(used for variant description)
(last modified September 3, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_003079.4 in the SMARCE1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032163.1, covering SMARCE1 transcript NM_003079.4.
(upstream sequence)
g.5004
gctc c.-121
. . . . . . g.5064
cggacgcgaggggcggggcgagcgcgggacaaagggaagcgaagccggagctgcgggcgc c.-61
. . | 02 . . . . g.7049
tttttctgcccgcgg | tgtctcagattcattcttaaggaactgagaacttaatcttccaaa c.-1
| 03. . . . . | 04 . g.10301
ATGTCAA | AAAGACCATCTTATGCCCCACCTCCCACCCCAGCTCCTGCAACA | CAAATGCCC c.60
M S K | R P S Y A P P P T P A P A T | Q M P p.20
. . . . . . g.10361
AGCACACCAGGGTTTGTGGGATACAATCCATACAGTCATCTCGCCTACAACAACTACAGG c.120
S T P G F V G Y N P Y S H L A Y N N Y R p.40
. . . | 05 . . . g.15303
CTGGGAGGGAACCCGGGCACCAACAGCCGGGTCACG | GCATCCTCTGGTATCACGATTCCA c.180
L G G N P G T N S R V T | A S S G I T I P p.60
. . . . . | 06. g.16328
AAACCCCCAAAGCCACCAGATAAGCCGCTGATGCCCTACATGAGGTACAGCAGAAAG | GTC c.240
K P P K P P D K P L M P Y M R Y S R K | V p.80
. . . . . . g.16388
TGGGACCAAGTAAAGGCTTCCAACCCTGACCTAAAGTTGTGGGAGATTGGCAAGATTATT c.300
W D Q V K A S N P D L K L W E I G K I I p.100
. . . . . . g.16448
GGTGGCATGTGGCGAGATCTCACTGATGAAGAAAAACAAGAATATTTAAACGAATACGAA c.360
G G M W R D L T D E E K Q E Y L N E Y E p.120
| 07 . . . . . g.16800
GCAGAAAAG | ATAGAGTACAATGAATCTATGAAGGCCTATCATAATTCCCCCGCGTACCTT c.420
A E K | I E Y N E S M K A Y H N S P A Y L p.140
. . . . . . g.16860
GCTTACATAAATGCAAAAAGTCGTGCAGAAGCTGCTTTAGAGGAAGAAAGTCGACAGAGA c.480
A Y I N A K S R A E A A L E E E S R Q R p.160
. . . . . . g.16920
CAATCTCGCATGGAGAAAGGAGAACCGTACATGAGCATTCAGCCTGCTGAAGATCCAGAT c.540
Q S R M E K G E P Y M S I Q P A E D P D p.180
| 08 . . . . . . g.20543
G | ATTATGATGATGGCTTTTCAATGAAGCATACAGCCACCGCCCGTTTCCAGAGAAACCAC c.600
D | Y D D G F S M K H T A T A R F Q R N H p.200
. . . . . . g.20603
CGCCTCATCAGTGAAATTCTTAGTGAGAGTGTGGTGCCAGACGTTCGGTCAGTTGTCACA c.660
R L I S E I L S E S V V P D V R S V V T p.220
. . . . . | 09 . g.21164
ACAGCTAGAATGCAGGTCCTCAAACGGCAGGTCCAGTCCTTAATGGTTCATCAG | CGAAAA c.720
T A R M Q V L K R Q V Q S L M V H Q | R K p.240
. . . . . . g.21224
CTAGAAGCTGAACTTCTTCAAATAGAGGAACGACACCAGGAGAAGAAGAGGAAATTCCTG c.780
L E A E L L Q I E E R H Q E K K R K F L p.260
. . . | 10 . . . g.21951
GAAAGCACAGATTCATTTAACAATGAACTTAAAAGG | TTGTGCGGTCTGAAAGTAGAAGTG c.840
E S T D S F N N E L K R | L C G L K V E V p.280
. . . . . . g.22011
GATATGGAGAAAATTGCAGCTGAGATTGCACAGGCAGAGGAACAGGCCCGCAAAAGGCAG c.900
D M E K I A A E I A Q A E E Q A R K R Q p.300
. . . . . . g.22071
GAGGAAAGGGAGAAGGAGGCCGCAGAGCAAGCTGAGCGCAGTCAGAGCAGCATCGTTCCT c.960
E E R E K E A A E Q A E R S Q S S I V P p.320
. . . . . . g.22131
GAGGAAGAACAAGCAGCTAACAAAGGCGAGGAGAAGAAAGACGACGAGAACATTCCGATG c.1020
E E E Q A A N K G E E K K D D E N I P M p.340
| 11. . . . . . g.23911
GAGACAG | AGGAGACACACCTTGAAGAAACAACAGAGAGCCAACAGAATGGTGAAGAAGGC c.1080
E T E | E T H L E E T T E S Q Q N G E E G p.360
. . . . . . g.23971
ACGTCTACTCCTGAGGACAAGGAGAGTGGGCAGGAGGGGGTCGACAGTATGGCAGAGGAA c.1140
T S T P E D K E S G Q E G V D S M A E E p.380
. . . . . . g.24031
GGAACCAGTGATAGTAACACTGGCTCGGAGAGCAACAGTGCAACAGTGGAGGAGCCACCA c.1200
G T S D S N T G S E S N S A T V E E P P p.400
. . . g.24067
ACAGATCCCATACCAGAAGATGAGAAAAAAGAATAA c.1236
T D P I P E D E K K E X p.411
. . . . . . g.24127
gtgttgccttgttttgtgtgttctaaatactttttttaatgaaaaaatgttttttggttt c.*60
. . . . . . g.24187
taatggtgttacgtggtttgtgtattaattttttttcttgtccatatcacaccaccaaag c.*120
. . . . . . g.24247
gcttttggaccatttagcatcatgagcctaatggctcagtcagtcacctttcttaagtgt c.*180
. . . . . . g.24307
tgtgaagatggctcttttctttggatcttgtttctagccctcaactgctgaaagcctcag c.*240
. . . . . . g.24367
aatttagattaattgagaaaacacccacctcttttagagaattatcctttgatgctgcag c.*300
. . . . . . g.24427
aatctactcttacaatgccttcctacagctcactggggtgcttaccaaagccatagcttt c.*360
. . . . . . g.24487
aaaccttcccagtccccatcagtagcttcctgaaagtctcctctcttgtttacttctgca c.*420
. . . . . . g.24547
aagggtagcttcttaaaaacgtgatcatgtatgagtatgtatttgttcacttaccctttt c.*480
. . . . . . g.24607
ttacttttaatcaatgtcagataccaagagttgtgttaagctgagtgtagtgtgtaacta c.*540
. . . . . . g.24667
actacacttggatcttactgatccagaaatagtccccatagttagagtagttacttatga c.*600
. . . . . . g.24727
agtggttattaaagtgaacacagcacatatacattatctatactgctttttgttatgatt c.*660
. . . . . . g.24787
aatactgggtatgttctggtaaatccatccttattgtatagaaaaaaaattactttttta c.*720
. . . . . . g.24847
ccaggttttccaaagacagaatagatcacaaagctcaaggaatttaatattcttgtaatg c.*780
. . . . . . g.24907
gactagataattcaaactgattagcccattccagaagaaaaacagctgggaattaagtta c.*840
. . . . . . g.24967
atccacttgaaattgttttacaataatcagaacatccaaacctcaaggctcaggatccca c.*900
. . . . . . g.25027
tagaccagagcccacctttttgataaacttagtaaagtcttggagactagaagcaagata c.*960
. . . . . . g.25087
gtttgtgacacataagcttcccaaaaactagaatagatttttactgaatagtggtatatc c.*1020
. . . . g.25132
tgatggtatatgtttcttaaaggtccaaatgtaataaaaaaaaaa c.*1065
(downstream sequence)
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