(used for variant description)
(last modified October 20, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001193313.1 in the C7orf10 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering C7orf10 transcript NM_001193313.1.
(upstream sequence)
. . g.5024
agttcgccgcttgcaccgggaccg c.-1
. . . . . . g.5084
ATGCCATCTGAGACGCACGCGATGCTGGCGACGCTGGCGAGGGTGGCAGCTCTGCGCAGA c.60
M P S E T H A M L A T L A R V A A L R R p.20
. . . . . . g.5144
ACCTGCCTCTTCTCCGGCCGGGGCGGCGGGAGGGGGCTGTGGACTGGCCGCCCGCAGTCA c.120
T C L F S G R G G G R G L W T G R P Q S p.40
| 02 . . . . . | 03 . g.51986
G | ATATGAACAATATAAAGCCATTGGAAGGGGTAAAAATTCTGGATCTAACAAG | AGTCCTG c.180
D | M N N I K P L E G V K I L D L T R | V L p.60
. . . . . . g.52046
GCGGGACCTTTTGCTACTATGAATTTAGGAGATCTTGGAGCAGAAGTTATAAAAGTGGAG c.240
A G P F A T M N L G D L G A E V I K V E p.80
| 04. . . . . . g.58572
AGACCAG | GAGCTGGTGATGATACACGAACTTGGGGGCCACCTTTTGTTGGGACAGAAAGT c.300
R P G | A G D D T R T W G P P F V G T E S p.100
. . . | 05 . . . g.59595
ACATATTATCTCAGTGTTAACCGAAATAAAAAA | AGTATTGCTGTTAATATCAAGGATCCA c.360
T Y Y L S V N R N K K | S I A V N I K D P p.120
. . | 06 . . . . g.65000
AAAGGGGTGAAAATCATCAAAGAG | CTTGCAGCTGTTTGTGATGTGTTTGTGGAAAACTAT c.420
K G V K I I K E | L A A V C D V F V E N Y p.140
. . . . . . g.65060
GTCCCTGGCAAACTGTCTGCAATGGGCCTGGGATATGAAGATATAGACGAGATTGCTCCT c.480
V P G K L S A M G L G Y E D I D E I A P p.160
. . | 07 . . . . g.107694
CACATCATCTATTGTTCCATCACAG | GGTATGGTCAGACAGGTCCAATTTCTCAGCGAGCT c.540
H I I Y C S I T G | Y G Q T G P I S Q R A p.180
. . . . . | 08. g.144540
GGTTATGATGCTGTTGCCTCGGCTGTTTCTGGTCTGATGCACATCACAGGGCCTGAG | AAT c.600
G Y D A V A S A V S G L M H I T G P E | N p.200
. . . . . . g.144600
GGAGATCCAGTTCGCCCAGGAGTAGCTATGACTGATCTTGCCACTGGCCTGTATGCATAT c.660
G D P V R P G V A M T D L A T G L Y A Y p.220
. . . . . . g.144660
GGAGCTATTATGGCTGGATTGATACAAAAATACAAAACTGGGAAAGGACTGTTCATTGAT c.720
G A I M A G L I Q K Y K T G K G L F I D p.240
. . | 09 . . . . g.186823
TGTAACCTACTGTCATCCCAG | GTGGCGTGTTTGTCTCACATAGCTGCAAATTATCTTATT c.780
C N L L S S Q | V A C L S H I A A N Y L I p.260
. . . . . | 10. g.319314
GGTCAAAAGGAAGCAAAACGTTGGGGTACAGCTCATGGCAGTATCGTTCCTTACCAG | GCT c.840
G Q K E A K R W G T A H G S I V P Y Q | A p.280
. . . . . . g.319374
TTTAAAACCAAGGATGGCTATATTGTAGTTGGAGCAGGAAATAACCAGCAGTTTGCCACC c.900
F K T K D G Y I V V G A G N N Q Q F A T p.300
| 11 . . . . . g.329176
GTCTGCAAG | ATCTTGGATTTGCCTGAGTTGATTGATAATTCCAAGTATAAAACTAACCAC c.960
V C K | I L D L P E L I D N S K Y K T N H p.320
. . . . | 12. . g.366321
CTTCGGGTACACAATAGAAAAGAGCTTATTAAAATATTATCTGAACG | GTTTGAAGAAGAA c.1020
L R V H N R K E L I K I L S E R | F E E E p.340
. . . . . . g.366381
CTGACCAGCAAGTGGTTATATCTTTTTGAAGGCAGTGGAGTCCCGTATGGCCCAATCAAC c.1080
L T S K W L Y L F E G S G V P Y G P I N p.360
. . . | 13 . . . g.619488
AACATGAAGAATGTATTTGCAGAACCTCAG | GTATTACACAATGGCCTCGTTATGGAGATG c.1140
N M K N V F A E P Q | V L H N G L V M E M p.380
. . . | 14 . . . g.730366
GAGCATCCAACTGTGGGGAAGATTTCCGTCCCAG | GCCCAGCTGTGAGATACAGTAAGTTC c.1200
E H P T V G K I S V P G | P A V R Y S K F p.400
. . . . . . g.730426
AAGATGTCAGAGGCCAGGCCGCCCCCGCTGCTCGGGCAGCACACAACGCACATCCTGAAG c.1260
K M S E A R P P P L L G Q H T T H I L K p.420
. . . . . . g.730486
GAGGTCCTGAGATACGATGACAGGGCCATCGGGGAGCTGCTCAGCGCTGGAGTGGTGGAC c.1320
E V L R Y D D R A I G E L L S A G V V D p.440
. g.730504
CAACATGAAACTCACTGA c.1338
Q H E T H X p.445
. . . . . . g.730564
caaaggaaaagggctcttcctcataacctcgatccgaatacactggcaaaggcaacactt c.*60
. . . . . . g.730624
tgcttggacccttctccccagttctgataccactaaaaagaagatttagagtaactccag c.*120
. . . . . . g.730684
atttcttacatggcatctccagaatggctctggtattaatgaatctagtgccttttaaat c.*180
. . . . . . g.730744
gtatcccacgttttgttccctaccatcttttttttcagatgatgatttcattatggattt c.*240
. . . . g.730792
gtgggatttttaaaaataaagttttaatttttttcctggaaaaatgca c.*288
(downstream sequence)
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