(used for variant description)
(last modified March 22, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_003076.4 in the SMARCD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering SMARCD1 transcript NM_003076.4.
(upstream sequence)
. . . . . g.5050
agcacgccttttccgctagtcgccccgctctatcccatagtctcgctgcc c.-121
. . . . . . g.5110
ctgagcctcccgtgccggccggccggccgggggaacaggcgggcgctcggggggcgctcg c.-61
. . . . . . g.5170
gggggcggggggagttccggttccggttctttgtgcggctgcatcggcggctccgggaag c.-1
. . . . . . g.5230
ATGGCGGCCCGGGCGGGTTTCCAGTCTGTGGCTCCAAGCGGCGGCGCCGGAGCCTCAGGA c.60
M A A R A G F Q S V A P S G G A G A S G p.20
. . . . . . g.5290
GGGGCGGGCGCGGCTGCTGCCTTGGGCCCGGGCGGAACTCCGGGGCCTCCTGTGCGAATG c.120
G A G A A A A L G P G G T P G P P V R M p.40
. . . . . | 02. g.5964
GGCCCGGCTCCGGGTCAAGGGCTGTACCGCTCCCCGATGCCCGGAGCGGCCTATCCG | AGA c.180
G P A P G Q G L Y R S P M P G A A Y P | R p.60
. . . . . . g.6024
CCAGGTATGTTGCCAGGCAGCCGAATGACACCTCAGGGACCTTCCATGGGACCCCCTGGC c.240
P G M L P G S R M T P Q G P S M G P P G p.80
. . . . . . g.6084
TATGGGGGGAACCCTTCAGTCCGACCTGGCCTGGCCCAGTCAGGGATGGATCAGTCCCGC c.300
Y G G N P S V R P G L A Q S G M D Q S R p.100
. . . . . . g.6144
AAGAGACCTGCCCCTCAGCAGATCCAGCAGGTCCAGCAGCAGGCGGTCCAAAATCGAAAC c.360
K R P A P Q Q I Q Q V Q Q Q A V Q N R N p.120
| 03 . . . . | 04 . g.6568
CACAA | TGCAAAGAAAAAGAAGATGGCTGACAAAATTCTACCTCAAAGG | ATTCGTGAACTG c.420
H N | A K K K K M A D K I L P Q R | I R E L p.140
. . . . . . g.6628
GTACCAGAATCCCAGGCCTATATGGATCTCTTGGCTTTTGAAAGGAAACTGGACCAGACT c.480
V P E S Q A Y M D L L A F E R K L D Q T p.160
. . . . . | 05 . g.7172
ATCATGAGGAAACGGCTAGATATCCAAGAGGCCTTGAAACGTCCCATCAAG | CAAAAACGG c.540
I M R K R L D I Q E A L K R P I K | Q K R p.180
. . . . . . g.7232
AAGCTGCGAATTTTCATTTCTAACACTTTCAATCCGGCTAAGTCAGATGCCGAGGATGGG c.600
K L R I F I S N T F N P A K S D A E D G p.200
. . . . . | 06 . g.8327
GAAGGGACGGTGGCTTCCTGGGAGCTTCGGGTAGAAGGACGGCTCCTGGAGGAT | TCAGCC c.660
E G T V A S W E L R V E G R L L E D | S A p.220
. . . . . . g.8387
TTGTCCAAATATGATGCCACTAAACAAAAGAGGAAGTTCTCTTCCTTTTTTAAGTCCTTG c.720
L S K Y D A T K Q K R K F S S F F K S L p.240
. . . . . | 07 . g.9693
GTGATTGAACTGGACAAAGACCTGTATGGGCCAGACAACCATCTGGTAGAA | TGGCACAGG c.780
V I E L D K D L Y G P D N H L V E | W H R p.260
. . . . . . g.9753
ACCGCCACTACCCAGGAGACCGATGGCTTTCAGGTGAAGCGGCCGGGAGACGTGAATGTA c.840
T A T T Q E T D G F Q V K R P G D V N V p.280
. . . | 08 . . . g.10068
CGGTGTACTGTCCTACTGATGCTGGATTACCAG | CCTCCCCAGTTTAAATTAGACCCCCGC c.900
R C T V L L M L D Y Q | P P Q F K L D P R p.300
. . . . . . g.10128
CTAGCTCGACTCCTGGGCATCCATACCCAGACTCGTCCAGTGATCATCCAAGCACTGTGG c.960
L A R L L G I H T Q T R P V I I Q A L W p.320
. . . . . . g.10188
CAATATATTAAGACACATAAGCTCCAGGACCCTCACGAGCGGGAGTTTGTCATCTGTGAC c.1020
Q Y I K T H K L Q D P H E R E F V I C D p.340
. | 09 . . . . . g.10338
AAGTACCTGCAGCAG | ATCTTTGAGTCTCAACGTATGAAGTTTTCAGAGATCCCTCAGCGG c.1080
K Y L Q Q | I F E S Q R M K F S E I P Q R p.360
. . . . . | 10 . g.14244
CTCCATGCCTTGCTTATGCCACCAGAACCTATCATCATTAATCATGTCATCAG | TGTTGAC c.1140
L H A L L M P P E P I I I N H V I S | V D p.380
. . . . . . g.14304
CCGAATGATCAGAAAAAGACAGCTTGTTATGACATTGATGTTGAAGTGGATGACACCTTG c.1200
P N D Q K K T A C Y D I D V E V D D T L p.400
. . . . . . g.14364
AAGACCCAGATGAATTCTTTTCTGCTGTCCACTGCCAGCCAACAGGAGATTGCTACTCTA c.1260
K T Q M N S F L L S T A S Q Q E I A T L p.420
| 11 . . . . . g.16701
GACAACAAG | ATCCATGAGACAATAGAAACCATCAACCAGCTGAAGACTCAGCGGGAGTTC c.1320
D N K | I H E T I E T I N Q L K T Q R E F p.440
. . . . . . g.16761
ATGCTGAGCTTTGCCAGAGACCCTCAGGGTTTCATCAATGACTGGCTTCAGTCCCAGTGC c.1380
M L S F A R D P Q G F I N D W L Q S Q C p.460
. | 12 . . . . . g.18562
AGGGACCTCAAG | ACAATGACTGATGTGGTGGGTAACCCAGAGGAGGAGCGCCGAGCTGAG c.1440
R D L K | T M T D V V G N P E E E R R A E p.480
. . . . . | 13 . g.18753
TTCTACTTCCAGCCCTGGGCTCAGGAGGCTGTGTGCCGATACTTCTACTCCAAG | GTGCAG c.1500
F Y F Q P W A Q E A V C R Y F Y S K | V Q p.500
. . . . g.18801
CAGAGACGACAAGAATTAGAGCAAGCCCTGGGAATCCGGAATACATAG c.1548
Q R R Q E L E Q A L G I R N T X p.515
. . . . . . g.18861
ggcctctcccacagccctgattcgactgcaccaattcttgatttgggccctgtgctgcct c.*60
. . . . . . g.18921
gcctcatagtatctgccttggtcttgcttggggcgttccaggggatgctgttggttcaag c.*120
. . . . . . g.18981
gacaacaccagaatgaagagggtctcacaagacacctgttatcctcttctttcaccctat c.*180
. . . . . . g.19041
ctcttcccacccccagcttccctttgccccacaaagttcccatgtgcctgtaccctcccc c.*240
. . . . . . g.19101
tggtctacataggacctctagatagtgttagagagagaacatgtagtggtaatgagtgct c.*300
. . . . . . g.19161
tggaatggattgggcctcaggccaggtggtcttcaaggggaccagctaactgatcctgcc c.*360
. . . . . . g.19221
cttcagagacccaggagttgggagctttcgctccttctccaagactcaggcctgtgggca c.*420
. . . . . . g.19281
ctctataagctagttgatcttggctctcctgataacagaatccaatttccttccttccct c.*480
. . . . . . g.19341
ccacaggtttggaacaaactctcccttcacttgttgccctgtagcactacagaaaccctg c.*540
. . . . . . g.19401
gttcttgggctccactgagccccaggtcagtccccagccctctgggttggcctgctgtca c.*600
. . . . . . g.19461
gtgcttctctcactccttagttggggtccacatcagtattggagttttgttctttattgc c.*660
. . . . . . g.19521
tccctcccagacactccctgtggctgccctttgtgattccctcagatctgccctaatccc c.*720
. . . . . . g.19581
gggcatttgggtgggggaatcttgcctttccctttcagagccccagggatctcatctggg c.*780
. . . . . . g.19641
gaactgtcattgccagcagaggctgttccttcctgctgtttggagatgtgactcattcat c.*840
. . . . . . g.19701
tcactcactccaccctgcctctgcatcccttaatggagaaacgggcctaaaaccaaacgg c.*900
. . . . . . g.19761
gtaaaaagccctgggccatccctgtcttcctgtcccttgtctgcccagttgacacctact c.*960
. . . . . . g.19821
ggtgacttctagggcactgaggagtgaaagcgcctagggctggagaatagcgctgagttg c.*1020
. . . . . . g.19881
ggtttgtgactcttccctctccctgcctcacaggattgtgactccccagcccctgccctc c.*1080
. . . . . . g.19941
aaagcttcagacccctcaggtagcagcaggaccttgtgatcttggccccttggatctgag c.*1140
. . . . . . g.20001
atggtttttgcatctttccaggagagcctcacattcttcttccaggttgtatcacccccg c.*1200
. . . . . . g.20061
agttagcatatcccaggctcgcagactcaacacagcaagggtgggagacagctgggcaca c.*1260
. . . . . . g.20121
aagggggaattccgttcagcatgggctctaaacccacagaactgacaaagcccctgcttc c.*1320
. . . . . . g.20181
cccaccccctcctcaggctcctgcgagcacacccccacccccaaatccctccctgttcta c.*1380
. . . . . . g.20241
cactggggacagcagaattttctccccgtcttccccttcctgccattttccctcccttga c.*1440
. . . . . . g.20301
aaggttgacactggacaaccttggggcagctgagccctggccgcctcctggctggaacca c.*1500
. . . . . . g.20361
tgagaaggaagctcagtacttcccacagtgtccctgttgataactgtttttattaactga c.*1560
. . . . . . g.20421
attgtttttttcatggaccaaacttttttttgtactgtccccttattgatgttacccagt c.*1620
. . . . . . g.20481
tttaataaaagaatcttctgaaggatgggtcctcctacctactgtgagagagctcttccc c.*1680
. . . g.20512
tgagctcttcttccttcaataccattagcca c.*1711
(downstream sequence)
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