(used for variant description)
(last modified February 22, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001258038.1 in the SPRY1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering SPRY1 transcript NM_001258038.1.
(upstream sequence)
. g.5019
gtagccggagtgagaccgc c.-421
. . . . . . g.5079
tctgcaaaccactgcgtgctttgcagagtgattatcagcacagttccctgccctggataa c.-361
. . . . . . | 02 g.5817
ggaacagctacagtcgctgttaaatgtgcctgaaaagcaatttgcaatctttgcattag | g c.-301
. . . . . . g.5877
catttcggccgtggaaccccaggctcggaggactgggtgtgagcgctgcccgggagaggc c.-241
. . . . . . g.5937
tgacctgccgggaccggagtgcccggggacgctgtgcccccacttgcccaacgtgcggaa c.-181
. . . . . . g.5997
tcggctaagcgcgtcggcctgcgcggggcacaagggacgacgcccgcctttctctctccg c.-121
. . . . . . g.6057
agaaggatccccaaacctcactctcttcactcctccccgctaaaaaaaaaaaaaaaaaga c.-61
. | 03 . . . . . g.9797
aaagg | gatttcagatgcatgccaggtttccactgattgccagaactcgagatcactacac c.-1
. . . . . . g.9857
ATGGATCCCCAAAATCAACATGGCAGTGGCAGTTCGTTAGTTGTGATCCAGCAGCCTTCT c.60
M D P Q N Q H G S G S S L V V I Q Q P S p.20
. . . . . . g.9917
TTGGATAGCCGTCAGAGATTAGACTATGAGAGAGAGATTCAGCCTACTGCTATTTTGTCC c.120
L D S R Q R L D Y E R E I Q P T A I L S p.40
. . . . . . g.9977
TTAGACCAGATCAAGGCCATAAGAGGCAGCAATGAATACACAGAAGGGCCTTCGGTGGTG c.180
L D Q I K A I R G S N E Y T E G P S V V p.60
. . . . . . g.10037
AAAAGACCTGCTCCTCGGACAGCACCAAGACAAGAAAAGCATGAAAGGACTCATGAAATC c.240
K R P A P R T A P R Q E K H E R T H E I p.80
. . . . . . g.10097
ATACCAATTAATGTGAATAATAACTACGAGCACAGACACACAAGCCACCTGGGACATGCA c.300
I P I N V N N N Y E H R H T S H L G H A p.100
. . . . . . g.10157
GTACTCCCAAGTAATGCCAGGGGCCCCATTTTGAGCAGATCAACCAGCACTGGAAGTGCA c.360
V L P S N A R G P I L S R S T S T G S A p.120
. . . . . . g.10217
GCCAGCTCTGGGAGCAACAGCAGTGCCTCTTCTGAACAGGGACTGTTAGGAAGGTCACCA c.420
A S S G S N S S A S S E Q G L L G R S P p.140
. . . . . . g.10277
CCAACCAGACCAGTCCCTGGTCATAGGTCTGAAAGGGCAATCCGGACCCAGCCCAAGCAA c.480
P T R P V P G H R S E R A I R T Q P K Q p.160
. . . . . . g.10337
CTGATTGTGGATGACTTGAAGGGTTCCTTGAAAGAGGACCTGACACAGCACAAGTTCATT c.540
L I V D D L K G S L K E D L T Q H K F I p.180
. . . . . . g.10397
TGTGAACAGTGTGGGAAGTGCAAGTGTGGAGAATGCACTGCTCCCAGGACCCTACCATCC c.600
C E Q C G K C K C G E C T A P R T L P S p.200
. . . . . . g.10457
TGTTTGGCCTGTAACCGGCAGTGCCTTTGCTCTGCTGAGAGCATGGTGGAATATGGAACC c.660
C L A C N R Q C L C S A E S M V E Y G T p.220
. . . . . . g.10517
TGCATGTGCTTAGTCAAGGGCATCTTCTACCACTGCTCCAATGACGACGAAGGGGATTCC c.720
C M C L V K G I F Y H C S N D D E G D S p.240
. . . . . . g.10577
TATTCAGATAATCCTTGCTCCTGTTCACAATCACACTGCTGCTCTAGATACCTGTGTATG c.780
Y S D N P C S C S Q S H C C S R Y L C M p.260
. . . . . . g.10637
GGAGCCATGTCTTTATTTTTACCTTGCTTACTCTGTTATCCTCCTGCTAAAGGATGCCTG c.840
G A M S L F L P C L L C Y P P A K G C L p.280
. . . . . . g.10697
AAGCTGTGCAGGAGGTGTTATGACTGGATCCATCGCCCAGGGTGCAGATGTAAGAACTCC c.900
K L C R R C Y D W I H R P G C R C K N S p.300
. . . . . . g.10757
AACACTGTCTATTGTAAGCTGGAGAGCTGCCCCTCCCGGGGTCAGGGTAAACCATCATGA c.960
N T V Y C K L E S C P S R G Q G K P S X p.319
. . . . . . g.10817
tttttggaggtgggttgtacctcctgaacttttagctttcaagttgtggctgttttttgt c.*60
. . . . . . g.10877
ttttgtttttgtttttgttttctttagaatttttccctgtttcccaccttctcttcccct c.*120
. . . . . . g.10937
gttgccaaggtctaactcatggatttttctctttcctcatggatgatcttcagcaagagt c.*180
. . . . . . g.10997
ggactgggaagctgcacctggctcccactttcaacaagagcctctgccatccacttgagg c.*240
. . . . . . g.11057
gtattgagagccagtgggcttttgtgtagcctttttgttctgcaagcaactttctaaagt c.*300
. . . . . . g.11117
tgtgtacatgaacatacacccacatccagactacagtgatttagagttgttttgattggg c.*360
. . . . . . g.11177
taccgtgggagcagggaaattggttttttaaaaagcaactgtttaattgcttaaataagc c.*420
. . . . . . g.11237
tatgtattaaatctgtctccagttagggctatcttcctagcataggccccttaagtagca c.*480
. . . . . . g.11297
tgggggatatattttttgctataacgtaaaaattttcctttaaccactgccctctccttc c.*540
. . . . . . g.11357
tttctccttcaaggttctttccccctcagttttgttgttgtcttactctggagatgccaa c.*600
. . . . . . g.11417
gtgtattttttctttctatgtaattttagattcgccttacaatgtaaatcttcacattgg c.*660
. . . . . . g.11477
agataatattggttggaccttgcccatcttcactctagccttcgtatttgtgaaggactc c.*720
. . . . . . g.11537
agccaccttccttcttcaccccatgcttctcaccaaatttttgttgtcattgagggcact c.*780
. . . . . . g.11597
tggataactcaagttgatatttatagctgatcaatctatatgtgtcacagaactatgctg c.*840
. . . . . . g.11657
cctaaagtgatcttggctccttaatggtccttttggccccttggatagttaacagctgag c.*900
. . . . . . g.11717
taattctaatctcttctgtgttttccttgccttaaccacaaattgtggtgctttttgtat c.*960
. . . . . . g.11777
attttatgtataaatcacaaagttgaattctgactatttttaagacaaaagtctgttaaa c.*1020
. . . . . . g.11837
cttttttattgtaaagaatatttattatgcgaatctctattattttatggtatttattgc c.*1080
. . . . . . g.11897
aaaagactgttgaaatgtactcatgtttgaatataacaaaatatcaatacttaacggaaa c.*1140
. . . . . . g.11957
ataaggtgacacgaagaaagtacatatgttaactataatgcagaaaatatattaattaat c.*1200
g.11966
gaaactgtc c.*1209
(downstream sequence)
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