(used for variant description)
(last modified December 2, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_148674.3 in the SMC1B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering SMC1B transcript NM_148674.3.
(upstream sequence)
. . . . . g.5052
cgctttttccgcgggcgcttgataacgcgggtgaggcgtggagggcggcgcc c.-1
. . . . . . g.5112
ATGGCCCACCTGGAGCTGCTGCTTGTGGAAAATTTCAAGTCGTGGCGGGGCCGCCAGGTC c.60
M A H L E L L L V E N F K S W R G R Q V p.20
. . . . | 02 . g.9732
ATTGGCCCCTTCCGGAGGTTCACCTGCATCATCGGCCCCAACGGCTCTG | GAAAATCTAAT c.120
I G P F R R F T C I I G P N G S G | K S N p.40
. . . . . . g.9792
GTAATGGATGCACTTAGTTTTGTAATGGGAGAGAAAATAGCTAATTTAAGAGTGAAAAAT c.180
V M D A L S F V M G E K I A N L R V K N p.60
. . . . . . g.9852
ATTCAAGAACTCATTCATGGAGCACATATTGGAAAACCTATTTCTTCTTCTGCAAGTGTA c.240
I Q E L I H G A H I G K P I S S S A S V p.80
. . . . . | 03 g.11756
AAAATTATATATGTGGAGGAAAGTGGCGAAGAGAAAACATTTGCAAGGATTATCCGAG | GG c.300
K I I Y V E E S G E E K T F A R I I R G | p.100
. . . . . . g.11816
GGATGCTCAGAATTTCGCTTTAATGATAATCTTGTGAGTCGTTCTGTTTACATTGCAGAG c.360
G C S E F R F N D N L V S R S V Y I A E p.120
. . . . . | 04 . g.11965
TTGGAAAAGATAGGCATAATAGTCAAAGCACAAAATTGTTTGGTTTTTCAG | GGAACTGTA c.420
L E K I G I I V K A Q N C L V F Q | G T V p.140
. . . . . . g.12025
GAGTCAATTTCAGTGAAGAAACCCAAAGAAAGGACCCAGTTTTTTGAGGAAATCAGCACT c.480
E S I S V K K P K E R T Q F F E E I S T p.160
. . . . . . g.12085
TCAGGAGAGCTTATAGGAGAATATGAAGAAAAGAAAAGAAAGTTACAAAAAGCCGAAGAG c.540
S G E L I G E Y E E K K R K L Q K A E E p.180
. . . . . . g.12145
GATGCACAGTTTAACTTTAATAAGAAAAAAAATATAGCGGCAGAGCGCAGACAAGCAAAA c.600
D A Q F N F N K K K N I A A E R R Q A K p.200
. | 05 . . . . . g.16094
TTAGAGAAGGAAGAG | GCAGAACGTTACCAGAGTCTCCTTGAAGAACTGAAAATGAACAAG c.660
L E K E E | A E R Y Q S L L E E L K M N K p.220
. . . . . . g.16154
ATACAACTGCAGCTTTTTCAACTATACCATAATGAGAAAAAGATTCATCTCCTGAACACC c.720
I Q L Q L F Q L Y H N E K K I H L L N T p.240
. . . . . . g.16214
AAGTTAGAGCATGTGAATAGGGATTTGAGTGTCAAAAGAGAGTCTTTGTCTCATCATGAA c.780
K L E H V N R D L S V K R E S L S H H E p.260
. . . . . . g.16274
AACATAGTTAAAGCCAGGAAAAAGGAACATGGAATGCTAACTAGACAACTACAACAAACA c.840
N I V K A R K K E H G M L T R Q L Q Q T p.280
. | 06 . . . . . g.19313
GAAAAAGAATTAAA | ATCGGTTGAAACCCTTTTAAATCAGAAGAGGCCTCAGTACATTAAA c.900
E K E L K | S V E T L L N Q K R P Q Y I K p.300
. . . . . . g.19373
GCCAAAGAAAACACTTCTCACCACCTTAAGAAATTAGATGTGGCTAAGAAATCAATAAAG c.960
A K E N T S H H L K K L D V A K K S I K p.320
. . . . . . g.19433
GACAGCGAAAAACAATGTTCTAAACAGGAAGATGATATAAAAGCCCTGGAGACAGAGCTG c.1020
D S E K Q C S K Q E D D I K A L E T E L p.340
. . . . . . g.19493
GCTGATTTAGATGCTGCATGGAGAAGTTTTGAAAAGCAGATTGAGGAAGAAATTTTACAT c.1080
A D L D A A W R S F E K Q I E E E I L H p.360
. . . | 07 . . . g.22161
AAAAAGCGAGACATTGAACTGGAAGCCAGTCAG | CTGGATCGTTATAAAGAACTTAAGGAA c.1140
K K R D I E L E A S Q | L D R Y K E L K E p.380
. . . . . . g.22221
CAAGTAAGAAAGAAAGTAGCTACAATGACTCAACAACTGGAAAAACTGCAGTGGGAACAG c.1200
Q V R K K V A T M T Q Q L E K L Q W E Q p.400
. . . . . | 08 . g.23859
AAGACAGATGAAGAAAGACTGGCATTTGAAAAGAGGAGGCATGGAGAAGTTCAG | GGAAAT c.1260
K T D E E R L A F E K R R H G E V Q | G N p.420
. . . . . . g.23919
CTAAAACAAATAAAAGAACAAATAGAAGATCATAAAAAACGAATAGAGAAGTTAGAGGAG c.1320
L K Q I K E Q I E D H K K R I E K L E E p.440
. | 09. . . . . g.24822
TATACAAAGACATGCAT | GGATTGCTTGAAAGAGAAAAAACAGCAAGAGGAAACCCTAGTG c.1380
Y T K T C M | D C L K E K K Q Q E E T L V p.460
. . . . . . g.24882
GATGAAATTGAAAAAACAAAATCAAGAATGTCTGAATTTAATGAAGAATTGAATCTTATT c.1440
D E I E K T K S R M S E F N E E L N L I p.480
. . . . . . g.24942
AGAAGTGAATTGCAGAATGCTGGGATTGATACCCATGAGGGAAAACGTCAGCAAAAGAGA c.1500
R S E L Q N A G I D T H E G K R Q Q K R p.500
. . . . | 10 . . g.28738
GCAGAGGTTCTGGAACACCTTAAAAGACTGTACCCAGATTCTGTG | TTTGGAAGACTATTT c.1560
A E V L E H L K R L Y P D S V | F G R L F p.520
. . . . . . g.28798
GACCTGTGTCATCCTATTCATAAGAAATACCAGCTGGCTGTTACTAAGGTTTTTGGCCGG c.1620
D L C H P I H K K Y Q L A V T K V F G R p.540
. . . . . . g.28858
TTCATCACTGCCATTGTTGTAGCCTCTGAAAAGGTAGCAAAAGATTGTATTCGATTTCTG c.1680
F I T A I V V A S E K V A K D C I R F L p.560
. . . . . | 11 . g.31583
AAGGAGGAAAGAGCTGAACCTGAGACATTCCTCGCTCTAGATTACCTTGAT | ATCAAGCCA c.1740
K E E R A E P E T F L A L D Y L D | I K P p.580
. . . . . . g.31643
ATCAATGAAAGACTAAGGGAGCTTAAAGGCTGTAAAATGGTGATTGATGTCATAAAGACT c.1800
I N E R L R E L K G C K M V I D V I K T p.600
. . . . . . g.31703
CAGTTTCCTCAGCTGAAGAAAGTGATTCAGTTTGTGTGTGGAAATGGTCTTGTTTGTGAG c.1860
Q F P Q L K K V I Q F V C G N G L V C E p.620
. . . . . | 12 . g.35016
ACTATGGAAGAAGCAAGGCATATTGCACTCAGTGGACCTGAAAGACAGAAA | ACAGTAGCT c.1920
T M E E A R H I A L S G P E R Q K | T V A p.640
. . . . . . g.35076
CTTGATGGAACATTATTTTTAAAATCTGGAGTGATCTCTGGAGGGTCAAGTGACTTAAAA c.1980
L D G T L F L K S G V I S G G S S D L K p.660
. . . . . . g.35136
TACAAGGCTAGATGCTGGGATGAGAAAGAGTTAAAGAATCTAAGAGACAGACGAAGCCAG c.2040
Y K A R C W D E K E L K N L R D R R S Q p.680
. | 13 . . . . g.46370
AAAATCCAAGAGCTAAAG | GGTTTAATGAAGACACTCCGCAAAGAAACAGATTTGAAACAA c.2100
K I Q E L K | G L M K T L R K E T D L K Q p.700
. . . . . . g.46430
ATACAGACCCTGATACAGGGAACTCAAACACGACTCAAATATTCACAAAATGAACTAGAG c.2160
I Q T L I Q G T Q T R L K Y S Q N E L E p.720
. . . | 14 . . . g.47057
ATGATTAAGAAGAAGCACCTTGTTGCTTTTTACCAG | GAACAATCTCAGTTACAAAGTGAA c.2220
M I K K K H L V A F Y Q | E Q S Q L Q S E p.740
. . . . . . g.47117
CTACTAAATATTGAGTCTCAATGTATTATGTTGAGTGAAGGAATCAAGGAACGACAACGA c.2280
L L N I E S Q C I M L S E G I K E R Q R p.760
. . . | 15 . . . g.48587
AGAATTAAAGAATTTCAAGAAAAGATAGATAAG | GTAGAAGACGATATCTTCCAACACTTC c.2340
R I K E F Q E K I D K | V E D D I F Q H F p.780
. . . . . . g.48647
TGTGAAGAAATTGGCGTGGAAAATATTCGTGAATTTGAGAACAAACATGTTAAACGGCAA c.2400
C E E I G V E N I R E F E N K H V K R Q p.800
. . | 16 . . . . g.55634
CAAGAAATTGATCAAAAAAG | ATTAGAATTTGAAAAACAAAAAACTCGGCTTAATGTTCAA c.2460
Q E I D Q K R | L E F E K Q K T R L N V Q p.820
. . . . . . g.55694
CTTGAGTATAGTCGCAGTCACCTTAAGAAGAAACTGAATAAGATCAACACATTAAAAGAA c.2520
L E Y S R S H L K K K L N K I N T L K E p.840
. . . . | 17 . . g.56654
ACTATCCAGAAAGGTAGTGAAGATATTGATCACCTAAAGAAG | GCTGAAGAAAACTGTCTG c.2580
T I Q K G S E D I D H L K K | A E E N C L p.860
. . . . . . g.56714
CAGACAGTGAATGAACTCATGGCAAAGCAGCAGCAACTTAAGGACATACGTGTCACTCAG c.2640
Q T V N E L M A K Q Q Q L K D I R V T Q p.880
. . . . . . g.56774
AACTCCAGTGCCGAGAAAGTTCAAACTCAAATTGAAGAGGAACGGAAGAAGTTTCTGGCT c.2700
N S S A E K V Q T Q I E E E R K K F L A p.900
| 18 . . . . . g.58714
GTTGATAG | GGAAGTGGGGAAATTGCAAAAAGAAGTTGTAAGTATTCAAACTTCTCTGGAA c.2760
V D R | E V G K L Q K E V V S I Q T S L E p.920
. . . . . . g.58774
CAGAAACGATTAGAGAAGCATAACTTGCTGCTTGATTGCAAAGTGCAAGACATTGAGATA c.2820
Q K R L E K H N L L L D C K V Q D I E I p.940
. . . . | 19 . . g.59843
ATCCTTTTGTCGGGGTCACTGGATGACATCATTGAAGTGGAG | ATGGGAACTGAAGCAGAA c.2880
I L L S G S L D D I I E V E | M G T E A E p.960
. . . . . . g.59903
AGTACCCAGGCAACAATTGATATCTATGAAAAAGAAGAAGCCTTTGAAATAGACTACAGC c.2940
S T Q A T I D I Y E K E E A F E I D Y S p.980
. . | 20 . . . . g.63544
TCTCTAAAAGAGGATTTGAAG | GCTCTACAGTCTGATCAAGAAATCGAGGCCCACCTTAGG c.3000
S L K E D L K | A L Q S D Q E I E A H L R p.1000
. . . . . . g.63604
CTCTTATTGCAGCAAGTAGCATCCCAGGAAGATATCTTACTGAAAACAGCAGCCCCAAAC c.3060
L L L Q Q V A S Q E D I L L K T A A P N p.1020
. . . . . | 21 g.64490
CTACGAGCACTGGAGAACTTAAAGACTGTCAGAGACAAGTTTCAAGAGTCCACAGATG | CT c.3120
L R A L E N L K T V R D K F Q E S T D A | p.1040
. . . . . . g.64550
TTTGAGGCCAGCAGAAAGGAAGCCAGACTGTGTAGGCAAGAGTTCGAGCAAGTGAAAAAA c.3180
F E A S R K E A R L C R Q E F E Q V K K p.1060
. . . . . . g.64610
AGGAGATACGATCTTTTCACCCAGTGTTTTGAGCATGTCTCAATCTCAATTGATCAAATC c.3240
R R Y D L F T Q C F E H V S I S I D Q I p.1080
. . . | 22 . . . g.66045
TACAAGAAGCTCTGCAGAAACAACAGCGCCCAA | GCATTTCTTAGCCCAGAGAACCCTGAA c.3300
Y K K L C R N N S A Q | A F L S P E N P E p.1100
. . . . . . g.66105
GAACCTTACTTGGAGGGAATTAGCTATAACTGTGTGGCCCCAGGCAAACGGTTTATGCCA c.3360
E P Y L E G I S Y N C V A P G K R F M P p.1120
. . . . . . g.66165
ATGGACAATTTGTCAGGGGGAGAAAAGTGTGTGGCAGCCTTGGCTCTCCTGTTTGCTGTG c.3420
M D N L S G G E K C V A A L A L L F A V p.1140
| 23 . . . . . . g.68877
CACAG | TTTTCGTCCTGCCCCATTCTTTGTTTTAGATGAAGTGGATGCAGCCCTAGACAAT c.3480
H S | F R P A P F F V L D E V D A A L D N p.1160
. | 24 . . . . . g.73095
ACTAACATAGGCAAA | GTGTCAAGTTACATCAAAGAGCAAACTCAAGACCAGTTTCAGATG c.3540
T N I G K | V S S Y I K E Q T Q D Q F Q M p.1180
. . . . . . g.73155
ATAGTCATCTCCCTAAAAGAAGAGTTCTATTCCAGAGCCGACGCGCTGATCGGCATCTAT c.3600
I V I S L K E E F Y S R A D A L I G I Y p.1200
| 25 . . . . . . g.74016
CCTGAG | TACGATGACTGCATGTTCAGCCGAGTTTTGACCCTAGATCTTTCTCAGTATCCA c.3660
P E | Y D D C M F S R V L T L D L S Q Y P p.1220
. . . . g.74064
GACACTGAAGGCCAAGAAAGCAGCAAGAGACACGGAGAGTCCCGCTAG c.3708
D T E G Q E S S K R H G E S R X p.1235
. . . . . . g.74124
gggcagtcctgcagcagtcacctgatcactgttcagttcccactctaatactcacacagc c.*60
. . . . . . g.74184
tcctccacaggagacttctggagcaagcaggaccagcctggtgcaccctttaagagaaac c.*120
. . . . . . g.74244
cttagtcgttctagccaaagaggctgtggctcactttagttgagtgttcagacctcattc c.*180
. . . . . . g.74304
tagtagggaaagttttcagtgagagctggtgtcaaatgagtttttaaaaaacaaacaaaa c.*240
. . . . . . g.74364
ggtacaattttgtactataattctaacttctattttgaaataagctagtttggttggaaa c.*300
. . . . . . g.74424
aattttgaattcagcttcatcttcactctgatcttgccttgcacccaagtaatcttgaag c.*360
. . . . . . g.74484
ggaacttctcttggtttttaaacatactagttataagattgttaataaactgttgaacct c.*420
. . . . . . g.74544
ggcttttgggaaattgtttcagagaaactatgttagtattgaaaatatcaataaaaaatg c.*480
. g.74557
ttctaatttcaaa c.*493
(downstream sequence)
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