(used for variant description)
(last modified January 24, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001040716.1 in the PC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008319.1, covering PC transcript NM_001040716.1.
(upstream sequence)
. . . . g.5042
gtcagtggaggcagcagcggtagaggcggcggcgaggactgg c.-241
. . | 02 . . . . g.8987
cgacggcgaggag | ctgccttctagtctcacctgtggacactttgccaaaggagtcgggcc c.-181
. . . . . . g.9047
tgacggtggaagatgggaaatggccaaaagaataaaccatttcctcttacttaccgaatg c.-121
. . . . . . g.9107
aaaagcttgcttcatcttggcgttcaagactctctaatatgattccacctgttgggctct c.-61
. . . | 03 . . . g.10947
ttcttccatttgcctccgcag | atagtgtctgccttctggagagctgaccaaacactaagg c.-1
| 04 . . . . . . g.91277
| ATGCTGAAGTTCCGAACAGTCCATGGGGGCCTGAGGCTCCTGGGAATCCGCCGAACCTCC c.60
| M L K F R T V H G G L R L L G I R R T S p.20
. . . . . . g.91337
ACCGCCCCCGCTGCCTCCCCAAATGTCCGGCGCCTGGAGTATAAGCCCATCAAGAAAGTC c.120
T A P A A S P N V R R L E Y K P I K K V p.40
. | 05 . . . . . g.91549
ATGGTGGCCAACAGAG | GTGAGATTGCCATCCGTGTGTTCCGGGCCTGCACGGAGCTGGGC c.180
M V A N R G | E I A I R V F R A C T E L G p.60
. . . . . . g.91609
ATCCGCACCGTAGCCATCTACTCTGAGCAGGACACGGGCCAGATGCACCGGCAGAAAGCA c.240
I R T V A I Y S E Q D T G Q M H R Q K A p.80
. . . . . . g.91669
GATGAAGCCTATCTCATCGGCCGCGGCCTGGCCCCCGTGCAGGCCTACCTGCACATCCCA c.300
D E A Y L I G R G L A P V Q A Y L H I P p.100
. . | 06 . . . . g.91935
GACATCATCAAGGTGGCCAAG | GAGAACAACGTAGATGCAGTGCACCCTGGCTACGGGTTC c.360
D I I K V A K | E N N V D A V H P G Y G F p.120
. . . . . . g.91995
CTCTCTGAGCGAGCGGACTTCGCCCAGGCCTGCCAGGATGCAGGGGTCCGGTTTATTGGG c.420
L S E R A D F A Q A C Q D A G V R F I G p.140
. . . . . . g.92055
CCAAGCCCAGAAGTGGTCCGCAAGATGGGAGACAAGGTGGAGGCCCGGGCCATCGCCATT c.480
P S P E V V R K M G D K V E A R A I A I p.160
| 07. . . . . . g.92232
GCTGCGG | GTGTTCCCGTTGTCCCTGGCACAGATGCCCCCATCACGTCCCTGCATGAGGCC c.540
A A G | V P V V P G T D A P I T S L H E A p.180
. . . . . . g.92292
CACGAGTTCTCCAACACCTACGGCTTCCCCATCATCTTCAAGGCGGCCTATGGGGGTGGA c.600
H E F S N T Y G F P I I F K A A Y G G G p.200
. . . | 08 . . . g.92511
GGGCGTGGCATGAGGGTGGTGCACAGCTACGAG | GAGCTGGAGGAGAATTACACCCGGGCC c.660
G R G M R V V H S Y E | E L E E N Y T R A p.220
. . . . . . g.92571
TACTCAGAGGCTCTGGCCGCCTTTGGGAATGGGGCGCTGTTTGTGGAGAAGTTCATCGAG c.720
Y S E A L A A F G N G A L F V E K F I E p.240
. . . | 09 . . . g.92952
AAGCCACGGCACATCGAGGTGCAGATCTTGG | GGGACCAGTATGGGAACATCCTGCACCTG c.780
K P R H I E V Q I L G | D Q Y G N I L H L p.260
. . . . . . g.93012
TACGAGCGAGACTGCTCCATCCAGCGGCGGCACCAGAAGGTGGTCGAGATTGCCCCCGCC c.840
Y E R D C S I Q R R H Q K V V E I A P A p.280
. . . . . . g.93072
GCCCACCTGGACCCGCAGCTTCGGACTCGGCTCACCAGCGACTCTGTGAAACTCGCTAAA c.900
A H L D P Q L R T R L T S D S V K L A K p.300
| 10 . . . . . . g.94469
CAG | GTGGGCTACGAGAACGCAGGCACCGTGGAGTTCCTGGTGGACAGGCACGGCAAGCAC c.960
Q | V G Y E N A G T V E F L V D R H G K H p.320
. . . . . . g.94529
TACTTCATCGAGGTCAACTCCCGCCTGCAGGTGGAGCACACGGTCACAGAGGAGATCACC c.1020
Y F I E V N S R L Q V E H T V T E E I T p.340
| 11 . . . . . . g.97085
GA | CGTAGACCTGGTCCATGCTCAGATCCACGTGGCTGAGGGCAGGAGCCTACCCGACCTG c.1080
D | V D L V H A Q I H V A E G R S L P D L p.360
. . . . . . g.97145
GGCCTGCGGCAGGAGAACATCCGCATCAACGGGTGTGCCATCCAGTGCCGGGTCACCACC c.1140
G L R Q E N I R I N G C A I Q C R V T T p.380
. . . . | 12 . . g.99435
GAGGACCCCGCGCGCAGCTTCCAGCCGGACACCGGCCGCATTGAG | GTGTTCCGGAGCGGA c.1200
E D P A R S F Q P D T G R I E | V F R S G p.400
. . . . . . g.99495
GAGGGCATGGGCATCCGCCTGGATAATGCTTCCGCCTTCCAAGGAGCCGTCATCTCGCCC c.1260
E G M G I R L D N A S A F Q G A V I S P p.420
. . . . . . g.99555
CACTACGACTCCCTGCTGGTCAAAGTCATTGCCCACGGCAAAGACCACCCCACGGCCGCC c.1320
H Y D S L L V K V I A H G K D H P T A A p.440
. . . . | 13 . g.110005
ACCAAGATGAGCAGGGCCCTTGCGGAGTTCCGCGTCCGAGGTGTGAAG | ACCAACATCGCC c.1380
T K M S R A L A E F R V R G V K | T N I A p.460
. . . . . . g.110065
TTCCTGCAGAATGTGCTCAACAACCAGCAGTTCCTGGCAGGCACTGTGGACACCCAGTTC c.1440
F L Q N V L N N Q Q F L A G T V D T Q F p.480
. . . . . . g.110125
ATCGACGAGAACCCAGAGCTGTTCCAGCTGCGGCCTGCACAGAACCGGGCCCAAAAGCTG c.1500
I D E N P E L F Q L R P A Q N R A Q K L p.500
. | 14 . . . . . g.110587
TTGCACTACCTCG | GCCATGTCATGGTAAACGGTCCAACCACCCCGATTCCCGTCAAGGCC c.1560
L H Y L G | H V M V N G P T T P I P V K A p.520
. . . . | 15 . . g.110733
AGCCCCAGCCCCACGGACCCCGTTGTCCCTGCAGTGCCCATAG | GCCCGCCCCCGGCTGGT c.1620
S P S P T D P V V P A V P I G | P P P A G p.540
. . . . . . g.110793
TTCAGAGACATCCTGCTGCGAGAGGGGCCTGAGGGCTTTGCTCGAGCTGTGCGGAACCAC c.1680
F R D I L L R E G P E G F A R A V R N H p.560
. . . . . . g.110853
CCGGGGCTGCTGCTGATGGACACGACCTTCAGGGACGCCCACCAGTCACTGCTGGCCACT c.1740
P G L L L M D T T F R D A H Q S L L A T p.580
. . . . . . g.110913
CGTGTGCGCACCCACGATCTCAAAAAGATCGCCCCCTATGTTGCCCACAACTTCAGCAAG c.1800
R V R T H D L K K I A P Y V A H N F S K p.600
. . | 16 . . . . g.111465
CTCTTCAGCATGGAGAACTGGGGAG | GAGCCACGTTTGACGTCGCCATGCGCTTCCTGTAT c.1860
L F S M E N W G G | A T F D V A M R F L Y p.620
. . . . . . g.111525
GAGTGCCCCTGGCGGCGGCTGCAGGAGCTCCGGGAGCTCATCCCCAACATCCCTTTCCAG c.1920
E C P W R R L Q E L R E L I P N I P F Q p.640
. . . . . . g.111585
ATGCTGCTGCGGGGGGCCAATGCTGTGGGCTACACCAACTACCCAGACAACGTGGTCTTC c.1980
M L L R G A N A V G Y T N Y P D N V V F p.660
| 17 . . . . . . g.112154
AA | GTTCTGTGAAGTGGCCAAAGAGAATGGCATGGATGTCTTCCGTGTGTTTGACTCCCTC c.2040
K | F C E V A K E N G M D V F R V F D S L p.680
. . . . . . g.112214
AACTACTTGCCCAACATGCTGCTGGGCATGGAGGCGGCAGGAAGTGCCGGAGGCGTGGTG c.2100
N Y L P N M L L G M E A A G S A G G V V p.700
. . . . . . g.112274
GAGGCTGCCATCTCATACACGGGCGACGTGGCCGACCCCAGCCGCACCAAGTACTCACTG c.2160
E A A I S Y T G D V A D P S R T K Y S L p.720
. . . . . . g.112334
CAGTACTACATGGGCTTGGCCGAAGAGCTGGTGCGAGCTGGCACCCACATCCTGTGCATC c.2220
Q Y Y M G L A E E L V R A G T H I L C I p.740
| 18 . . . . . . g.112510
AAG | GACATGGCCGGGCTGCTGAAGCCCACGGCCTGCACCATGCTGGTCAGCTCCCTCCGG c.2280
K | D M A G L L K P T A C T M L V S S L R p.760
. . . . . . g.112570
GACCGCTTCCCCGACCTCCCACTGCACATCCACACCCACGACACGTCAGGGGCAGGCGTG c.2340
D R F P D L P L H I H T H D T S G A G V p.780
. . . . . . g.112630
GCAGCCATGCTGGCCTGTGCCCAGGCTGGAGCTGATGTGGTGGATGTGGCAGCTGATTCC c.2400
A A M L A C A Q A G A D V V D V A A D S p.800
. . . . . . g.112690
ATGTCTGGGATGACTTCACAGCCCAGCATGGGGGCCCTGGTGGCCTGTACCAGAGGGACT c.2460
M S G M T S Q P S M G A L V A C T R G T p.820
. | 19 . . . . . g.112959
CCCCTGGACACAG | AGGTGCCCATGGAGCGCGTGTTTGACTACAGTGAGTACTGGGAGGGG c.2520
P L D T E | V P M E R V F D Y S E Y W E G p.840
. . . . . . g.113019
GCTCGGGGACTGTACGCGGCCTTCGACTGCACGGCCACCATGAAGTCTGGCAACTCGGAC c.2580
A R G L Y A A F D C T A T M K S G N S D p.860
. . . . . . g.113079
GTGTATGAAAATGAGATCCCAGGGGGCCAGTACACCAACCTGCACTTCCAGGCCCACAGC c.2640
V Y E N E I P G G Q Y T N L H F Q A H S p.880
. . . . . . g.113139
ATGGGGCTTGGCTCCAAGTTCAAGGAGGTCAAGAAGGCCTATGTGGAGGCCAACCAGATG c.2700
M G L G S K F K E V K K A Y V E A N Q M p.900
. | 20 . . . . g.113302
CTGGGCGATCTCATCAAG | GTGACGCCCTCCTCCAAGATCGTGGGGGACCTGGCCCAGTTT c.2760
L G D L I K | V T P S S K I V G D L A Q F p.920
. . . . . . g.113362
ATGGTGCAGAATGGATTGAGCCGGGCAGAGGCCGAAGCTCAGGCGGAAGAGCTGTCCTTT c.2820
M V Q N G L S R A E A E A Q A E E L S F p.940
. . . . . . g.113422
CCCCGCTCCGTGGTGGAGTTCCTGCAGGGCTACATCGGTGTCCCCCATGGGGGGTTCCCC c.2880
P R S V V E F L Q G Y I G V P H G G F P p.960
. | 21 . . . . g.113559
GAACCCTTTCGCTCTAAG | GTACTGAAGGACCTGCCAAGGGTGGAGGGGCGGCCTGGAGCC c.2940
E P F R S K | V L K D L P R V E G R P G A p.980
. . . . . . g.113619
TCCCTCCCTCCCCTGGATCTGCAGGCACTGGAGAAGGAGCTGGTAGACCGGCATGGGGAG c.3000
S L P P L D L Q A L E K E L V D R H G E p.1000
. . . . . . g.113679
GAGGTGACGCCGGAAGATGTGCTCTCAGCAGCTATGTACCCCGATGTGTTTGCCCACTTC c.3060
E V T P E D V L S A A M Y P D V F A H F p.1020
. . . . . . g.113739
AAGGACTTCACTGCCACCTTTGGCCCCCTGGATAGCCTGAATACTCGCCTCTTCCTGCAG c.3120
K D F T A T F G P L D S L N T R L F L Q p.1040
. . | 22. . . . g.114039
GGACCCAAGATCGCAGAGGAGTTTGAG | GTGGAGCTGGAGCGGGGCAAGACGCTGCACATC c.3180
G P K I A E E F E | V E L E R G K T L H I p.1060
. . . . . . g.114099
AAAGCCCTGGCCGTGAGCGACCTGAACCGGGCCGGCCAGAGGCAGGTCTTCTTTGAGCTC c.3240
K A L A V S D L N R A G Q R Q V F F E L p.1080
. . . . | 23 . g.114241
AATGGGCAGCTGCGGTCCATCTTGGTCAAGGACACCCAGGCCATGAAG | GAGATGCACTTC c.3300
N G Q L R S I L V K D T Q A M K | E M H F p.1100
. . . . . . g.114301
CACCCCAAGGCCCTAAAGGACGTGAAGGGCCAGATCGGGGCGCCCATGCCTGGGAAGGTG c.3360
H P K A L K D V K G Q I G A P M P G K V p.1120
. . . . . . g.114361
ATAGACATCAAAGTGGTGGCAGGGGCCAAGGTGGCCAAGGGCCAGCCCCTGTGTGTGCTC c.3420
I D I K V V A G A K V A K G Q P L C V L p.1140
. . . . . . g.114421
AGTGCCATGAAGATGGAGACTGTGGTGACCTCACCCATGGAGGGTACTGTCCGCAAGGTT c.3480
S A M K M E T V V T S P M E G T V R K V p.1160
. . . . . g.114478
CATGTGACCAAGGACATGACACTGGAAGGTGACGACCTCATCCTGGAGATCGAGTGA c.3537
H V T K D M T L E G D D L I L E I E X p.1178
. . . . . . g.114538
tcttgccccagaccggcagcctggccatccccaagccttcaacagaagctgtgctgccac c.*60
. . . . . . g.114598
ggcaggcccaggccagccagtgcccgaggccaggaaggccgggccgtggaggtcctgtcc c.*120
. . . . . . g.114658
acagctggacaggagagacaccgcctgcggtggttcattcctttcagccatcgtcctttc c.*180
. . . . . . g.114718
ctccggcggacagctgcttacatgttcatctcttgccaaataagggtcccctcctcactg c.*240
. . . . . . g.114778
gagactacaagtggtgggtcaggtggtcctaggacccaggggaggtttaggggtcctatc c.*300
. . . . . . g.114838
tcctgggggaaggggagatctaagatgtcccaggtcctgggaagtttactcaataaagct c.*360
. g.114851
ggctttcccctgc c.*373
(downstream sequence)
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