(used for variant description)
(last modified March 10, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_032861.3 in the SERAC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032889.1, covering SERAC1 transcript NM_032861.3.
(upstream sequence)
. . g.5022
agagcgggccgagggggcgggg c.-121
. . . . . . g.5082
tcacgagccgccagccgccgggtggagggtcccggccgggagccgcggaaagagtagggc c.-61
. . . . . . | 02 g.14917
tccccagacaacggggtccgacgagcagttgggcacgggctgagtccgcctgccggcag | a c.-1
. . . . . . g.14977
ATGTCCCTGGCTGCTTATTGCGTCATCTGTTGCAGAAGAATAGGAACCTCTACTTCCCCA c.60
M S L A A Y C V I C C R R I G T S T S P p.20
. . . | 03 . . . g.17958
CCAAAAAGTGGCACACACTGGAGAGATATCA | GAAATATAATAAAGTTTACTGGATCACTT c.120
P K S G T H W R D I R | N I I K F T G S L p.40
| 04 . . . . . g.22743
ATTTTAGG | AGGTTCTTTATTTCTTACATATGAAGTTCTGGCCCTGAAGAAGGCTGTGACA c.180
I L G | G S L F L T Y E V L A L K K A V T p.60
. . . . . . g.22803
TTAGATACTCAAGTGGTAGAACGAGAAAAAATGAAGTCATATATATATGTGCACACAGTT c.240
L D T Q V V E R E K M K S Y I Y V H T V p.80
. . | 05 . . . . g.24361
TCTTTAGACAAAGGAGAAAATCATG | GTATTGCCTGGCAGGCAAGAAAAGAACTTCACAAA c.300
S L D K G E N H G | I A W Q A R K E L H K p.100
. . . . . | 06 . g.26372
GCAGTAAGAAAAGTATTGGCAACATCAGCCAAGATACTGCGGAATCCATTTGCTG | ATCCT c.360
A V R K V L A T S A K I L R N P F A D | P p.120
. . . . . . g.26432
TTTAGTACAGTTGATATAGAAGATCATGAGTGTGCTGTGTGGCTGCTCCTACGGAAGAGC c.420
F S T V D I E D H E C A V W L L L R K S p.140
. . . . . . g.26492
AAGTCAGATGACAAAACCACGCGACTCGAGGCTGTGCGGGAAATGTCGGAGACCCATCAC c.480
K S D D K T T R L E A V R E M S E T H H p.160
| 07. . . . . . g.28913
TGGCATG | ATTACCAGTATAGGATAATTGCTCAAGCCTGTGATCCGAAAACTCTTATTGGT c.540
W H D | Y Q Y R I I A Q A C D P K T L I G p.180
. . . . . . g.28973
TTGGCACGAAGCGAAGAGAGTGATCTTCGCTTTTTTCTCCTACCACCTCCTTTGCCATCT c.600
L A R S E E S D L R F F L L P P P L P S p.200
| 08 . . . . . g.30147
TTAAAAGAA | GATTCTTCCACTGAAGAAGAGCTCAGACAGTTGCTGGCTTCCTTACCTCAA c.660
L K E | D S S T E E E L R Q L L A S L P Q p.220
. . . . . . g.30207
ACAGAGCTAGATGAGTGTATCCAGTATTTTACATCTTTGGCTCTTAGTGAAAGCAGTCAG c.720
T E L D E C I Q Y F T S L A L S E S S Q p.240
. | 09 . . . . g.42836
AGTCTAGCTGCTCAGAAG | GGTGGTTTATGGTGTTTTGGAGGAAATGGACTTCCTTATGCT c.780
S L A A Q K | G G L W C F G G N G L P Y A p.260
. . . . . . g.42896
GAAAGTTTTGGAGAAGTTCCTTCAGCAACAGTGGAAATGTTCTGTTTAGAAGCTATAGTA c.840
E S F G E V P S A T V E M F C L E A I V p.280
. | 10 . . . . . g.45058
AAACATTCTGAG | ATATCCACACATTGTGATAAAATCGAAGCAAATGGAGGCCTGCAGCTA c.900
K H S E | I S T H C D K I E A N G G L Q L p.300
. . . . . . g.45118
CTTCAGAGGCTGTACCGACTTCACAAGGACTGCCCTAAAGTACAGAGAAATATAATGCGT c.960
L Q R L Y R L H K D C P K V Q R N I M R p.320
. . . . . | 11 . g.52710
GTCATTGGAAATATGGCTTTGAATGAACATCTTCATTCTTCTATAGTTCGCTCAG | GCTGG c.1020
V I G N M A L N E H L H S S I V R S G | W p.340
. . . . . . g.52770
GTTTCCATCATGGCAGAAGCAATGAAATCTCCCCACATTATGGAGTCCTCACACGCTGCC c.1080
V S I M A E A M K S P H I M E S S H A A p.360
. . . . . . g.52830
AGAATCCTGGCAAATCTAGACCGAGAAACTGTGCAAGAAAAATATCAGGATGGCGTATAT c.1140
R I L A N L D R E T V Q E K Y Q D G V Y p.380
. . | 12 . . . . g.54144
GTGCTGCATCCCCAATATCGAACAAG | TCAGCCCATTAAAGCAGATGTCCTTTTTATTCAT c.1200
V L H P Q Y R T S | Q P I K A D V L F I H p.400
. . . . . . g.54204
GGCCTTATGGGAGCAGCATTCAAAACATGGCGCCAGCAGGACAGTGAGCAGGCTGTAATT c.1260
G L M G A A F K T W R Q Q D S E Q A V I p.420
. . . . | 13 . g.55471
GAAAAACCTATGGAGGATGAAGACAGATATACGACGTGCTGGCCCAAG | ACATGGTTAGCA c.1320
E K P M E D E D R Y T T C W P K | T W L A p.440
. . . . . . g.55531
AAAGACTGTCCTGCTCTCCGAATTATATCTGTGGAGTATGACACCAGCCTCAGCGACTGG c.1380
K D C P A L R I I S V E Y D T S L S D W p.460
. . | 14 . . . . g.57035
AGAGCAAGGTGCCCTATGGAAAG | AAAGTCCATTGCATTCAGAAGCAACGAACTTCTTAGG c.1440
R A R C P M E R | K S I A F R S N E L L R p.480
. . . . . . g.57095
AAGCTCAGAGCTGCTGGTGTTGGGGATAGGCCAGTGGTTTGGATATCACATAGCATGGGA c.1500
K L R A A G V G D R P V V W I S H S M G p.500
| 15 . . . . . . g.58368
G | GTCTTCTTGTCAAAAAGATGCTGTTGGAAGCCTCTACGAAGCCAGAAATGAGTACTGTT c.1560
G | L L V K K M L L E A S T K P E M S T V p.520
. . . . . . g.58428
ATCAACAATACCAGAGGAATAATTTTTTATAGTGTCCCTCATCATGGATCACGTTTGGCT c.1620
I N N T R G I I F Y S V P H H G S R L A p.540
. . . . . . g.58488
GAATACTCTGTTAATATTCGCTATCTTCTCTTCCCCTCGTTGGAAGTCAAAGAACTCAGC c.1680
E Y S V N I R Y L L F P S L E V K E L S p.560
| 16 . . . . . . g.59744
AAGG | ATTCTCCTGCACTTAAAACACTACAAGATGACTTTCTGGAGTTTGCTAAAGACAAA c.1740
K D | S P A L K T L Q D D F L E F A K D K p.580
. . . . . . g.59804
AACTTCCAGGTGCTGAATTTTGTGGAAACACTACCAACCTACATTGGCAGCATGATTAAG c.1800
N F Q V L N F V E T L P T Y I G S M I K p.600
. . | 17 . . . g.61810
CTCCATGTGGTACCTGTGGAATCAGCAG | ATTTAGGCATTGGAGATCTAATTCCTGTGGAT c.1860
L H V V P V E S A D | L G I G D L I P V D p.620
. . . . . . g.61870
GTTAACCATTTGAACATTTGTAAGCCAAAGAAAAAGGATGCTTTTTTGTACCAGCGTACT c.1920
V N H L N I C K P K K K D A F L Y Q R T p.640
. . . . g.61915
TTACAATTCATTCGTGAAGCTTTAGCCAAAGACCTTGAAAACTAA c.1965
L Q F I R E A L A K D L E N X p.654
. . . . . . g.61975
cagttgtgctcttccagttttcatatgtgaattcagtgcaagaaacttggtgttctgttt c.*60
. . . . . . g.62035
cttcttttaagctctatgcaatcatgcaaacatagtgatcatagcgtcaacatggtctgg c.*120
. . . . . . g.62095
agtgtgttgcagactacagaacattgttctcccttcaagcgctgtaaagcaccaacccgg c.*180
. . . . . . g.62155
aagtggcaggcacagaaggaagggctggattgggcccctttggtgtaaagaagtccctgt c.*240
. . . . . . g.62215
gtgctgctttatggttcgcagtgttgggcttggtgactggagcaaagctgctgtgagaga c.*300
. . . . . . g.62275
gtgtcctttcccatctgtgactttcctggtgcatccaggaggggcacggcaggttctgag c.*360
. . . . . . g.62335
gtaactcaacttaccataaaaatgccattaagagagtacctaaaatggagagaagaatga c.*420
. . . . . . g.62395
actagaacattcaagactcttttacttctgggtattgatttgctgtacatttttaaagtt c.*480
. . . . . . g.62455
tgagtttttagctcagttctaccttttatctgacacattattactagtgttaactttgtt c.*540
. . . . . . g.62515
agacttattgtcatgtctgggtcagttccttgtatctattttcgtattcctgagaacaaa c.*600
. . . . . . g.62575
tctttttcttagaaaaattctagcttataataattcttttcagactgtagctgcctatgc c.*660
. . . . . . g.62635
ttggaatttgtcctagataaggataaagtagctaatccattattgatcacagtatgaagt c.*720
. . . . . . g.62695
aaaactattctaagccattatatgaattagcaattcttagtatcaagattctcagattct c.*780
. . . . . . g.62755
ctttggctaaataaacctttcttcttccttgctcatttgcaagtggtattaattgacctc c.*840
. . . . . . g.62815
tatagcatgtgagtagtagataatcatgtcgatgacctttttttctttagagtaacagca c.*900
. . . . . . g.62875
ttattgagatataatttacataccataagattcacccttttaaattatacaattcatttt c.*960
. . . . . . g.62935
tgttttgttttgtttgtttagagacagggtctgactctgttgcccaagctggagtgcagt c.*1020
. . . . . . g.62995
ggcatgatcatagctcattgtaacctcaaactcctgggctcaagagatccttttgcttca c.*1080
. . . . . . g.63055
gcctcccaagcagctaggactacaggcacatgccaccacacttgggtaattaaaaaataa c.*1140
. . . . . . g.63115
ataaatacttttttgtagagacagggtctcactgtgttgcccaggtctcaaactcccgat c.*1200
. . . . . . g.63175
ctcaagccaccctcccaaaatgctgtgattataggccagagccattgttcccaggctcaa c.*1260
. . . . . . g.63235
ttcattggtttttagtatagttcactgagttgtgcaacatcattgctatttaatttcagg c.*1320
. . . . . . g.63295
ctatttcatcatccccaaaagaaccccatacccatgagcagtcagttcccacctctgctt c.*1380
. . . . . . g.63355
tcccaagcctgcggtaaacactaatctgttttctgtctctatggatttgggaattttatg c.*1440
. . . . . . g.63415
taaatggaatcatacaatatgtggccctctctgccttcttccttctattagcatgttttc c.*1500
. . . . . . g.63475
aaggttcattcatgatatagcatgtatcagtactacttcatttctttttatggccgaaat c.*1560
. . . . . . g.63535
tactccattgtatgatatgccatgtttctttatccattcatcagctgatggacatctagg c.*1620
. . . . . . g.63595
ttctgttcatttttgtctatgataaataatgctaccatgatcatttgtgtacaaatttat c.*1680
. . . . . . g.63655
gtgtggatagatgtttttgattctcttgggtggaattgctggtcaaatggtaagtctatg c.*1740
. . . . . . g.63715
tttaaattttgaagatggtgaacttttgtagaatgagatagtcgaagctaaaactggagt c.*1800
. . . . . . g.63775
atggcatctgaaggtaaatggctcatcaataaactcgatatcaacaattaattgtttcat c.*1860
g.63777
tg c.*1862
(downstream sequence)
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