(used for variant description)
(last modified February 18, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_021625.4 in the TRPV4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering TRPV4 transcript NM_021625.4.
(upstream sequence)
. . g.5029
ccggccgggattcaggaagcgcggatctc c.-61
. . . | 02 . . g.23611
ccggccgccggcgcccagccgtcccggag | gctgagcagtgcagacgggcctggggcaggc c.-1
. . . . . . g.23671
ATGGCGGATTCCAGCGAAGGCCCCCGCGCGGGGCCCGGGGAGGTGGCTGAGCTCCCCGGG c.60
M A D S S E G P R A G P G E V A E L P G p.20
. . . . . . g.23731
GATGAGAGTGGCACCCCAGGTGGGGAGGCTTTTCCTCTCTCCTCCCTGGCCAATCTGTTT c.120
D E S G T P G G E A F P L S S L A N L F p.40
. . . . . . g.23791
GAGGGGGAGGATGGCTCCCTTTCGCCCTCACCGGCTGATGCCAGTCGCCCTGCTGGCCCA c.180
E G E D G S L S P S P A D A S R P A G P p.60
. . . . . . g.23851
GGCGATGGGCGACCAAATCTGCGCATGAAGTTCCAGGGCGCCTTCCGCAAGGGGGTGCCC c.240
G D G R P N L R M K F Q G A F R K G V P p.80
. . . . . . g.23911
AACCCCATCGATCTGCTGGAGTCCACCCTATATGAGTCCTCGGTGGTGCCTGGGCCCAAG c.300
N P I D L L E S T L Y E S S V V P G P K p.100
. . . . . . g.23971
AAAGCACCCATGGACTCACTGTTTGACTACGGCACCTATCGTCACCACTCCAGTGACAAC c.360
K A P M D S L F D Y G T Y R H H S S D N p.120
. . | 03 . . . . g.29973
AAGAGGTGGAGGAAGAAGATCATAGA | GAAGCAGCCGCAGAGCCCCAAAGCCCCTGCCCCT c.420
K R W R K K I I E | K Q P Q S P K A P A P p.140
. . . . . . g.30033
CAGCCGCCCCCCATCCTCAAAGTCTTCAACCGGCCTATCCTCTTTGACATCGTGTCCCGG c.480
Q P P P I L K V F N R P I L F D I V S R p.160
. . . . . . g.30093
GGCTCCACTGCTGACCTGGACGGGCTGCTCCCATTCTTGCTGACCCACAAGAAACGCCTA c.540
G S T A D L D G L L P F L L T H K K R L p.180
. | 04 . . . . g.35305
ACTGATGAGGAGTTTCGAG | AGCCATCTACGGGGAAGACCTGCCTGCCCAAGGCCTTGCTG c.600
T D E E F R E | P S T G K T C L P K A L L p.200
. . . . . . g.35365
AACCTGAGCAATGGCCGCAACGACACCATCCCTGTGCTGCTGGACATCGCGGAGCGCACC c.660
N L S N G R N D T I P V L L D I A E R T p.220
. . . . . | 05 . g.37657
GGCAACATGAGGGAGTTCATTAACTCGCCCTTCCGTGACATCTACTATCGAG | GTCAGACA c.720
G N M R E F I N S P F R D I Y Y R G | Q T p.240
. . . . . . g.37717
GCCCTGCACATCGCCATTGAGCGTCGCTGCAAACACTACGTGGAACTTCTCGTGGCCCAG c.780
A L H I A I E R R C K H Y V E L L V A Q p.260
. . . . . . g.37777
GGAGCTGATGTCCACGCCCAGGCCCGTGGGCGCTTCTTCCAGCCCAAGGATGAGGGGGGC c.840
G A D V H A Q A R G R F F Q P K D E G G p.280
. | 06 . . . . . g.39542
TACTTCTACTTTG | GGGAGCTGCCCCTGTCGCTGGCTGCCTGCACCAACCAGCCCCACATT c.900
Y F Y F G | E L P L S L A A C T N Q P H I p.300
. . . . . . g.39602
GTCAACTACCTGACGGAGAACCCCCACAAGAAGGCGGACATGCGGCGCCAGGACTCGCGA c.960
V N Y L T E N P H K K A D M R R Q D S R p.320
. . . . . . g.39662
GGCAACACAGTGCTGCATGCGCTGGTGGCCATTGCTGACAACACCCGTGAGAACACCAAG c.1020
G N T V L H A L V A I A D N T R E N T K p.340
. . . . . . g.39722
TTTGTTACCAAGATGTACGACCTGCTGCTGCTCAAGTGTGCCCGCCTCTTCCCCGACAGC c.1080
F V T K M Y D L L L L K C A R L F P D S p.360
. . . . . . g.39782
AACCTGGAGGCCGTGCTCAACAACGACGGCCTCTCGCCCCTCATGATGGCTGCCAAGACG c.1140
N L E A V L N N D G L S P L M M A A K T p.380
. | 07 . . . . . g.41751
GGCAAGATTGGG | ATCTTTCAGCACATCATCCGGCGGGAGGTGACGGATGAGGACACACGG c.1200
G K I G | I F Q H I I R R E V T D E D T R p.400
. . . . . . g.41811
CACCTGTCCCGCAAGTTCAAGGACTGGGCCTATGGGCCAGTGTATTCCTCGCTTTATGAC c.1260
H L S R K F K D W A Y G P V Y S S L Y D p.420
. . . . . . g.41871
CTCTCCTCCCTGGACACGTGTGGGGAAGAGGCCTCCGTGCTGGAGATCCTGGTGTACAAC c.1320
L S S L D T C G E E A S V L E I L V Y N p.440
. | 08 . . . . . g.43968
AGCAAGATTGAG | AACCGCCACGAGATGCTGGCTGTGGAGCCCATCAATGAACTGCTGCGG c.1380
S K I E | N R H E M L A V E P I N E L L R p.460
. . . . . . g.44028
GACAAGTGGCGCAAGTTCGGGGCCGTCTCCTTCTACATCAACGTGGTCTCCTACCTGTGT c.1440
D K W R K F G A V S F Y I N V V S Y L C p.480
. . . . . | 09 . g.44394
GCCATGGTCATCTTCACTCTCACCGCCTACTACCAGCCGCTGGAGGGCACA | CCGCCGTAC c.1500
A M V I F T L T A Y Y Q P L E G T | P P Y p.500
. . . . . . g.44454
CCTTACCGCACCACGGTGGACTACCTGCGGCTGGCTGGCGAGGTCATTACGCTCTTCACT c.1560
P Y R T T V D Y L R L A G E V I T L F T p.520
. . | 10 . . . . g.44843
GGGGTCCTGTTCTTCTTCACCAAC | ATCAAAGACTTGTTCATGAAGAAATGCCCTGGAGTG c.1620
G V L F F F T N | I K D L F M K K C P G V p.540
. . . | 11 . . g.45612
AATTCTCTCTTCATTGATGGCTCCTTCCAGCTGCTCTA | CTTCATCTACTCTGTCCTGGTG c.1680
N S L F I D G S F Q L L Y | F I Y S V L V p.560
. . . . . . g.45672
ATCGTCTCAGCAGCCCTCTACCTGGCAGGGATCGAGGCCTACCTGGCCGTGATGGTCTTT c.1740
I V S A A L Y L A G I E A Y L A V M V F p.580
. . . . . . g.45732
GCCCTGGTCCTGGGCTGGATGAATGCCCTTTACTTCACCCGTGGGCTGAAGCTGACGGGG c.1800
A L V L G W M N A L Y F T R G L K L T G p.600
. . | 12 . . . . g.46014
ACCTATAGCATCATGATCCAGAAG | ATTCTCTTCAAGGACCTTTTCCGATTCCTGCTCGTC c.1860
T Y S I M I Q K | I L F K D L F R F L L V p.620
. . . | 13 . . . g.49720
TACTTGCTCTTCATGATCGGCTACGCTTCAG | CCCTGGTCTCCCTCCTGAACCCGTGTGCC c.1920
Y L L F M I G Y A S A | L V S L L N P C A p.640
. . . . . . g.49780
AACATGAAGGTGTGCAATGAGGACCAGACCAACTGCACAGTGCCCACTTACCCCTCGTGC c.1980
N M K V C N E D Q T N C T V P T Y P S C p.660
. . . . . . g.49840
CGTGACAGCGAGACCTTCAGCACCTTCCTCCTGGACCTGTTTAAGCTGACCATCGGCATG c.2040
R D S E T F S T F L L D L F K L T I G M p.680
. . . . . . g.49900
GGCGACCTGGAGATGCTGAGCAGCACCAAGTACCCCGTGGTCTTCATCATCCTGCTGGTG c.2100
G D L E M L S S T K Y P V V F I I L L V p.700
. . . . . . g.49960
ACCTACATCATCCTCACCTTTGTGCTGCTCCTCAACATGCTCATTGCCCTCATGGGCGAG c.2160
T Y I I L T F V L L L N M L I A L M G E p.720
. . . . | 14 . g.51582
ACAGTGGGCCAGGTCTCCAAGGAGAGCAAGCACATCTGGAAGCTGCAG | TGGGCCACCACC c.2220
T V G Q V S K E S K H I W K L Q | W A T T p.740
. . . . . . g.51642
ATCCTGGACATTGAGCGCTCCTTCCCCGTATTCCTGAGGAAGGCCTTCCGCTCTGGGGAG c.2280
I L D I E R S F P V F L R K A F R S G E p.760
. . . . . | 15 . g.53974
ATGGTCACCGTGGGCAAGAGCTCGGACGGCACTCCTGACCGCAGGTGGTGCTTCAG | GGTG c.2340
M V T V G K S S D G T P D R R W C F R | V p.780
. . . . . . g.54034
GATGAGGTGAACTGGTCTCACTGGAACCAGAACTTGGGCATCATCAACGAGGACCCGGGC c.2400
D E V N W S H W N Q N L G I I N E D P G p.800
. . . . . | 16 g.54631
AAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGG | AT c.2460
K N E T Y Q Y Y G F S H T V G R L R R D | p.820
. . . . . . g.54691
CGCTGGTCCTCGGTGGTACCCCGCGTGGTGGAACTGAACAAGAACTCGAACCCGGACGAG c.2520
R W S S V V P R V V E L N K N S N P D E p.840
. . . . . . g.54751
GTGGTGGTGCCTCTGGACAGCATGGGGAACCCCCGCTGCGATGGCCACCAGCAGGGTTAC c.2580
V V V P L D S M G N P R C D G H Q Q G Y p.860
. . . g.54787
CCCCGCAAGTGGAGGACTGATGACGCCCCGCTCTAG c.2616
P R K W R T D D A P L X p.871
. . . . . . g.54847
ggactgcagcccagccccagcttctctgcccactcatttctagtccagccgcatttcagc c.*60
. . . . . . g.54907
agtgccttctggggtgtccccccacaccctgctttggccccagaggcgagggaccagtgg c.*120
. . . . . . g.54967
aggtgccagggaggccccaggaccctgtggtcccctggctctgcctccccaccctggggt c.*180
. . . . . . g.55027
gggggctcccggccacctgtcttgctcctatggagtcacataagccaacgccagagcccc c.*240
. . . . . . g.55087
tccacctcaggccccagcccctgcctctccattatttatttgctctgctctcaggaagcg c.*300
. . . . . . g.55147
acgtgacccctgccccagctggaacctggcagaggccttaggaccccgttccaagtgcac c.*360
. . . . . . g.55207
tgcccggccaagccccagcctcagcctgcgcctgagctgcatgcgccaccatttttggca c.*420
. . . . . . g.55267
gcgtggcagctttgcaaggggctggggccctcggcgtggggccatgccttctgtgtgttc c.*480
. . . . . g.55321
tgtagtgtctgggatttgccggtgctcaataaatgtttattcattgacggtgga c.*534
(downstream sequence)
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