagatactctgtaatgtcatgtttgtactgata c.*180
. . . . . . g.41852
gtttaagaatttaatttcctgtacaactttttgtaaaatgttctgctcctattttaaatg c.*240
. . . . . . g.41912
ttttgaaacatgctaaatattctttcctaattattttatcacttatactaccttttttat c.*300
. . . g.41944
agcttcaattaaataatcggttttatgactaa c.*332
(downstream sequence)
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