(used for variant description)
(last modified January 27, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_001128430.1 in the SMARCAD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031945.1, covering SMARCAD1 transcript NM_001128430.1.
(upstream sequence)
. . . . . g.5057
atcattacgcgctcttaaggtttctccgtggtgttttggaaggtcccggcacggcta c.-121
. . . . . . g.5117
ccgtcgccccacgctaggaaattttttttttattttcaacctttgttacatagcactgag c.-61
. . | 02 . . . . g.5787
gctacaagatc | atagttcatttaaagcccccatccctgcaaggtggtgctttctaccaat c.-1
. . . . . . g.5847
ATGAATCTTTTCAACCTGGACCGTTTTCGCTTTGAGAAAAGGAATAAGATTGAGGAAGCG c.60
M N L F N L D R F R F E K R N K I E E A p.20
. . . . . . g.5907
CCCGAAGCAACCCCTCAACCTTCCCAGCCTGGCCCTTCTTCACCAATTTCTCTTAGTGCT c.120
P E A T P Q P S Q P G P S S P I S L S A p.40
. . . . . . g.5967
GAAGAGGAGAATGCTGAAGGGGAAGTTAGCAGGGCAAACACTCCTGATTCAGATATAACT c.180
E E E N A E G E V S R A N T P D S D I T p.60
. | 03 . . . . . g.23561
GAAAAAACAG | AAGATTCTAGTGTTCCAGAAACTCCAGATAATGAAAGAAAAGCAAGTATA c.240
E K T E | D S S V P E T P D N E R K A S I p.80
. . . . . . g.23621
TCATATTTCAAAAATCAAAGAGGAATACAGTATATTGATTTGTCTTCTGATAGTGAAGAT c.300
S Y F K N Q R G I Q Y I D L S S D S E D p.100
. . . . . . g.23681
GTCGTTTCCCCAAATTGCTCCAATACAGTTCAAGAGAAAACATTCAACAAAGATACAGTG c.360
V V S P N C S N T V Q E K T F N K D T V p.120
| 04 . . . . . g.31398
ATTATAGT | TTCTGAGCCATCTGAAGATGAAGAGTCCCAAGGCCTTCCTACCATGGCACGT c.420
I I V | S E P S E D E E S Q G L P T M A R p.140
. . . . . . g.31458
AGAAATGATGATATTTCAGAACTGGAAGACCTTTCGGAATTGGAAGACCTTAAAGATGCT c.480
R N D D I S E L E D L S E L E D L K D A p.160
. . . . . | 05. g.34347
AAACTTCAGACTTTGAAGGAACTTTTTCCACAAAGAAGTGACAATGATTTACTTAAG | TTG c.540
K L Q T L K E L F P Q R S D N D L L K | L p.180
. . . . . . g.34407
ATTGAATCAACAAGCACTATGGATGGAGCAATTGCTGCTGCCTTGCTGATGTTTGGTGAT c.600
I E S T S T M D G A I A A A L L M F G D p.200
| 06 . . . . . . g.38354
GCAG | GTGGTGGGCCCAGGAAAAGAAAATTATCTTCTTCTTCAGAGCCATATGAGGAAGAT c.660
A G | G G P R K R K L S S S S E P Y E E D p.220
. . . . | 07 . . g.47061
GAATTTAATGATGATCAATCTATAAAAAAGACAAGACTGGATCAT | GGAGAGGAATCAAAT c.720
E F N D D Q S I K K T R L D H | G E E S N p.240
. . . . . . g.47121
GAGTCTGCAGAATCTAGCAGTAATTGGGAAAAGCAGGAAAGTATTGTACTGAAATTGCAA c.780
E S A E S S S N W E K Q E S I V L K L Q p.260
. . | 08. . . . g.48177
AAGGAATTTCCCAATTTTGATAAACAG | GAACTTAGAGAAGTACTCAAGGAACATGAATGG c.840
K E F P N F D K Q | E L R E V L K E H E W p.280
. . . . | 09 . g.50019
ATGTACACAGAAGCTTTAGAATCTCTAAAAGTGTTTGCAGAAGACCAAG | ATATGCAATAT c.900
M Y T E A L E S L K V F A E D Q D | M Q Y p.300
. . . . . . g.50079
GTATCACAAAGTGAGGTTCCAAATGGAAAAGAAGTTTCTTCAAGAAGTCAAAATTACCCT c.960
V S Q S E V P N G K E V S S R S Q N Y P p.320
. . . . . . g.50139
AAAAATGCAACTAAAACAAAACTAAAACAGAAATTTTCAATGAAAGCACAAAATGGCTTT c.1020
K N A T K T K L K Q K F S M K A Q N G F p.340
. . . . . . g.50199
AACAAGAAACGTAAAAAAAATGTTTTTAATCCAAAGAGAGTTGTTGAAGACTCTGAATAT c.1080
N K K R K K N V F N P K R V V E D S E Y p.360
. . . . . . g.50259
GATTCAGGTTCTGATGTCGGTAGTTCACTAGATGAGGACTATAGTAGTGGTGAAGAAGTG c.1140
D S G S D V G S S L D E D Y S S G E E V p.380
. . . . . . g.50319
ATGGAGGATGGCTATAAAGGTAAAATTCTTCACTTCCTTCAAGATGCTTCAATTGGTGAA c.1200
M E D G Y K G K I L H F L Q D A S I G E p.400
. . . . . . g.50379
CTTACTTTGATTCCTCAGTGTTCTCAGAAAAAGGCTCAGAAGATAACAGAACTCCGGCCC c.1260
L T L I P Q C S Q K K A Q K I T E L R P p.420
. . | 10 . . . . g.62138
TTTAATAGTTGGGAGGCTCTG | TTCACAAAGATGTCCAAAACTAATGGCTTATCAGAAGAT c.1320
F N S W E A L | F T K M S K T N G L S E D p.440
. . . . . . g.62198
TTGATATGGCACTGTAAAACACTGATCCAAGAAAGAGATGTAGTTATAAGGCTTATGAAC c.1380
L I W H C K T L I Q E R D V V I R L M N p.460
. . . . . . g.62258
AAATGTGAAGACATTTCAAATAAATTGACCAAACAAGTTACCATGCTTACTGGAAATGGA c.1440
K C E D I S N K L T K Q V T M L T G N G p.480
. . . . | 11 . . g.68139
GGTGGATGGAACATAGAACAACCTTCCATTCTAAACCAAAG | TTTGTCACTCAAGCCCTAT c.1500
G G W N I E Q P S I L N Q S | L S L K P Y p.500
. . . . . . g.68199
CAGAAGGTTGGTTTGAATTGGCTGGCATTGGTACATAAACATGGACTTAATGGCATTTTG c.1560
Q K V G L N W L A L V H K H G L N G I L p.520
. | 12 . . . . . g.71057
GCAGATGAAATG | GGCCTAGGAAAAACTATTCAAGCCATTGCATTTCTGGCATACCTCTAT c.1620
A D E M | G L G K T I Q A I A F L A Y L Y p.540
. . . . . | 13 . g.72138
CAGGAGGGTAATAATGGTCCTCATTTGATCGTTGTTCCAGCTTCAACTATAG | ATAACTGG c.1680
Q E G N N G P H L I V V P A S T I D | N W p.560
. . . . . | 14 . g.72290
TTAAGGGAAGTTAATTTATGGTGCCCTACTTTGAAGGTCCTCTGTTACTATG | GTTCTCAA c.1740
L R E V N L W C P T L K V L C Y Y G | S Q p.580
. . . . . . g.72350
GAAGAACGTAAACAAATTAGATTTAACATTCATAGTAGATATGAAGATTACAATGTAATT c.1800
E E R K Q I R F N I H S R Y E D Y N V I p.600
| 15 . . . . . g.73783
GTGACCAC | ATATAACTGTGCGATCAGCAGTTCTGATGACCGTAGTCTGTTTCGACGGCTG c.1860
V T T | Y N C A I S S S D D R S L F R R L p.620
. . . . . . g.73843
AAACTTAATTACGCAATTTTTGATGAGGGCCATATGCTGAAGAATATGGGCTCCATTCGC c.1920
K L N Y A I F D E G H M L K N M G S I R p.640
. . | 16 . . . . g.74450
TACCAGCACCTTATGACAATTAAT | GCAAATAACCGTTTGCTGCTCACAGGCACACCTGTA c.1980
Y Q H L M T I N | A N N R L L L T G T P V p.660
. . . . . . g.74510
CAGAACAATCTGTTAGAACTCATGTCGCTGTTGAATTTTGTTATGCCACACATGTTTAGT c.2040
Q N N L L E L M S L L N F V M P H M F S p.680
. . . . | 17 . . g.75832
AGTAGCACCAGTGAAATACGAAGAATGTTTTCCTCTAAGACA | AAATCAGCAGATGAGCAA c.2100
S S T S E I R R M F S S K T | K S A D E Q p.700
. . . . . . g.75892
AGCATATATGAAAAGGAGAGAATAGCACATGCAAAACAAATTATAAAGCCATTTATTCTC c.2160
S I Y E K E R I A H A K Q I I K P F I L p.720
. | 18 . . . . g.76050
AGAAGAGTAAAAGAAGAG | GTTCTCAAGCAGTTACCCCCCAAGAAAGATCGAATTGAGTTG c.2220
R R V K E E | V L K Q L P P K K D R I E L p.740
. . . . . . g.76110
TGTGCAATGTCGGAGAAGCAGGAGCAACTCTATTTGGGTCTTTTCAACAGATTGAAAAAA c.2280
C A M S E K Q E Q L Y L G L F N R L K K p.760
. | 19 . . . . . g.76359
TCTATCAATAACTTGG | TCACAGAAAAAAACACAGAAATGTGCAATGTCATGATGCAGTTG c.2340
S I N N L V | T E K N T E M C N V M M Q L p.780
. . . . . . g.76419
AGGAAAATGGCCAATCATCCTTTATTACATCGCCAATATTACACAGCTGAAAAACTCAAG c.2400
R K M A N H P L L H R Q Y Y T A E K L K p.800
. . | 20 . . . . g.78020
GAAATGTCTCAGCTTATGCTAAAG | GAACCTACACATTGTGAGGCTAACCCTGACCTGATC c.2460
E M S Q L M L K | E P T H C E A N P D L I p.820
. . . . . . g.78080
TTTGAAGATATGGAAGTTATGACAGACTTCGAACTACATGTACTTTGTAAACAGTACCGA c.2520
F E D M E V M T D F E L H V L C K Q Y R p.840
. . . . . . g.78140
CACATTAATAACTTTCAGTTAGACATGGACTTGATTTTAGATTCTGGAAAATTTCGAGTT c.2580
H I N N F Q L D M D L I L D S G K F R V p.860
. . . | 21 . . . g.78891
TTAGGATGCATCTTGTCTGAATTGAAACAGAAG | GGTGATAGAGTTGTGTTATTTAGCCAA c.2640
L G C I L S E L K Q K | G D R V V L F S Q p.880
. . . . . . g.78951
TTTACCATGATGCTGGATATCTTAGAGGTTCTATTAAAACATCATCAGCATAGGTACCTC c.2700
F T M M L D I L E V L L K H H Q H R Y L p.900
. . . | 22 . . . g.80541
AGATTAGATGGAAAGACTCAGATTTCTGAAAG | GATTCATCTAATTGATGAGTTTAATACC c.2760
R L D G K T Q I S E R | I H L I D E F N T p.920
. . . . . . g.80601
GATATGGATATCTTTGTGTTTCTGCTATCAACAAAAGCTGGTGGATTAGGAATAAATCTG c.2820
D M D I F V F L L S T K A G G L G I N L p.940
. . . . . . g.80661
ACTTCAGCAAATGTTGTTATACTTCACGATATTGACTGTAATCCTTATAATGACAAACAA c.2880
T S A N V V I L H D I D C N P Y N D K Q p.960
. . . | 23 . . . g.82377
GCAGAAGATAGATGCCATAGAGTAGGCCAGACTAA | AGAAGTACTAGTTATAAAACTAATA c.2940
A E D R C H R V G Q T K | E V L V I K L I p.980
. . . . . . g.82437
AGCCAAGGGACGATTGAAGAATCCATGCTAAAAATTAACCAACAGAAATTGAAACTAGAA c.3000
S Q G T I E E S M L K I N Q Q K L K L E p.1000
. . | 24 . . . . g.86900
CAGGATATGACTACAGTAGATGAAG | GTGATGAAGGGAGTATGCCAGCAGATATAGCCACA c.3060
Q D M T T V D E G | D E G S M P A D I A T p.1020
. . g.86927
TTACTAAAAACATCAATGGGCCTGTGA c.3087
L L K T S M G L X p.1028
. . . . . . g.86987
aataagaactgtgaactctcaattgatgaggaaatatcaacttggtgcactcaaggacat c.*60
. . . . . . g.87047
ttacattatgatgaccatggggtttatgaacatttataactttttataatttccatatta c.*120
. . . . . . g.87107
catttctcatagtatggacaactttttgccactaactgaattctccaaatactcacacgt c.*180
. . . . . . g.87167
gaaatttcaaaaaagaagccacaaatatgtagttctgaagatgttgaataatcattttac c.*240
. . . . . . g.87227
aaagcagttttctgaatggggattagttggtgattgtttgtaacaaatatgctaatgctt c.*300
. . . . . . g.87287
tagaaatgtcagtatttttgtaattatttctacctccaaatatatatatattgtctttca c.*360
. . . . . . g.87347
ctggataatgtgtgtagatttttacatgtgccttatttgacaatgcttatgtcttgtttt c.*420
. . . . . . g.87407
tgcttgtctcatttgaagttcttttttattatgttaaagaatgcagctgtatagattata c.*480
. . . . . . g.87467
tagctttcattttattgctatttgaagcagatgttcaccaatgtcagcaagaactcaacc c.*540
. . . . . . g.87527
tgaatttaaaggtggcattccatatactaacatcccccaggtcctctcaagtacttctgc c.*600
. . . . . . g.87587
tgaaacaaatttatttggctaggcactaagttgttttccagtgaatagtaactaaagaag c.*660
. . . . . . g.87647
cccctaccttgctccatggattaattccttctgttcattttccaactgcactaattgtgc c.*720
. . . . . . g.87707
atattactctgcctaatcttgtgcatgttttcattgatttccctctcccggcttttgctt c.*780
. . . . . . g.87767
ctcttgaaactgttgcccagtcacttctgctccaattctcttcctctctaaatagtagtt c.*840
. . . . . . g.87827
tattactgccacatctccatgcatcagcaaaatgttggtgacatttttctagcctggcag c.*900
. . . . . . g.87887
aacagattacttaaagctatttcatttcaaagcagactgaatgtgacttcatctaaaggc c.*960
. . . . . . g.87947
agcattaggtactgcatggaaataggtcattaacttgaaactcttatcaaaatatatttt c.*1020
. . . . . . g.88007
accagtttccagaatttccagtacaggaccgcctgaagagagagccattgttcaattcca c.*1080
. . . . . . g.88067
attcagtgtgagtgacaaagtgaaatttagaagtgaagttgtctatttgatatttaactc c.*1140
. . . . . . g.88127
tttattaaatctttctttaaatttctgcctgtcagtctatattgctgtttttattataca c.*1200
. . . . . . g.88187
tcagtttctttgtataacttgtgagttccatgtgttttgtttttattatgtaaatatcat c.*1260
. . . . . . g.88247
tataaataaacttatttataaatcaaagatttgttaatttttggaaatcatgcttttcaa c.*1320
. . . . . . g.88307
agcatcctaacttgctaagatgctaggtagtacgaccctctggatttggaaggcaaataa c.*1380
. . . . . . g.88367
aactcttacagtgattatttagatattaaagactgagaactcacggcttaaccccagtct c.*1440
. . . . . . g.88427
tgatggtatattgaacagactgaatatattttaccattacagggctaaaaggagtcttca c.*1500
. . . . . . g.88487
tgtgttaatactacctccttgtacatcactatacccaaatcagttattcaaattgttagg c.*1560
. . . . . . g.88547
aattttaccttttaaaatctcataatggatatctcatgttttctgtattaatgtattttc c.*1620
. . . . . . g.88607
aatgataggctgtttctttttttgttgttattgttgttgttgttatatccatacttttat c.*1680
. . . . . . g.88667
ctctaatgaaatgtagttgggttcttcctgtaatgcgctattatgtcttgggcttaataa c.*1740
. g.88685
aaatatttgtgatcataa c.*1758
(downstream sequence)
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