(used for variant description)
(last modified April 3, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_002087.2 in the GRN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007886.1, covering GRN transcript NM_002087.2.
(upstream sequence)
. . . g.5039
ggcgagaggaagcagggaggagagtgatttgagtagaaa c.-181
. . . . . . g.5099
agaaacacagcattccaggctggccccacctctatattgataagtagccaatgggagcgg c.-121
. . . . . . g.5159
gtagccctgatccctggccaatggaaactgaggtaggcgggtcatcgcgctggggtctgt c.-61
. . . . . . | 02 g.9042
agtctgagcgctacccggttgctgctgcccaaggaccgcggagtcggacgcag | gcagacc c.-1
. . . . . . g.9102
ATGTGGACCCTGGTGAGCTGGGTGGCCTTAACAGCAGGGCTGGTGGCTGGAACGCGGTGC c.60
M W T L V S W V A L T A G L V A G T R C p.20
. . . . . . g.9162
CCAGATGGTCAGTTCTGCCCTGTGGCCTGCTGCCTGGACCCCGGAGGAGCCAGCTACAGC c.120
P D G Q F C P V A C C L D P G G A S Y S p.40
. | 03 . . . . g.9345
TGCTGCCGTCCCCTTCTG | GACAAATGGCCCACAACACTGAGCAGGCATCTGGGTGGCCCC c.180
C C R P L L | D K W P T T L S R H L G G P p.60
. . . . . . g.9405
TGCCAGGTTGATGCCCACTGCTCTGCCGGCCACTCCTGCATCTTTACCGTCTCAGGGACT c.240
C Q V D A H C S A G H S C I F T V S G T p.80
. . | 04 . . . . g.9580
TCCAGTTGCTGCCCCTTCCCAGAG | GCCGTGGCATGCGGGGATGGCCATCACTGCTGCCCA c.300
S S C C P F P E | A V A C G D G H H C C P p.100
. . . . | 05 . g.10116
CGGGGCTTCCACTGCAGTGCAGACGGGCGATCCTGCTTCCAAAGATCAG | GTAACAACTCC c.360
R G F H C S A D G R S C F Q R S G | N N S p.120
. . . . . . g.10176
GTGGGTGCCATCCAGTGCCCTGATAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGT c.420
V G A I Q C P D S Q F E C P D F S T C C p.140
. . . . | 06 . . g.10337
GTTATGGTCGATGGCTCCTGGGGGTGCTGCCCCATGCCCCAG | GCTTCCTGCTGTGAAGAC c.480
V M V D G S W G C C P M P Q | A S C C E D p.160
. . . . . . g.10397
AGGGTGCACTGCTGTCCGCACGGTGCCTTCTGCGACCTGGTTCACACCCGCTGCATCACA c.540
R V H C C P H G A F C D L V H T R C I T p.180
. . . . . | 07 g.10570
CCCACGGGCACCCACCCCCTGGCAAAGAAGCTCCCTGCCCAGAGGACTAACAGGGCAG | TG c.600
P T G T H P L A K K L P A Q R T N R A V | p.200
. . . . . . g.10630
GCCTTGTCCAGCTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATGGTTCTACC c.660
A L S S S V M C P D A R S R C P D G S T p.220
. . . . | 08 . g.10926
TGCTGTGAGCTGCCCAGTGGGAAGTATGGCTGCTGCCCAATGCCCAAC | GCCACCTGCTGC c.720
C C E L P S G K Y G C C P M P N | A T C C p.240
. . . . . . g.10986
TCCGATCACCTGCACTGCTGCCCCCAAGACACTGTGTGTGACCTGATCCAGAGTAAGTGC c.780
S D H L H C C P Q D T V C D L I Q S K C p.260
. . . . . | 09 . g.11245
CTCTCCAAGGAGAACGCTACCACGGACCTCCTCACTAAGCTGCCTGCGCACACAG | TGGGG c.840
L S K E N A T T D L L T K L P A H T V | G p.280
. . . . . . g.11305
GATGTGAAATGTGACATGGAGGTGAGCTGCCCAGATGGCTATACCTGCTGCCGTCTACAG c.900
D V K C D M E V S C P D G Y T C C R L Q p.300
. . . | 10 . . . g.11454
TCGGGGGCCTGGGGCTGCTGCCCTTTTACCCAG | GCTGTGTGCTGTGAGGACCACATACAC c.960
S G A W G C C P F T Q | A V C C E D H I H p.320
. . . . . . g.11514
TGCTGTCCCGCGGGGTTTACGTGTGACACGCAGAAGGGTACCTGTGAACAGGGGCCCCAC c.1020
C C P A G F T C D T Q K G T C E Q G P H p.340
. . . . . . g.11574
CAGGTGCCCTGGATGGAGAAGGCCCCAGCTCACCTCAGCCTGCCAGACCCACAAGCCTTG c.1080
Q V P W M E K A P A H L S L P D P Q A L p.360
. . . . . . g.11634
AAGAGAGATGTCCCCTGTGATAATGTCAGCAGCTGTCCCTCCTCCGATACCTGCTGCCAA c.1140
K R D V P C D N V S S C P S S D T C C Q p.380
. . . | 11 . . g.11913
CTCACGTCTGGGGAGTGGGGCTGCTGTCCAATCCCAGAG | GCTGTCTGCTGCTCGGACCAC c.1200
L T S G E W G C C P I P E | A V C C S D H p.400
. . . . . . g.11973
CAGCACTGCTGCCCCCAGGGCTACACGTGTGTAGCTGAGGGGCAGTGTCAGCGAGGAAGC c.1260
Q H C C P Q G Y T C V A E G Q C Q R G S p.420
. . . . . . g.12033
GAGATCGTGGCTGGACTGGAGAAGATGCCTGCCCGCCGGGCTTCCTTATCCCACCCCAGA c.1320
E I V A G L E K M P A R R A S L S H P R p.440
. . . . . . g.12093
GACATCGGCTGTGACCAGCACACCAGCTGCCCGGTGGGGCAGACCTGCTGCCCGAGCCTG c.1380
D I G C D Q H T S C P V G Q T C C P S L p.460
. . . | 12 . . . g.12245
GGTGGGAGCTGGGCCTGCTGCCAGTTGCCCCAT | GCTGTGTGCTGCGAGGATCGCCAGCAC c.1440
G G S W A C C Q L P H | A V C C E D R Q H p.480
. . . . . . g.12305
TGCTGCCCGGCTGGCTACACCTGCAACGTGAAGGCTCGATCCTGCGAGAAGGAAGTGGTC c.1500
C C P A G Y T C N V K A R S C E K E V V p.500
. . . . . . g.12365
TCTGCCCAGCCTGCCACCTTCCTGGCCCGTAGCCCTCACGTGGGTGTGAAGGACGTGGAG c.1560
S A Q P A T F L A R S P H V G V K D V E p.520
. . . . . . g.12425
TGTGGGGAAGGACACTTCTGCCATGATAACCAGACCTGCTGCCGAGACAACCGACAGGGC c.1620
C G E G H F C H D N Q T C C R D N R Q G p.540
. . | 13 . . . . g.12574
TGGGCCTGCTGTCCCTACCGCCAG | GGCGTCTGTTGTGCTGATCGGCGCCACTGCTGTCCT c.1680
W A C C P Y R Q | G V C C A D R R H C C P p.560
. . . . . . g.12634
GCTGGCTTCCGCTGCGCAGCCAGGGGTACCAAGTGTTTGCGCAGGGAGGCCCCGCGCTGG c.1740
A G F R C A A R G T K C L R R E A P R W p.580
. . . . g.12676
GACGCCCCTTTGAGGGACCCAGCCTTGAGACAGCTGCTGTGA c.1782
D A P L R D P A L R Q L L X p.593
. . . . . . g.12736
gggacagtactgaagactctgcagccctcgggaccccactcggagggtgccctctgctca c.*60
. . . . . . g.12796
ggcctccctagcacctccccctaaccaaattctccctggaccccattctgagctccccat c.*120
. . . . . . g.12856
caccatgggaggtggggcctcaatctaaggccttccctgtcagaagggggttgtggcaaa c.*180
. . . . . . g.12916
agccacattacaagctgccatcccctccccgtttcagtggaccctgtggccaggtgcttt c.*240
. . . . . . g.12976
tccctatccacaggggtgtttgtgtgtgtgcgcgtgtgcgtttcaataaagtttgtacac c.*300
g.12980
tttc c.*304
(downstream sequence)
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