(used for variant description)
(last modified December 8, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_003072.3 in the SMARCA4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering SMARCA4 transcript NM_003072.3.
(upstream sequence)
. . . . g.5044
ggagaggccgccgcggtgctgagggggaggggagccggcgagcg c.-241
. . . . . . g.5104
cgcgcgcagcgggggcgcgggtggcgcgcgtgtgtgtgaagggggggcggtggccgaggc c.-181
. . . . . . g.5164
gggcgggcgcgcgcgcgaggcttcccctcgtttggcggcggcggcggcttctttgtttcg c.-121
. . . . . . g.5224
tgaagagaagcgagacgcccattctgcccccggccccgcgcggaggggcgggggaggcgc c.-61
. . . | 02 . . g.28230
cgggaagtcgacggcgccggcggctcctg | caggaggccactgtctgcagctcccgtgaag c.-1
. . . . . . g.28290
ATGTCCACTCCAGACCCACCCCTGGGCGGAACTCCTCGGCCAGGTCCTTCCCCGGGCCCT c.60
M S T P D P P L G G T P R P G P S P G P p.20
. . . . . . g.28350
GGCCCTTCCCCTGGAGCCATGCTGGGCCCTAGCCCGGGTCCCTCGCCGGGCTCCGCCCAC c.120
G P S P G A M L G P S P G P S P G S A H p.40
. . . . . . g.28410
AGCATGATGGGGCCCAGCCCAGGGCCGCCCTCAGCAGGACACCCCATCCCCACCCAGGGG c.180
S M M G P S P G P P S A G H P I P T Q G p.60
. . . . | 03 . . g.29369
CCTGGAGGGTACCCTCAGGACAACATGCACCAGATGCACAAG | CCCATGGAGTCCATGCAT c.240
P G G Y P Q D N M H Q M H K | P M E S M H p.80
. . . . . . g.29429
GAGAAGGGCATGTCGGACGACCCGCGCTACAACCAGATGAAAGGAATGGGGATGCGGTCA c.300
E K G M S D D P R Y N Q M K G M G M R S p.100
. . . . . | 04 . g.30272
GGGGGCCATGCTGGGATGGGGCCCCCGCCCAGCCCCATGGACCAGCACTCCCAAG | GTTAC c.360
G G H A G M G P P P S P M D Q H S Q G | Y p.120
. . . . . . g.30332
CCCTCGCCCCTGGGTGGCTCTGAGCATGCCTCTAGTCCAGTTCCAGCCAGTGGCCCGTCT c.420
P S P L G G S E H A S S P V P A S G P S p.140
. . . . . . g.30392
TCGGGGCCCCAGATGTCTTCCGGGCCAGGAGGTGCCCCGCTGGATGGTGCTGACCCCCAG c.480
S G P Q M S S G P G G A P L D G A D P Q p.160
. . . . . . g.30452
GCCTTGGGGCAGCAGAACCGGGGCCCAACCCCATTTAACCAGAACCAGCTGCACCAGCTC c.540
A L G Q Q N R G P T P F N Q N Q L H Q L p.180
. . . . . . g.30512
AGAGCTCAGATCATGGCCTACAAGATGCTGGCCAGGGGGCAGCCCCTCCCCGACCACCTG c.600
R A Q I M A Y K M L A R G Q P L P D H L p.200
. . . . . . g.30572
CAGATGGCGGTGCAGGGCAAGCGGCCGATGCCCGGGATGCAGCAGCAGATGCCAACGCTA c.660
Q M A V Q G K R P M P G M Q Q Q M P T L p.220
. . . . . . g.30632
CCTCCACCCTCGGTGTCCGCAACAGGACCCGGCCCTGGCCCTGGCCCTGGCCCCGGCCCG c.720
P P P S V S A T G P G P G P G P G P G P p.240
. . . . | 05 . . g.31003
GGTCCCGGCCCGGCACCTCCAAATTACAGCAGGCCTCATG | GTATGGGAGGGCCCAACATG c.780
G P G P A P P N Y S R P H G | M G G P N M p.260
. . . . . . g.31063
CCTCCCCCAGGACCCTCGGGCGTGCCCCCCGGGATGCCAGGCCAGCCTCCTGGAGGGCCT c.840
P P P G P S G V P P G M P G Q P P G G P p.280
. | 06 . . . . g.31785
CCCAAGCCCTGGCCTGAAG | GACCCATGGCGAATGCTGCTGCCCCCACGAGCACCCCTCAG c.900
P K P W P E G | P M A N A A A P T S T P Q p.300
. . . . . . g.31845
AAGCTGATTCCCCCGCAGCCAACGGGCCGCCCTTCCCCCGCGCCCCCTGCCGTCCCACCC c.960
K L I P P Q P T G R P S P A P P A V P P p.320
. . . . . . g.31905
GCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCGGGCAGCCGGCCCAGCCCGCG c.1020
A A S P V M P P Q T Q S P G Q P A Q P A p.340
. . . . . . g.31965
CCCATGGTGCCACTGCACCAGAAGCAGAGCCGCATCACCCCCATCCAGAAGCCGCGGGGC c.1080
P M V P L H Q K Q S R I T P I Q K P R G p.360
. . . | 07 . . g.33417
CTCGACCCTGTGGAGATCCTGCAGGAGCGCGAGTACAG | GCTGCAGGCTCGCATCGCACAC c.1140
L D P V E I L Q E R E Y R | L Q A R I A H p.380
. . . . . . g.33477
CGAATTCAGGAACTTGAAAACCTTCCCGGGTCCCTGGCCGGGGATTTGCGAACCAAAGCG c.1200
R I Q E L E N L P G S L A G D L R T K A p.400
. . . . | 08 . . g.35243
ACCATTGAGCTCAAGGCCCTCAGGCTGCTGAACTTCCAGAGGCAG | CTGCGCCAGGAGGTG c.1260
T I E L K A L R L L N F Q R Q | L R Q E V p.420
. . . . . . g.35303
GTGGTGTGCATGCGGAGGGACACAGCGCTGGAGACAGCCCTCAATGCTAAGGCCTACAAG c.1320
V V C M R R D T A L E T A L N A K A Y K p.440
. . . . . . g.35363
CGCAGCAAGCGCCAGTCCCTGCGCGAGGCCCGCATCACTGAGAAGCTGGAGAAGCAGCAG c.1380
R S K R Q S L R E A R I T E K L E K Q Q p.460
. . . | 09 . . g.38927
AAGATCGAGCAGGAGCGCAAGCGCCGGCAGAAGCACCAG | GAATACCTCAATAGCATTCTC c.1440
K I E Q E R K R R Q K H Q | E Y L N S I L p.480
. . . . . . g.38987
CAGCATGCCAAGGATTTCAAGGAATATCACAGATCCGTCACAGGCAAAATCCAGAAGCTG c.1500
Q H A K D F K E Y H R S V T G K I Q K L p.500
. . . . . . g.39047
ACCAAGGCAGTGGCCACGTACCATGCCAACACGGAGCGGGAGCAGAAGAAAGAGAACGAG c.1560
T K A V A T Y H A N T E R E Q K K E N E p.520
. . . | 10 . . . g.40318
CGGATCGAGAAGGAGCGCATGCGGAGGCTCATG | GCTGAAGATGAGGAGGGGTACCGCAAG c.1620
R I E K E R M R R L M | A E D E E G Y R K p.540
. . . . . . g.40378
CTCATCGACCAGAAGAAGGACAAGCGCCTGGCCTACCTCTTGCAGCAGACAGACGAGTAC c.1680
L I D Q K K D K R L A Y L L Q Q T D E Y p.560
. . . . . . g.40438
GTGGCTAACCTCACGGAGCTGGTGCGGCAGCACAAGGCTGCCCAGGTCGCCAAGGAGAAA c.1740
V A N L T E L V R Q H K A A Q V A K E K p.580
. . | 11 . . . . g.40611
AAGAAGAAAAAGAAAAAGAAG | AAGGCAGAAAATGCAGAAGGACAGACGCCTGCCATTGGG c.1800
K K K K K K K | K A E N A E G Q T P A I G p.600
. | 12 . . . . . g.47155
CCGGATGGCGAG | CCTCTGGACGAGACCAGCCAGATGAGCGACCTCCCGGTGAAGGTGATC c.1860
P D G E | P L D E T S Q M S D L P V K V I p.620
. . . . . . g.47215
CACGTGGAGAGTGGGAAGATCCTCACAGGCACAGATGCCCCCAAAGCCGGGCAGCTGGAG c.1920
H V E S G K I L T G T D A P K A G Q L E p.640
. . | 13 . . . . g.47455
GCCTGGCTCGAGATGAACCCGGG | GTATGAAGTAGCTCCGAGGTCTGATAGTGAAGAAAGT c.1980
A W L E M N P G | Y E V A P R S D S E E S p.660
. . | 14 . . . . g.52019
GGCTCAGAAGAAGAGGAAGAG | GAGGAGGAGGAAGAGCAGCCGCAGGCAGCACAGCCTCCC c.2040
G S E E E E E | E E E E E Q P Q A A Q P P p.680
. . . . . . g.52079
ACCCTGCCCGTGGAGGAGAAGAAGAAGATTCCAGATCCAGACAGCGATGACGTCTCTGAG c.2100
T L P V E E K K K I P D P D S D D V S E p.700
. . | 15 . . . . g.54496
GTGGACGCGCGGCACATCATTGA | GAATGCCAAGCAAGATGTCGATGATGAATATGGCGTG c.2160
V D A R H I I E | N A K Q D V D D E Y G V p.720
. . . . . . g.54556
TCCCAGGCCCTTGCACGTGGCCTGCAGTCCTACTATGCCGTGGCCCATGCTGTCACTGAG c.2220
S Q A L A R G L Q S Y Y A V A H A V T E p.740
. . . . . | 16 . g.57033
AGAGTGGACAAGCAGTCAGCGCTTATGGTCAATGGTGTCCTCAAACAGTACCAG | ATCAAA c.2280
R V D K Q S A L M V N G V L K Q Y Q | I K p.760
. . . . . . g.57093
GGTTTGGAGTGGCTGGTGTCCCTGTACAACAACAACCTGAACGGCATCCTGGCCGACGAG c.2340
G L E W L V S L Y N N N L N G I L A D E p.780
. . . . . . g.57153
ATGGGCCTGGGGAAGACCATCCAGACCATCGCGCTCATCACGTACCTCATGGAGCACAAA c.2400
M G L G K T I Q T I A L I T Y L M E H K p.800
. . . | 17 . . g.63057
CGCATCAATGGGCCCTTCCTCATCATCGTGCCTCTCTC | AACGCTGTCCAACTGGGCGTAC c.2460
R I N G P F L I I V P L S | T L S N W A Y p.820
. . . . | 18 . . g.63684
GAGTTTGACAAGTGGGCCCCCTCCGTGGTGAAGGTGTCTTACAAG | GGATCCCCAGCAGCA c.2520
E F D K W A P S V V K V S Y K | G S P A A p.840
. . . . . . g.63744
AGACGGGCCTTTGTCCCCCAGCTCCGGAGTGGGAAGTTCAACGTCTTGCTGACGACGTAC c.2580
R R A F V P Q L R S G K F N V L L T T Y p.860
. . . | 19 . . . g.65827
GAGTACATCATCAAAGACAAGCACATCCTCGCCAAG | ATCCGTTGGAAGTACATGATTGTG c.2640
E Y I I K D K H I L A K | I R W K Y M I V p.880
. . . . . . g.65887
GACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCAC c.2700
D E G H R M K N H H C K L T Q V L N T H p.900
. . . . . . g.65947
TATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAG c.2760
Y V A P R R L L L T G T P L Q N K L P E p.920
. . . . . . g.66007
CTCTGGGCGCTGCTCAACTTCCTGCTGCCCACCATCTTCAAGAGCTGCAGCACCTTCGAG c.2820
L W A L L N F L L P T I F K S C S T F E p.940
. . . | 20 . . g.67617
CAGTGGTTTAACGCACCCTTTGCCATGACCGGGGAAAAG | GTGGACCTGAATGAGGAGGAA c.2880
Q W F N A P F A M T G E K | V D L N E E E p.960
. . . . . . g.67677
ACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCCTTCTTGCTCCGACGACTC c.2940
T I L I I R R L H K V L R P F L L R R L p.980
. . . | 21 . . . g.68436
AAGAAGGAAGTCGAGGCCCAGTTGCCCGAAAAG | GTGGAGTACGTCATCAAGTGCGACATG c.3000
K K E V E A Q L P E K | V E Y V I K C D M p.1000
. . . . . . g.68496
TCTGCGCTGCAGCGAGTGCTCTACCGCCACATGCAGGCCAAGGGCGTGCTGCTGACTGAT c.3060
S A L Q R V L Y R H M Q A K G V L L T D p.1020
. . | 22 . . . . g.69539
GGCTCCGAGAAGGACAAGAAG | GGCAAAGGCGGCACCAAGACCCTGATGAACACCATCATG c.3120
G S E K D K K | G K G G T K T L M N T I M p.1040
. . . . | 23 . g.70390
CAGCTGCGGAAGATCTGCAACCACCCCTACATGTTCCAGCACATCGAG | GAGTCCTTTTCC c.3180
Q L R K I C N H P Y M F Q H I E | E S F S p.1060
. . . | 24 . . . g.71887
GAGCACTTGGGGTTCACTGGCGGCATTGTCCAAGG | GCTGGACCTGTACCGAGCCTCGGGT c.3240
E H L G F T G G I V Q G | L D L Y R A S G p.1080
. . . . . . g.71947
AAATTTGAGCTTCTTGATAGAATTCTTCCCAAACTCCGAGCAACCAACCACAAAGTGCTG c.3300
K F E L L D R I L P K L R A T N H K V L p.1100
. . . . . . g.72007
CTGTTCTGCCAAATGACCTCCCTCATGACCATCATGGAAGATTACTTTGCGTATCGCGGC c.3360
L F C Q M T S L M T I M E D Y F A Y R G p.1120
. . | 25 . . . . g.74846
TTTAAATACCTCAGGCTTGATG | GAACCACGAAGGCGGAGGACCGGGGCATGCTGCTGAAA c.3420
F K Y L R L D G | T T K A E D R G M L L K p.1140
. . . . . . g.74906
ACCTTCAACGAGCCCGGCTCTGAGTACTTCATCTTCCTGCTCAGCACCCGGGCTGGGGGG c.3480
T F N E P G S E Y F I F L L S T R A G G p.1160
. . . . . . g.74966
CTCGGCCTGAACCTCCAGTCGGCAGACACTGTGATCATTTTTGACAGCGACTGGAATCCT c.3540
L G L N L Q S A D T V I I F D S D W N P p.1180
| 26 . . . . . . g.77422
CACCAG | GACCTGCAAGCGCAGGACCGAGCCCACCGCATCGGGCAGCAGAACGAGGTGCGT c.3600
H Q | D L Q A Q D R A H R I G Q Q N E V R p.1200
. . . . . . g.77482
GTGCTCCGCCTCTGCACCGTCAACAGCGTGGAGGAGAAGATCCTAGCTGCAGCCAAGTAC c.3660
V L R L C T V N S V E E K I L A A A K Y p.1220
. . . . . . g.77542
AAGCTCAACGTGGACCAGAAGGTGATCCAGGCCGGCATGTTCGACCAGAAGTCCTCCAGC c.3720
K L N V D Q K V I Q A G M F D Q K S S S p.1240
. . . . . | 27 . g.77851
CATGAGCGGCGCGCCTTCCTGCAGGCCATCCTGGAGCACGAGGAGCAGGATGAG | AGCAGA c.3780
H E R R A F L Q A I L E H E E Q D E | S R p.1260
. . . . . . g.77911
CACTGCAGCACGGGCAGCGGCAGTGCCAGCTTCGCCCACACTGCCCCTCCGCCAGCGGGC c.3840
H C S T G S G S A S F A H T A P P P A G p.1280
. . . | 28 . . . g.78228
GTCAACCCCGACTTGGAGGAGCCACCTCTAAAG | GAGGAAGACGAGGTGCCCGACGACGAG c.3900
V N P D L E E P P L K | E E D E V P D D E p.1300
. . . . . | 29 . g.79001
ACCGTCAACCAGATGATCGCCCGGCACGAGGAGGAGTTTGATCTGTTCATG | CGCATGGAC c.3960
T V N Q M I A R H E E E F D L F M | R M D p.1320
. . . . . . g.79061
CTGGACCGCAGGCGCGAGGAGGCCCGCAACCCCAAGCGGAAGCCGCGCCTCATGGAGGAG c.4020
L D R R R E E A R N P K R K P R L M E E p.1340
. . . . . . g.79121
GACGAGCTCCCCTCGTGGATCATCAAGGACGACGCGGAGGTGGAGCGGCTGACCTGTGAG c.4080
D E L P S W I I K D D A E V E R L T C E p.1360
. . . . . . g.79181
GAGGAGGAGGAGAAGATGTTCGGCCGTGGCTCCCGCCACCGCAAGGAGGTGGACTACAGC c.4140
E E E E K M F G R G S R H R K E V D Y S p.1380
. . . | 30 . . . g.85415
GACTCACTGACGGAGAAGCAGTGGCTCAAG | GCCATCGAGGAGGGCACGCTGGAGGAGATC c.4200
D S L T E K Q W L K | A I E E G T L E E I p.1400
. . . . . . g.85475
GAAGAGGAGGTCCGGCAGAAGAAATCATCACGGAAGCGCAAGCGAGACAGCGACGCCGGC c.4260
E E E V R Q K K S S R K R K R D S D A G p.1420
. . . . . . g.85535
TCCTCCACCCCGACCACCAGCACCCGCAGCCGCGACAAGGACGACGAGAGCAAGAAGCAG c.4320
S S T P T T S T R S R D K D D E S K K Q p.1440
. . . . . . g.85595
AAGAAGCGCGGGCGGCCGCCTGCCGAGAAACTCTCCCCTAACCCACCCAACCTCACCAAG c.4380
K K R G R P P A E K L S P N P P N L T K p.1460
. . . . | 31 . . g.102349
AAGATGAAGAAGATTGTGGATGCCGTGATCAAGTACAAGGACAG | CAGCAGTGGACGTCAG c.4440
K M K K I V D A V I K Y K D S | S S G R Q p.1480
. . . . . . g.102409
CTCAGCGAGGTCTTCATCCAGCTGCCCTCGCGAAAGGAGCTGCCCGAGTACTACGAGCTC c.4500
L S E V F I Q L P S R K E L P E Y Y E L p.1500
. . . | 32 . . . g.102893
ATCCGCAAGCCCGTGGACTTCAAGAAGATAAAG | GAGCGCATTCGCAACCACAAGTACCGC c.4560
I R K P V D F K K I K | E R I R N H K Y R p.1520
. . . . . . g.102953
AGCCTCAACGACCTAGAGAAGGACGTCATGCTCCTGTGCCAGAACGCACAGACCTTCAAC c.4620
S L N D L E K D V M L L C Q N A Q T F N p.1540
. | 33 . . . . . g.103876
CTGGAGGGCTCCCTG | ATCTATGAAGACTCCATCGTCTTGCAGTCGGTCTTCACCAGCGTG c.4680
L E G S L | I Y E D S I V L Q S V F T S V p.1560
. . . . . . g.103936
CGGCAGAAAATCGAGAAGGAGGATGACAGTGAAGGCGAGGAGAGTGAGGAGGAGGAAGAG c.4740
R Q K I E K E D D S E G E E S E E E E E p.1580
. . | 34 . . . g.104155
GGCGAGGAGGAAGGCTCCGAATCCGAAT | CTCGGTCCGTCAAAGTGAAGATCAAGCTTGGC c.4800
G E E E G S E S E S | R S V K V K I K L G p.1600
. . . . . . g.104215
CGGAAGGAGAAGGCACAGGACCGGCTGAAGGGCGGCCGGCGGCGGCCGAGCCGAGGGTCC c.4860
R K E K A Q D R L K G G R R R P S R G S p.1620
. . . . . | 35 . g.105871
CGAGCCAAGCCGGTCGTGAGTGACGATGACAGTGAGGAGGAACAAGAGGAG | GACCGCTCA c.4920
R A K P V V S D D D S E E E Q E E | D R S p.1640
. . g.105895
GGAAGTGGCAGCGAAGAAGACTGA c.4944
G S G S E E D X p.1647
. . . . . . g.105955
gccccgacattccagtctcgaccccgagcccctcgttccagagctgagatggcataggcc c.*60
. . . . . . g.106015
ttagcagtaacgggtagcagcagatgtagtttcagacttggagtaaaactgtataaacaa c.*120
. . . . . . g.106075
aagaatcttccatatttatacagcagagaagctgtaggactgtttgtgactggccctgtc c.*180
. . . . . . g.106135
ctggcatcagtagcatctgtaacagcattaactgtcttaaagagagagagagagaattcc c.*240
. . . . . . g.106195
gaattggggaacacacgatacctgtttttcttttccgttgctggcagtactgttgcgccg c.*300
. . . . . . g.106255
cagtttggagtcactgtagttaagtgtggatgcatgtgcgtcaccgtccactcctcctac c.*360
. . . . . . g.106315
tgtattttattggacaggtcagactcgccgggggcccggcgagggtatgtcagtgtcact c.*420
. . . . g.106361
ggatgtcaaacagtaataaattaaaccaacaacaaaacgcacagcc c.*466
(downstream sequence)
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