(used for variant description)
(last modified September 19, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_015141.3 in the GPD1L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023375.1, covering GPD1L transcript NM_015141.3.
(upstream sequence)
. . g.5021
gcagtggttcttgggagtggc c.-181
. . . . . . g.5081
gaagcgggtcctgccccgctgtcagctgcggcccccggcgccgggcgggggtggccgcga c.-121
. . . . . . g.5141
ccattggcggagaggcgaaaggggcggggccgccgccagccgctgcgggcaaggctgaac c.-61
. . . . . . g.5201
aggcggaggtgggcagccggccagggaagcacggtccaggcggctacattcggcccggcc c.-1
. . . . | 02. . g.26578
ATGGCAGCGGCGCCCCTGAAAGTGTGCATCGTGGGCTCGGGGAACTG | GGGTTCAGCTGTT c.60
M A A A P L K V C I V G S G N W | G S A V p.20
. . . . . . g.26638
GCAAAAATAATTGGTAATAATGTCAAGAAACTTCAGAAATTTGCCTCCACAGTCAAGATG c.120
A K I I G N N V K K L Q K F A S T V K M p.40
. . . . . . g.26698
TGGGTCTTTGAAGAAACAGTGAATGGCAGAAAACTGACAGACATCATAAATAATGACCAT c.180
W V F E E T V N G R K L T D I I N N D H p.60
. . . . | 03 . . g.37091
GAAAATGTAAAATATCTTCCTGGACACAAGCTGCCAGAAAATGTG | GTTGCCATGTCAAAT c.240
E N V K Y L P G H K L P E N V | V A M S N p.80
. . . . . . g.37151
CTTAGCGAGGCTGTGCAGGATGCAGACCTGCTGGTGTTTGTCATTCCCCACCAGTTCATT c.300
L S E A V Q D A D L L V F V I P H Q F I p.100
. . . . . . g.37211
CACAGAATCTGTGATGAGATCACTGGGAGAGTGCCCAAGAAAGCGCTGGGAATCACCCTC c.360
H R I C D E I T G R V P K K A L G I T L p.120
| 04 . . . . . . g.38771
ATCAAG | GGCATAGACGAGGGCCCCGAGGGGCTGAAGCTCATTTCTGACATCATCCGTGAG c.420
I K | G I D E G P E G L K L I S D I I R E p.140
. . . . . . g.38831
AAGATGGGTATTGACATCAGTGTGCTGATGGGAGCCAACATTGCCAATGAGGTGGCTGCA c.480
K M G I D I S V L M G A N I A N E V A A p.160
. . | 05 . . . . g.45146
GAGAAGTTCTGTGAGACCACCATCG | GCAGCAAAGTAATGGAGAACGGCCTTCTCTTCAAA c.540
E K F C E T T I G | S K V M E N G L L F K p.180
. . . . . . g.45206
GAACTTCTGCAGACTCCAAATTTTCGAATTACCGTGGTTGATGATGCAGACACTGTTGAA c.600
E L L Q T P N F R I T V V D D A D T V E p.200
. | 06 . . . . g.57407
CTCTGTGGTGCGCTTAAG | AACATCGTAGCTGTGGGAGCTGGGTTCTGCGACGGCCTCCGC c.660
L C G A L K | N I V A V G A G F C D G L R p.220
. . . . . . g.57467
TGTGGAGACAACACCAAAGCGGCCGTCATCCGCCTGGGACTCATGGAAATGATTGCTTTT c.720
C G D N T K A A V I R L G L M E M I A F p.240
. . . . . . g.57527
GCCAGGATCTTCTGCAAAGGCCAAGTGTCTACAGCCACCTTCCTAGAGAGCTGCGGGGTG c.780
A R I F C K G Q V S T A T F L E S C G V p.260
. . . . . . g.57587
GCCGACCTGATCACCACCTGTTACGGAGGGCGGAACCGCAGGGTGGCCGAGGCCTTCGCC c.840
A D L I T T C Y G G R N R R V A E A F A p.280
. | 07 . . . . . g.58105
AGAACTGGGAAG | ACCATTGAAGAGTTGGAGAAGGAGATGCTGAATGGGCAAAAGCTCCAA c.900
R T G K | T I E E L E K E M L N G Q K L Q p.300
. . . . . | 08 g.64304
GGACCGCAGACTTCTGCTGAAGTGTACCGCATCCTCAAACAGAAGGGACTACTGGACAA | G c.960
G P Q T S A E V Y R I L K Q K G L L D K | p.320
. . . . . . g.64364
TTTCCATTGTTTACTGCAGTGTATCAGATCTGCTACGAAAGCAGACCAGTTCAAGAGATG c.1020
F P L F T A V Y Q I C Y E S R P V Q E M p.340
. . . g.64400
TTGTCTTGTCTTCAGAGCCATCCAGAGCATACATAA c.1056
L S C L Q S H P E H T X p.351
. . . . . . g.64460
agtgaatcatgcaacgtgttgggggaagttctgcctttctgatcaatcttttgggttcac c.*60
. . . . . . g.64520
gtggaaaccaggacttggcaacatgatgtttgactgtaatctcatcacggatatgtatga c.*120
. . . . . . g.64580
atttttacaggttcgtttttgaattgtgagaggcagttcattagcaaagatgtactgggc c.*180
. . . . . . g.64640
agtaactaaacacacatgcaaacatgtgaatggtggtttattcctcattctgtggatgtt c.*240
. . . . . . g.64700
tctatgagccaaaatttgatgtctttttttcaaaattgcttatgaaatttccacacaatc c.*300
. . . . . . g.64760
gtagcttataagattggaacgatctcagccaaatattttaggtgtaattcatatgtattt c.*360
. . . . . . g.64820
gagtggaggattttttttctcatttttctagtgttaaattttaaccagcattaacatggt c.*420
. . . . . . g.64880
agagtggaggagtgagtgtgttcaaagatcaacatatttaacttttaaacactatctcaa c.*480
. . . . . . g.64940
agccagcataattaactactttgattgtgggctgacctttgtttttttaacaatcaggca c.*540
. . . . . . g.65000
tttttaattagataatccactcatgtatttccccctcactgcagttgtctgcatttttag c.*600
. . . . . . g.65060
cctcttttctcttcgttagttgtcagaatatgccttcgtcaaggctcagaggtaacaaga c.*660
. . . . . . g.65120
cagaaaattcatctgggattttcctgctgtggctggcacattcttctgattaacagacac c.*720
. . . . . . g.65180
ttgtatgatgctttaggctagttagtgcattttttagcaaacatttatcttaaacatcac c.*780
. . . . . . g.65240
agatccactggggggtgcaaggggctactgttagtcctcttgttagatgcagtcactcct c.*840
. . . . . . g.65300
cctggtcacctagtgagcagggacagagccaggagtcaagtgcagtgccaaggtgcatga c.*900
. . . . . . g.65360
ccctctgagaagtcactgggctgatttgacctccgactcattggttgtgcaaatgccatg c.*960
. . . . . . g.65420
tgcagcctttcctgaggccataggagggcttcctgcagctgagatctatgcaggccatcc c.*1020
. . . . . . g.65480
tctcaacaagtgccactccaagggcggtcctcggtgcagcagcatcagcttcacttgtgg c.*1080
. . . . . . g.65540
gggggtgggggaaggggcggtctcagaaatgcaggttcccaggtcccaccctggacttct c.*1140
. . . . . . g.65600
gaaggggtgtggcatctgtgtttctgatgcttactacaatatgtgaaccactactttaga c.*1200
. . . . . . g.65660
aaatctgctttaacttggtattcctctaattgtgttccctaggaaatgactgtcccaaga c.*1260
. . . . . . g.65720
gccagtgattattccaggtgttccctggaaaggtcaagtgagtctgggaaacactatgtc c.*1320
. . . . . . g.65780
tgtacacctcttgaaggtgtcgaatgtatgtttatacatcagtggaacccatttttctag c.*1380
. . . . . . g.65840
cctagcaagtcccaaacacattacactgaagagattttggtgaggaaacttgctggagtt c.*1440
. . . . . . g.65900
ttcagggaacactgttctaggcttaggtgaccttaggatcactcaagtagacccttcact c.*1500
. . . . . . g.65960
ccctgcgagaaattaggatgaataactacctgtggcattgttggttctgaacttttacag c.*1560
. . . . . . g.66020
ttcaggcctgctgtgaatctttgatgaagctttaaggtgacactgttgtacaagatgtca c.*1620
. . . . . . g.66080
gctttgctgaaacgcacattacctggaataagtgctttaattgtagaattagaatgggat c.*1680
. . . . . . g.66140
ttactgtactgttttaaatgagattggcttcagaatccattacagttaccttacatagca c.*1740
. . . . . . g.66200
cttgatacgtgttaaatgaacatatgaatgtaatttatatattcctagaatttaagttac c.*1800
. . . . . . g.66260
tttgtgagatttgggcctgtccctcaatgccagtttaggatttctttttttctatacctt c.*1860
. . . . . . g.66320
gaaatgattataaaatagattttcatgggaattttaaaaactctatccaaaacatttttg c.*1920
. . . . . . g.66380
gagcattttaaagccccatacacagaagtatacgaaagcacacaaaacactccaagtttc c.*1980
. . . . . . g.66440
agcagttttagcgccaccattaacccactttgcttgtctcatgaaaaatctttgttaaag c.*2040
. . . . . . g.66500
tttgtacacaggtaacaaaaagttactttaaaagatatataaagggctgtaagctaattg c.*2100
. . . . . . g.66560
tggtgtctagtaagtagcataatgagatgtgaggagttggaactttgcgtgttttgcgta c.*2160
. . . . . . g.66620
ttttcatctgcattcagcttcttactctgggtttgtactcgagtgttatttctttacaaa c.*2220
. . . . . . g.66680
tgcccttgtaattaccactctgaagtctgctgactgtgtctcttgaacatacttaggata c.*2280
. . . . . . g.66740
ttctgcacattatggaaaaaggtaaattttagaagtttctgctctactaactgtagatat c.*2340
. . . . . . g.66800
ttatgactctgcgagttatctatttttataaccacctgtggtccattgttcattttaatt c.*2400
. . . . . . g.66860
cacatttcttatgaagtatggtaacagggagggagacacctagattagcagctcaatttg c.*2460
. . . . . . g.66920
tactacttcagccaatctgtgaatgtaaaaactacactgttgccttgctaggatccaccc c.*2520
. . . . . . g.66980
tcctataatatggaacaaatatctgaatgaaatccaccctaggagacggagtcaaactaa c.*2580
. . . . . . g.67040
acttgtggtttttcatttaacttttgactacagcatggccccatggcatccacaccaaga c.*2640
. . . . . . g.67100
gggtgttgtgatgaggtgccggtgtgcaaagggaactttagtttttccactggttcttat c.*2700
. . . . . . g.67160
ctgctagccttttacatacatgtgtactatatttgtttatagactgtaggtggatatata c.*2760
. . . . g.67205
atttaaaagcttgatttaataaacatttaaccccctaaacttgca c.*2805
(downstream sequence)
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