(used for variant description)
(last modified June 8, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_152792.2 in the ASPRV1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_054918.1, covering ASPRV1 transcript NM_152792.2.
(upstream sequence)
. . . g.5037
gcagcagttgagtccatgtaagatgattgtgcacgtg c.-541
. . . . . . g.5097
tgtgtgtgtgtgtgtgtgtgtgtgtgtgtcctcactcacttaaaaaagaccatttctgtg c.-481
. . . . . . g.5157
cattctttatgctggaaccctcctctgcctccctctccaggaaatcccataggatcccat c.-421
. . . . . . g.5217
acctgctttagaatgtgtgtgagacacttcccagtgcctggcatgtggtaggagctcagt c.-361
. . . . . . g.5277
acatgtaaactgttttcctttgaccactcaaagtagtcacttgttggggaggccaatggc c.-301
. . . . . . g.5337
ggcttccccggtctctgagctgatgggcgtctggtccctgcctccccttccttcactggc c.-241
. . . . . . g.5397
tgatgacaaatacctgaatgtcatcacatcctccgtgtcctcatctgttattctggaaca c.-181
. . . . . . g.5457
caggccagggagggtacagggtagtcccccttcaacagaggctggcctttcttgggatgt c.-121
. . . . . . g.5517
gggctggctggtgttggtccaaggatggatgcagagggtgaggcacccatcctgctagtc c.-61
. . . . . . g.5577
cggccggatgctggcaggagggcggggtgaggaggggcggagcttccagaacaaaggaga c.-1
. . . . . . g.5637
ATGGGGAGCCCAGGGGCCAGCCTAGGCATCAAAAAGGCTCTGCAGAGTGAACAGGCCACA c.60
M G S P G A S L G I K K A L Q S E Q A T p.20
. . . . . . g.5697
GCACTGCCTGCCTCTGCCCCAGCAGTCAGCCAGCCGACCGCGCCTGCTCCCTCCTGCTTG c.120
A L P A S A P A V S Q P T A P A P S C L p.40
. . . . . . g.5757
CCCAAGGCCGGGCAAGTCATCCCCACTCTGCTTCGAGAGGCCCCGTTTTCCAGCGTGATT c.180
P K A G Q V I P T L L R E A P F S S V I p.60
. . . . . . g.5817
GCGCCGACACTGCTCTGTGGGTTTCTCTTCTTGGCGTGGGTTGCTGCTGAGGTTCCAGAG c.240
A P T L L C G F L F L A W V A A E V P E p.80
. . . . . . g.5877
GAGAGCAGCAGGATGGCCGGGAGCGGAGCCAGGAGTGAGGAAGGCCGCCGGCAGCATGCC c.300
E S S R M A G S G A R S E E G R R Q H A p.100
. . . . . . g.5937
TTCGTCCCGGAACCTTTTGATGGGGCCAATGTCGTCCCAAACCTCTGGCTGCACAGCTTT c.360
F V P E P F D G A N V V P N L W L H S F p.120
. . . . . . g.5997
GAAGTCATCAATGACCTCAACCATTGGGACCATATCACCAAGCTAAGGTTCCTGAAAGAG c.420
E V I N D L N H W D H I T K L R F L K E p.140
. . . . . . g.6057
TCCCTCAGAGGAGAGGCCCTGGGTGTCTACAATAGGCTCAGTCCCCAGGACCAGGGAGAC c.480
S L R G E A L G V Y N R L S P Q D Q G D p.160
. . . . . . g.6117
TATGGGACTGTGAAAGAGGCCCTCCTGAAGGCCTTTGGGGTCCCTGGGGCTGCCCCCAGC c.540
Y G T V K E A L L K A F G V P G A A P S p.180
. . . . . . g.6177
CACCTGCCCAAAGAGATCGTCTTTGCCAACAGCATGGGTAAGGGCTACTATCTCAAGGGG c.600
H L P K E I V F A N S M G K G Y Y L K G p.200
. . . . . . g.6237
AAGATTGGCAAAGTGCCCGTGAGGTTCCTGGTGGACTCTGGGGCCCAGGTCTCTGTGGTC c.660
K I G K V P V R F L V D S G A Q V S V V p.220
. . . . . . g.6297
CACCCAAACTTGTGGGAGGAGGTCACTGATGGCGATCTGGACACCCTGCAGCCCTTTGAG c.720
H P N L W E E V T D G D L D T L Q P F E p.240
. . . . . . g.6357
AATGTGGTAAAGGTGGCCAATGGTGCTGAAATGAAGATCCTGGGTGTCTGGGATACAGCG c.780
N V V K V A N G A E M K I L G V W D T A p.260
. . . . . . g.6417
GTGTCCCTAGGCAAGCTGAAGCTGAAGGCACAGTTCCTAGTGGCCAATGCGAGTGCCGAG c.840
V S L G K L K L K A Q F L V A N A S A E p.280
. . . . . . g.6477
GAAGCCATCATTGGCACTGATGTGCTCCAGGACCACAATGCTATCCTGGACTTTGAGCAC c.900
E A I I G T D V L Q D H N A I L D F E H p.300
. . . . . . g.6537
CGCACATGCACCCTGAAAGGGAAGAAGTTTCGCCTTCTGCCTGTGGGAGGGTCCCTGGAA c.960
R T C T L K G K K F R L L P V G G S L E p.320
. . . . . . g.6597
GATGAGTTTGACCTGGAGCTCATAGAGGAGGACCCCTCCTCAGAAGAAGGGCGGCAGGAG c.1020
D E F D L E L I E E D P S S E E G R Q E p.340
. g.6609
CTATCCCACTGA c.1032
L S H X p.343
. . . . . . g.6669
gaagccaccttttctttaacctcctaaatattggtgggaagacccaccgctgtggggggg c.*60
. . . . . . g.6729
gttgcatatcctcatgggggtcactgggcttggccagtctgcttatcaactcttgctctt c.*120
. . . . . . g.6789
ctctcccctttgcctccctctgcaggggccttaatctgcccctggtaggggaggcttcca c.*180
. . . . . . g.6849
ctgaacaggcacaggtgagggagagcaggctggcttagagggacagggtccccatggtca c.*240
. . . . . . g.6909
tcaagctgctgttgatgacaaagactcaaaggctggaagagctcccaaggaagctagaaa c.*300
. . . . . . g.6969
tgcttgtctttgaaagaactgtgggaccccttcagattccctgaggtatggcttggtcac c.*360
. . . . . . g.7029
tctcaggtcctcaaagcctgtcttagttgggctgggtcctagctgcagggtctttgtgag c.*420
. . . . . . g.7089
ggtcacagttgctctgggacacctccctgaagagcctttccacctgtacaatcgtatttt c.*480
. . . . . . g.7149
ctttctgtcatttgctttgaagcccattgtgccttatgccaataattcaattgctgcaaa c.*540
. . g.7177
caccaataaagattgattcatggaaaaa c.*568
(downstream sequence)
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