(used for variant description)
(last modified March 10, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_000823.3 in the GHRHR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021416.1, covering GHRHR transcript NM_000823.3.
(upstream sequence)
. . . . g.5048
agccaaggcttactgaggctggtggagggagccactgctgggctcacc c.-1
. . . . . | 02. g.9816
ATGGACCGCCGGATGTGGGGGGCCCACGTCTTCTGCGTGTTGAGCCCGTTACCGACC | GTA c.60
M D R R M W G A H V F C V L S P L P T | V p.20
. . . . . . g.9876
TTGGGCCACATGCACCCAGAATGTGACTTCATCACCCAGCTGAGAGAGGATGAGAGTGCC c.120
L G H M H P E C D F I T Q L R E D E S A p.40
. . . . | 03 . . g.10062
TGTCTACAAGCAGCAGAGGAGATGCCCAACACCACCCTGG | GCTGCCCTGCGACCTGGGAT c.180
C L Q A A E E M P N T T L G | C P A T W D p.60
. . . . . . g.10122
GGGCTGCTGTGCTGGCCAACGGCAGGCTCTGGCGAGTGGGTCACCCTCCCCTGCCCGGAT c.240
G L L C W P T A G S G E W V T L P C P D p.80
. . | 04 . . . g.10878
TTCTTCTCTCACTTCAGCTCAGAGTCAG | GGGCTGTGAAACGGGATTGTACTATCACTGGC c.300
F F S H F S S E S G | A V K R D C T I T G p.100
. . . . . . g.10938
TGGTCTGAGCCCTTTCCACCTTACCCTGTGGCCTGCCCTGTGCCTCTGGAGCTGCTGGCT c.360
W S E P F P P Y P V A C P V P L E L L A p.120
| 05 . . . . . . g.12152
GAGGAG | GAATCTTACTTCTCCACAGTGAAGATTATCTACACCGTGGGCCATAGCATCTCT c.420
E E | E S Y F S T V K I I Y T V G H S I S p.140
. . . . | 06 . . g.12958
ATTGTAGCCCTCTTCGTGGCCATCACCATCCTGGTTGCTCTCAG | GAGGCTCCACTGCCCC c.480
I V A L F V A I T I L V A L R | R L H C P p.160
. . . . . . g.13018
CGGAACTACGTCCACACCCAGCTGTTCACCACTTTTATCCTCAAGGCGGGAGCTGTGTTC c.540
R N Y V H T Q L F T T F I L K A G A V F p.180
. . . . . | 07. g.14967
CTGAAGGATGCTGCCCTTTTCCACAGCGACGACACTGACCACTGCAGCTTCTCCACT | GTT c.600
L K D A A L F H S D D T D H C S F S T | V p.200
. . . . . . g.15027
CTATGCAAGGTCTCTGTGGCCGCCTCCCATTTCGCCACCATGACCAACTTCAGCTGGCTG c.660
L C K V S V A A S H F A T M T N F S W L p.220
. . . . . . g.15087
TTGGCAGAAGCCGTCTACCTGAACTGCCTCCTGGCCTCCACCTCCCCCAGCTCAAGGAGA c.720
L A E A V Y L N C L L A S T S P S S R R p.240
. . . | 08 . . . g.15437
GCCTTCTGGTGGCTGGTTCTCGCTGGCTGGG | GGCTGCCCGTGCTCTTCACTGGCACGTGG c.780
A F W W L V L A G W G | L P V L F T G T W p.260
. . . | 09 . . . g.15978
GTGAGCTGCAAACTGGCCTTCGAGGACATCGC | GTGCTGGGACCTGGACGACACCTCCCCC c.840
V S C K L A F E D I A | C W D L D D T S P p.280
. . . . | 10 . . g.16774
TACTGGTGGATCATCAAAGGGCCCATTGTCCTCTCGGTCGGG | GTGAACTTTGGGCTTTTT c.900
Y W W I I K G P I V L S V G | V N F G L F p.300
. . . . . . g.16834
CTCAATATTATCCGCATCCTGGTGAGGAAACTGGAGCCAGCTCAGGGCAGCCTCCATACC c.960
L N I I R I L V R K L E P A Q G S L H T p.320
. | 11 . . . . . g.17454
CAGTCTCAGTATTG | GCGTCTCTCCAAGTCGACACTTTTCCTGATCCCACTCTTTGGAATT c.1020
Q S Q Y W | R L S K S T L F L I P L F G I p.340
. . . . . . g.17514
CACTACATCATCTTCAACTTCCTGCCAGACAATGCTGGCCTGGGCATCCGCCTCCCCCTG c.1080
H Y I I F N F L P D N A G L G I R L P L p.360
. . | 12 . . . . g.18296
GAGCTGGGACTGGGTTCCTTCCAG | GGCTTCATTGTTGCCATCCTCTACTGCTTCCTCAAC c.1140
E L G L G S F Q | G F I V A I L Y C F L N p.380
| 13 . . . . . . g.20152
CAAGAG | GTGAGGACTGAGATCTCACGGAAGTGGCATGGCCATGACCCTGAGCTTCTGCCA c.1200
Q E | V R T E I S R K W H G H D P E L L P p.400
. . . . . . g.20212
GCCTGGAGGACCCGTGCTAAGTGGACCACGCCTTCCCGCTCGGCGGCAAAGGTGCTGACA c.1260
A W R T R A K W T T P S R S A A K V L T p.420
. g.20224
TCTATGTGCTAG c.1272
S M C X p.423
. . . . . . g.20284
gctgcctcatcacgccactggagtccacacttgaatttgggcagctaccacgggtctgcc c.*60
. . . . . . g.20344
atgctctggaggagcaagggggccacatccccaccccagctgttacccagcccggggcag c.*120
. . . . . . g.20404
gtgcagcccttcctccctgtctctgcatctgactctcttttgaggtccctgtatgtctac c.*180
. . . . . . g.20464
ctctgacttctgtggtccctctgtgtctgctctcatccattcctcttactggggcctggg c.*240
. . . . g.20511
gctctagcccaaggctcagaggagccaataaacctgtaaatgaatag c.*287
(downstream sequence)
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