(used for variant description)
(last modified July 9, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001198799.2 in the ASCC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031890.1, covering ASCC1 transcript NM_001198799.2.
(upstream sequence)
. . g.5721
agagaggggagcgctcagaacaccagcg c.-241
. . . . . . g.5781
gctcccaagctaactcctagccacttttcccacccagctgggtccccaggaaactacgcc c.-181
. . . . . . g.5841
atcggcgctgtcccactgcgcaggcgccagccctcggcccgcatgcgcactcggtcaaac c.-121
. . . . . . g.5901
ccggcctggggaaatttcctatcgcacgtctgctgcagcagtctcctgtttctcctccta c.-61
. . . | 02 . . . g.8836
ccttctccatttttctagtccctgcag | ggcataattggaatatcatttggagaaagtgtc c.-1
. . . . . . g.8896
ATGGAAGTTCTGCGTCCACAGCTTATAAGAATTGATGGCCGGAATTACAGGAAGAATCCA c.60
M E V L R P Q L I R I D G R N Y R K N P p.20
. . . . . | 03 . g.11311
GTCCAAGAACAGACCTATCAACATGAAGAAGATGAAGAGGACTTCTATCAAG | GCTCCATG c.120
V Q E Q T Y Q H E E D E E D F Y Q G | S M p.40
. . . . . . g.11371
GAGTGTGCTGATGAGCCCTGTGATGCCTACGAGGTGGAGCAGACCCCACAAGGATTCCGG c.180
E C A D E P C D A Y E V E Q T P Q G F R p.60
. . . | 04 . . . g.17657
TCTACTTTGAGGGCCCCCAGCTTGCTCTATAA | TCTCATTCACTTGAACACATCAAACGAC c.240
S T L R A P S L L Y N | L I H L N T S N D p.80
. . . . . | 05 . g.18614
TGTGGGTTCCAGAAGATAACTTTGGATTGTCAGAATATTTATACTTGGAAGTCCAG | GCAT c.300
C G F Q K I T L D C Q N I Y T W K S R | H p.100
. . . . . . g.18674
ATAGTTGGAAAGAGAGGGGACACTAGGAAGAAAATAGAAATGGAGACCAAAACTTCTATT c.360
I V G K R G D T R K K I E M E T K T S I p.120
. . . | 06 . . . g.25171
AGCATTCCTAAACCTGGACAAGACGGGGAAATTG | TAATCACTGGCCAGCATCGAAATGGT c.420
S I P K P G Q D G E I V | I T G Q H R N G p.140
. . . . . . g.25231
GTAATTTCAGCCCGAACACGGATTGATGTTCTTTTGGACACTTTTCGAAGAAAGCAGCCC c.480
V I S A R T R I D V L L D T F R R K Q P p.160
. . . . . . g.25291
TTCACTCACTTCCTTGCCTTTTTCCTCAATGAAGTTGAGGTTCAGGAAGGATTCCTGAGA c.540
F T H F L A F F L N E V E V Q E G F L R p.180
. . . | 07 . . . g.60487
TTCCAGGAGGAAGTACTGGCGAAGTGCTCCATG | GATCATGGGGTTGACAGCAGCATTTTC c.600
F Q E E V L A K C S M | D H G V D S S I F p.200
. . . . . . g.60547
CAGAATCCTAAAAAGCTTCATCTAACTATTGGGATGTTGGTGCTTTTGAGTGAGGAAGAG c.660
Q N P K K L H L T I G M L V L L S E E E p.220
. . . . . | 08 . g.69156
ATCCAGCAGACATGTGAGATGCTACAGCAGTGTAAAGAGGAATTCATTAA | TGATATTTCT c.720
I Q Q T C E M L Q Q C K E E F I N | D I S p.240
. . . . . . g.69216
GGGGGTAAACCCCTAGAAGTGGAGATGGCAGGGATAGAATACATGAATGATGATCCTGGC c.780
G G K P L E V E M A G I E Y M N D D P G p.260
. . . . . | 09 . g.88963
ATGGTGGATGTTCTTTACGCCAAAGTCCATATGAAAGATGGCTCCAACAG | GCTACAAGAA c.840
M V D V L Y A K V H M K D G S N R | L Q E p.280
. . . . . . g.89023
TTAGTTGATCGAGTGCTGGAACGTTTTCAGGCATCTGGACTAATAGTGAAAGAGTGGAAT c.900
L V D R V L E R F Q A S G L I V K E W N p.300
. . . . . | 10 . g.93972
AGTGTGAAACTGCATGCTACAGTTATGAATACACTATTCAGGAAAGACCCCAATG | CTGAA c.960
S V K L H A T V M N T L F R K D P N A | E p.320
. . . . . . g.94032
GGCAGGTACAATCTCTACACAGCGGAAGGCAAATATATCTTCAAGGAAAGAGAATCATTT c.1020
G R Y N L Y T A E G K Y I F K E R E S F p.340
. . | 11 . . . . g.119206
GATGGCCGAAATATTTTAAAG | AGCTTTGCCTTGTTGCCCAGGCTGGAGTACAATGATGCA c.1080
D G R N I L K | S F A L L P R L E Y N D A p.360
. . . . . . g.119266
ATCTCCGCTCACTGCAACCTGTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCC c.1140
I S A H C N L C L P G S S D S P A S A S p.380
. | 12 . . . . g.119763
CAAGTAGCTGGGATTACAG | GTGTCTCTGATGCATATTCTCAGAGCCTACCAGGAAAATCC c.1200
Q V A G I T G | V S D A Y S Q S L P G K S p.400
g.119766
TAG | c.1204
X p.400
. . . | 13 . . . g.124709
aatcgagaagggcttgggacacagagagctagtgg | ttgtttgagaacttctactttggct c.*60
. . . . . . g.124769
ccctaaagctgaattcaattcacatctctcagaggttcaccgtagacagctttggaaact c.*120
. . . . . . g.124829
acgcttcctgtggacaaattgacttctcctgaggtggatcttggaaagcactagaaacta c.*180
. . . . . . g.124889
aacatcttcaccaggtgctgaagaaaagtgtcttcgttttaattgccaagcagggatgtg c.*240
. . . . . . g.124949
gacatttggatggtgactttcctgggtggttccccatagattcaccattgcctctaatgg c.*300
. . . . . . g.125009
tgtctacacccgtcatactaccagctgagatggtggtgggcataaggagaatttgtgcct c.*360
. . . . . . g.125069
ataacccttagtgtgttctggttttttttcttttaatttttaaattgtcgtaaaatactc c.*420
. . . . . . g.125129
ataaaacatactgtcttcaccatttttaagtgcacagttcagtaacgttaactgttaata c.*480
. . . . . . g.125189
cattcataatgctgtgtggccgtcaccgccgtccatctccataggcttctcagcttgtaa c.*540
. . . . . . g.125249
aatggaaactgtacccattaaacagtaattcccactcctcccagcccccgcagccaccat c.*600
. . . . . . g.125309
tctgctttctgtctctctggttttgactattctcagtatctcatataagtggaatcatac c.*660
. . . . . . g.125369
agtgacttgtctttttgtgactggcttatttcacttagcataatgtcctcaaggttcatc c.*720
. . . . . . g.125429
catgttgtgtcaggtgacaggatttccttcctgtattatacatataatggaatgttccgt c.*780
. . . . . . g.125489
tacatgtgcgtaccacactctgttcctccatcagtgaacacttggcttgcttcctcttga c.*840
. . . . . . g.125549
ctattgggagtagtgctaatacagacacgggggtgcaaatatctctttgagactctgcct c.*900
. . . . . . g.125609
ttaattcctttaccacccagagttttatctttagcaaaataaccattaaagttgtttgcc c.*960
. . . . . . g.125669
ttttactttgcttggtctatcattttcctaccaaagtttgtcctcttaatatttgttgga c.*1020
. . . . . . g.125729
ttcctgttccttcaccccatccccaccctcatcttcccatgcccctgatggagttgcagt c.*1080
. . . . . . g.125789
gttgcagcccttttttgtttacttttcaaggcagcagcaaaagaaactgatgatatcagc c.*1140
. . . . . . g.125849
aggactgtgcagagttccctggaagaatgtcagccacaggaggccctcactcctccctca c.*1200
. . . . . . g.125909
ccacggaccagcagagggaggcgggaatgctggggagccccagcctcccacccctgcctc c.*1260
. . . . . . g.125969
ctcacattcttcctccctccatgtcctctccttcttctccttccttattcttgccttgat c.*1320
. . . . . . g.126029
tctttctctctttatattctttaactgcacttctgaactctgtgttaagttgctacattg c.*1380
. . . . . . g.126089
tgaggactgtgtctaacagtgagatttattattgggactgcacaaatcacttgtgaataa c.*1440
. g.126103
aatgtttaacggtg c.*1454
(downstream sequence)
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