(used for variant description)
(last modified February 14, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000493.3 in the COL10A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008032.1, covering COL10A1 transcript NM_000493.3.
(upstream sequence)
. . . g.5036
caccttctgcactgctcatctgggcagaggaagctt c.-61
. . . . . | 02 . g.5641
cagaaagctgccaaggcaccatctccaggaactcccagcacgcag | aatccatctgagaat c.-1
. . . . . . g.5701
ATGCTGCCACAAATACCCTTTTTGCTGCTAGTATCCTTGAACTTGGTTCATGGAGTGTTT c.60
M L P Q I P F L L L V S L N L V H G V F p.20
. . . . . . g.5761
TACGCTGAACGATACCAAATGCCCACAGGCATAAAAGGCCCACTACCCAACACCAAGACA c.120
Y A E R Y Q M P T G I K G P L P N T K T p.40
. . . | 03 . . . g.9198
CAGTTCTTCATTCCCTACACCATAAAGAGTAAAG | GTATAGCAGTAAGAGGAGAGCAAGGT c.180
Q F F I P Y T I K S K G | I A V R G E Q G p.60
. . . . . . g.9258
ACTCCTGGTCCACCAGGCCCTGCTGGACCTCGAGGGCACCCAGGTCCTTCTGGACCACCA c.240
T P G P P G P A G P R G H P G P S G P P p.80
. . . . . . g.9318
GGAAAACCAGGCTACGGAAGTCCTGGACTCCAAGGAGAGCCAGGGTTGCCAGGACCACCG c.300
G K P G Y G S P G L Q G E P G L P G P P p.100
. . . . . . g.9378
GGACCATCAGCTGTAGGGAAACCAGGTGTGCCAGGACTCCCAGGAAAACCAGGAGAGAGA c.360
G P S A V G K P G V P G L P G K P G E R p.120
. . . . . . g.9438
GGACCATATGGACCAAAAGGAGATGTTGGACCAGCTGGCCTACCAGGACCCCGGGGCCCA c.420
G P Y G P K G D V G P A G L P G P R G P p.140
. . . . . . g.9498
CCAGGACCACCTGGAATCCCTGGACCGGCTGGAATTTCTGTGCCAGGAAAACCTGGACAA c.480
P G P P G I P G P A G I S V P G K P G Q p.160
. . . . . . g.9558
CAGGGACCCACAGGAGCCCCAGGACCCAGGGGCTTTCCTGGAGAAAAGGGTGCACCAGGA c.540
Q G P T G A P G P R G F P G E K G A P G p.180
. . . . . . g.9618
GTCCCTGGTATGAATGGACAGAAAGGGGAAATGGGATATGGTGCTCCTGGTCGTCCAGGT c.600
V P G M N G Q K G E M G Y G A P G R P G p.200
. . . . . . g.9678
GAGAGGGGTCTTCCAGGCCCTCAGGGTCCCACAGGACCATCTGGCCCTCCTGGAGTGGGA c.660
E R G L P G P Q G P T G P S G P P G V G p.220
. . . . . . g.9738
AAAAGAGGTGAAAATGGGGTTCCAGGACAGCCAGGCATCAAAGGTGATAGAGGTTTTCCG c.720
K R G E N G V P G Q P G I K G D R G F P p.240
. . . . . . g.9798
GGAGAAATGGGACCAATTGGCCCACCAGGTCCCCAAGGCCCTCCTGGGGAACGAGGGCCA c.780
G E M G P I G P P G P Q G P P G E R G P p.260
. . . . . . g.9858
GAAGGCATTGGAAAGCCAGGAGCTGCTGGAGCCCCAGGCCAGCCAGGGATTCCAGGAACA c.840
E G I G K P G A A G A P G Q P G I P G T p.280
. . . . . . g.9918
AAAGGTCTCCCTGGGGCTCCAGGAATAGCTGGGCCCCCAGGGCCTCCTGGCTTTGGGAAA c.900
K G L P G A P G I A G P P G P P G F G K p.300
. . . . . . g.9978
CCAGGCTTGCCAGGCCTGAAGGGAGAAAGAGGACCTGCTGGCCTTCCTGGGGGTCCAGGT c.960
P G L P G L K G E R G P A G L P G G P G p.320
. . . . . . g.10038
GCCAAAGGGGAACAAGGGCCAGCAGGTCTTCCTGGGAAGCCAGGTCTGACTGGACCCCCT c.1020
A K G E Q G P A G L P G K P G L T G P P p.340
. . . . . . g.10098
GGGAATATGGGACCCCAAGGACCAAAAGGCATCCCGGGTAGCCATGGTCTCCCAGGCCCT c.1080
G N M G P Q G P K G I P G S H G L P G P p.360
. . . . . . g.10158
AAAGGTGAGACAGGGCCAGCTGGGCCTGCAGGATACCCTGGGGCTAAGGGTGAAAGGGGT c.1140
K G E T G P A G P A G Y P G A K G E R G p.380
. . . . . . g.10218
TCCCCTGGGTCAGATGGAAAACCAGGGTACCCAGGAAAACCAGGTCTCGATGGTCCTAAG c.1200
S P G S D G K P G Y P G K P G L D G P K p.400
. . . . . . g.10278
GGTAACCCAGGGTTACCAGGTCCAAAAGGTGATCCTGGAGTTGGAGGACCTCCTGGTCTC c.1260
G N P G L P G P K G D P G V G G P P G L p.420
. . . . . . g.10338
CCAGGCCCTGTGGGCCCAGCAGGAGCAAAGGGAATGCCCGGACACAATGGAGAGGCTGGC c.1320
P G P V G P A G A K G M P G H N G E A G p.440
. . . . . . g.10398
CCAAGAGGTGCCCCTGGAATACCAGGTACTAGAGGCCCTATTGGGCCACCAGGCATTCCA c.1380
P R G A P G I P G T R G P I G P P G I P p.460
. . . . . . g.10458
GGATTCCCTGGGTCTAAAGGGGATCCAGGAAGTCCCGGTCCTCCTGGCCCAGCTGGCATA c.1440
G F P G S K G D P G S P G P P G P A G I p.480
. . . . . . g.10518
GCAACTAAGGGCCTCAATGGACCCACCGGGCCACCAGGGCCTCCAGGTCCAAGAGGCCAC c.1500
A T K G L N G P T G P P G P P G P R G H p.500
. . . . . . g.10578
TCTGGAGAGCCTGGTCTTCCAGGGCCCCCTGGGCCTCCAGGCCCACCAGGTCAAGCAGTC c.1560
S G E P G L P G P P G P P G P P G Q A V p.520
. . . . . . g.10638
ATGCCTGAGGGTTTTATAAAGGCAGGCCAAAGGCCCAGTCTTTCTGGGACCCCTCTTGTT c.1620
M P E G F I K A G Q R P S L S G T P L V p.540
. . . . . . g.10698
AGTGCCAACCAGGGGGTAACAGGAATGCCTGTGTCTGCTTTTACTGTTATTCTCTCCAAA c.1680
S A N Q G V T G M P V S A F T V I L S K p.560
. . . . . . g.10758
GCTTACCCAGCAATAGGAACTCCCATACCATTTGATAAAATTTTGTATAACAGGCAACAG c.1740
A Y P A I G T P I P F D K I L Y N R Q Q p.580
. . . . . . g.10818
CATTATGACCCAAGGACTGGAATCTTTACTTGTCAGATACCAGGAATATACTATTTTTCA c.1800
H Y D P R T G I F T C Q I P G I Y Y F S p.600
. . . . . . g.10878
TACCACGTGCATGTGAAAGGGACTCATGTTTGGGTAGGCCTGTATAAGAATGGCACCCCT c.1860
Y H V H V K G T H V W V G L Y K N G T P p.620
. . . . . . g.10938
GTAATGTACACCTATGATGAATACACCAAAGGCTACCTGGATCAGGCTTCAGGGAGTGCC c.1920
V M Y T Y D E Y T K G Y L D Q A S G S A p.640
. . . . . . g.10998
ATCATCGATCTCACAGAAAATGACCAGGTGTGGCTCCAGCTTCCCAATGCCGAGTCAAAT c.1980
I I D L T E N D Q V W L Q L P N A E S N p.660
. . . . . . g.11058
GGCCTATACTCCTCTGAGTATGTCCACTCCTCTTTCTCAGGATTCCTAGTGGCTCCAATG c.2040
G L Y S S E Y V H S S F S G F L V A P M p.680
g.11061
TGA c.2043
X p.680
. . . . . . g.11121
gtacacacagagctaatctaaatcttgtgctagaaaaagcattctctaactctaccccac c.*60
. . . . . . g.11181
cctacaaaatgcatatggaggtaggctgaaaagaatgtaatttttattttctgaaataca c.*120
. . . . . . g.11241
gatttgagctatcagaccaacaaaccttccccctgaaaagtgagcagcaacgtaaaaacg c.*180
. . . . . . g.11301
tatgtgaagcctctcttgaatttctagttagcaatcttaaggctctttaaggttttctcc c.*240
. . . . . . g.11361
aatattaaaaaatatcaccaaagaagtcctgctatgttaaaaacaaacaacaaaaaacaa c.*300
. . . . . . g.11421
acaacaaaaaaaaaattaaaaaaaaaaacagaaatagagctctaagttatgtgaaatttg c.*360
. . . . . . g.11481
atttgagaaactcggcatttcctttttaaaaaagcctgtttctaactatgaatatgagaa c.*420
. . . . . . g.11541
cttctaggaaacatccaggaggtatcatataactttgtagaacttaaatacttgaatatt c.*480
. . . . . . g.11601
caaatttaaaagacactgtatcccctaaaatatttctgatggtgcactactctgaggcct c.*540
. . . . . . g.11661
gtatggcccctttcatcaatatctattcaaatatacaggtgcatatatacttgttaaagc c.*600
. . . . . . g.11721
tcttatataaaaaagccccaaaatattgaagttcatctgaaatgcaaggtgctttcatca c.*660
. . . . . . g.11781
atgaaccttttcaaacttttctatgattgcagagaagctttttatatacccagcataact c.*720
. . . . . . g.11841
tggaaacaggtatctgacctattcttatttagttaacacaagtgtgattaatttgatttc c.*780
. . . . . . g.11901
tttaattccttattgaatcttatgtgatatgattttctggatttacagaacattagcaca c.*840
. . . . . . g.11961
tgtaccttgtgcctcccattcaagtgaagttataatttacactgagggtttcaaaattcg c.*900
. . . . . . g.12021
actagaagtggagatatattatttatttatgcactgtactgtatttttatattgctgttt c.*960
. . . . . . g.12081
aaaacttttaagctgtgcctcacttattaaagcacaaaatgttttacctactccttattt c.*1020
. . . . . . g.12141
acgacgcaataaaataacatcaatagatttttaggctgaattaatttgaaagcagcaatt c.*1080
. . . . . . g.12201
tgctgttctcaaccattctttcaaggcttttcattgttcaaagttaataaaaaagtagga c.*1140
. g.12212
caataaagtga c.*1151
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 12
©2004-2015 Leiden University Medical Center