(used for variant description)
(last modified November 4, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_173495.2 in the PTCHD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021300.1, covering PTCHD1 transcript NM_173495.2.
(upstream sequence)
g.5008
gctctagg c.-1
. . . . . . g.5068
ATGCTGCGGCAGGTTCTGCACAGGGGCTTGAGGACGTGTTTCTCCCGGCTCGGCCACTTC c.60
M L R Q V L H R G L R T C F S R L G H F p.20
. . . . . . g.5128
ATTGCCAGTCACCCTGTCTTCTTCGCCTCGGCGCCGGTGCTCATCTCCATCCTGCTCGGC c.120
I A S H P V F F A S A P V L I S I L L G p.40
. . . . . . g.5188
GCCAGCTTCAGCCGCTACCAGGTCGAGGAGAGCGTGGAGCACCTGCTGGCGCCCCAGCAC c.180
A S F S R Y Q V E E S V E H L L A P Q H p.60
. . . . . . g.5248
AGCCTGGCCAAGATCGAGCGCAACCTCGTTAACAGCCTCTTCCCGGTCAACCGCTCCAAG c.240
S L A K I E R N L V N S L F P V N R S K p.80
. . . . . . g.5308
CACCGTCTCTACTCGGACCTGCAGACCCCCGGGCGCTACGGCCGGGTCATCGTCACCTCC c.300
H R L Y S D L Q T P G R Y G R V I V T S p.100
. . . . . | 02 . g.49732
TTCCAGAAAGCCAACATGCTGGACCAGCATCACACCGACCTGATCTTAAAG | TTGCATGCT c.360
F Q K A N M L D Q H H T D L I L K | L H A p.120
. . . . . . g.49792
GCTGTCACCAAGATCCAGGTTCCAAGGCCTGGTTTTAATTACACGTTTGCCCATATATGT c.420
A V T K I Q V P R P G F N Y T F A H I C p.140
. . . . . . g.49852
ATCCTGAATAATGATAAGACTTGCATCGTGGATGACATAGTGCACGTCCTGGAAGAGCTA c.480
I L N N D K T C I V D D I V H V L E E L p.160
. . . . . . g.49912
AAGAATGCTCGGGCCACCAATCGGACCAATTTTGCTATCACATACCCAATCACTCACTTA c.540
K N A R A T N R T N F A I T Y P I T H L p.180
. . . . . . g.49972
AAGGACGGGAGGGCTGTGTACAATGGGCACCAGCTTGGGGGCGTCACTGTGCACAGCAAA c.600
K D G R A V Y N G H Q L G G V T V H S K p.200
. . . . . . g.50032
GACCGGGTGAAATCTGCAGAGGCCATCCAGCTCACCTACTACCTGCAGTCAATCAACAGT c.660
D R V K S A E A I Q L T Y Y L Q S I N S p.220
. . . . . . g.50092
CTCAATGACATGGTGGCTGAGAGGTGGGAGTCCAGCTTCTGCGACACTGTCAGACTGTTT c.720
L N D M V A E R W E S S F C D T V R L F p.240
. . . . . . g.50152
CAGAAATCCAACAGCAAAGTCAAAATGTACCCTTACACGTCCTCCTCACTGAGGGAAGAT c.780
Q K S N S K V K M Y P Y T S S S L R E D p.260
. . . . . . g.50212
TTCCAGAAGACCAGCCGCGTATCAGAACGTTACCTGGTCACCAGCCTGATTCTGGTGGTT c.840
F Q K T S R V S E R Y L V T S L I L V V p.280
. . . . . . g.50272
ACCATGGCCATCCTGTGTTGCTCTATGCAGGACTGCGTCCGCAGCAAACCCTGGCTAGGC c.900
T M A I L C C S M Q D C V R S K P W L G p.300
. . . . . . g.50332
CTGCTCGGATTGGTGACCATAAGCCTGGCCACTCTCACTGCAGCCGGGATCATCAATCTT c.960
L L G L V T I S L A T L T A A G I I N L p.320
. . . . . | 03 . g.62671
ACTGGTGGGAAATATAATTCCACCTTCCTGGGAGTCCCTTTCGTCATGCTAG | GTCATGGA c.1020
T G G K Y N S T F L G V P F V M L G | H G p.340
. . . . . . g.62731
TTATATGGGACTTTTGAAATGTTATCCTCCTGGAGGAAAACTAGAGAAGACCAACATGTT c.1080
L Y G T F E M L S S W R K T R E D Q H V p.360
. . . . . . g.62791
AAAGAGAGAACTGCAGCAGTCTATGCAGACTCCATGCTCTCCTTTTCTCTCACCACTGCC c.1140
K E R T A A V Y A D S M L S F S L T T A p.380
. . . . . . g.62851
ATGTACCTGGTCACCTTTGGCATAGGGGCCAGCCCTTTCACGAACATTGAGGCAGCCAGG c.1200
M Y L V T F G I G A S P F T N I E A A R p.400
. . . . . . g.62911
ATTTTCTGCTGCAATTCCTGTATTGCAATCTTCTTCAACTACCTCTATGTACTCTCGTTT c.1260
I F C C N S C I A I F F N Y L Y V L S F p.420
. . . . . . g.62971
TATGGTTCCAGCCTAGTGTTCACTGGCTACATAGAAAACAATTACCAGCATAGTATCTTC c.1320
Y G S S L V F T G Y I E N N Y Q H S I F p.440
. . . . . . g.63031
TGTAGAAAAGTCCCAAAGCCTGAGGCATTGCAGGAGAAGCCGGCATGGTACAGGTTTCTC c.1380
C R K V P K P E A L Q E K P A W Y R F L p.460
. . . . . . g.63091
CTGACGGCCAGATTCAGTGAGGACACAGCTGAAGGCGAGGAAGCGAACACTTACGAGAGT c.1440
L T A R F S E D T A E G E E A N T Y E S p.480
. . . . . . g.63151
CACCTATTGGTATGTTTCCTCAAACGCTATTACTGTGACTGGATAACCAACACCTATGTC c.1500
H L L V C F L K R Y Y C D W I T N T Y V p.500
. . . . . . g.63211
AAGCCTTTTGTAGTTCTCTTTTACCTTATTTATATTTCCTTTGCCTTAATGGGCTATCTG c.1560
K P F V V L F Y L I Y I S F A L M G Y L p.520
. . . . . . g.63271
CAGGTCAGTGAAGGGTCAGACCTTAGTAACATTGTAGCAACCGCGACACAAACCATTGAG c.1620
Q V S E G S D L S N I V A T A T Q T I E p.540
. . . . . . g.63331
TACACTACTGCCCAGCAAAAGTACTTCAGCAACTACAGTCCTGTGATTGGGTTTTACATA c.1680
Y T T A Q Q K Y F S N Y S P V I G F Y I p.560
. . . . . . g.63391
TATGAGTCTATAGAATACTGGAACACTAGTGTCCAAGAAGATGTTCTAGAATACACCAAG c.1740
Y E S I E Y W N T S V Q E D V L E Y T K p.580
. . . . . . g.63451
GGGTTTGTGCGGATATCCTGGTTTGAGAGCTATTTAAATTACCTTCGGAAACTCAATGTA c.1800
G F V R I S W F E S Y L N Y L R K L N V p.600
. . . . . . g.63511
TCCACTGGCTTGCCTAAGAAAAATTTCACAGACATGTTGAGGAATTCCTTTCTGAAAGCC c.1860
S T G L P K K N F T D M L R N S F L K A p.620
. . . . . . g.63571
CCTCAATTTTCACATTTTCAAGAGGACATCATCTTCTCTAAAAAATACAATGATGAGGTC c.1920
P Q F S H F Q E D I I F S K K Y N D E V p.640
. . . . . . g.63631
GATGTAGTGGCCTCCAGAATGTTTTTGGTGGCCAAGACCATGGAAACAAACAGAGAAGAA c.1980
D V V A S R M F L V A K T M E T N R E E p.660
. . . . . . g.63691
CTCTATGATCTCTTGGAAACCCTGAGGAGACTTTCTGTCACCTCCAAGGTGAAGTTCATC c.2040
L Y D L L E T L R R L S V T S K V K F I p.680
. . . . . . g.63751
GTCTTCAATCCGTCCTTTGTATACATGGATCGATATGCCTCCTCTCTGGGAGCCCCCCTG c.2100
V F N P S F V Y M D R Y A S S L G A P L p.700
. . . . . . g.63811
CACAACTCCTGCATCAGTGCTTTGTTCCTGCTCTTCTTCTCGGCATTCCTGGTGGCAGAT c.2160
H N S C I S A L F L L F F S A F L V A D p.720
. . . . . . g.63871
TCACTGATTAACGTCTGGATCACTCTCACAGTTGTGTCCGTGGAGTTTGGAGTGATAGGT c.2220
S L I N V W I T L T V V S V E F G V I G p.740
. . . . . . g.63931
TTCATGACATTATGGAAAGTAGAACTGGACTGCATTTCTGTGCTATGCTTAATTTATGGA c.2280
F M T L W K V E L D C I S V L C L I Y G p.760
. . . . . . g.63991
ATTAATTACACAATTGACAATTGTGCTCCAATGTTATCCACATTTGTTCTGGGCAAGGAT c.2340
I N Y T I D N C A P M L S T F V L G K D p.780
. . . . . . g.64051
TTCACAAGAACTAAATGGGTAAAAAATGCCCTGGAAGTGCATGGGGTAGCTATTTTACAG c.2400
F T R T K W V K N A L E V H G V A I L Q p.800
. . . . . . g.64111
AGTTACCTCTGCTATATTGTTGGTCTGATTCCTCTTGCAGCTGTGCCTTCAAATCTGACC c.2460
S Y L C Y I V G L I P L A A V P S N L T p.820
. . . . . . g.64171
TGTACACTGTTCAGGTGCTTGTTTTTAATAGCATTTGTCACCTTCTTTCACTGCTTTGCC c.2520
C T L F R C L F L I A F V T F F H C F A p.840
. . . . . . g.64231
ATTTTACCTGTGATACTGACTTTCCTGCCACCCTCTAAGAAAAAAAGGAAAGAGAAGAAA c.2580
I L P V I L T F L P P S K K K R K E K K p.860
. . . . . . g.64291
AATCCTGAGAACCGGGAGGAAATTGAGTGTGTAGAAATGGTAGATATCGATAGTACCCGT c.2640
N P E N R E E I E C V E M V D I D S T R p.880
. . g.64318
GTGGTTGACCAAATTACAACAGTGTGA c.2667
V V D Q I T T V X p.888
. . . . . . g.64378
taatgtctgcttggcatattttcaccttaggtcttatcaagaccaaagagattatgttaa c.*60
. . . . . . g.64438
tgaaacaattaaattcaaagttcttcccttttttaaagataggaaacaggcattgccaaa c.*120
. . . . . . g.64498
aaaaaaaaaaaaaaaaaaaggaaaggacagtggggagaaatgggcctggcatattttcag c.*180
. . . . . . g.64558
tctttaaaacaaaggagttgttatgagaattcacacacacatagacacacacacacacac c.*240
. . . . . . g.64618
acacacacacacacacacacacacaccctgggagacctatagtctcttaaactaagatca c.*300
. . . . . . g.64678
agtagaagaaagcttattaacaagcaggatcctgccttatccaaactgcagatgttgctg c.*360
. . . . . . g.64738
gcattgtgacaaaacccactgattgaaaggtcaactgccaaggcagaaacacctttaagc c.*420
. . . . . . g.64798
attgttcaaacaataaggcttccagaacttctgtagagcagtagctccagtcatggtctg c.*480
. . . . . . g.64858
tggtttgaggttttagctgtctcacctagctccctaacactgaaggagatacttgtgaaa c.*540
. . . . . . g.64918
gttctgaccagcaaaagcaagccagagccttggaaactgatatgtggtagagtggccatc c.*600
. . . . . . g.64978
actcatggactaaaattgattcaccgctaaatttacccaggtgaagcagtttcgttgtct c.*660
. . . . . . g.65038
agaatgaaattatcatattccgccattggtatgcctttaacatttgtatagtttggtttg c.*720
. . . . . . g.65098
cttaaaacaccttaaaaccaatgacagctccagcactgcagaattggtgtgattctactt c.*780
. . . . . . g.65158
tggaatagcttgtcacttgtcaccaaatgggtctgctttattagttacagctcttggcag c.*840
. . . . . . g.65218
gaggatccagggacccaaaaccacagggccaaacccaaatacctggcatgatggagcaaa c.*900
. . . . . . g.65278
agcaggtgtctacttggacccagatatagtgtctccattttaacaacaacaacaaaatag c.*960
. . . . . . g.65338
ccagctggtacagctgtttgcattggccctacatgcattttttgcatggatatccagaaa c.*1020
. . . . . . g.65398
catctgcccacacaaaactgcggggaaaaaaaatgaacactgaaatagttatttgctgtt c.*1080
. . . . . . g.65458
gcttccaacttgtagtgccagtctgcctttgctgtgaaacacacctgctcagagacagag c.*1140
. . . . . . g.65518
aggggaagaagatctttggtaagtctaagtcctgacgctgagaagctttgtaaaagtgca c.*1200
. . . . . . g.65578
gggagataaagggccaaaagggagatagatggaaaacactggaaaaagtattcactgata c.*1260
. . . . . . g.65638
caaatctatcaatgatggcagtccaattctcttgctaaagtggctgcacctcaccttgct c.*1320
. . . . . . g.65698
ggtcccccccacaccttttttgatgtccttctgcgtcatcatagcaaggcccttctgtaa c.*1380
. . . . . . g.65758
attaacaagcctagatatttatactcttgacttccagtatctacagaagaatggttcata c.*1440
. . . . . . g.65818
gatctaaacagaaatggtttagatctaaaaaggctgtatacgttgcccaggcccctgcat c.*1500
. . . . . . g.65878
ttctttaaatttataaaaatgaagctaaaacctggttacatttgaagcaaatatctacag c.*1560
. . . . . . g.65938
tatttttcccttttagagatgtagcttccttagacatctgtagtggtaagcatttcccaa c.*1620
. . . . . . g.65998
aagcatcttacctttctgaaccttagcagacatactgtgcagcttacctatcttctgcag c.*1680
. . . . . . g.66058
aggaggaaactgagacctaggagaataaagtgactcactcaggtcacaccactaaagggt c.*1740
. . . . . . g.66118
tttcatcatttcagcatacctaagacagggcagtccaattttcagtattctcataagatg c.*1800
. . . . . . g.66178
gctattactcctctcaaaatgcatttccaaagtaggaacataggacttcgttggccacag c.*1860
. . . . . . g.66238
ggcagacatttttttagtgtctggaattaaaatgtttgaggtttaggtttgccattgtct c.*1920
. . . . . . g.66298
ttccaaaaggccaaataattcagatgtaaccacaccaagtgcaaacctgtgctttctatt c.*1980
. . . . . . g.66358
tcacgtactgttgtccatacagttctaaatacatgtgcaggggattgtagctaatgcatt c.*2040
. . . . . . g.66418
acacagtcgttcagtcttctctgcagacacactaagtgatcataccaacgtgttatacac c.*2100
. . . . . . g.66478
tcaactagaagataataagctttaatctgagggcaagtacagtcctgacaaaagggcaag c.*2160
. . . . . . g.66538
tttgcataatagatcttcgatcaattctctctccaaggggcccgcaactaggctattatt c.*2220
. . . . . . g.66598
cataaaacacaactgaagaggggattggttttactgttaaatcatgtgttgctaaatcat c.*2280
. . . . . . g.66658
tttctgaacagtgtgttctaaatcagtcattgatttagtgtcagccacgtggagcacctc c.*2340
. . . . . . g.66718
ggcttaaagcagctccacaaaacctgacacaacacacacaccaattaaatggattttgtt c.*2400
. . . . . . g.66778
gagaatttaatcattcaatttggtcaaccagaatgacttcctgtggaactctgttttatg c.*2460
. . . . . . g.66838
acagataatagttttccaacttgattgagtctctgtataccctgggatattgtatttttt c.*2520
. . . . . . g.66898
aatgaagggcattttcaaacttgtcaacttctcttttcagcacttgaaatgaaggcttat c.*2580
. . . g.66934
ggaattctgactgtgaaatgaatttttctattggga c.*2616
(downstream sequence)
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