(used for variant description)
(last modified February 13, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_015545.3 in the PTCD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering PTCD1 transcript NM_015545.3.
(upstream sequence)
. . . . . g.5054
ctcgccagaaacctgaaaccagccgcgtgagtcggcgacgcggattgcgcctgc c.-121
. . . . . . g.5114
gcgcttggggagagggggacccgaggaagagactggttcgccgcggggaccgggcagggc c.-61
. . . . | 02 . . g.8597
tccccgtcggagtgcactgcgccggacacttcaa | gccctggagggacaggaaagccagaa c.-1
. . . . . . g.8657
ATGGACTTCGTGAGACTCGCTCGACTGTTCGCCAGGGCCCGCCCCATGGGACTGTTCATC c.60
M D F V R L A R L F A R A R P M G L F I p.20
. . . . . . g.8717
CTGCAACACCTGGACCCCTGTAGAGCCAGGTGGGCAGGAGGCAGGGAGGGGCTGATGCGG c.120
L Q H L D P C R A R W A G G R E G L M R p.40
. . . . . . g.8777
CCAATGTGGGCGCCCTTCAGCAGCTCCTCCTCTCAGCTGCCCCTCGGCCAGGAGCGTCAG c.180
P M W A P F S S S S S Q L P L G Q E R Q p.60
. . . . . . g.8837
GAAAACACGGGCAGCCTGGGCTCTGACCCGAGCCACTCCAACTCCACGGCCACGCAGGAA c.240
E N T G S L G S D P S H S N S T A T Q E p.80
. . . . . . g.8897
GAAGACGAGGAGGAGGAGGAGAGTTTTGGGACCCTCTCTGACAAATACTCCTCCCGGAGA c.300
E D E E E E E S F G T L S D K Y S S R R p.100
. . . . . . g.8957
CTATTCCGCAAATCCGCAGCCCAGTTCCATAACCTGCGGTTTGGGGAACGGAGAGATGAG c.360
L F R K S A A Q F H N L R F G E R R D E p.120
. . . . . . g.9017
CAAATGGAACCGGAGCCCAAATTATGGCGAGGCCGGAGAAACACCCCGTACTGGTACTTC c.420
Q M E P E P K L W R G R R N T P Y W Y F p.140
. . . | 03 . . . g.10448
TTGCAGTGCAAACACCTGATCAAGGAAGGGAAG | CTGGTTGAAGCCCTGGACCTGTTTGAG c.480
L Q C K H L I K E G K | L V E A L D L F E p.160
. . . . . . g.10508
AGGCAGATGCTGAAGGAGGAGCGATTGCAGCCCATGGAGAGCAACTACACGGTGCTGATT c.540
R Q M L K E E R L Q P M E S N Y T V L I p.180
. . . . . | 04 . g.14039
GGGGGCTGCGGGCGGGTTGGCTACCTGAAGAAGGCCTTCAACCTCTACAACCAG | ATGAAA c.600
G G C G R V G Y L K K A F N L Y N Q | M K p.200
. . . . . . g.14099
AAGCGGGACCTGGAGCCCTCGGACGCCACCTACACGGCCCTGTTCAACGTCTGTGCCGAG c.660
K R D L E P S D A T Y T A L F N V C A E p.220
. . . . . . g.14159
TCCCCCTGGAAGGACTCAGCTCTACAGAGCGCCCTGAAGCTCCGGCAGCAGCTGCAGGCC c.720
S P W K D S A L Q S A L K L R Q Q L Q A p.240
. . . . . . g.14219
AAAAACTTCGAGCTCAACTTGAAAACATACCACGCGCTGCTGAAGATGGCTGCCAAGTGC c.780
K N F E L N L K T Y H A L L K M A A K C p.260
. . . | 05 . . . g.14662
GCAGACCTTAGGATGTGCCTCGATGTGTTCAAG | GAAATCATCCACAAAGGGCACGTGGTC c.840
A D L R M C L D V F K | E I I H K G H V V p.280
. . . . . . g.14722
ACAGAGGAGACCTTCAGTTTCCTGCTCATGGGCTGCATCCAAGACAAGAAGACAGGCTTC c.900
T E E T F S F L L M G C I Q D K K T G F p.300
. | 06 . . . . . g.18268
CGGTACGCCCTCCAG | GTGTGGCGGCTGATGCTGAGTCTAGGGCTACAGCCGAGCCGGGAC c.960
R Y A L Q | V W R L M L S L G L Q P S R D p.320
. . . . . . g.18328
AGCTACAACCTGCTGTTGGTGGCAGCTCGGGACTGTGGCCTAGGGGACCCCCAGGTGGCC c.1020
S Y N L L L V A A R D C G L G D P Q V A p.340
. . . . . . g.18388
TCAGAGCTGCTTCTGAAGCCCAGGGAGGAGGCGACTGTGCTTCAGCCCCCAGTGAGCAGG c.1080
S E L L L K P R E E A T V L Q P P V S R p.360
. . . . . . g.18448
CAGCGGCCAAGGAGGACAGCCCAGGCCAAGGCAGGCAACCTCATGTCAGCCATGCTGCAT c.1140
Q R P R R T A Q A K A G N L M S A M L H p.380
. . . . . . g.18508
GTGGAGGCCCTGGAGAGGCAGCTGTTTCTGGAACCTTCTCAGGCACTTGGGCCTCCAGAG c.1200
V E A L E R Q L F L E P S Q A L G P P E p.400
. . . . . . g.18568
CCTCCGGAAGCCAGAGTGCCCGGCAAGGCCCAACCAGAGGTGGATACTAAGGCAGAGCCC c.1260
P P E A R V P G K A Q P E V D T K A E P p.420
. . . . . . g.18628
AGCCACACAGCAGCCCTCACCGCAGTGGCCCTGAAGCCACCTCCCGTGGAGCTGGAAGTC c.1320
S H T A A L T A V A L K P P P V E L E V p.440
. . . . . . g.18688
AACCTCCTGACCCCCGGGGCCGTTCCCCCTACAGTGGTCTCCTTTGGAACGGTGACCACC c.1380
N L L T P G A V P P T V V S F G T V T T p.460
. . . . . . g.18748
CCAGCTGACCGGCTGGCCTTGATAGGGGGCCTGGAGGGCTTCCTGAGCAAGATGGCAGAG c.1440
P A D R L A L I G G L E G F L S K M A E p.480
. . . . . . g.18808
CACAGGCAGCAGCCCGACATCAGGACCCTCACGCTACTGGCCGAGGTGGTGGAGTCCGGG c.1500
H R Q Q P D I R T L T L L A E V V E S G p.500
. . . . . . g.18868
AGTCCTGCAGAGTCCTTGCTGCTGGCCCTCCTGGATGAGCACCAGGTAGAGGCCGACCTG c.1560
S P A E S L L L A L L D E H Q V E A D L p.520
. . . . . . g.18928
ACATTCTTTAACACGCTGGTGAGAAAGAAGAGCAAGCTGGGAGACCTGGAGGGGGCCAAG c.1620
T F F N T L V R K K S K L G D L E G A K p.540
. . . . . . g.18988
GCGCTGTTGCCGGTCCTGGCAAAGAGGGGCCTCGTCCCCAACCTGCAGACATTCTGCAAC c.1680
A L L P V L A K R G L V P N L Q T F C N p.560
. . . . . | 07. g.19885
CTGGCCATCGGGTGCCACAGGCCGAAGGACGGTCTACAGCTTCTCACAGACATGAAG | AAG c.1740
L A I G C H R P K D G L Q L L T D M K | K p.580
. . . . . . g.19945
TCCCAGGTGACCCCCAACACTCACATCTACAGTGCCCTCATCAACGCGGCCATCAGGAAG c.1800
S Q V T P N T H I Y S A L I N A A I R K p.600
. . . . . . g.20005
CTGAACTACACCTATCTCATCAGCATCTTGAAGGACATGAAGCAGAACAGGGTCCCGGTG c.1860
L N Y T Y L I S I L K D M K Q N R V P V p.620
. . . . . . g.20065
AACGAAGTGGTCATCCGCCAGCTGGAGTTTGCAGCCCAGTACCCTCCCACCTTTGACCGG c.1920
N E V V I R Q L E F A A Q Y P P T F D R p.640
| 08 . . . . . . g.23750
| TACCAAGGGAAGAACACCTACCTGGAGAAGATTGACGGCTTCCGAGCCTATTACAAGCAG c.1980
| Y Q G K N T Y L E K I D G F R A Y Y K Q p.660
. . . . . . g.23810
TGGCTGACAGTGATGCCCGCAGAGGAAACCCCGCACCCCTGGCAGAAGTTCCGGACCAAG c.2040
W L T V M P A E E T P H P W Q K F R T K p.680
. . . . . . g.23870
CCCCAGGGGGACCAGGACACCGGCAAGGAGGCTGATGACGGATGTGCCCTTGGGGGCAGG c.2100
P Q G D Q D T G K E A D D G C A L G G R p.700
g.23873
TGA c.2103
X p.700
. . . . . . g.23933
tgggagcacagctggaacaatgtgctcggcccccagtgctctgtgggagccccaggacaa c.*60
. . . . . . g.23993
gtgagctggtgtcacctcctgcctgggggaagagccaggccctgaggaacagccgcagcg c.*120
. . . . . . g.24053
tgtcacaggtgttggtgaggacacacactaggcccaaggtgcctgtgctcccagcaggtc c.*180
. . . . . . g.24113
caagtgcagctccagccacctttgcgtgtcaccttcacgggacttccagctccagctacc c.*240
. . . . . . g.24173
tttgtgtgtcacctcacacaccacaagggggctggggcatctggtccctggggcctgggc c.*300
. . . . . . g.24233
cgccccgccgggttccataggccgatgctctgaaagaagagacgtggggctcgagagatt c.*360
. . . . . . g.24293
taaagattttatttttacaaatcacagctgatagacagcgaagccttccccatagagacc c.*420
. . . . . . g.24353
gtgctccaactcgggcctggggcactgctcgctgctcccaggaagggggtggcgtgacag c.*480
. . . . . . g.24413
gcaggaacctgcgaagtccagagtccagggtggagcgcgccagcctcagccagagcagcc c.*540
. . . . . . g.24473
acgacagccacagtgtgtgcactcgatgatgcggccctgcaacggaggaggacagtgaga c.*600
. . . . . . g.24533
cgatgccactgcgccacgctcgcccctgcacactcacatatgtggcaaccctcccacgaa c.*660
. . . . . . g.24593
ggacctgccaccatgccatatagggacacacctcagaaacccttccttgacagctctgga c.*720
. . . . . . g.24653
cagggaaaatttggctccctcatgaaggtagaaccagctgctgttgacaccgaggttaca c.*780
. . . . . . g.24713
tctgtatgtctatttataatatgttctgcaaatccaacacacgtttgccaatcaagaaaa c.*840
. . . . . . g.24773
agaaatcggtgtgaatgagtctcgttattctgctaagtgagcatgacagaccctgcgatg c.*900
. . . . . . g.24833
agcagacgtggctctgctactgtttggggacttcaggggggcctctgggctggtacactc c.*960
. . . . . . g.24893
tggtgggggaagagggcaggagactatgcacttgagtcacacccttctggcccagagccc c.*1020
. . . . . . g.24953
cccagaaagaagggtcttgtcccccaggcctggtgcggcccaacacttggccagccagaa c.*1080
. . . . . . g.25013
agccctagaacagtggcttgtgtttattttactttttcaagttctttttttggaagaaca c.*1140
. . . . . . g.25073
agaccatagtttaagtaaacaggatcctctggtgaaacccaggtaagtctacagcgggct c.*1200
. . . . . . g.25133
gttttggccacagggctgaagcagcaccccagcccaccagcccctgacctggactccttg c.*1260
. . . . . . g.25193
tggaatctgggcactcagaggaagggggcttctgccactctgccacctgtccctgcctcc c.*1320
. . . . . . g.25253
atcagaaaaccaacaccccagtcttccgtcggggaggcggcccttgctcgcccccactgc c.*1380
. . . . . . g.25313
tcagtacccaagtcctcagcatccagccacagctctccattgtcagtctcactgcagcat c.*1440
. . . . . . g.25373
aaaggggactcatgtgaagaggcccctgtgtggagctggggaaaagaaggccaggctggc c.*1500
. . . . . . g.25433
agatgggcggtggggccaacaactgtgctgaggggctgcactgagcggccactgctgtga c.*1560
. . . . . . g.25493
ctctgcctcgggccacagctgcctttcagaggggcttggaaccggatggagctcagctcc c.*1620
. . . . . . g.25553
tgtccctcagcaccactcctgaggcgcctggcctaggagtggtacttggaacagaaagtt c.*1680
. . . . . . g.25613
ctgaaagaagaaacacagtgggctgggcgcagtagctcatgcctgtaatcccggcacttt c.*1740
. . . . . . g.25673
gggaggctgaggcgggtggatcacctgaggtcgggagttcgagaccagcctgagcaacat c.*1800
. . . . . . g.25733
tgagaaaccccgtctctactaaaaatacaaaattagccaggcgtggtggtgcatgcctgt c.*1860
. . . . . . g.25793
agtcccagctactcaggaggatgaggcaggagaaccgcttgaacccgggaggtggaggtt c.*1920
. . . . . . g.25853
gcagtgagccaagatggcatcactgcactccagcctgggcgacaaagcaagactccgtct c.*1980
. . . . . . g.25913
tgggggggcgggaaagatagtgatggtaatgttaaagtatcactgtgaggactgaaaggg c.*2040
. . . . . . g.25973
acaggaactcactggttgtccttccctgatgtcaccctgccaccaccttgggattagggc c.*2100
. . . . . . g.26033
tccccaccaccatttcctaagtgaggaaaggggttcagtaatttgcccaaaagtggagtt c.*2160
. . . . . . g.26093
gagattgaccccagacctaacaaacacacagccacacgctgcctcacatggattcctgaa c.*2220
. . . . . . g.26153
tacagggacccactcccacgagggagagccagcaggacatccagggacaaaacgacattc c.*2280
. . . . . . g.26213
cagcccaaccaaataacataagatcccttgcagtcgactaaggcagaattttgagctgaa c.*2340
. . . . . . g.26273
aacaacaccaagcttgagtgtcagacattaccacttccagcttgcttttgggcacgcggc c.*2400
. . . . . . g.26333
agatgcagttcgtcccgaagttggtgtcccgtgtctgaatgcaccgcaggcagcacaagt c.*2460
. . . . . . g.26393
tctcatatccttgctttttccattttgcaatcaggtttttgtctgcatagccttctttaa c.*2520
. . . . . . g.26453
tacaatattcatagagttctgtcaaaaagatggggaaagagcatcaggccatggtctaaa c.*2580
. . . . . . g.26513
aaccttccccacccttgatcaaaaaaagcattcaggccgggtgcagtggctcacacctgt c.*2640
. . . . . . g.26573
aatcccagcactttgggaggccgaggcaggcggatcacctgaggtcaggagttcaggacc c.*2700
. . . . . . g.26633
agcccggccaacatggtaaaaccccgtctctactaaaaatacaaaaattactcgggcgtg c.*2760
. . . . . . g.26693
gtagcagctgtaatcccagctacttaggaggctgaggcaggagaatcacttgaacccagg c.*2820
. . . . . . g.26753
aggcggaggttgtagtgacctgaggtcgtgccactggactccagcctgggtgacagcgaa c.*2880
. . . . . . g.26813
actccatctcaaaaaaaaaaaggcattcagtattgcaacgggacagtccttggaggagga c.*2940
. . . . . . g.26873
acaaaaaaaaaaagtacttaggccaggcaaggtgcctcacacctgtaatcccagcacttt c.*3000
. . . . . . g.26933
tggaagccaacgccagaggatcatttgagttaagaaaccagcctgggccaagggcccatc c.*3060
. . . . . . g.26993
tccacaaaaaatttaaaaattagctgggtgtggtggtgcacacctgtagtcacagctact c.*3120
. . . . . . g.27053
caggaggttgaggtgagaggatcccttgagcccagaaggttgaggctgcagtgagccatc c.*3180
. . . . g.27101
attgcaccactgcactccagcctgtggaacagagcaagaccctgtttc c.*3228
(downstream sequence)
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