(used for variant description)
(last modified May 16, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001173467.1 in the SP7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering SP7 transcript NM_001173467.1.
(upstream sequence)
g.5002
ac c.-121
. . . . . . g.5062
ccgttgcctgcactctccctgccagacctccagagaggagagactcgggacagccagccc c.-61
. . | 02 . . . . g.5574
caggttcccccag | ctctctccatctgcctggctccttgggacccgttccccagcctcagg c.-1
. . | 03 . . . . g.11839
ATGGCGTCCTCCCTGCTTGAG | GAGGAAGTTCACTATGGCTCCAGTCCCCTGGCCATGCTG c.60
M A S S L L E | E E V H Y G S S P L A M L p.20
. . . . . . g.11899
ACGGCAGCGTGCAGCAAATTTGGTGGCTCTAGCCCTCTGCGGGACTCAACAACTCTGGGC c.120
T A A C S K F G G S S P L R D S T T L G p.40
. . . . . . g.11959
AAAGCAGGCACAAAGAAGCCGTACTCTGTGGGCAGTGACCTTTCAGCCTCCAAAACCATG c.180
K A G T K K P Y S V G S D L S A S K T M p.60
. . . . . . g.12019
GGGGATGCTTATCCAGCCCCCTTTACAAGCACTAATGGGCTCCTTTCACCTGCAGGCAGT c.240
G D A Y P A P F T S T N G L L S P A G S p.80
. . . . . . g.12079
CCTCCAGCACCCACCTCAGGCTATGCTAATGATTACCCTCCCTTTTCCCACTCATTCCCT c.300
P P A P T S G Y A N D Y P P F S H S F P p.100
. . . . . . g.12139
GGGCCCACAGGCACCCAGGACCCTGGGCTACTAGTGCCCAAGGGGCACAGCTCTTCTGAC c.360
G P T G T Q D P G L L V P K G H S S S D p.120
. . . . . . g.12199
TGTCTGCCCAGTGTCTACACCTCTCTGGACATGACACACCCCTATGGCTCCTGGTACAAG c.420
C L P S V Y T S L D M T H P Y G S W Y K p.140
. . . . . . g.12259
GCAGGCATCCATGCAGGCATTTCACCAGGCCCAGGCAACACTCCTACTCCATGGTGGGAT c.480
A G I H A G I S P G P G N T P T P W W D p.160
. . . . . . g.12319
ATGCACCCTGGAGGCAACTGGCTAGGTGGTGGGCAGGGCCAGGGTGATGGGCTGCAAGGG c.540
M H P G G N W L G G G Q G Q G D G L Q G p.180
. . . . . . g.12379
ACACTGCCCACAGGTCCAGCTCAGCCTCCACTGAACCCCCAGCTGCCCACCTACCCATCT c.600
T L P T G P A Q P P L N P Q L P T Y P S p.200
. . . . . . g.12439
GACTTTGCTCCCCTTAATCCAGCCCCCTACCCAGCTCCCCACCTCTTGCAACCAGGGCCC c.660
D F A P L N P A P Y P A P H L L Q P G P p.220
. . . . . . g.12499
CAGCATGTCTTGCCCCAAGATGTCTATAAACCCAAGGCAGTGGGAAATAGTGGGCAGCTA c.720
Q H V L P Q D V Y K P K A V G N S G Q L p.240
. . . . . . g.12559
GAAGGGAGTGGTGGAGCCAAACCCCCACGGGGTGCAAGCACTGGGGGTAGTGGTGGATAT c.780
E G S G G A K P P R G A S T G G S G G Y p.260
. . . . . . g.12619
GGGGGCAGTGGGGCAGGGCGCTCCTCCTGCGACTGCCCTAATTGCCAGGAGCTAGAGCGG c.840
G G S G A G R S S C D C P N C Q E L E R p.280
. . . . . . g.12679
CTGGGAGCAGCAGCGGCTGGGCTGCGGAAGAAGCCCATCCACAGCTGCCACATCCCTGGC c.900
L G A A A A G L R K K P I H S C H I P G p.300
. . . . . . g.12739
TGCGGCAAGGTGTATGGCAAGGCTTCGCACCTGAAGGCCCACTTGCGCTGGCACACAGGC c.960
C G K V Y G K A S H L K A H L R W H T G p.320
. . . . . . g.12799
GAGAGGCCCTTCGTCTGCAACTGGCTCTTCTGCGGCAAGAGGTTCACTCGTTCGGATGAG c.1020
E R P F V C N W L F C G K R F T R S D E p.340
. . . . . . g.12859
CTGGAGCGTCATGTGCGCACTCACACCCGGGAGAAGAAGTTCACCTGCCTGCTCTGCTCC c.1080
L E R H V R T H T R E K K F T C L L C S p.360
. . . . . . g.12919
AAGCGCTTTACCCGAAGCGACCACCTGAGCAAACACCAGCGCACCCATGGAGAACCAGGC c.1140
K R F T R S D H L S K H Q R T H G E P G p.380
. . . . . . g.12979
CCGGGTCCCCCTCCCAGTGGCCCCAAGGAGCTGGGGGAGGGCCGCAGCACGGGGGAAGAG c.1200
P G P P P S G P K E L G E G R S T G E E p.400
. . . . . . g.13039
GAGGCCAGTCAGACGCCCCGACCTTCTGCCTCGCCAGCAACCCCAGAGAAAGCCCCTGGA c.1260
E A S Q T P R P S A S P A T P E K A P G p.420
. . . g.13075
GGCAGCCCTGAGCAGAGCAACTTGCTGGAGATCTGA c.1296
G S P E Q S N L L E I X p.431
. . . . . . g.13135
gccgggtggaaggtctcccaccccagggctgccctgacagtctctcttggctctctagac c.*60
. . . . . . g.13195
cactgcttgccaatcactctctttaccccatgcatgccatccttcggggctctctccctc c.*120
. . . . . . g.13255
tgtctccctcctggccattctgggcttgggtatctccttgcatgcctcctcagctcacct c.*180
. . . . . . g.13315
tctctcttcaccatgagactggctttccacaaactctcatctcaggccctccccttgtgc c.*240
. . . . . . g.13375
ctgatacctgcactccggcttcctagactctggccctgccacaccaacacactttctatt c.*300
. . . . . . g.13435
tgggctcccaacactatttctccatctcactccttgacatgtacccctttctgcttctca c.*360
. . . . . . g.13495
agcttatttcctgctgtccctcagcctccaggcttcagtcttcccaacttcttacaccat c.*420
. . . . . . g.13555
tgctttccattctccagaactcttttttcctttttacaaacacaatgataatgataattt c.*480
. . . . . . g.13615
attgccccctggtggcctcttcatcaggggtattggggttagtgacctggccagagggtg c.*540
. . . . . . g.13675
ccaagaggggggcagaccagtggggatctgatcccaaagatggggtgaccccagggtcag c.*600
. . . . . . g.13735
ggaggctgcccccaggcctgtatatttaacccctatgtaccaggagtaatgaatagtaat c.*660
. . . . . . g.13795
aattctatttatgtaagttatgatgacgggtcaggtagagtgagctggggagggaagtgg c.*720
. . . . . . g.13855
atccatttctgctaaggaaattctagtcaaatgcatctctgtatagacaaaatgttagtg c.*780
. . . . . . g.13915
gagaagatcttgttaatagaatgtctatcatcagaatctcagttgatagggtttctcttg c.*840
. . . . . . g.13975
taatgaagtctctacaaattgggttagctacatctctgctaaacagttgatggggtatct c.*900
. . . . . . g.14035
cttgattagggggatccctaatatccccagccccagccagaagctgtgaaacctcaagtc c.*960
. . . . . . g.14095
ctatggaggggagaaggactggaatgtaccccatctcccttgactgcagagcaggttcct c.*1020
. . . . . . g.14155
ccactgccccaccccttagacaccatgaccccatcaggttaatcccctgttgccatggtt c.*1080
. . . . . . g.14215
atggagagcttgcagctgccatcttagatgtgctctttggggaagcccatctaacaggag c.*1140
. . . . . . g.14275
gacattggtttgggggtgcacctcctgaagaatgggtggggaaggctttctctaggatca c.*1200
. . . . . . g.14335
gattcaaataagtatgtattgagtgcctactctgtgcaaggcactatgctagatctggtg c.*1260
. . . . . . g.14395
cctagaagccctgagaaagaacttaaagagctaggaggacagaggcccccaagctgatct c.*1320
. . . . . . g.14455
ggtggtgcatccacgcacccccaccctgggactttggatgctcccatctccacctccagt c.*1380
. . . . . . g.14515
gacttttaaagccgcttcgtgcctttcctgtaacgttggatcctccttttctgtcccctg c.*1440
. . . . . . g.14575
ctgtctcaaggccccaagttaaagggttaaagccgctggagcttggggagagaacattgt c.*1500
. . . . . . g.14635
ggaatggaagggatcatgccctttgtggagtcttttttttttaatttaataaataaaagt c.*1560
. g.14646
tggatttgaaa c.*1571
(downstream sequence)
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