(used for variant description)
(last modified May 8, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_001130698.1 in the TRPC3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering TRPC3 transcript NM_001130698.1.
(upstream sequence)
. g.5014
gggaagactgcact c.-61
. . . . . . g.5074
gccgcgaaggcggaggaggccggcagccggcacccccacactcggaccgcagccggcgcg c.-1
. . . . . . g.5134
ATGTCCACCAAGGTCAGGAAGTGCAAAGAACAAGCAAGGGTGACCTTCCCGGCGCCGGAG c.60
M S T K V R K C K E Q A R V T F P A P E p.20
. . . . . . g.5194
GAGGAGGAAGACGAGGGCGAGGACGAGGGCGCGGAGCCGCAGCGCCGCCGCCGGGGCTGG c.120
E E E D E G E D E G A E P Q R R R R G W p.40
. . . . . . g.5254
AGGGGCGTCAACGGGGGGCTGGAGCCGCGCTCGGCGCCCTCGCAGCGGGAGCCGCACGGC c.180
R G V N G G L E P R S A P S Q R E P H G p.60
. . . | 02 . . . g.23737
TACTGCCCGCCGCCCTTCTCCCACGGGCCGGACCT | GTCCATGGAGGGAAGCCCATCCCTG c.240
Y C P P P F S H G P D L | S M E G S P S L p.80
. . . . . . g.23797
AGACGCATGACAGTGATGCGGGAGAAGGGCCGGCGCCAGGCTGTCAGGGGCCCGGCCTTC c.300
R R M T V M R E K G R R Q A V R G P A F p.100
. . . . . . g.23857
ATGTTCAATGACCGCGGCACCAGCCTCACCGCCGAGGAGGAGCGCTTCCTCGACGCCGCC c.360
M F N D R G T S L T A E E E R F L D A A p.120
. . . . . . g.23917
GAGTACGGCAACATCCCAGTGGTGCGCAAGATGCTGGAGGAGTCCAAGACGCTGAACGTC c.420
E Y G N I P V V R K M L E E S K T L N V p.140
. . . . . . g.23977
AACTGCGTGGACTACATGGGCCAGAACGCGCTGCAGCTGGCTGTGGGCAACGAGCACCTG c.480
N C V D Y M G Q N A L Q L A V G N E H L p.160
. . . . . . g.24037
GAGGTGACCGAGCTGCTGCTCAAGAAGGAGAACCTGGCGCGCATTGGCGACGCCCTGCTG c.540
E V T E L L L K K E N L A R I G D A L L p.180
. . . . . . g.24097
CTCGCCATCAGCAAGGGCTACGTGCGCATCGTAGAGGCCATCCTCAACCACCCTGGCTTC c.600
L A I S K G Y V R I V E A I L N H P G F p.200
. . . . . . g.24157
GCGGCCAGCAAGCGTCTCACTCTGAGCCCCTGTGAGCAGGAGCTGCAGGACGACGACTTC c.660
A A S K R L T L S P C E Q E L Q D D D F p.220
. . . . . . g.24217
TACGCTTACGACGAGGACGGCACGCGCTTCTCGCCGGACATCACCCCCATCATCCTGGCG c.720
Y A Y D E D G T R F S P D I T P I I L A p.240
. . . . . . g.24277
GCGCACTGCCAGAAATACGAAGTGGTGCACATGCTGCTGATGAAGGGTGCCAGGATCGAG c.780
A H C Q K Y E V V H M L L M K G A R I E p.260
. . . . . . g.24337
CGGCCGCACGACTATTTCTGCAAGTGCGGGGACTGCATGGAGAAGCAGAGGCACGACTCC c.840
R P H D Y F C K C G D C M E K Q R H D S p.280
. . . . . . g.24397
TTCAGCCACTCACGCTCGAGGATCAATGCCTACAAGGGGCTGGCCAGCCCGGCTTACCTC c.900
F S H S R S R I N A Y K G L A S P A Y L p.300
. . . . . . g.24457
TCATTGTCCAGCGAGGACCCGGTGCTTACGGCCCTAGAGCTCAGCAACGAGCTGGCCAAG c.960
S L S S E D P V L T A L E L S N E L A K p.320
. . | 03. . . . g.31581
CTGGCCAACATAGAGAAGGAGTTCAAG | AATGACTATCGGAAGCTCTCCATGCAATGCAAA c.1020
L A N I E K E F K | N D Y R K L S M Q C K p.340
. . . . . . g.31641
GACTTTGTAGTGGGTGTGCTGGATCTCTGCCGAGACTCAGAAGAGGTAGAAGCCATTCTG c.1080
D F V V G V L D L C R D S E E V E A I L p.360
. . . . . . g.31701
AATGGAGATCTGGAATCAGCAGAGCCTCTGGAGGTACACAGGCACAAAGCTTCATTAAGT c.1140
N G D L E S A E P L E V H R H K A S L S p.380
. . . | 04 . . . g.41834
CGTGTCAAACTTGCCATTAAGTATGAAGTCAAAAAG | TTTGTGGCTCATCCCAACTGCCAG c.1200
R V K L A I K Y E V K K | F V A H P N C Q p.400
. . . . . . g.41894
CAGCAGCTCTTGACGATCTGGTATGAGAACCTCTCAGGCCTAAGGGAGCAGACCATAGCT c.1260
Q Q L L T I W Y E N L S G L R E Q T I A p.420
. . . . . . g.41954
ATCAAGTGTCTCGTTGTGCTGGTCGTGGCCCTGGGCCTTCCATTCCTGGCCATTGGCTAC c.1320
I K C L V V L V V A L G L P F L A I G Y p.440
. . | 05 . . . . g.44700
TGGATCGCACCTTGCAGCAGG | CTGGGGAAAATTCTGCGAAGCCCTTTTATGAAGTTTGTA c.1380
W I A P C S R | L G K I L R S P F M K F V p.460
. . . . . . g.44760
GCACATGCAGCTTCTTTCATCATCTTCCTGGGTCTGCTTGTGTTCAATGCCTCAGACAGG c.1440
A H A A S F I I F L G L L V F N A S D R p.480
. . . . . . g.44820
TTCGAAGGCATCACCACGCTGCCCAATATCACAGTTACTGACTATCCCAAACAGATCTTC c.1500
F E G I T T L P N I T V T D Y P K Q I F p.500
. . . . . | 06 g.46369
AGGGTGAAAACCACCCAGTTTACATGGACTGAAATGCTAATTATGGTCTGGGTTCTTG | GA c.1560
R V K T T Q F T W T E M L I M V W V L G | p.520
. . . . . . g.46429
ATGATGTGGTCTGAATGTAAAGAGCTCTGGCTGGAAGGACCTAGGGAATACATTTTGCAG c.1620
M M W S E C K E L W L E G P R E Y I L Q p.540
. . . . . . g.46489
TTGTGGAATGTGCTTGACTTTGGGATGCTGTCCATCTTCATTGCTGCTTTCACAGCCAGA c.1680
L W N V L D F G M L S I F I A A F T A R p.560
. . . . . . g.46549
TTCCTAGCTTTCCTTCAGGCAACGAAGGCACAACAGTATGTGGACAGTTACGTCCAAGAG c.1740
F L A F L Q A T K A Q Q Y V D S Y V Q E p.580
. . . . . | 07 . g.49195
AGTGACCTCAGTGAAGTGACACTCCCACCAGAGATACAGTATTTCACTTATG | CTAGAGAT c.1800
S D L S E V T L P P E I Q Y F T Y A | R D p.600
. . . . . . g.49255
AAATGGCTCCCTTCTGACCCTCAGATTATATCTGAAGGCCTTTATGCCATAGCTGTTGTG c.1860
K W L P S D P Q I I S E G L Y A I A V V p.620
. . . . . . g.49315
CTCAGCTTCTCTCGGATTGCGTACATCCTCCCTGCAAATGAGAGCTTTGGCCCCCTGCAG c.1920
L S F S R I A Y I L P A N E S F G P L Q p.640
. . . . . . g.49375
ATCTCTCTTGGAAGGACTGTAAAGGACATATTCAAGTTCATGGTCCTCTTTATTATGGTG c.1980
I S L G R T V K D I F K F M V L F I M V p.660
. . . . . . g.49435
TTTTTTGCCTTTATGATTGGCATGTTCATACTTTATTCTTACTACCTTGGGGCTAAAGTT c.2040
F F A F M I G M F I L Y S Y Y L G A K V p.680
. | 08. . . . . g.52280
AATGCTGCTTTTACCAC | TGTAGAAGAAAGTTTCAAGACTTTATTTTGGTCAATATTTGGG c.2100
N A A F T T | V E E S F K T L F W S I F G p.700
. . . . . . g.52340
TTGTCTGAAGTGACTTCCGTTGTGCTCAAATATGATCACAAATTCATAGAAAATATTGGA c.2160
L S E V T S V V L K Y D H K F I E N I G p.720
. . . . . . g.52400
TACGTTCTTTATGGAATATACAATGTAACTATGGTGGTCGTTTTACTCAACATGCTAATT c.2220
Y V L Y G I Y N V T M V V V L L N M L I p.740
. . . | 09 . . . g.53720
GCTATGATTAATAGCTCATATCAAGAAATTGAG | GATGACAGTGATGTAGAATGGAAGTTT c.2280
A M I N S S Y Q E I E | D D S D V E W K F p.760
. . . . . . g.53780
GCTCGTTCAAAACTTTGGTTATCCTATTTTGATGATGGAAAAACATTACCTCCACCTTTC c.2340
A R S K L W L S Y F D D G K T L P P P F p.780
. . . . . . g.53840
AGTCTAGTTCCTAGTCCAAAATCATTTGTTTATTTCATCATGCGAATTGTTAACTTTCCC c.2400
S L V P S P K S F V Y F I M R I V N F P p.800
. . . . . . g.53900
AAATGCAGAAGGAGAAGGCTTCAGAAGGATATAGAAATGGGAATGGGTAACTCAAAGTCC c.2460
K C R R R R L Q K D I E M G M G N S K S p.820
| 10 . . . . . . g.57116
AGG | TTAAACCTCTTCACTCAGTCTAACTCAAGAGTTTTTGAATCACACAGTTTTAACAGC c.2520
R | L N L F T Q S N S R V F E S H S F N S p.840
. . | 11. . . . g.74358
ATTCTCAATCAGCCAACACGTTATCAG | CAGATAATGAAAAGACTTATAAAGCGGTATGTT c.2580
I L N Q P T R Y Q | Q I M K R L I K R Y V p.860
. . . . | 12 . . g.76893
TTGAAAGCACAAGTAGACAAAGAAAATGATGAAGTTAATGAAG | GTGAATTAAAAGAAATC c.2640
L K A Q V D K E N D E V N E G | E L K E I p.880
. . . . . . g.76953
AAGCAAGATATCTCCAGCCTTCGTTATGAACTTTTGGAAGACAAGAGCCAAGCAACTGAG c.2700
K Q D I S S L R Y E L L E D K S Q A T E p.900
. . . . . . g.77013
GAATTAGCCATTCTAATTCATAAACTTAGTGAGAAACTGAATCCCAGCATGCTGAGATGT c.2760
E L A I L I H K L S E K L N P S M L R C p.920
g.77019
GAATGA c.2766
E X p.921
. . . . . . g.77079
tgcagcaacctggatttggctttgactatagcacaaatgtgggcaataatatttctaagt c.*60
. . . . . . g.77139
atgaaatacttgaaaaactatgatgtaaatttttagtattaactacctttatcatgtgaa c.*120
. . . . . . g.77199
cctttaaaagttagctcttaatggttttattgttttatcacatgaaaatgcattttattt c.*180
. . . . . . g.77259
gtctgctttgacattacagtggcataccattgtgttgaaaagcccaatattactatatta c.*240
. . . . . . g.77319
ttgaaacttttattcattttagagtaaactccacatctttgcactacctgtttgcctcca c.*300
. . . . . . g.77379
agagactatcagttccttggggacagggaccatgtcttattcatctttgtgtctccagca c.*360
. . . . . . g.77439
tctagtacagtgcctggtatatagtaggtgctcaataaatgttgaaaccaactgaactgc c.*420
. . . . . . g.77499
caacaaaataaaaataaaaagtcttcactatgtagcataccttcccttgtccaagttctg c.*480
. . . . . . g.77559
aagaggttttttttttttttttttaatagaaactgaagacattttacaaccagctatgac c.*540
. . . . . . g.77619
ttggtaagacattcttagaattttaggtgtcactgataatcctagaaccactgagcccca c.*600
. . . . . . g.77679
agtgaagaatttaacaacaaaatgggttaatgaaaaatataattacattgtatatttaag c.*660
. . . . g.77727
tttcatagaattatttaaaacaacacattaaagatttttctaaaatat c.*708
(downstream sequence)
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