(used for variant description)
(last modified February 15, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_030912.2 in the TRIM8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000010.10, covering TRIM8 transcript NM_030912.2.
(upstream sequence)
g.5003
gag c.-121
. . . . . . g.5063
cgaccgtcggggccggctggggccggagctcggggctcggtgggcctacagcggctccgg c.-61
. . . . . . g.5123
acggacccccggggctggggagtcggggaggcctgccccggccccctgcccgcggccgcc c.-1
. . . . . . g.5183
ATGGCGGAGAATTGGAAGAACTGCTTCGAGGAGGAGCTCATCTGCCCTATCTGCCTGCAC c.60
M A E N W K N C F E E E L I C P I C L H p.20
. . . . . . g.5243
GTTTTCGTGGAGCCAGTGCAGCTGCCGTGCAAACACAACTTCTGCCGGGGCTGCATCGGC c.120
V F V E P V Q L P C K H N F C R G C I G p.40
. . . . . . g.5303
GAGGCGTGGGCCAAGGACAGCGGCCTCGTACGCTGCCCAGAGTGCAACCAGGCCTACAAC c.180
E A W A K D S G L V R C P E C N Q A Y N p.60
. . . . . . g.5363
CAGAAGCCGGGCCTGGAGAAGAACCTGAAGCTCACCAACATCGTGGAGAAGTTCAATGCC c.240
Q K P G L E K N L K L T N I V E K F N A p.80
. . . . . . g.5423
CTGCACGTGGAGAAGCCGCCGGCGGCGCTGCACTGCGTGTTCTGCCGCCGCGGCCCCCCG c.300
L H V E K P P A A L H C V F C R R G P P p.100
. . . . . . g.5483
CTGCCCGCGCAGAAGGTCTGCCTGCGCTGCGAGGCGCCCTGCTGCCAGTCCCACGTGCAG c.360
L P A Q K V C L R C E A P C C Q S H V Q p.120
. . . . . . g.5543
ACGCACCTGCAGCAGCCCTCCACCGCCCGCGGGCACCTCCTGGTGGAGGCGGACGACGTG c.420
T H L Q Q P S T A R G H L L V E A D D V p.140
. . . . . . g.5603
CGGGCCTGGAGCTGCCCGCAGCACAACGCCTACCGCCTCTACCACTGCGAGGCCGAGCAG c.480
R A W S C P Q H N A Y R L Y H C E A E Q p.160
. . . . . . g.5663
GTGGCCGTGTGCCAGTACTGCTGCTACTACAGCGGCGCGCATCAGGGACACTCGGTGTGC c.540
V A V C Q Y C C Y Y S G A H Q G H S V C p.180
. . . | 02 . . . g.15188
GACGTGGAGATCCGAAGGAATGAAATCCGG | AAGATGCTCATGAAGCAGCAGGACCGGCTG c.600
D V E I R R N E I R | K M L M K Q Q D R L p.200
. . . . . . g.15248
GAGGAGCGAGAGCAGGACATTGAGGACCAGCTGTACAAACTCGAGTCAGACAAGCGCCTG c.660
E E R E Q D I E D Q L Y K L E S D K R L p.220
| 03 . . . . . . g.15639
GTGGAG | GAGAAAGTGAACCAACTGAAGGAGGAAGTTCGGCTGCAGTACGAGAAGCTGCAC c.720
V E | E K V N Q L K E E V R L Q Y E K L H p.240
. . . . . . g.15699
CAGCTGCTGGACGAGGACCTGCGGCAGACAGTGGAGGTCCTAGACAAGGCCCAGGCCAAG c.780
Q L L D E D L R Q T V E V L D K A Q A K p.260
. . . . . . g.15759
TTCTGCAGCGAGAACGCAGCGCAGGCGCTGCACCTCGGGGAGCGCATGCAGGAGGCCAAG c.840
F C S E N A A Q A L H L G E R M Q E A K p.280
. . . . . . g.15819
AAGCTGCTGGGCTCCCTGCAGCTGCTCTTTGATAAGACGGAGGATGTCAGCTTCATGAAG c.900
K L L G S L Q L L F D K T E D V S F M K p.300
| 04 . . . | 05 . . . g.16803
| AACACCAAGTCTGTGAAAATCCTGATGGACAG | GACCCAGACCTGCACGAGCAGCAGCCTT c.960
| N T K S V K I L M D R | T Q T C T S S S L p.320
. . . . . . g.16863
TCCCCCACTAAGATCGGCCACCTGAACTCCAAGCTCTTCCTGAACGAAGTGGCCAAGAAG c.1020
S P T K I G H L N S K L F L N E V A K K p.340
. . | 06 . . . g.17284
GAGAAGCAGCTGCGGAAAATGCTAGAAG | GCCCCTTCAGCACGCCGGTGCCCTTCCTGCAG c.1080
E K Q L R K M L E G | P F S T P V P F L Q p.360
. . . . . . g.17344
AGTGTCCCCCTGTACCCTTGCGGCGTGAGCAGCTCTGGGGCGGAAAAGCGCAAGCACTCA c.1140
S V P L Y P C G V S S S G A E K R K H S p.380
. . . . . . g.17404
ACGGCCTTCCCAGAGGCCAGTTTCCTAGAGACGTCGTCGGGCCCTGTGGGCGGCCAGTAC c.1200
T A F P E A S F L E T S S G P V G G Q Y p.400
. . . . . . g.17464
GGGGCGGCGGGCACAGCCAGCGGTGAGGGCCAGTCTGGGCAGCCCCTGGGGCCCTGCAGC c.1260
G A A G T A S G E G Q S G Q P L G P C S p.420
. . . . . . g.17524
TCCACGCAGCACTTGGTGGCCCTGCCGGGCGGCGCCCAACCAGTGCACTCAAGCCCCGTG c.1320
S T Q H L V A L P G G A Q P V H S S P V p.440
. . . . . . g.17584
TTCCCCCCATCGCAGTATCCCAATGGCTCCGCCGCCCAGCAGCCCATGCTCCCCCAGTAT c.1380
F P P S Q Y P N G S A A Q Q P M L P Q Y p.460
. . . . . . g.17644
GGCGGCCGCAAGATTCTCGTCTGTTCTGTGGACAACTGTTACTGTTCTTCCGTGGCCAAC c.1440
G G R K I L V C S V D N C Y C S S V A N p.480
. . . . . . g.17704
CATGGCGGCCACCAGCCCTACCCCCGCTCCGGCCACTTTCCCTGGACAGTGCCCTCGCAG c.1500
H G G H Q P Y P R S G H F P W T V P S Q p.500
. . . . . . g.17764
GAGTACTCACACCCGCTCCCGCCCACACCCTCCGTCCCCCAGTCCCTTCCCAGCCTGGCG c.1560
E Y S H P L P P T P S V P Q S L P S L A p.520
. . . . . . g.17824
GTCAGAGACTGGCTTGACGCCTCCCAGCAGCCCGGCCACCAGGATTTCTACAGGGTGTAT c.1620
V R D W L D A S Q Q P G H Q D F Y R V Y p.540
. . . g.17860
GGGCAGCCGTCCACCAAACACTACGTGACGAGCTAA c.1656
G Q P S T K H Y V T S X p.551
. . . . . . g.17920
cgccacgcaggcggcggggcgctggggaatcttcctccccagcccccgggctcgggagtt c.*60
. . . . . . g.17980
atgcatccagagacctgcccttctaccttcctcgcctcccctcttcctcattccattgcc c.*120
. . . . . . g.18040
ccaggtcttttccttttggattttgttttggttttggctttgtttttgatttttttttat c.*180
. . . . . . g.18100
tatgaatctcctggacgcagaggtgacagtgggagctggcctgggccaggacggcaggtg c.*240
. . . . . . g.18160
gccctggagatgggaaagtgtctgtgtcgaggcgctgagctctctctctgtttctccttt c.*300
. . . . . . g.18220
tttcctctactccttccccttcacacccccgtggctggaaggaacctcggcttccctgaa c.*360
. . . . . . g.18280
agcttgggggtcccacccttcttaccccacccgggaggaacgcccagggccccgggcttg c.*420
. . . . . . g.18340
tttctcctcttgttttccttttgggcagtttgatcactgatcgagtaaggaatgaccttt c.*480
. . . . . . g.18400
agattgtgcgacttttgtttttgtttttttaaatttttttaaaccaagaatgatttctcc c.*540
. . . . . . g.18460
tgcttccttctcctcaccatcttcccagacggagttcaaaggccacttctcaagcagctt c.*600
. . . . . . g.18520
ttggcaccttcagcctcagagtggaatcttttaaagacaggacccctatgtccaggaaag c.*660
. . . . . . g.18580
gggaaaaggaactttgccaatgatagtgaccacagcaaaagcaaataataataatattaa c.*720
. . . . . . g.18640
taataataaagagaaataaaataataaaataaaaaacaatagcacagcccttgttgaggt c.*780
. . . . . . g.18700
cagcagggaggaggggctgcccggagttgggtccttgcctggattttgacacagcaactt c.*840
. . . . . . g.18760
cctgtagtgagcactttgtatgaatcgtggacttcctgttctcaaggcgcaggtatttat c.*900
. . . . . . g.18820
tctgtatctgtctagagcacacaccaaaatccaaccttctaataaacatgatggcgcagt c.*960
g.18825
cccac c.*965
(downstream sequence)
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