(used for variant description)
(last modified January 27, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_002929.2 in the GRK1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000013.11, covering GRK1 transcript NM_002929.2.
(upstream sequence)
. . . . g.5048
acgggccacaggccaagggcagcagtcaggcctgctctgtctgtgaac c.-61
. . . . . . g.5108
gctcccggcttggcctcggctgatgggccctcacgcctgaagcgggcaggaagctccggg c.-1
. . . . . . g.5168
ATGGATTTCGGGTCTTTGGAGACCGTGGTGGCCAACTCTGCCTTCATCGCCGCCCGAGGC c.60
M D F G S L E T V V A N S A F I A A R G p.20
. . . . . . g.5228
AGCTTTGACGGCAGCAGCTCCCAACCCTCCCGGGACAAGAAGTACCTGGCCAAGCTCAAG c.120
S F D G S S S Q P S R D K K Y L A K L K p.40
. . . . . . g.5288
CTGCCCCCGCTGTCCAAGTGTGAGTCCCTCCGCGACAGCCTCAGCCTGGAGTTTGAGAGT c.180
L P P L S K C E S L R D S L S L E F E S p.60
. . . . . . g.5348
GTGTGCTTGGAGCAGCCCATCGGCAAGAAGCTCTTTCAGCAGTTCCTACAATCGGCAGAG c.240
V C L E Q P I G K K L F Q Q F L Q S A E p.80
. . . . . . g.5408
AAGCACCTGCCGGCCCTGGAGCTCTGGAAAGACATCGAGGACTATGACACGGCAGACAAT c.300
K H L P A L E L W K D I E D Y D T A D N p.100
. . . . . . g.5468
GACCTCCAGCCACAGAAGGCCCAGACCATCCTGGCCCAGTACCTGGACCCCCAGGCCAAA c.360
D L Q P Q K A Q T I L A Q Y L D P Q A K p.120
. . . . . . g.5528
CTCTTCTGCAGCTTCCTGGATGAGGGGATAGTGGCGAAGTTTAAGGAGGGGCCTGTGGAG c.420
L F C S F L D E G I V A K F K E G P V E p.140
. . . . . . g.5588
ATCCAGGACGGGCTCTTCCAGCCCCTGCTGCAGGCCACCCTGGCACACCTGGGCCAAGCC c.480
I Q D G L F Q P L L Q A T L A H L G Q A p.160
. . . . . . g.5648
CCCTTCCAGGAGTACCTGGGCAGCCTGTACTTCCTGAGGTTCCTGCAGTGGAAGTGGCTG c.540
P F Q E Y L G S L Y F L R F L Q W K W L p.180
. . . . . . g.5708
GAAGCCCAGCCCATGGGGGAGGACTGGTTCCTGGACTTCAGGGTCCTAGGGAAAGGGGGC c.600
E A Q P M G E D W F L D F R V L G K G G p.200
. . . . . . g.5768
TTCGGGGAGGTGTCGGCCTGCCAGATGAAGGCGACCGGCAAGCTGTATGCCTGCAAGAAG c.660
F G E V S A C Q M K A T G K L Y A C K K p.220
. . . | 02 . . g.7429
CTGAACAAGAAGCGGCTGAAGAAGAGGAAGGGCTACCAG | GGTGCTATGGTGGAGAAGAAG c.720
L N K K R L K K R K G Y Q | G A M V E K K p.240
. . . . . . g.7489
ATTCTGATGAAAGTACACAGCAGGTTCATCGTGTCTCTGGCCTATGCGTTTGAAACCAAA c.780
I L M K V H S R F I V S L A Y A F E T K p.260
. . . . | 03. . g.9233
GCCGACCTCTGTCTGGTGATGACCATCATGAACGGAGGTGACATCAG | GTACCACATCTAC c.840
A D L C L V M T I M N G G D I R | Y H I Y p.280
. . . . . . g.9293
AACGTGAATGAGGAGAACCCTGGCTTCCCGGAGCCGCGCGCCCTCTTCTACACGGCGCAG c.900
N V N E E N P G F P E P R A L F Y T A Q p.300
. . . . . . g.9353
ATCATCTGCGGCCTGGAGCACCTGCACCAGAGGCGGATCGTCTACCGCGACCTCAAGCCC c.960
I I C G L E H L H Q R R I V Y R D L K P p.320
. . | 04 . . . . g.109488
GAGAACGTGCTGCTGGACAATGACG | GCAATGTCCGGATCTCTGACCTTGGGCTGGCCGTG c.1020
E N V L L D N D G | N V R I S D L G L A V p.340
. . . . | 05 . g.117609
GAGCTGCTGGACGGACAGAGCAAGACCAAGGGCTACGCAGGGACCCCAG | GTTTCATGGCC c.1080
E L L D G Q S K T K G Y A G T P G | F M A p.360
. . . . . . g.117669
CCCGAGCTCCTGCAGGGCGAGGAGTACGACTTCTCCGTGGACTACTTTGCCCTGGGGGTC c.1140
P E L L Q G E E Y D F S V D Y F A L G V p.380
. . . . . | 06 . g.119269
ACCCTGTATGAGATGATTGCGGCCAGAGGACCCTTCCGAGCCCGTGGAGAGAAG | GTGGAG c.1200
T L Y E M I A A R G P F R A R G E K | V E p.400
. . . . . . g.119329
AACAAGGAGCTGAAGCACCGGATCATCTCAGAGCCCGTGAAGTACCCTGATAAGTTCAGC c.1260
N K E L K H R I I S E P V K Y P D K F S p.420
. . . . . . g.119389
CAGGCCAGCAAGGACTTCTGCGAGGCGCTGCTGGAGAAGGACCCGGAGAAGCGCCTGGGG c.1320
Q A S K D F C E A L L E K D P E K R L G p.440
. . . . . . g.119449
TTCAGAGATGAGACCTGCGACAAGCTCCGTGCCCACCCCCTCTTCAAGGACCTTAACTGG c.1380
F R D E T C D K L R A H P L F K D L N W p.460
. | 07 . . . . . g.121491
AGGCAGCTGGAGGCTG | GGATGCTGATGCCCCCTTTCATCCCAGACTCCAAAACTGTCTAC c.1440
R Q L E A G | M L M P P F I P D S K T V Y p.480
. . . . . . g.121551
GCAAAGGATATTCAGGACGTGGGTGCCTTTTCCACCGTCAAAGGTGTGGCCTTTGACAAA c.1500
A K D I Q D V G A F S T V K G V A F D K p.500
. . . . . . g.121611
ACAGACACAGAATTCTTTCAGGAATTTGCCACTGGCAACTGCCCCATCCCCTGGCAGGAG c.1560
T D T E F F Q E F A T G N C P I P W Q E p.520
. . . . . . g.121671
GAGATGATCGAGACGGGCATCTTTGGCGAGCTGAACGTGTGGCGCTCGGACGGTCAGATG c.1620
E M I E T G I F G E L N V W R S D G Q M p.540
. . . . . . g.121731
CCGGACGACATGAAGGGCATCTCCGGGGGCTCCAGCTCCTCGTCCAAGTCAGGGATGTGT c.1680
P D D M K G I S G G S S S S S K S G M C p.560
. g.121743
CTGGTTTCCTAG c.1692
L V S X p.563
. . . . . . g.121803
gtgacgccccagagtccacgtggaggaaaaggacccatacggctcgatgggggccgcctg c.*60
. . . . . . g.121863
cctccgtggtgccagcctggggtctgctagcaaggggacacgtggttccctccacccagg c.*120
. . . . . . g.121923
tccccatcacgccatctccttgcggcccaaggaggagaaagcccacatcggcctgagccg c.*180
. . . . . . g.121983
ccagacgcacatgctggtgccgtgagcccccgactgcatatttcacgtcttttgctccat c.*240
. . . . . . g.122043
ctcactgagaagacataagatgctctccagagggagtaagccaaaaatctacaaactctt c.*300
g.122044
a c.*301
(downstream sequence)
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