(used for variant description)
(last modified June 8, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_004176.4 in the SREBF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_029029.1, covering SREBF1 transcript NM_004176.4.
(upstream sequence)
. g.5014
agcagagctgcggc c.-181
. . . . . . g.5074
cgggggaacccagtttccgaggaacttttcgccggcgccgggccgcctctgaggccaggg c.-121
. . . . . . g.5134
caggacacgaacgcgcggagcggcggcggcgactgagagccggggccgcggcggcgctcc c.-61
. . . . . . g.5194
ctaggaagggccgtacgaggcggcgggcccggcgggcctcccggaggaggcggctgcgcc c.-1
. . . . . . g.5254
ATGGACGAGCCACCCTTCAGCGAGGCGGCTTTGGAGCAGGCGCTGGGCGAGCCGTGCGAT c.60
M D E P P F S E A A L E Q A L G E P C D p.20
. . . | 02 . . . g.21519
CTGGACGCGGCGCTGCTGACCGACATCGAAG | ACATGCTTCAGCTTATCAACAACCAAGAC c.120
L D A A L L T D I E D | M L Q L I N N Q D p.40
. . . . . . g.21579
AGTGACTTCCCTGGCCTATTTGACCCACCCTATGCTGGGAGTGGGGCAGGGGGCACAGAC c.180
S D F P G L F D P P Y A G S G A G G T D p.60
. . . . . . g.21639
CCTGCCAGCCCCGATACCAGCTCCCCAGGCAGCTTGTCTCCACCTCCTGCCACATTGAGC c.240
P A S P D T S S P G S L S P P P A T L S p.80
. . . . . . g.21699
TCCTCTCTTGAAGCCTTCCTGAGCGGGCCGCAGGCAGCGCCCTCACCCCTGTCCCCTCCC c.300
S S L E A F L S G P Q A A P S P L S P P p.100
. . . . . . g.21759
CAGCCTGCACCCACTCCATTGAAGATGTACCCGTCCATGCCCGCTTTCTCCCCTGGGCCT c.360
Q P A P T P L K M Y P S M P A F S P G P p.120
. . . . . . g.21819
GGTATCAAGGAAGAGTCAGTGCCACTGAGCATCCTGCAGACCCCCACCCCACAGCCCCTG c.420
G I K E E S V P L S I L Q T P T P Q P L p.140
. . . . . . g.21879
CCAGGGGCCCTCCTGCCACAGAGCTTCCCAGCCCCAGCCCCACCGCAGTTCAGCTCCACC c.480
P G A L L P Q S F P A P A P P Q F S S T p.160
. . . . | 03 . . g.22303
CCTGTGTTAGGCTACCCCAGCCCTCCGGGAGGCTTCTCTACAG | GAAGCCCTCCCGGGAAC c.540
P V L G Y P S P P G G F S T G | S P P G N p.180
. . . . . . g.22363
ACCCAGCAGCCGCTGCCTGGCCTGCCACTGGCTTCCCCGCCAGGGGTCCCGCCCGTCTCC c.600
T Q Q P L P G L P L A S P P G V P P V S p.200
. . . . . . g.22423
TTGCACACCCAGGTCCAGAGTGTGGTCCCCCAGCAGCTACTGACAGTCACAGCTGCCCCC c.660
L H T Q V Q S V V P Q Q L L T V T A A P p.220
. . . . . | 04 . g.22566
ACGGCAGCCCCTGTAACGACCACTGTGACCTCGCAGATCCAGCAGGTCCCG | GTCCTGCTG c.720
T A A P V T T T V T S Q I Q Q V P | V L L p.240
. . . . . . g.22626
CAGCCCCACTTCATCAAGGCAGACTCGCTGCTTCTGACAGCCATGAAGACAGACGGAGCC c.780
Q P H F I K A D S L L L T A M K T D G A p.260
. . . . . . g.22686
ACTGTGAAGGCGGCAGGTCTCAGTCCCCTGGTCTCTGGCACCACTGTGCAGACAGGGCCT c.840
T V K A A G L S P L V S G T T V Q T G P p.280
| 05 . . . . . . g.22831
TTGCCG | ACCCTGGTGAGTGGCGGAACCATCTTGGCAACAGTCCCACTGGTCGTAGATGCG c.900
L P | T L V S G G T I L A T V P L V V D A p.300
. . . . . . g.22891
GAGAAGCTGCCTATCAACCGGCTCGCAGCTGGCAGCAAGGCCCCGGCCTCTGCCCAGAGC c.960
E K L P I N R L A A G S K A P A S A Q S p.320
. . . . . . g.22951
CGTGGAGAGAAGCGCACAGCCCACAACGCCATTGAGAAGCGCTACCGCTCCTCCATCAAT c.1020
R G E K R T A H N A I E K R Y R S S I N p.340
. . . . | 06 . g.23649
GACAAAATCATTGAGCTCAAGGATCTGGTGGTGGGCACTGAGGCAAAG | CTGAATAAATCT c.1080
D K I I E L K D L V V G T E A K | L N K S p.360
. . . . . . g.23709
GCTGTCTTGCGCAAGGCCATCGACTACATTCGCTTTCTGCAACACAGCAACCAGAAACTC c.1140
A V L R K A I D Y I R F L Q H S N Q K L p.380
. . . . | 07 . . g.24112
AAGCAGGAGAACCTAAGTCTGCGCACTGCTGTCCACAAAAGCA | AATCTCTGAAGGATCTG c.1200
K Q E N L S L R T A V H K S K | S L K D L p.400
. . . . . . g.24172
GTGTCGGCCTGTGGCAGTGGAGGGAACACAGACGTGCTCATGGAGGGCGTGAAGACTGAG c.1260
V S A C G S G G N T D V L M E G V K T E p.420
. . . . . . g.24232
GTGGAGGACACACTGACCCCACCCCCCTCGGATGCTGGCTCACCTTTCCAGAGCAGCCCC c.1320
V E D T L T P P P S D A G S P F Q S S P p.440
. . . . . . g.24292
TTGTCCCTTGGCAGCAGGGGCAGTGGCAGCGGTGGCAGTGGCAGTGACTCGGAGCCTGAC c.1380
L S L G S R G S G S G G S G S D S E P D p.460
. . | 08 . . . . g.24590
AGCCCAGTCTTTGAGGACAGCAAG | GCAAAGCCAGAGCAGCGGCCGTCTCTGCACAGCCGG c.1440
S P V F E D S K | A K P E Q R P S L H S R p.480
. . . . . . g.24650
GGCATGCTGGACCGCTCCCGCCTGGCCCTGTGCACGCTCGTCTTCCTCTGCCTGTCCTGC c.1500
G M L D R S R L A L C T L V F L C L S C p.500
. . . . . . g.24710
AACCCCTTGGCCTCCTTGCTGGGGGCCCGGGGGCTTCCCAGCCCCTCAGATACCACCAGC c.1560
N P L A S L L G A R G L P S P S D T T S p.520
. . . . | 09 . . g.24889
GTCTACCATAGCCCTGGGCGCAACGTGCTGGGCACCGAGAGCAGAG | ATGGCCCTGGCTGG c.1620
V Y H S P G R N V L G T E S R D | G P G W p.540
. . . . . . g.24949
GCCCAGTGGCTGCTGCCCCCAGTGGTCTGGCTGCTCAATGGGCTGTTGGTGCTCGTCTCC c.1680
A Q W L L P P V V W L L N G L L V L V S p.560
. . . . . . g.25009
TTGGTGCTTCTCTTTGTCTACGGTGAGCCAGTCACACGGCCCCACTCAGGCCCCGCCGTG c.1740
L V L L F V Y G E P V T R P H S G P A V p.580
. . . . | 10 . . g.25308
TACTTCTGGAGGCATCGCAAGCAGGCTGACCTGGACCTGGCCCGG | GGAGACTTTGCCCAG c.1800
Y F W R H R K Q A D L D L A R | G D F A Q p.600
. . . . . . g.25368
GCTGCCCAGCAGCTGTGGCTGGCCCTGCGGGCACTGGGCCGGCCCCTGCCCACCTCCCAC c.1860
A A Q Q L W L A L R A L G R P L P T S H p.620
. . . . . . g.25428
CTGGACCTGGCTTGTAGCCTCCTCTGGAACCTCATCCGTCACCTGCTGCAGCGTCTCTGG c.1920
L D L A C S L L W N L I R H L L Q R L W p.640
. . . . . . g.25488
GTGGGCCGCTGGCTGGCAGGCCGGGCAGGGGGCCTGCAGCAGGACTGTGCTCTGCGAGTG c.1980
V G R W L A G R A G G L Q Q D C A L R V p.660
. . . . . . g.25548
GATGCTAGCGCCAGCGCCCGAGACGCAGCCCTGGTCTACCATAAGCTGCACCAGCTGCAC c.2040
D A S A S A R D A A L V Y H K L H Q L H p.680
| 11. . . . . . g.25691
ACCATGG | GGAAGCACACAGGCGGGCACCTCACTGCCACCAACCTGGCGCTGAGTGCCCTG c.2100
T M G | K H T G G H L T A T N L A L S A L p.700
. . . . . . g.25751
AACCTGGCAGAGTGTGCAGGGGATGCCGTGTCTGTGGCGACGCTGGCCGAGATCTATGTG c.2160
N L A E C A G D A V S V A T L A E I Y V p.720
. . . . . | 12 . g.25989
GCGGCTGCATTGAGAGTGAAGACCAGTCTCCCACGGGCCTTGCATTTTCTGACA | CGCTTC c.2220
A A A L R V K T S L P R A L H F L T | R F p.740
. . . . . . g.26049
TTCCTGAGCAGTGCCCGCCAGGCCTGCCTGGCACAGAGTGGCTCAGTGCCTCCTGCCATG c.2280
F L S S A R Q A C L A Q S G S V P P A M p.760
. . . . . . g.26109
CAGTGGCTCTGCCACCCCGTGGGCCACCGTTTCTTCGTGGATGGGGACTGGTCCGTGCTC c.2340
Q W L C H P V G H R F F V D G D W S V L p.780
. . . . | 13 . . g.26699
AGTACCCCATGGGAGAGCCTGTACAGCTTGGCCGGGAACCCAG | TGGACCCCCTGGCCCAG c.2400
S T P W E S L Y S L A G N P V | D P L A Q p.800
. . . . . . g.26759
GTGACTCAGCTATTCCGGGAACATCTCTTAGAGCGAGCACTGAACTGTGTGACCCAGCCC c.2460
V T Q L F R E H L L E R A L N C V T Q P p.820
. . . | 14 . . . g.27095
AACCCCAGCCCTGGGTCAGCTGATGGGGACAA | GGAATTCTCGGATGCCCTCGGGTACCTG c.2520
N P S P G S A D G D K | E F S D A L G Y L p.840
. . . . . . g.27155
CAGCTGCTGAACAGCTGTTCTGATGCTGCGGGGGCTCCTGCCTACAGCTTCTCCATCAGT c.2580
Q L L N S C S D A A G A P A Y S F S I S p.860
. . | 15 . . . . g.27302
TCCAGCATGGCCACCACCACCG | GCGTAGACCCGGTGGCCAAGTGGTGGGCCTCTCTGACA c.2640
S S M A T T T G | V D P V A K W W A S L T p.880
. . . . . . g.27362
GCTGTGGTGATCCACTGGCTGCGGCGGGATGAGGAGGCGGCTGAGCGGCTGTGCCCGCTG c.2700
A V V I H W L R R D E E A A E R L C P L p.900
. . . | 16 . . . g.27626
GTGGAGCACCTGCCCCGGGTGCTGCAGGAGTCTGA | GAGACCCCTGCCCAGGGCAGCTCTG c.2760
V E H L P R V L Q E S E | R P L P R A A L p.920
. . . . . . g.27686
CACTCCTTCAAGGCTGCCCGGGCCCTGCTGGGCTGTGCCAAGGCAGAGTCTGGTCCAGCC c.2820
H S F K A A R A L L G C A K A E S G P A p.940
. . . . . . g.27746
AGCCTGACCATCTGTGAGAAGGCCAGTGGGTACCTGCAGGACAGCCTGGCTACCACACCA c.2880
S L T I C E K A S G Y L Q D S L A T T P p.960
. . | 17 . . . . g.28281
GCCAGCAGCTCCATTGACAAG | GCCGTGCAGCTGTTCCTGTGTGACCTGCTTCTTGTGGTG c.2940
A S S S I D K | A V Q L F L C D L L L V V p.980
. . . . . . g.28341
CGCACCAGCCTGTGGCGGCAGCAGCAGCCCCCGGCCCCGGCCCCAGCAGCCCAGGGCACC c.3000
R T S L W R Q Q Q P P A P A P A A Q G T p.1000
. . . . . . g.28401
AGCAGCAGGCCCCAGGCTTCCGCCCTTGAGCTGCGTGGCTTCCAACGGGACCTGAGCAGC c.3060
S S R P Q A S A L E L R G F Q R D L S S p.1020
. . . . | 18 . . g.28550
CTGAGGCGGCTGGCACAGAGCTTCCGGCCCGCCATGCGGAGG | GTGTTCCTACATGAGGCC c.3120
L R R L A Q S F R P A M R R | V F L H E A p.1040
. . . . . . g.28610
ACGGCCCGGCTGATGGCGGGGGCCAGCCCCACACGGACACACCAGCTCCTCGACCGCAGT c.3180
T A R L M A G A S P T R T H Q L L D R S p.1060
. . . | 19 . . . g.29186
CTGAGGCGGCGGGCAGGCCCCGGTGGCAAAGGAG | GCGCGGTGGCGGAGCTGGAGCCGCGG c.3240
L R R R A G P G G K G G | A V A E L E P R p.1080
. . . . . . g.29246
CCCACGCGGCGGGAGCACGCGGAGGCCTTGCTGCTGGCCTCCTGCTACCTGCCCCCCGGC c.3300
P T R R E H A E A L L L A S C Y L P P G p.1100
. . . . . . g.29306
TTCCTGTCGGCGCCCGGGCAGCGCGTGGGCATGCTGGCTGAGGCGGCGCGCACACTCGAG c.3360
F L S A P G Q R V G M L A E A A R T L E p.1120
. . . . . . g.29366
AAGCTTGGCGATCGCCGGCTGCTGCACGACTGTCAGCAGATGCTCATGCGCCTGGGCGGT c.3420
K L G D R R L L H D C Q Q M L M R L G G p.1140
. . g.29390
GGGACCACTGTCACTTCCAGCTAG c.3444
G T T V T S S X p.1147
. . . . . . g.29450
accccgtgtccccggcctcagcacccctgtctctagccactttggtcccgtgcagcttct c.*60
. . . . . . g.29510
gtcctgcgtcgaagctttgaaggccgaaggcagtgcaagagactctggcctccacagttc c.*120
. . . . . . g.29570
gacctgcggctgctgtgtgccttcgcggtggaaggcccgaggggcgcgatcttgacccta c.*180
. . . . . . g.29630
agaccggcggccatgatggtgctgacctctggtggccgatcggggcactgcaggggccga c.*240
. . . . . . g.29690
gccattttggggggcccccctccttgctctgcaggcaccttagtggcttttttcctcctg c.*300
. . . . . . g.29750
tgtacagggaagagaggggtacatttccctgtgctgacggaagccaacttggctttcccg c.*360
. . . . . . g.29810
gactgcaagcagggctctgccccagaggcctctctctccgtcgtgggagagagacgtgta c.*420
. . . . . . g.29870
catagtgtaggtcagcgtgcttagcctcctgacctgaggctcctgtgctactttgccttt c.*480
. . . . . . g.29930
tgcaaactttattttcatagattgagaagttttgtacagagaattaaaaatgaaattatt c.*540
. . . . . . g.29990
tataatctgggttttgtgtcttcagctgatggatgtgctgactagtgagagtgcttgggc c.*600
. . . . . . g.30050
cctcccccagcacctagggaaaggcttcccctccccctccggccacaaggtacacaactt c.*660
. . . . . . g.30110
ttaacttagctcttcccgatgtttgtttgttagtgggaggagtggggagggctggctgta c.*720
. . . . . . g.30170
tggcctccagcctacctgttccccctgctcccagggcacatggttgggctgtgtcaaccc c.*780
. . . . . . g.30230
ttagggcctccatggggtcagttgtcccttctcacctcccagctctgtccccatcaggtc c.*840
. . . . . . g.30290
cctgggtggcacgggaggatggactgacttccaggacctgttgtgtgacaggagctacag c.*900
. . . . . . g.30350
cttgggtctccctgcaagaagtctggcacgtctcacctcccccatcccggcccctggtca c.*960
. . . . . . g.30410
tctcacagcaaagaagcctcctccctcccgacctgccgccacactggagagggggcacag c.*1020
. . . . . . g.30470
gggcgggggaggtttcctgttctgtgaaaggccgactccctgactccattcatgcccccc c.*1080
. . . . . . g.30530
cccccagcccctcccttcattcccattccccaacctaaagcctggcccggctcccagctg c.*1140
. . . . . . g.30590
aatctggtcggaatccacgggctgcagattttccaaaacaatcgttgtatctttattgac c.*1200
. . . . . . g.30650
ttttttttttttttttttctgaatgcaatgactgttttttactcttaaggaaaataaaca c.*1260
. g.30663
tcttttagaaaca c.*1273
(downstream sequence)
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