(used for variant description)
(last modified September 3, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_003073.3 in the SMARCB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009303.1, covering SMARCB1 transcript NM_003073.3.
(upstream sequence)
. . g.5027
aacgccagcgcctgcgcactgagggcg c.-181
. . . . . . g.5087
gcctggtcgtcgtctgcggcggcggcggcggctgaggagcccggctgaggcgccagtacc c.-121
. . . . . . g.5147
cggcccggtccgcatttcgccttccggcttcggtttccctcggcccagcacgccccggcc c.-61
. . . . . . g.5207
ccgccccagccctcctgatccctcgcagcccggctccggccgcccgcctctgccgccgca c.-1
. . . . . . g.5267
ATGATGATGATGGCGCTGAGCAAGACCTTCGGGCAGAAGCCCGTGAAGTTCCAGCTGGAG c.60
M M M M A L S K T F G Q K P V K F Q L E p.20
. . . | 02 . . . g.9820
GACGACGGCGAGTTCTACATGATCGGCTCCGAG | GTGGGAAACTACCTCCGTATGTTCCGA c.120
D D G E F Y M I G S E | V G N Y L R M F R p.40
. . . . . . g.9880
GGTTCTCTGTACAAGAGATACCCCTCACTCTGGAGGCGACTAGCCACTGTGGAAGAGAGG c.180
G S L Y K R Y P S L W R R L A T V E E R p.60
. . . . . | 03 . g.11604
AAGAAAATAGTTGCATCGTCACATGGTAAAAAAACAAAACCTAACACTAAGG | ATCACGGA c.240
K K I V A S S H G K K T K P N T K D | H G p.80
. . . . . . g.11664
TACACGACTCTAGCCACCAGTGTGACCCTGTTAAAAGCCTCGGAAGTGGAAGAGATTCTG c.300
Y T T L A T S V T L L K A S E V E E I L p.100
. . . . . . g.11724
GATGGCAACGATGAGAAGTACAAGGCTGTGTCCATCAGCACAGAGCCCCCCACCTACCTC c.360
D G N D E K Y K A V S I S T E P P T Y L p.120
| 04 . . . . . . g.19039
AG | GGAACAGAAGGCCAAGAGGAACAGCCAGTGGGTACCCACCCTGCCCAACAGCTCCCAC c.420
R | E Q K A K R N S Q W V P T L P N S S H p.140
. . . . . . g.19099
CACTTAGATGCCGTGCCATGCTCCACAACCATCAACAGGAACCGCATGGGCCGAGACAAG c.480
H L D A V P C S T T I N R N R M G R D K p.160
. . | 05 . . . . g.21372
AAGAGAACCTTCCCCCTTTG | CTTTGATGACCATGACCCAGCTGTGATCCATGAGAACGCA c.540
K R T F P L C | F D D H D P A V I H E N A p.180
. . . . . . g.21432
TCTCAGCCCGAGGTGCTGGTCCCCATCCGGCTGGACATGGAGATCGATGGGCAGAAGCTG c.600
S Q P E V L V P I R L D M E I D G Q K L p.200
. . | 06 . . . g.34839
CGAGACGCCTTCACCTGGAACATGAATG | AGAAGTTGATGACGCCTGAGATGTTTTCAGAA c.660
R D A F T W N M N E | K L M T P E M F S E p.220
. . . . . . g.34899
ATCCTCTGTGACGATCTGGATTTGAACCCGCTGACGTTTGTGCCAGCCATCGCCTCTGCC c.720
I L C D D L D L N P L T F V P A I A S A p.240
. . . . . . g.34959
ATCAGACAGCAGATCGAGTCCTACCCCACGGACAGCATCCTGGAGGACCAGTCAGACCAG c.780
I R Q Q I E S Y P T D S I L E D Q S D Q p.260
. | 07 . . . . . g.43307
CGCGTCATCATCAAG | CTGAACATCCATGTGGGAAACATTTCCCTGGTGGACCAGTTTGAG c.840
R V I I K | L N I H V G N I S L V D Q F E p.280
. . . . . . g.43367
TGGGACATGTCAGAGAAGGAGAACTCACCAGAGAAGTTTGCCCTGAAGCTGTGCTCGGAG c.900
W D M S E K E N S P E K F A L K L C S E p.300
. . . . . . g.43427
CTGGGGTTGGGCGGGGAGTTTGTCACCACCATCGCATACAGCATCCGGGGACAGCTGAGC c.960
L G L G G E F V T T I A Y S I R G Q L S p.320
. . | 08 . . . . g.51643
TGGCATCAGAAGACCTACGCCTTCAG | CGAGAACCCTCTGCCCACAGTGGAGATTGCCATC c.1020
W H Q K T Y A F S | E N P L P T V E I A I p.340
. . . . . . g.51703
CGGAACACGGGCGATGCGGACCAGTGGTGCCCACTGCTGGAGACTCTGACAGACGCTGAG c.1080
R N T G D A D Q W C P L L E T L T D A E p.360
. . . | 09 . . g.52200
ATGGAGAAGAAGATCCGCGACCAGGACAGGAACACGAG | GCGGATGAGGCGTCTTGCCAAC c.1140
M E K K I R D Q D R N T R | R M R R L A N p.380
. g.52218
ACGGCCCCGGCCTGGTAA c.1158
T A P A W X p.385
. . . . . . g.52278
ccagcccatcagcacacggctcccacggagcatctcagaagattgggccgcctctcctcc c.*60
. . . . . . g.52338
atcttctggcaaggacagaggcgaggggacagcccagcgccatcctgaggatcgggtggg c.*120
. . . . . . g.52398
ggtggagtgggggcttccaggtggcccttcccggcacacattccatttgttgagccccag c.*180
. . . . . . g.52458
tcctgccccccaccccaccctccctacccctccccagtctctggggtcaggaagaaacct c.*240
. . . . . . g.52518
tattttaggttgtgttttgtttttgtataggagccccaggcagggctagtaacagttttt c.*300
. . . g.52556
aaataaaaggcaacaggtcatgttcaatttcttcaaca c.*338
(downstream sequence)
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