(used for variant description)
(last modified November 20, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_002055.4 in the GFAP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering GFAP transcript NM_002055.4.
(upstream sequence)
g.5006
atcgcc c.-61
. . . . . . g.5066
agtctagcccactccttcataaagccctcgcatcccaggagcgagcagagccagagcagg c.-1
. . . . . . g.5126
ATGGAGAGGAGACGCATCACCTCCGCTGCTCGCCGCTCCTACGTCTCCTCAGGGGAGATG c.60
M E R R R I T S A A R R S Y V S S G E M p.20
. . . . . . g.5186
ATGGTGGGGGGCCTGGCTCCTGGCCGCCGTCTGGGTCCTGGCACCCGCCTCTCCCTGGCT c.120
M V G G L A P G R R L G P G T R L S L A p.40
. . . . . . g.5246
CGAATGCCCCCTCCACTCCCGACCCGGGTGGATTTCTCCCTGGCTGGGGCACTCAATGCT c.180
R M P P P L P T R V D F S L A G A L N A p.60
. . . . . . g.5306
GGCTTCAAGGAGACCCGGGCCAGTGAGCGGGCAGAGATGATGGAGCTCAATGACCGCTTT c.240
G F K E T R A S E R A E M M E L N D R F p.80
. . . . . . g.5366
GCCAGCTACATCGAGAAGGTTCGCTTCCTGGAACAGCAAAACAAGGCGCTGGCTGCTGAG c.300
A S Y I E K V R F L E Q Q N K A L A A E p.100
. . . . . . g.5426
CTGAACCAGCTGCGGGCCAAGGAGCCCACCAAGCTGGCAGACGTCTACCAGGCTGAGCTG c.360
L N Q L R A K E P T K L A D V Y Q A E L p.120
. . . . . . g.5486
CGAGAGCTGCGGCTGCGGCTCGATCAACTCACCGCCAACAGCGCCCGGCTGGAGGTTGAG c.420
R E L R L R L D Q L T A N S A R L E V E p.140
. . . . | 02 . . g.6483
AGGGACAATCTGGCACAGGACCTGGCCACTGTGAGGCAGAA | GCTCCAGGATGAAACCAAC c.480
R D N L A Q D L A T V R Q K | L Q D E T N p.160
. . . . | 03 . . g.6747
CTGAGGCTGGAAGCCGAGAACAACCTGGCTGCCTATAGACAG | GAAGCAGATGAAGCCACC c.540
L R L E A E N N L A A Y R Q | E A D E A T p.180
. . . . . . g.6807
CTGGCCCGTCTGGATCTGGAGAGGAAGATTGAGTCGCTGGAGGAGGAGATCCGGTTCTTG c.600
L A R L D L E R K I E S L E E E I R F L p.200
. | 04 . . . . g.7164
AGGAAGATCCACGAGGAG | GAGGTTCGGGAACTCCAGGAGCAGCTGGCCCGACAGCAGGTC c.660
R K I H E E | E V R E L Q E Q L A R Q Q V p.220
. . . . . . g.7224
CATGTGGAGCTTGACGTGGCCAAGCCAGACCTCACCGCAGCCCTGAAAGAGATCCGCACG c.720
H V E L D V A K P D L T A A L K E I R T p.240
. . . . . . g.7284
CAGTATGAGGCAATGGCGTCCAGCAACATGCATGAAGCCGAAGAGTGGTACCGCTCCAAG c.780
Q Y E A M A S S N M H E A E E W Y R S K p.260
| 05 . . . . . . g.8815
| TTTGCAGACCTGACAGACGCTGCTGCCCGCAACGCGGAGCTGCTCCGCCAGGCCAAGCAC c.840
| F A D L T D A A A R N A E L L R Q A K H p.280
. . . . . . g.8875
GAAGCCAACGACTACCGGCGCCAGTTGCAGTCCTTGACCTGCGACCTGGAGTCTCTGCGC c.900
E A N D Y R R Q L Q S L T C D L E S L R p.300
| 06 . . . . . . g.9150
GGCACG | AACGAGTCCCTGGAGAGGCAGATGCGCGAGCAGGAGGAGCGGCACGTGCGGGAG c.960
G T | N E S L E R Q M R E Q E E R H V R E p.320
. . . . . . g.9210
GCGGCCAGTTATCAGGAGGCGCTGGCGCGGCTGGAGGAAGAGGGGCAGAGCCTCAAGGAC c.1020
A A S Y Q E A L A R L E E E G Q S L K D p.340
. . . . . . g.9270
GAGATGGCCCGCCACTTGCAGGAGTACCAGGACCTGCTCAATGTCAAGCTGGCCCTGGAC c.1080
E M A R H L Q E Y Q D L L N V K L A L D p.360
. . . . | 07. . g.9907
ATCGAGATCGCCACCTACAGGAAGCTGCTAGAGGGCGAGGAGAACCG | GATCACCATTCCC c.1140
I E I A T Y R K L L E G E E N R | I T I P p.380
. . . | 08 . . . g.12432
GTGCAGACCTTCTCCAACCTGCAGATTCGAG | AAACCAGCCTGGACACCAAGTCTGTGTCA c.1200
V Q T F S N L Q I R E | T S L D T K S V S p.400
. . . . . | 09. g.13167
GAAGGCCACCTCAAGAGGAACATCGTGGTGAAGACCGTGGAGATGCGGGATGGAGAG | GTC c.1260
E G H L K R N I V V K T V E M R D G E | V p.420
. . . g.13206
ATTAAGGAGTCCAAGCAGGAGCACAAGGATGTGATGTGA c.1299
I K E S K Q E H K D V M X p.432
. . . . . . g.13266
ggcaggacccacctggtggcctctgccccgtctcatgaggggcccgagcagaagcaggat c.*60
. . . . . . g.13326
agttgctccgcctctgctggcacatttccccagacctgagctccccaccaccccagctgc c.*120
. . . . . . g.13386
tcccctccctcctctgtccctaggtcagcttgctgccctaggctccgtcagtatcaggcc c.*180
. . . . . . g.13446
tgccagacggcacccacccagcacccagcaactccaactaacaagaaactcacccccaag c.*240
. . . . . . g.13506
gggcagtctggaggggcatggccagcagcttgcgttagaatgaggaggaaggagagaagg c.*300
. . . . . . g.13566
ggaggagggcggggggcacctactacatcgccctccacatccctgattcctgttgttatg c.*360
. . . . . . g.13626
gaaactgttgccagagatggaggttctctcggagtatctgggaactgtgcctttgagttt c.*420
. . . . . . g.13686
cctcaggctgctggaggaaaactgagactcagacaggaaagggaaggccccacagacaag c.*480
. . . . . . g.13746
gtagccctggccagaggcttgttttgtcttttggtttttatgaggtgggatatccctatg c.*540
. . . . . . g.13806
ctgcctaggctgaccttgaactcctgggctcaagcagtctacccacctcagcctcctgtg c.*600
. . . . . . g.13866
tagctgggattatagattggagccaccatgcccagctcagagggttgttctcctagactg c.*660
. . . . . . g.13926
accctgatcagtctaagatgggtggggacgtcctgccacctggggcagtcacctgcccag c.*720
. . . . . . g.13986
atcccagaaggacctcctgagcgatgactcaagtgtctcagtccacctgagctgccatcc c.*780
. . . . . . g.14046
agggatgccatctgtgggcacgctgtgggcaggtgggagcttgattctcagcacttgggg c.*840
. . . . . . g.14106
gatctgttgtgtacgtggagagggatgaggtgctgggagggatagaggggggctgcctgg c.*900
. . . . . . g.14166
cccccagctgtgggtacagagaggtcaagcccaggaggactgccccgtgcagactggagg c.*960
. . . . . . g.14226
ggacgctggtagagatggaggaggaggcaattgggatggcgctaggcatacaagtagggg c.*1020
. . . . . . g.14286
ttgtgggtgaccagttgcacttggcctctggattgtgggaattaaggaagtgactcatcc c.*1080
. . . . . . g.14346
tcttgaagatgctgaaacaggagagaaaggggatgtatccatgggggcagggcatgactt c.*1140
. . . . . . g.14406
tgtcccatttctaaaggcctcttccttgctgtgtcataccaggccgccccagcctctgag c.*1200
. . . . . . g.14466
cccctgggactgctgcttcttaaccccagtaagccactgccacacgtctgaccctctcca c.*1260
. . . . . . g.14526
ccccatagtgaccggctgcttttccctaagccaagggcctcttgcggtcccttcttactc c.*1320
. . . . . . g.14586
acacacaaaatgtacccagtattctaggtagtgccctattttacaattgtaaaactgagg c.*1380
. . . . . . g.14646
cacgagcaaagtgaagacactggctcatattcctgcagcctggaggccgggtgctcaggg c.*1440
. . . . . . g.14706
ctgacacgtccaccccagtgcacccactctgctttgactgagcagactggtgagcagact c.*1500
. . . . . . g.14766
ggtgggatctgtgcccagagatgggactgggagggcccacttcagggttctcctctcccc c.*1560
. . . . . . g.14826
tctaaggccgaagaagggtccttccctctccccaagacttggtgtcctttccctccactc c.*1620
. . . . . . g.14886
cttcctgccacctgctgctgctgctgctgctaatcttcagggcactgctgctgcctttag c.*1680
. . . . g.14927
tcgctgaggaaaaataaagacaaatgctgcgcccttcccca c.*1721
(downstream sequence)
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