(used for variant description)
(last modified March 6, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_003637.3 in the ITGA10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering ITGA10 transcript NM_003637.3.
(upstream sequence)
. g.5016
gggaaagtgaagaaaa c.-61
. . . . . . g.5076
cagaaaaggagagggacagaggccagaggacttctcatactggacagaaaccgatcaggc c.-1
. . . . . | 02 . g.7631
ATGGAACTCCCCTTCGTCACTCACCTGTTCTTGCCCCTGGTGTTCCTGACAG | GTCTCTGC c.60
M E L P F V T H L F L P L V F L T G | L C p.20
. . . . . . g.7691
TCCCCCTTTAACCTGGATGAACATCACCCACGCCTATTCCCAGGGCCACCAGAAGCTGAA c.120
S P F N L D E H H P R L F P G P P E A E p.40
. . . . | 03 . . g.7954
TTTGGATACAGTGTCTTACAACATGTTGGGGGTGGACAGCGATG | GATGCTGGTGGGCGCC c.180
F G Y S V L Q H V G G G Q R W | M L V G A p.60
. . . . . . g.8014
CCCTGGGATGGGCCTTCAGGCGACCGGAGGGGGGACGTTTATCGCTGCCCTGTAGGGGGG c.240
P W D G P S G D R R G D V Y R C P V G G p.80
. . . | 04 . . . g.8290
GCCCACAATGCCCCATGTGCCAAGGGCCACTTAG | GTGACTACCAACTGGGAAATTCATCT c.300
A H N A P C A K G H L G | D Y Q L G N S S p.100
. . . . . . g.8350
CATCCTGCTGTGAATATGCACCTGGGGATGTCTCTGTTAGAGACAGATGGTGATGGGGGA c.360
H P A V N M H L G M S L L E T D G D G G p.120
| 05 . . . . . . g.8634
TTCATG | GCCTGTGCCCCTCTCTGGTCTCGTGCTTGTGGCAGCTCTGTCTTCAGTTCTGGG c.420
F M | A C A P L W S R A C G S S V F S S G p.140
. . . . . . g.8694
ATATGTGCCCGTGTGGATGCTTCATTCCAGCCTCAGGGAAGCCTGGCACCCACTGCCCAA c.480
I C A R V D A S F Q P Q G S L A P T A Q p.160
| 06 . . . . . . g.10336
C | GCTGCCCAACATACATGGATGTTGTCATTGTCTTGGATGGCTCCAACAGCATCTACCCC c.540
R | C P T Y M D V V I V L D G S N S I Y P p.180
. . . . . . g.10396
TGGTCTGAAGTTCAGACCTTCCTACGAAGACTGGTAGGGAAACTGTTTATTGACCCAGAA c.600
W S E V Q T F L R R L V G K L F I D P E p.200
| 07 . . . . . g.10939
CAGATACAG | GTGGGACTGGTACAGTATGGGGAGAGCCCTGTACATGAGTGGTCCCTGGGA c.660
Q I Q | V G L V Q Y G E S P V H E W S L G p.220
. . . . . . g.10999
GATTTCCGAACGAAGGAAGAAGTGGTGAGAGCAGCAAAGAACCTCAGTCGGCGGGAGGGA c.720
D F R T K E E V V R A A K N L S R R E G p.240
. . . | 08 . . g.12147
CGAGAAACAAAGACTGCCCAAGCAATAATGGTGGCCTG | CACAGAAGGGTTCAGTCAGTCC c.780
R E T K T A Q A I M V A C | T E G F S Q S p.260
. . . . . . g.12207
CATGGGGGCCGACCCGAGGCTGCCAGGCTACTGGTGGTTGTCACTGATGGAGAGTCCCAT c.840
H G G R P E A A R L L V V V T D G E S H p.280
. . . . . . g.12267
GATGGAGAGGAGCTTCCTGCAGCACTAAAGGCCTGTGAGGCTGGAAGAGTGACACGCTAT c.900
D G E E L P A A L K A C E A G R V T R Y p.300
| 09 . . . . . g.12518
GGGATTGCA | GTCCTTGGTCACTACCTCCGGCGGCAGCGAGATCCCAGCTCTTTCCTGAGA c.960
G I A | V L G H Y L R R Q R D P S S F L R p.320
. . . . . . g.12578
GAAATTAGAACTATTGCCAGTGATCCAGATGAGCGATTCTTTTTCAATGTCACAGATGAG c.1020
E I R T I A S D P D E R F F F N V T D E p.340
. . . . . | 10 . g.12772
GCTGCTCTGACTGACATTGTGGATGCACTAGGAGATCGGATTTTTGGCCTTGAAG | GGTCC c.1080
A A L T D I V D A L G D R I F G L E G | S p.360
. . . . . . g.12832
CATGCAGAAAACGAAAGCTCCTTTGGGCTGGAAATGTCTCAGATTGGTTTCTCCACTCAT c.1140
H A E N E S S F G L E M S Q I G F S T H p.380
| 11 . . . . . g.13116
CGGCTAAAG | GATGGGATTCTTTTTGGGATGGTGGGGGCCTATGACTGGGGAGGCTCTGTG c.1200
R L K | D G I L F G M V G A Y D W G G S V p.400
. . . . . . g.13176
CTATGGCTTGAAGGAGGCCACCGCCTTTTCCCCCCACGAATGGCACTGGAAGACGAGTTC c.1260
L W L E G G H R L F P P R M A L E D E F p.420
. . . | 12 . . . g.13448
CCCCCTGCATTGCAGAACCATGCAGCCTACCTGG | GTTACTCTGTTTCTTCCATGCTTTTG c.1320
P P A L Q N H A A Y L G | Y S V S S M L L p.440
. . . . . . g.13508
CGGGGTGGACGCCGCCTGTTTCTCTCTGGGGCTCCTCGATTTAGACATCGAGGAAAAGTC c.1380
R G G R R L F L S G A P R F R H R G K V p.460
. . . . . . g.13568
ATCGCCTTCCAGCTTAAGAAAGATGGGGCTGTGAGGGTTGCCCAGAGCCTCCAGGGGGAG c.1440
I A F Q L K K D G A V R V A Q S L Q G E p.480
| 13 . . . . . . g.13865
CAG | ATTGGTTCATACTTTGGCAGTGAGCTCTGCCCATTGGATACAGATAGGGATGGAACA c.1500
Q | I G S Y F G S E L C P L D T D R D G T p.500
. . . . . . g.13925
ACTGATGTCTTACTTGTGGCTGCCCCCATGTTCCTGGGACCCCAGAACAAGGAAACAGGA c.1560
T D V L L V A A P M F L G P Q N K E T G p.520
. . | 14. . . . g.14126
CGTGTTTATGTGTATCTGGTAGGCCAG | CAGTCCTTGCTGACCCTCCAAGGAACACTTCAG c.1620
R V Y V Y L V G Q | Q S L L T L Q G T L Q p.540
. . . . . . g.14186
CCAGAACCCCCCCAGGATGCTCGGTTTGGCTTTGCCATGGGAGCTCTTCCTGATCTGAAC c.1680
P E P P Q D A R F G F A M G A L P D L N p.560
. . . . . . g.14246
CAAGATGGTTTTGCTGATGTGGCTGTGGGGGCGCCTCTGGAAGATGGGCACCAGGGAGCA c.1740
Q D G F A D V A V G A P L E D G H Q G A p.580
. . . . . | 15 . g.14908
CTGTACCTGTACCATGGAACCCAGAGTGGAGTCAGGCCCCATCCTGCCCAG | AGGATTGCT c.1800
L Y L Y H G T Q S G V R P H P A Q | R I A p.600
. . . . . . g.14968
GCTGCCTCCATGCCACATGCCCTCAGCTACTTTGGCCGAAGTGTGGATGGTCGGCTAGAT c.1860
A A S M P H A L S Y F G R S V D G R L D p.620
. . . . . . g.15028
CTGGATGGAGATGATCTGGTCGATGTGGCTGTGGGTGCCCAGGGGGCAGCCATCCTGCTC c.1920
L D G D D L V D V A V G A Q G A A I L L p.640
| 16 . . . . . . g.15803
AG | CTCCCGGCCCATTGTCCATCTGACCCCATCACTGGAGGTGACCCCACAGGCCATCAGT c.1980
S | S R P I V H L T P S L E V T P Q A I S p.660
. . . . . . g.15863
GTGGTTCAGAGGGACTGTAGGCGGCGAGGCCAAGAGGCAGTCTGTCTGACTGCAGCCCTT c.2040
V V Q R D C R R R G Q E A V C L T A A L p.680
. . . . | 17 . g.16019
TGCTTCCAAGTGACCTCCCGTACTCCTGGTCGCTGGGATCACCAATTCT | ACATGAGGTTC c.2100
C F Q V T S R T P G R W D H Q F Y | M R F p.700
. . . . . . g.16079
ACCGCATCACTGGATGAATGGACTGCTGGGGCACGTGCAGCATTTGATGGCTCTGGCCAG c.2160
T A S L D E W T A G A R A A F D G S G Q p.720
. . . . . . g.16139
AGGTTGTCCCCTCGGAGGCTCCGGCTCAGTGTGGGGAATGTCACTTGTGAGCAGCTACAC c.2220
R L S P R R L R L S V G N V T C E Q L H p.740
. | 18 . . . . . g.16911
TTCCATGTGCTG | GATACATCAGATTACCTCCGGCCAGTGGCCTTGACTGTGACCTTTGCC c.2280
F H V L | D T S D Y L R P V A L T V T F A p.760
. . . . . . g.16971
TTGGACAATACTACAAAGCCAGGGCCTGTGCTGAATGAGGGCTCACCCACCTCTATACAA c.2340
L D N T T K P G P V L N E G S P T S I Q p.780
| 19 . . . . . . g.17240
AAGCTG | GTCCCCTTCTCAAAGGATTGTGGCCCTGACAATGAATGTGTCACAGACCTGGTG c.2400
K L | V P F S K D C G P D N E C V T D L V p.800
. . . | 20 . . . g.17461
CTTCAAGTGAATATGGACATCAGAGGCTCCAG | GAAGGCCCCATTTGTGGTTCGAGGTGGC c.2460
L Q V N M D I R G S R | K A P F V V R G G p.820
. . . . . . g.17521
CGGCGGAAAGTGCTGGTATCTACAACTCTGGAGAACAGAAAGGAAAATGCTTACAATACG c.2520
R R K V L V S T T L E N R K E N A Y N T p.840
. . . . . | 21 . g.17753
AGCCTGAGTCTCATCTTCTCTAGAAACCTCCACCTGGCCAGTCTCACTCCTCAG | AGAGAG c.2580
S L S L I F S R N L H L A S L T P Q | R E p.860
. . . . . . g.17813
AGCCCAATAAAGGTGGAATGTGCCGCCCCTTCTGCTCATGCCCGGCTCTGCAGTGTGGGG c.2640
S P I K V E C A A P S A H A R L C S V G p.880
. . | 22. . . . g.18032
CATCCTGTCTTCCAGACTGGAGCCAAG | GTGACCTTTCTGCTAGAGTTTGAGTTTAGCTGC c.2700
H P V F Q T G A K | V T F L L E F E F S C p.900
. . . . | 23 . . g.18244
TCCTCTCTCCTGAGCCAGGTCTTCGTGAAGCTGACTGCCAGCAG | TGACAGCCTGGAGAGA c.2760
S S L L S Q V F V K L T A S S | D S L E R p.920
. . . . . . g.18304
AATGGGACCCTTCAAGATAACACAGCCCAGACCTCAGCCTACATCCAATATGAGCCCCAC c.2820
N G T L Q D N T A Q T S A Y I Q Y E P H p.940
. | 24 . . . . . g.18780
CTCCTGTTCTCTAG | TGAGTCTACCCTGCACCGCTATGAGGTTCACCCATATGGGACCCTC c.2880
L L F S S | E S T L H R Y E V H P Y G T L p.960
. . . | 25 . . g.19011
CCAGTGGGTCCTGGCCCAGAATTCAAAACCACTCTCAGG | GTTCAGAACCTAGGCTGCTAT c.2940
P V G P G P E F K T T L R | V Q N L G C Y p.980
. . . . . . g.19071
GTGGTCAGTGGCCTCATCATCTCAGCCCTCCTTCCAGCTGTGGCCCATGGGGGCAATTAC c.3000
V V S G L I I S A L L P A V A H G G N Y p.1000
. . . | 26 . . . g.19402
TTCCTATCACTGTCTCAAGTCATCACTAACAAT | GCAAGCTGCATAGTGCAGAACCTGACT c.3060
F L S L S Q V I T N N | A S C I V Q N L T p.1020
. . . . . | 27 . g.19699
GAACCCCCAGGCCCACCTGTGCATCCAGAGGAGCTTCAACACACAAACAGACTG | AATGGG c.3120
E P P G P P V H P E E L Q H T N R L | N G p.1040
. . . . . . g.19759
AGCAATACTCAGTGTCAGGTGGTGAGGTGCCACCTTGGGCAGCTGGCAAAGGGGACTGAG c.3180
S N T Q C Q V V R C H L G Q L A K G T E p.1060
. . . . | 28 . g.21463
GTCTCTGTTGGACTATTGAGGCTGGTTCACAATGAATTTTTCCGAAGA | GCCAAGTTCAAG c.3240
V S V G L L R L V H N E F F R R | A K F K p.1080
. . . . . . g.21523
TCCCTGACGGTGGTCAGCACCTTTGAGCTGGGAACCGAAGAGGGCAGTGTCCTACAGCTG c.3300
S L T V V S T F E L G T E E G S V L Q L p.1100
. . | 29 . . . . g.21848
ACTGAAGCCTCCCGTTGGAGTGAG | AGCCTCTTGGAGGTGGTTCAGACCCGGCCTATCCTC c.3360
T E A S R W S E | S L L E V V Q T R P I L p.1120
. . . . . . g.21908
ATCTCCCTGTGGATCCTCATAGGCAGTGTCCTGGGAGGGTTGCTCCTGCTTGCTCTCCTT c.3420
I S L W I L I G S V L G G L L L L A L L p.1140
. | 30 . . . . g.22265
GTCTTCTGCCTGTGGAAG | CTTGGCTTCTTTGCCCATAAGAAAATCCCTGAGGAAGAAAAA c.3480
V F C L W K | L G F F A H K K I P E E E K p.1160
. . g.22289
AGAGAAGAGAAGTTGGAGCAATGA c.3504
R E E K L E Q X p.1167
. . . . . . g.22349
atgtagaataagggtctagaaagtcctccctggcagcttcttcaagagacttgcataaaa c.*60
. . . . . . g.22409
gcagaggtttgggggctcagatgggacaagaagccgcctctggactatctccccagacca c.*120
. . . . . . g.22469
gcagcctgacttgacttttgagtcctagggatgctgctggctagagatgaggctttacct c.*180
. . . . . . g.22529
cagacaagaagagctggcaccaaaactagccatgctcccaccctctgcttccctcctcct c.*240
. . . . . . g.22589
cgtgatcctggttccatagccaacactggggcttttgtttggggtccttttatccccagg c.*300
. . . . . . g.22649
aatcaataatttttttgcctaggtgcctgactcctttcagattccctctttatcttccct c.*360
. . . . . . g.22709
cacagtttggaaaggatgagggttatcttcctcgattcttccaccctctcactttcctgc c.*420
. . . . . . g.22769
ctgttccccactccacaggagggagctgacgttggcttgaaaggagtaaagtcaacatct c.*480
. . . . . . g.22829
gctgctttcctgtggactctggtgattcatagagccggatggggagagtcaacaggaaaa c.*540
. . . . . . g.22889
aaggagggaggaggaaaagccacaagagacattctgtacaattccaaggaacagagaagc c.*600
. . . . . . g.22949
ctttagacaggcaactgccatcccccctgaaacctgagacctgtagtgcactcgaccgcc c.*660
. . . . . . g.23009
ctcaggtgttggtgaaacagagctgcccccaggctcgctgggcataggcttcctgattcc c.*720
. . . . . . g.23069
aagccttttctgggagcaaagccagggcctggtgcctgattttctgaagccaggagccct c.*780
. . . . . . g.23129
caggtggctggagctggaatagcagggaggactgggtgtacctaggcagtattttctcta c.*840
. . . . . . g.23189
cttctctcaagtcttatactcactcttgagccctccttggggcctgcttagaaagcagac c.*900
. . . . . . g.23249
aggagagagagtactgctacttgatgatgggaaatgctttcactttaccagctttgggaa c.*960
. . . . . . g.23309
gcagcagccccatgggatctaaaagtgtggagtctgcattaagaaacctacatgggtggc c.*1020
. . . . . . g.23369
atggggctctggggagcaagcccttacttgctcagcactggttatgtagcacaaatagct c.*1080
. . . . . . g.23429
cctaggaaaatgtttctggggcaaccctagaaccctggtcatattttgcagggtttctct c.*1140
. . . . . . g.23489
ggtggaatcagtttgccagcccttgcttgatgcttactggaaatctccaggttaatttct c.*1200
. . . . . . g.23549
atctctgatccctccccaacccactccatatttgggtcatggacagtaaaggcagttgga c.*1260
. . . . . . g.23609
ttctcatagacaactgggtaacttatatttctttgtaatcaagacttgagatatcgaagt c.*1320
. . . . . . g.23669
cagttattggtctccagagtgcagctctgggagccttttgaagaatcagcactcattaag c.*1380
. . . . . . g.23729
agctgagaagagagaagacctgattgggtggttgactagcagtcacagaacctgtcctcc c.*1440
. . . . . . g.23789
caggctgttcctgaggcctgaccacagtatttattttggcatgtctctggccttctgcag c.*1500
. . . . . . g.23849
aggcccaccctcatgggcattgtctctgtttcccagtggggtggacagtatatcagatgg c.*1560
. . . g.23879
tcagaacaaataaagttcagtgtcaaatga c.*1590
(downstream sequence)
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