(used for variant description)
(last modified May 9, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000316.2 in the PTH1R gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008864.1, covering PTH1R transcript NM_000316.2.
(upstream sequence)
. . g.5023
ccacagaagctgctcagggacta c.-181
. . . . . . g.5083
tccatggcctccccgtggccaacttgagtctgctctgcagctttaggcccgacttggaag c.-121
. . | 02 . . . . g.8361
gcccatgggctgcag | atgaggaaactgaggtccagacagccgaagagtggtagtgtccag c.-61
. . | 03 . . . . g.10814
gacacacaactg | ggccggcggcggcggctgccccgagggacgcggccctaggcggtggcg c.-1
. . . . . . g.10874
ATGGGGACCGCCCGGATCGCACCCGGCCTGGCGCTCCTGCTCTGCTGCCCCGTGCTCAGC c.60
M G T A R I A P G L A L L L C C P V L S p.20
. | 04 . . . . . g.21206
TCCGCGTACGCGCTG | GTGGATGCAGATGACGTCATGACTAAAGAGGAACAGATCTTCCTG c.120
S A Y A L | V D A D D V M T K E E Q I F L p.40
. . . . . | 05 g.22991
CTGCACCGTGCTCAGGCCCAGTGCGAAAAACGGCTCAAGGAGGTCCTGCAGAGGCCAG | CC c.180
L H R A Q A Q C E K R L K E V L Q R P A | p.60
. . . . . . g.23051
AGCATAATGGAATCAGACAAGGGATGGACATCTGCGTCCACATCAGGGAAGCCCAGGAAA c.240
S I M E S D K G W T S A S T S G K P R K p.80
. . . . . . g.23111
GATAAGGCATCTGGGAAGCTCTACCCTGAGTCTGAGGAGGACAAGGAGGCACCCACTGGC c.300
D K A S G K L Y P E S E E D K E A P T G p.100
. | 06 . . . . . g.25156
AGCAGGTACCGAG | GGCGCCCCTGTCTGCCGGAATGGGACCACATCCTGTGCTGGCCGCTG c.360
S R Y R G | R P C L P E W D H I L C W P L p.120
. . . . . . g.25216
GGGGCACCAGGTGAGGTGGTGGCTGTGCCCTGTCCGGACTACATTTATGACTTCAATCAC c.420
G A P G E V V A V P C P D Y I Y D F N H p.140
| 07 . . . . . . g.25384
AAAG | GCCATGCCTACCGACGCTGTGACCGCAATGGCAGCTGGGAGCTGGTGCCTGGGCAC c.480
K G | H A Y R R C D R N G S W E L V P G H p.160
. . . . . . g.25444
AACAGGACGTGGGCCAACTACAGCGAGTGTGTCAAATTTCTCACCAATGAGACTCGTGAA c.540
N R T W A N Y S E C V K F L T N E T R E p.180
| 08 . . . . . . g.25689
CGG | GAGGTGTTTGACCGCCTGGGCATGATTTACACCGTGGGCTACTCCGTGTCCCTGGCG c.600
R | E V F D R L G M I Y T V G Y S V S L A p.200
. . . | 09 . . g.25938
TCCCTCACCGTAGCTGTGCTCATCCTGGCCTACTTTAG | GCGGCTGCACTGCACGCGCAAC c.660
S L T V A V L I L A Y F R | R L H C T R N p.220
. . . . . . g.25998
TACATCCACATGCACCTGTTCCTGTCCTTCATGCTGCGCGCCGTGAGCATCTTCGTCAAG c.720
Y I H M H L F L S F M L R A V S I F V K p.240
. . . . . . g.26058
GACGCTGTGCTCTACTCTGGCGCCACGCTTGATGAGGCTGAGCGCCTCACCGAGGAGGAG c.780
D A V L Y S G A T L D E A E R L T E E E p.260
. . . . . | 10 . g.26563
CTGCGCGCCATCGCCCAGGCGCCCCCGCCGCCTGCCACCGCCGCTGCCGGCTAC | GCGGGC c.840
L R A I A Q A P P P P A T A A A G Y | A G p.280
. . . . . . g.26623
TGCAGGGTGGCTGTGACCTTCTTCCTTTACTTCCTGGCCACCAACTACTACTGGATTCTG c.900
C R V A V T F F L Y F L A T N Y Y W I L p.300
. . . . . . g.26683
GTGGAGGGGCTGTACCTGCACAGCCTCATCTTCATGGCCTTCTTCTCAGAGAAGAAGTAC c.960
V E G L Y L H S L I F M A F F S E K K Y p.320
. . | 11 . . . g.28311
CTGTGGGGCTTCACAGTCTTCGGCTGGG | GTCTGCCCGCTGTCTTCGTGGCTGTGTGGGTC c.1020
L W G F T V F G W G | L P A V F V A V W V p.340
. . | 12 . . . g.28699
AGTGTCAGAGCTACCCTGGCCAACACCGG | GTGCTGGGACTTGAGCTCCGGGAACAAAAAG c.1080
S V R A T L A N T G | C W D L S S G N K K p.360
. . . | 13 . . . g.29044
TGGATCATCCAGGTGCCCATCCTGGCCTCCATTGTG | CTCAACTTCATCCTCTTCATCAAT c.1140
W I I Q V P I L A S I V | L N F I L F I N p.380
. . . . . . g.29104
ATCGTCCGGGTGCTCGCCACCAAGCTGCGGGAGACCAACGCCGGCCGGTGTGACACACGG c.1200
I V R V L A T K L R E T N A G R C D T R p.400
. | 14 . . . . . g.29829
CAGCAGTACCG | GAAGCTGCTCAAATCCACGCTGGTGCTCATGCCCCTCTTTGGCGTCCAC c.1260
Q Q Y R | K L L K S T L V L M P L F G V H p.420
. . . . . . g.29889
TACATTGTCTTCATGGCCACACCATACACCGAGGTCTCAGGGACGCTCTGGCAAGTCCAG c.1320
Y I V F M A T P Y T E V S G T L W Q V Q p.440
. . . | 15 . . . g.30030
ATGCACTATGAGATGCTCTTCAACTCCTTCCAG | GGATTTTTTGTCGCAATCATATACTGT c.1380
M H Y E M L F N S F Q | G F F V A I I Y C p.460
. | 16 . . . . . g.30569
TTCTGCAATGGCGAG | GTACAAGCTGAGATCAAGAAATCTTGGAGCCGCTGGACACTGGCA c.1440
F C N G E | V Q A E I K K S W S R W T L A p.480
. . . . . . g.30629
CTGGACTTCAAGCGAAAGGCACGCAGCGGGAGCAGCAGCTATAGCTACGGCCCCATGGTG c.1500
L D F K R K A R S G S S S Y S Y G P M V p.500
. . . . . . g.30689
TCCCACACAAGTGTGACCAATGTCGGCCCCCGTGTGGGACTCGGCCTGCCCCTCAGCCCC c.1560
S H T S V T N V G P R V G L G L P L S P p.520
. . . . . . g.30749
CGCCTACTGCCCACTGCCACCACCAACGGCCACCCTCAGCTGCCTGGCCATGCCAAGCCA c.1620
R L L P T A T T N G H P Q L P G H A K P p.540
. . . . . . g.30809
GGGACCCCAGCCCTGGAGACCCTCGAGACCACACCACCTGCCATGGCTGCTCCCAAGGAC c.1680
G T P A L E T L E T T P P A M A A P K D p.560
. . . . . . g.30869
GATGGGTTCCTCAACGGCTCCTGCTCAGGCCTGGACGAGGAGGCCTCTGGGCCTGAGCGG c.1740
D G F L N G S C S G L D E E A S G P E R p.580
. . . . g.30911
CCACCTGCCCTGCTACAGGAAGAGTGGGAGACAGTCATGTGA c.1782
P P A L L Q E E W E T V M X p.593
. . . . . . g.30971
ccaggcgctgggggctggacctgctgacatagtggatggacagatggaccaaaagatggg c.*60
. . . . . . g.31031
tggttgaatgatttcccactcagggctggggccaagaggaaaaacagggaaaaaaagaaa c.*120
. . g.31054
aaaaaaagaaaaaggaaaaggaa c.*143
(downstream sequence)
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