(used for variant description)
(last modified July 18, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_004621.5 in the TRPC6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011476.1, covering TRPC6 transcript NM_004621.5.
(upstream sequence)
g.5005
gggat c.-421
. . . . . . g.5065
cttgacggagagtgcgggggatgaaggcgggagctgagggctggagagtctctgttgaca c.-361
. . . . . . g.5125
tagtaactcttcagctccgtctcccttgctctccgctcttacgcttcgctaccaccagcg c.-301
. . . . . . g.5185
gccccgcctgtgccctctctgcccgggcgccccagacgcatcctcgcggggtctcctcgg c.-241
. . . . . . g.5245
cctgacctgctcaggtcaagatcctctttgcacccccttaagtggtgacttttccccggg c.-181
. . . . . . g.5305
ccagtgggcgagccacttgcggcgggcgtctgcaccccctgcttcaccgtcgtcccctgg c.-121
. . . . . . g.5365
gcaccggtctgcccaggtccagttcggccgctgacgcgaaccctccgcaccgggtccccg c.-61
. . . . . . g.5425
ctggaactgcccactcggctcccccgggagcggggcccaggccagtcgggcgttcccgcc c.-1
. . . . . . g.5485
ATGAGCCAGAGCCCGGCGTTCGGGCCCCGGAGGGGCAGTTCTCCCCGGGGCGCTGCCGGA c.60
M S Q S P A F G P R R G S S P R G A A G p.20
. . . . . . g.5545
GCCGCTGCGCGGCGCAACGAGAGCCAGGACTATCTGCTCATGGACTCGGAGCTGGGAGAA c.120
A A A R R N E S Q D Y L L M D S E L G E p.40
. . . . . | 02 . g.84140
GACGGCTGCCCGCAAGCCCCGCTGCCTTGCTACGGCTACTACCCCTGCTT | CCGGGGATCT c.180
D G C P Q A P L P C Y G Y Y P C F | R G S p.60
. . . . . . g.84200
GACAACAGACTGGCTCACCGGCGGCAGACAGTTCTCCGTGAGAAGGGGAGAAGGTTAGCT c.240
D N R L A H R R Q T V L R E K G R R L A p.80
. . . . . . g.84260
AATCGAGGACCAGCATACATGTTTAGTGATCGCTCCACAAGCCTATCTATAGAGGAGGAA c.300
N R G P A Y M F S D R S T S L S I E E E p.100
. . . . . . g.84320
CGCTTTTTGGATGCAGCTGAATATGGTAACATCCCAGTGGTGCGGAAGATGTTAGAAGAA c.360
R F L D A A E Y G N I P V V R K M L E E p.120
. . . . . . g.84380
TGCCACTCACTCAACGTTAACTGTGTGGATTACATGGGCCAGAATGCCCTACAGTTGGCA c.420
C H S L N V N C V D Y M G Q N A L Q L A p.140
. . . . . . g.84440
GTGGCCAATGAGCATCTGGAAATTACAGAACTTCTTCTCAAGAAAGAAAACCTCTCTCGA c.480
V A N E H L E I T E L L L K K E N L S R p.160
. . . . . . g.84500
GTTGGGGATGCTTTGCTTCTAGCTATTAGTAAAGGTTATGTTCGGATTGTGGAAGCAATT c.540
V G D A L L L A I S K G Y V R I V E A I p.180
. . . . . . g.84560
CTCAGTCATCCGGCTTTTGCTGAAGGCAAGAGGTTAGCAACCAGCCCTAGCCAGTCTGAA c.600
L S H P A F A E G K R L A T S P S Q S E p.200
. . . . . . g.84620
CTCCAGCAAGATGATTTTTATGCCTATGATGAAGATGGGACACGGTTCTCCCATGATGTG c.660
L Q Q D D F Y A Y D E D G T R F S H D V p.220
. . . . . . g.84680
ACTCCAATCATTCTGGCTGCCCACTGCCAGGAATATGAAATTGTGCATACCCTCCTGCGG c.720
T P I I L A A H C Q E Y E I V H T L L R p.240
. . . . . . g.84740
AAGGGTGCTAGGATTGAACGGCCTCATGATTATTTCTGCAAGTGCAATGACTGCAACCAG c.780
K G A R I E R P H D Y F C K C N D C N Q p.260
. . . . . . g.84800
AAACAGAAGCATGACTCGTTTAGCCACTCCAGATCTAGGATTAATGCCTATAAAGGCCTG c.840
K Q K H D S F S H S R S R I N A Y K G L p.280
. . . . . . g.84860
GCAAGTCCGGCTTACCTGTCATTGTCTAGTGAAGATCCAGTCATGACGGCTTTAGAACTT c.900
A S P A Y L S L S S E D P V M T A L E L p.300
. . . . | 03 . . g.97205
AGCAATGAACTGGCAGTTCTGGCCAATATTGAGAAAGAGTTCAAG | AATGACTACAAAAAA c.960
S N E L A V L A N I E K E F K | N D Y K K p.320
. . . . . . g.97265
CTGTCAATGCAGTGCAAAGACTTTGTTGTTGGACTCCTTGATCTGTGCAGAAACACTGAA c.1020
L S M Q C K D F V V G L L D L C R N T E p.340
. . . . . . g.97325
GAAGTCGAGGCCATTCTGAATGGGGATGTTGAAACGCTCCAGAGTGGTGATCACGGTCGC c.1080
E V E A I L N G D V E T L Q S G D H G R p.360
. . . . | 04 . g.99839
CCAAATCTCAGCCGTTTAAAACTTGCCATTAAATATGAAGTAAAAAAA | TTTGTAGCTCAT c.1140
P N L S R L K L A I K Y E V K K | F V A H p.380
. . . . . . g.99899
CCAAACTGCCAACAGCAACTTCTCTCCATTTGGTATGAGAATCTTTCTGGTTTACGACAG c.1200
P N C Q Q Q L L S I W Y E N L S G L R Q p.400
. . . . . . g.99959
CAGACAATGGCGGTCAAGTTCCTTGTGGTCCTTGCTGTTGCCATTGGACTGCCCTTCCTG c.1260
Q T M A V K F L V V L A V A I G L P F L p.420
. . . | 05 . . . g.105790
GCTCTCATTTACTGGTTTGCTCCATGCAGCAAG | ATGGGGAAGATAATGCGTGGACCATTC c.1320
A L I Y W F A P C S K | M G K I M R G P F p.440
. . . . . . g.105850
ATGAAGTTTGTAGCACACGCAGCCTCCTTCACCATTTTTCTGGGACTGCTAGTCATGAAT c.1380
M K F V A H A A S F T I F L G L L V M N p.460
. . . . . . g.105910
GCAGCTGACAGATTTGAAGGCACAAAACTCCTTCCTAATGAAACCAGCACAGATAATGCA c.1440
A A D R F E G T K L L P N E T S T D N A p.480
. . . . . . g.105970
AAACAGCTGTTCAGGATGAAAACATCCTGCTTCTCATGGATGGAGATGCTCATTATATCC c.1500
K Q L F R M K T S C F S W M E M L I I S p.500
. | 06 . . . . . g.112444
TGGGTAATAG | GCATGATATGGGCTGAATGTAAAGAAATCTGGACTCAGGGCCCCAAGGAA c.1560
W V I G | M I W A E C K E I W T Q G P K E p.520
. . . . . . g.112504
TATTTGTTTGAGTTGTGGAACATGCTTGATTTTGGTATGTTAGCAATTTTCGCAGCATCA c.1620
Y L F E L W N M L D F G M L A I F A A S p.540
. . . . . . g.112564
TTCATTGCGAGATTCATGGCATTTTGGCATGCTTCCAAAGCCCAGAGCATCATTGACGCA c.1680
F I A R F M A F W H A S K A Q S I I D A p.560
. . . . . . g.112624
AATGATACTTTGAAGGACTTGACGAAAGTAACATTGGGAGACAATGTGAAATACTACAAT c.1740
N D T L K D L T K V T L G D N V K Y Y N p.580
| 07 . . . . . . g.115211
TTGG | CCAGGATAAAGTGGGACCCCTCTGATCCTCAAATAATATCTGAAGGTCTTTATGCA c.1800
L A | R I K W D P S D P Q I I S E G L Y A p.600
. . . . . . g.115271
ATTGCTGTAGTTTTAAGTTTCTCTAGGATAGCTTATATTTTACCAGCAAATGAAAGCTTT c.1860
I A V V L S F S R I A Y I L P A N E S F p.620
. . . . . . g.115331
GGACCTCTGCAGATATCACTTGGAAGAACAGTCAAAGACATCTTCAAGTTCATGGTCATA c.1920
G P L Q I S L G R T V K D I F K F M V I p.640
. . . . . . g.115391
TTCATTATGGTGTTTGTGGCCTTTATGATTGGAATGTTCAATCTCTACTCCTACTACATT c.1980
F I M V F V A F M I G M F N L Y S Y Y I p.660
. . | 08 . . . g.116627
GGTGCAAAACAAAATGAAGCCTTCACAAC | AGTTGAAGAGAGTTTTAAGACACTGTTCTGG c.2040
G A K Q N E A F T T | V E E S F K T L F W p.680
. . . . . . g.116687
GCTATATTTGGACTTTCTGAAGTGAAATCAGTGGTCATCAACTATAACCACAAATTCATT c.2100
A I F G L S E V K S V V I N Y N H K F I p.700
. . . . . . g.116747
GAAAACATTGGTTACGTTCTTTATGGAGTCTATAATGTTACGATGGTCATTGTTTTGCTA c.2160
E N I G Y V L Y G V Y N V T M V I V L L p.720
. . . . | 09 . . g.117557
AATATGTTAATTGCCATGATCAACAGTTCATTCCAGGAAATTGAG | GATGACGCTGATGTG c.2220
N M L I A M I N S S F Q E I E | D D A D V p.740
. . . . . . g.117617
GAGTGGAAATTTGCAAGGGCCAAACTCTGGTTTTCCTACTTTGAGGAGGGCAGAACACTT c.2280
E W K F A R A K L W F S Y F E E G R T L p.760
. . . . . . g.117677
CCTGTACCCTTCAATCTGGTGCCGAGTCCAAAGTCCCTGTTTTATCTCTTACTGAAGCTT c.2340
P V P F N L V P S P K S L F Y L L L K L p.780
. . . . . . g.117737
AAAAAATGGATTTCTGAGCTGTTCCAGGGCCATAAAAAAGGTTTCCAGGAAGATGCAGAG c.2400
K K W I S E L F Q G H K K G F Q E D A E p.800
| 10 . . . . . g.119478
ATGAACAAG | ATAAATGAAGAAAAGAAACTTGGAATTTTAGGAAGTCATGAAGACCTTTCA c.2460
M N K | I N E E K K L G I L G S H E D L S p.820
. . | 11 . . . . g.133863
AAATTATCACTTGACAAAAAACAG | GTTGGGCACAATAAACAACCAAGTATAAGGAGCTCA c.2520
K L S L D K K Q | V G H N K Q P S I R S S p.840
. . . . | 12 . g.135215
GAAGATTTCCATCTAAATAGTTTCAATAATCCTCCAAGACAATATCAG | AAAATAATGAAA c.2580
E D F H L N S F N N P P R Q Y Q | K I M K p.860
. . . . . . g.135275
AGGCTCATTAAAAGATATGTACTGCAGGCCCAGATAGATAAGGAGAGTGATGAAGTGAAC c.2640
R L I K R Y V L Q A Q I D K E S D E V N p.880
| 13 . . . . . . g.135878
GAAG | GGGAACTGAAGGAAATTAAGCAGGACATCTCAAGTCTCCGCTATGAACTCCTTGAA c.2700
E G | E L K E I K Q D I S S L R Y E L L E p.900
. . . . . . g.135938
GAAAAATCTCAGAATACAGAAGACCTAGCAGAACTTATTAGAGAACTTGGAGAGAAATTA c.2760
E K S Q N T E D L A E L I R E L G E K L p.920
. . . g.135974
TCCATGGAACCAAATCAAGAGGAAACCAATAGATAA c.2796
S M E P N Q E E T N R X p.931
. . . . . . g.136034
tgcgaagacttccttagaaattcatatttatttgtccacttgaagccatattattttctg c.*60
. . . . . . g.136094
atttattttcttaagtgccaatgggcccaccttttaaacaagaaaacgttaaataacttg c.*120
. . . . . . g.136154
ggccatcctatcatctggagccctagtatctaatttttttggtgattaaactccattgtt c.*180
. . . . . . g.136214
cagggtaaaggctgtagataatgaggaaaattatgcccagttgtttggtgcttgttttat c.*240
. . . . . . g.136274
aaactgctttcttggatataactaactcttgtgatgatgtcattgccatgtagtgtctgc c.*300
. . . . . . g.136334
ctgaaaatgggtcccagcggacaggggctgacccacgttactccccatgcggtttttcct c.*360
. . . . . . g.136394
ctgaagtttatttcaggttccttcttgcctgctctgtggatcccctgctggggactccca c.*420
. . . . . . g.136454
gctctgaaatttgggaaaaagtagcccatgggcctttagaatgctttaatcctttcttta c.*480
. . . . . . g.136514
gaatgctgtttaaacaccatttaccctacttatccctcaatgcacatgattgataccgtt c.*540
. . . . . . g.136574
catacaaaatggtcttacatctatgtaaaattttctgattcatctatttgaaaacattac c.*600
. . . . . . g.136634
acttaacaatgaaaaaagtttttcctccactgaaccctggaaacatggtccagttttgtg c.*660
. . . . . . g.136694
tgtgtgcgtgtgtgtaaatgtgtacacacagacataaagtacttgccctagtttgtggct c.*720
. . . . . . g.136754
aatgtggacacacaaaagctctttatgttataaatttttattgtcactaaaaaattttac c.*780
. . . . . . g.136814
tgtctaaataagtaccttttattggagaaaaatcaaaaccccaaacaaacactgtggttg c.*840
. . . . . . g.136874
tttggttccattatagcacaattttgtgccatttctgggagcatttacagatgaatcccc c.*900
. . . . . . g.136934
acacttagccattgaatgtaaaggggaaaaataaggtgagaatttgtaaatacttatctg c.*960
. . . . . . g.136994
ttattttcaatatgttctatccttctacccaaatatataaaacaggaatttgcattcatg c.*1020
. . . . . . g.137054
tgcatttaccaagaggttgttgttgttacttactgatcatgtgaagtggtgtcttaaaca c.*1080
. . . . . . g.137114
actaaaagcgatgaaggttcatatgtttactcaaagaccattggcattcagaggatgctg c.*1140
. . . . . . g.137174
gacattaactggaactgctacttccaattcaataatgggagatttcaaatgcaaatcttt c.*1200
. . . . . . g.137234
aacttcatcttaaagatgaaatggttgcagaaaatctgtttagctccaactttggcttaa c.*1260
. . . . . . g.137294
tttaaatcaaagaacatttatgtaaccagatcagaaaatacagctgaaaatttatattca c.*1320
. . . . . . g.137354
gtgattttgtatttgtggatactacttatggaaaagttacttggtgatacataaagatcg c.*1380
. g.137365
attttcaaata c.*1391
(downstream sequence)
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