(used for variant description)
(last modified December 19, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_005276.3 in the GPD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032168.1, covering GPD1 transcript NM_005276.3.
(upstream sequence)
. . . . . g.5052
agaaaaagctgggcctagtctctgccccattcctgttccacacctgtctgta c.-181
. . . . . . g.5112
cccctgtctctcctttccctggctctgccagactctctatctccctgggcgccagcctcc c.-121
. . . . . . g.5172
ccacccacccctggagggcggggcttggctgcacccacgtgtggtggagttaaatgctcc c.-61
. . . . . . g.5232
tagccggcagaggagctagggagtgtggcactgagccggctcaggcagagacgcggcacc c.-1
. . . . | 02 . . g.5774
ATGGCTAGCAAGAAAGTCTGCATTGTAGGCTCCGGGAACTG | GGGCTCAGCCATCGCCAAG c.60
M A S K K V C I V G S G N W | G S A I A K p.20
. . . . . . g.5834
ATCGTGGGTGGCAATGCAGCCCAGCTGGCACAGTTTGACCCACGGGTGACCATGTGGGTA c.120
I V G G N A A Q L A Q F D P R V T M W V p.40
. . . . . . g.5894
TTTGAGGAAGACATTGGAGGCAAAAAGCTGACTGAGATCATCAACACGCAGCATGAGAAT c.180
F E E D I G G K K L T E I I N T Q H E N p.60
. . . | 03 . . g.6750
GTCAAATACCTGCCAGGGCACAAGTTGCCCCCAAATGTG | GTGGCTGTCCCAGATGTGGTC c.240
V K Y L P G H K L P P N V | V A V P D V V p.80
. . . . . . g.6810
CAGGCTGCAGAGGATGCTGACATCCTGATCTTTGTGGTGCCCCATCAGTTCATCGGCAAG c.300
Q A A E D A D I L I F V V P H Q F I G K p.100
. . . . . . g.6870
ATCTGTGACCAGCTCAAGGGCCATCTGAAGGCAAACGCCACTGGCATATCTCTTATTAAG c.360
I C D Q L K G H L K A N A T G I S L I K p.120
| 04 . . . . . . g.7529
| GGGGTAGACGAGGGCCCCAATGGGCTGAAGCTCATCTCGGAAGTGATTGGGGAGCGCCTC c.420
| G V D E G P N G L K L I S E V I G E R L p.140
. . . . . . g.7589
GGCATCCCCATGAGTGTGCTGATGGGGGCCAACATTGCCAGCGAGGTGGCTGATGAGAAG c.480
G I P M S V L M G A N I A S E V A D E K p.160
. | 05 . . . . g.8027
TTCTGTGAGACAACCATTG | GCTGCAAGGACCCGGCCCAGGGACAACTCCTGAAAGAGCTG c.540
F C E T T I G | C K D P A Q G Q L L K E L p.180
. . . . . . g.8087
ATGCAGACACCAAACTTCCGTATCACAGTGGTGCAAGAGGTGGACACAGTAGAGATCTGT c.600
M Q T P N F R I T V V Q E V D T V E I C p.200
. | 06 . . . . . g.8796
GGAGCCTTAAAG | AATGTAGTGGCCGTGGGGGCTGGCTTCTGTGATGGCCTGGGCTTTGGC c.660
G A L K | N V V A V G A G F C D G L G F G p.220
. . . . . . g.8856
GACAACACCAAGGCGGCAGTGATCCGGCTGGGACTCATGGAGATGATAGCCTTCGCCAAG c.720
D N T K A A V I R L G L M E M I A F A K p.240
. . . . . . g.8916
CTCTTCTGCAGTGGCCCTGTGTCCTCTGCCACCTTCTTGGAGAGCTGTGGTGTTGCTGAC c.780
L F C S G P V S S A T F L E S C G V A D p.260
. . . . . . g.8976
CTGATCACTACCTGCTATGGAGGGCGGAACCGGAAAGTGGCTGAGGCCTTTGCGCGTACA c.840
L I T T C Y G G R N R K V A E A F A R T p.280
| 07 . . . . . . g.9259
GGAAAG | TCCATTGAGCAGCTGGAGAAAGAGTTGCTGAATGGGCAGAAACTGCAGGGGCCC c.900
G K | S I E Q L E K E L L N G Q K L Q G P p.300
. . . . . | 08 . g.10611
GAGACAGCCCGGGAGCTATACAGCATCCTCCAGCACAAGGGCCTGGTAGACAA | GTTTCCC c.960
E T A R E L Y S I L Q H K G L V D K | F P p.320
. . . . . . g.10671
TTGTTCATGGCTGTGTACAAGGTGTGCTACGAGGGCCAGCCAGTGGGTGAATTCATCCAC c.1020
L F M A V Y K V C Y E G Q P V G E F I H p.340
. . . g.10701
TGCCTGCAGAATCATCCAGAACATATGTGA c.1050
C L Q N H P E H M X p.349
. . . . . . g.10761
gtggggccagggcccaggccaggccgcttttttaccccagtggagaccagcagaagcctg c.*60
. . . . . . g.10821
gggtacctagtcaccaggatctccaggactcccagggagcagagtcttctcatcttttca c.*120
. . . . . . g.10881
ctggaggacaggaggctatggggcccagctacgcacctggagatcctgaactgtcaagcc c.*180
. . . . . . g.10941
actggcagcctcatgccaccacatttgccagaaatgcagttgccctgtccctctccagat c.*240
. . . . . . g.11001
gtggggctttctccatatcctctgggaggggtggaatcaagccccagtgctgcctgcttg c.*300
. . . . . . g.11061
gtggcgggggtgatgtatgtggagaagggttgggggagaggccggtagggcaggggctgc c.*360
. . . . . . g.11121
tagtggctgtctcacatacaccagtaatcctgttaaagggctgaagaagtatcttagcca c.*420
. . . . . . g.11181
caggagcgatgaggcaaggattgtcagggaggggtctgggcttctgagctgatgcaggcc c.*480
. . . . . . g.11241
ccaaggacccctttgctgacctctgccaggacccacacagcttcgatggatctcagtgtt c.*540
. . . . . . g.11301
tgttaacaaaatacaaagatctcaaacaaaccccttttagcttctcctagcaacatctgt c.*600
. . . . . . g.11361
gtcctcagaaacctctggttctcccccttccccctcccccaggctgccctggcacccaaa c.*660
. . . . . . g.11421
ttgctgccatgctggcatctgtagctcggtggcttgacattctccccagggacttcccgg c.*720
. . . . . . g.11481
ttcctagttctttgccagctcctccccactctgtgcgacctttccaagccttccctcacc c.*780
. . . . . . g.11541
ctccccgccagcaccctctttggggagcaggaacttaatctgctgacagagctacacctt c.*840
. . . . . . g.11601
tcataacaggctcagatcactcagctccctgtgacctttgtattcacccaggcttccttc c.*900
. . . . . . g.11661
tcagtagctctagctgggggaggtgtcagctgggcccctcctgtgctatctccccagagg c.*960
. . . . . . g.11721
acatccctgactccacccctttcttcctcccaaactctgcacctcttcctcagctgctcc c.*1020
. . . . . . g.11781
agaccggccagggtaaccagctaaccatgcctggcatctggaagccagcaggccagaggg c.*1080
. . . . . . g.11841
tggcccaaaggctgatgaacggtagggaagggtgagcagattcctatgttggtgggcacc c.*1140
. . . . . . g.11901
aatattccaagggcagctctctttgctgaatgagggccttctcgtgaggtactgacaaca c.*1200
. . . . . . g.11961
ccagcaactcgagagctgggaaactcaaggaggaggaagaaaatcaaaaccaccctactc c.*1260
. . . . . . g.12021
cctggggtgaggaaagaacaggaggggaggaggaggagtgtgctctgcacttgccttgct c.*1320
. . . . . . g.12081
ccaggatggggtggcagcagaggaatgtcacaggtcagcagcctaggcctccagctataa c.*1380
. . . . . . g.12141
atagtccggagggcccgagaggctcccgcccgtccagcagggctgtcagcttcctgtgtg c.*1440
. . . . . . g.12201
gcagcacctggcacactggctctggccagcattatgctaaaaccctgttactctccaatg c.*1500
. . . . . . g.12261
aaccagggaggcgggctcctctctgcgcctatcccttgagaattctgtcttaccagtgaa c.*1560
. . . . . . g.12321
gggtggggctgcccagatcaggcagcaggagtgaggggcacagtcaccccaggccttgct c.*1620
. . . . . . g.12381
gagcccaggtctgggtactgagtgtccagagctgcctccccaggaggttaaggtgggggc c.*1680
. . . . . . g.12441
aaaggggaagcttcaagcactttgcctacttttgttcactccccagtgcactgtgactca c.*1740
. . . . . . g.12501
ggccttcccatcaggcctatttgtctacccaataaagcgtgttttttccagaaacaagaa c.*1800
g.12502
g c.*1801
(downstream sequence)
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