(used for variant description)
(last modified July 21, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_182569.3 in the GDPD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering GDPD1 transcript NM_182569.3.
(upstream sequence)
. . g.5023
ccggcaccgacaagtgcgctgca c.-121
. . . . . . g.5083
ccagtggcaccggctgggggcgagccgacctcgagcagccgccgccgccgccgtcgttgc c.-61
. . . . . . g.5143
tactgccgcagcggagttcagagggcccggaggtgggagacttcccacacggtgactgag c.-1
. . . . . . g.5203
ATGTCGTCCACTGCGGCTTTTTACCTTCTCTCTACGCTAGGAGGATACTTGGTGACCTCA c.60
M S S T A A F Y L L S T L G G Y L V T S p.20
. . . . . . g.5263
TTCTTGTTGCTTAAATACCCGACCTTGCTGCACCAGAGAAAGAAGCAGCGATTCCTCAGT c.120
F L L L K Y P T L L H Q R K K Q R F L S p.40
. . | 02 . . . . g.19063
AAACACATCTCTCACCGCGGAG | GTGCTGGAGAAAATTTGGAGAATACAATGGCAGCCTTT c.180
K H I S H R G G | A G E N L E N T M A A F p.60
| 03 . . . . . . g.30002
CAGCA | TGCGGTTAAAATCGGAACTGATATGCTAGAATTGGACTGCCATATCACAAAAGAT c.240
Q H | A V K I G T D M L E L D C H I T K D p.80
. . . . . . g.30062
GAACAAGTTGTAGTGTCACATGATGAGAATCTAAAGAGAGCAACTGGGGTCAATGTAAAC c.300
E Q V V V S H D E N L K R A T G V N V N p.100
. . | 04 . . . . g.33312
ATCTCTGATCTCAAATACTGT | GAGCTCCCACCTTACCTTGGCAAACTGGATGTCTCATTT c.360
I S D L K Y C | E L P P Y L G K L D V S F p.120
| 05. . . . . . g.41708
CAAAGAG | CATGCCAGTGTGAAGGAAAAGATAACCGAATTCCATTACTGAAGGAAGTTTTT c.420
Q R A | C Q C E G K D N R I P L L K E V F p.140
. . . . . . g.41768
GAGGCCTTTCCTAACACTCCCATTAACATCGATATCAAAGTCAACAACAATGTGCTGATT c.480
E A F P N T P I N I D I K V N N N V L I p.160
| 06 . . . . . . g.42338
AAGAAG | GTTTCAGAGTTGGTGAAGCGGTATAATCGAGAACACTTAACAGTGTGGGGTAAT c.540
K K | V S E L V K R Y N R E H L T V W G N p.180
. . . | 07 . . . g.51598
GCCAATTATGAAATTGTAGAAAAGTGCTACAAAGAG | AATTCAGATATTCCTATACTCTTC c.600
A N Y E I V E K C Y K E | N S D I P I L F p.200
. . . . . . g.51658
AGTCTACAACGTGTCCTGCTCATTCTTGGCCTTTTCTTCACTGGCCTCTTGCCCTTTGTG c.660
S L Q R V L L I L G L F F T G L L P F V p.220
. . . . . | 08 . g.55479
CCCATTCGAGAACAGTTTTTTGAAATCCCAATGCCTTCTATTATACTGAA | GCTAAAAGAA c.720
P I R E Q F F E I P M P S I I L K | L K E p.240
. . . . . | 09 . g.57328
CCACACACCATGTCCAGAAGTCAAAAGTTTCTCATCTGGCTTTCTGATCT | CTTACTAATG c.780
P H T M S R S Q K F L I W L S D L | L L M p.260
. . . . | 10 . . g.58202
AGGAAAGCTTTGTTTGACCACCTAACTGCTCGAGGCATTCAA | GTGTATATTTGGGTATTA c.840
R K A L F D H L T A R G I Q | V Y I W V L p.280
. . . . . . g.58262
AATGAAGAACAAGAATACAAAAGAGCTTTTGATTTGGGAGCAACTGGGGTGATGACAGAC c.900
N E E Q E Y K R A F D L G A T G V M T D p.300
. . . . g.58307
TATCCAACAAAGCTTAGGGATTTTTTACATAACTTTTCAGCATAG c.945
Y P T K L R D F L H N F S A X p.314
. . . . . . g.58367
aaaaagaggtacttagaagtattgaaggaaaaaatgaagacctaagaaaaaaatatttca c.*60
. . . . . . g.58427
tgatcatttccctaagccatttccagaatggtaaaaggtttaatcagtttttattacctc c.*120
. . . . . . g.58487
atttttaagcctgtatgagaatgtagaaactatatattatatgtatatttattttaaata c.*180
. . . . . . g.58547
atattgtatattttatgtttgtaaattgtttagaaagataattggttatgagatgtaagt c.*240
. . . . . . g.58607
tttaatttcttaatgtgcatttttgtttctagatcttatacagaaatcttgattaataac c.*300
. . . . . . g.58667
atacacagaaatgtacatactacatcatctacagaaatcttgatcaataacctagaaact c.*360
. . . . . . g.58727
aggttatctaggttattgatcaagatttctgtagatgatgcagtgttctatcataagtaa c.*420
. . . . . . g.58787
ttctggaatcaaagactattggatacatttggcattgggctgagtgtggtggctcatgcc c.*480
. . . . . . g.58847
tgtaatcccagcactttgggaggctgagacaggcggatcatctgaagtcaggagttaaag c.*540
. . . . . . g.58907
accagcctggccaacatggcaaaaccccatctctaccaaaaatacaaaaattaaccatgc c.*600
. . . . . . g.58967
gtggtggtacacgtctgtcatcccagcagctcttaaggctgaggcacaagaattgcttga c.*660
. . . . . . g.59027
acccgggaggcagaggctgtagtgagccaagatagcaccactgcactccagcctgggaga c.*720
. . . . . . g.59087
cagagtgagactccgtctcaaaaaaaaaaaaaaaaaaaaaaaatgggaggccgaggcggg c.*780
. . . . . . g.59147
cggatcacgaggtcaggagatcgagaccatcctggctaacatggtgaaaccccgtctcta c.*840
. . . . . . g.59207
ctaaaaatacaaaaaattagctgggcgtggtggtgggcaccttagtcccagctactcggg c.*900
. . . . . . g.59267
aggctgagtcaggagaatggcgtgaacccgggaggcggagcttgcagtgagccgagatcg c.*960
. . . . . . g.59327
cgccactgcactccagcctgggctacagagcaagactccgtctcaaaaaaagaaaaaaag c.*1020
. . . . . . g.59387
aaaaaaaattggcaatagtcttcactggaatacaatcaattagtaaaagatttttttttt c.*1080
. . . . . . g.59447
ttttttgacatgtagtcttgctctgtcgccgaggccggagtgcagtggtgcgatcttggc c.*1140
. . . . . . g.59507
tcactgcaacctctgcctcccaggttccagcaattctcctgcctctgcctcccgagtacc c.*1200
. . . . . . g.59567
tgggattacaggtgcctgctaccatgcccagctaatttttgtatttttagtagagacagg c.*1260
. . . . . . g.59627
gttttgccacgttggccagactggtctcgaactcctgacctcaggtgatccacccacctc c.*1320
. . . . . . g.59687
ggcctctcaaagtgctgggattacaggtttgaaccactgcacccggccagtaaaagaaat c.*1380
. . . . . . g.59747
tttgaaggccattgcagctatttggtagtgtcttgttatttctaggtgtaccttagttaa c.*1440
. . . . . . g.59807
agaggaaaaataaaacggaaaaaagcttggaaatcagtgatgtgtagttatttggcaagt c.*1500
. . . . . . g.59867
tatacataatcagcagcagccaggctcaagaaaataaaagttgattagttgatcagaaat c.*1560
. . . . . . g.59927
aaaatctgtagagtgaattagatttctgagttgttgttgttaatggaacattctatttga c.*1620
. . . . . . g.59987
gacctttttcaggtgtgtagcaattctaccatgtccatttttttaagcattaaaaaggaa c.*1680
. . . . . . g.60047
cttaccagttgtaaattaagacaagatccaaatagtcatatttttgtgtttcctctaaaa c.*1740
. . . . . . g.60107
aaatgtaagatttccatttttggcactgactaactgagcctacatctagattttaaatac c.*1800
. . . . . . g.60167
catcttgaatcctaataattaaactgatgaaagtgcatatcattgttcctaacatttatg c.*1860
. . . . . . g.60227
aacccccataaagatgttcctgatctttaaaactcattaatctgagtattaagtagaaac c.*1920
. . . . . . g.60287
agaattttccaaagcattagacatcactttctcagtttatctgaggtgacttcgtgtaca c.*1980
. . . . . . g.60347
tctgtttctaatatatttgactaattttcatgatctcagattgtgaggtaaatgtaatct c.*2040
. . . . . . g.60407
ggaataataagtgtcttttacctagattacatctctcatttggagtttggcaatgaaact c.*2100
. . . . . . g.60467
gctatgaagaatgactgtactctcctatctgtccctggatgacataaatatcatttgctt c.*2160
. . . g.60504
tgttgtttaaactgaaataaagttttccaagaacaaa c.*2197
(downstream sequence)
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