(used for variant description)
(last modified January 13, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_198721.2 in the COL25A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering COL25A1 transcript NM_198721.2.
(upstream sequence)
. . . . . g.5051
ccgcgacttcggcttcgcgagtagcattggttccttgggtttatttcgttt c.-481
. . . . . . g.5111
tcctctctcttctccaccttagtcgcccctttcgcgctgcgctgtagcgtgctctcacag c.-421
. . . . . . g.5171
cctttttgccttgaactgaatgcaggtgggaaacaggtcggcgtgccgaaagacaccgag c.-361
. . . . . . g.5231
taggtagaaataaggcaaactcacagaggcgcaacaggtccggtcctccgtggccagggc c.-301
. . . . . . g.5291
gagccgcggccccgcgtggcgcctcggccgttgccctcggaccctgagcggccactgttg c.-241
. . . . . . g.5351
gggccctcgaaagaggtgtcggtcctctgggagtcggaagagctgtctgggtgggtttcg c.-181
. . . . . . g.5411
tcttgctttttaccccaccgccacccagtccccggacggagggtgcttttcacttccagc c.-121
. . . . . . g.5471
tgggaggagagaagaaagcggggatggtgcacgcctgcgggtctggacgctgagcaaggc c.-61
. | 02 . . . . . g.5624
aggg | gattatttgaggtgtagagggtgggaagcgaagccgagacggccgaccccgccacg c.-1
. . . . . . g.5684
ATGCTGCTGAAGAAGCACGCAGGGAAAGGAGGGGGCCGGGAGCCCAGATCCGAGGACCCG c.60
M L L K K H A G K G G G R E P R S E D P p.20
. . . . . . g.5744
ACCCCTGCCGAACAGCATTGTGCCCGGACCATGCCCCCGTGTGCCGTCCTGGCGGCCCTC c.120
T P A E Q H C A R T M P P C A V L A A L p.40
. . . . . . g.5804
CTGTCAGTGGTGGCCGTGGTGTCTTGCCTGTACCTGGGTGTGAAAACCAACGACCTCCAG c.180
L S V V A V V S C L Y L G V K T N D L Q p.60
. . . . . . g.5864
GCGAGGATCGCCGCTCTCGAATCCGCCAAAGGGGCCCCTTCCATTCATCTGCTGCCTGAT c.240
A R I A A L E S A K G A P S I H L L P D p.80
. . . . . | 03. g.6994
ACCCTGGATCACCTCAAGACTATGGTGCAAGAGAAAGTGGAGCGACTTCTGGCTCAG | AAA c.300
T L D H L K T M V Q E K V E R L L A Q | K p.100
. . . . . . g.7054
TCCTATGAACATATGGCTAAAATAAGAATCGCAAGAGAAGCACCTTCAGAATGTAACTGC c.360
S Y E H M A K I R I A R E A P S E C N C p.120
| 04. . . . . | 05 . g.259476
CCAGCAG | GCCCTCCAGGGAAACGAGGTAAGAGAGGCCGAAGAGGAGAATCTG | GTCCTCCT c.420
P A G | P P G K R G K R G R R G E S G | P P p.140
| 06 . | 07 . . | 08 . . g.333265
| GGACAGCCTGGTCCTCAG | GGCCCTCCTGGTCCAAAAGGCGATAAG | GGAGAACAAGGTGAT c.480
| G Q P G P Q | G P P G P K G D K | G E Q G D p.160
. | 09 . . . . . g.366254
CAGGGACCTAGG | ATGGTGTTTCCTAAAATCAATCATGGGTTTCTCTCTGCTGATCAGCAG c.540
Q G P R | M V F P K I N H G F L S A D Q Q p.180
. . | 10 . . . . g.367033
CTCATTAAACGCCGCCTGATTAAG | GGTGACCAAGGACAGGCAGGGCCTCCAGGACCCCCT c.600
L I K R R L I K | G D Q G Q A G P P G P P p.200
. . . . . . g.367093
GGCCCTCCAGGCCCAAGAGGGCCACCTGGGGACACAGGGAAAGATGGCCCCCGTGGAATG c.660
G P P G P R G P P G D T G K D G P R G M p.220
. | 11 . . . | 12 . g.387051
CCAGGAGTACCC | GGTGAACCAGGAAAGCCAGGAGAACAAGGCTTGATG | GGTCCTCTAGGG c.720
P G V P | G E P G K P G E Q G L M | G P L G p.240
. | 13 . . . . . g.389472
CCTCCGGGACAAAAG | GGTTCTATTGGAGCACCTGGAATTCCAGGGATGAATGGGCAAAAG c.780
P P G Q K | G S I G A P G I P G M N G Q K p.260
| 14 . . . . . | 15 . g.408469
| GGTGAGCCCGGGTTGCCTGGAGCAGTAGGACAGAATGGAATACCAGGACCTAAG | GGAGAA c.840
| G E P G L P G A V G Q N G I P G P K | G E p.280
. . | 16 . . . . g.410971
CCTGGAGAACAAGGTGAAAAG | GGAGACGCTGGAGAGAACGGCCCCAAGGGTGACACAGGC c.900
P G E Q G E K | G D A G E N G P K G D T G p.300
| 17 . . . | 18 . . g.418408
GAAAAG | GGTGACCCTGGATCATCTGCTGCAGGAATTAAG | GGAGAACCTGGGGAATCTGGT c.960
E K | G D P G S S A A G I K | G E P G E S G p.320
. | 19 . . . . . g.423466
CGTCCAGGGCAAAAG | GGTGAACCAGGGCTTCCTGGGCTTCCTGGACTTCCGGGGATAAAG c.1020
R P G Q K | G E P G L P G L P G L P G I K p.340
| 20 . . . . . . g.438553
| GGAGAACCAGGTTTCATTGGTCCTCAAGGAGAACCAGGCTTACCAGGTTTACCAGGAACA c.1080
| G E P G F I G P Q G E P G L P G L P G T p.360
| 21 . . . . . . g.444313
AAA | GGTGAACGGGGGGAAGCAGGGCCTCCTGGAAGAGGTGAGCGAGGGGAACCTGGAGCC c.1140
K | G E R G E A G P P G R G E R G E P G A p.380
. | 22 . . . . | 23. g.446675
CCCGGACCAAAG | GGGAAACAAGGTGAATCAGGAACTAGAGGCCCAAAGGGGTCAAAG | GGG c.1200
P G P K | G K Q G E S G T R G P K G S K | G p.400
. . . . | 24 . . g.447928
GATCGTGGAGAAAAAGGGGACTCTGGAGCTCAGGGACCAAGG | GGTCCACCTGGTCAAAAA c.1260
D R G E K G D S G A Q G P R | G P P G Q K p.420
. . . . . . g.447988
GGGGATCAAGGAGCCACTGAGATCATAGACTACAACGGCAACCTCCACGAAGCCTTACAG c.1320
G D Q G A T E I I D Y N G N L H E A L Q p.440
| 25 . . | 26 . . . . g.455399
| AGGATTACCACCTTAACTGTCACG | GGTCCCCCTGGACCTCCTGGACCTCAAGGACTACAA c.1380
| R I T T L T V T | G P P G P P G P Q G L Q p.460
| 27 . . . . | 28 . g.461430
GGGCCAAAG | GGAGAGCAGGGATCTCCAGGAATCCCAGGAATGGATGGAGAGCAG | GGACTC c.1440
G P K | G E Q G S P G I P G M D G E Q | G L p.480
. . . . . . g.461490
AAAGGCTCAAAGGGAGACATGGGGGACCCAGGTATGACAGGTGAAAAAGGAGGAATTGGA c.1500
K G S K G D M G D P G M T G E K G G I G p.500
. | 29 . . . . . g.462437
CTTCCTGGATTACCG | GGAGCCAATGGAATGAAAGGAGAAAAAGGAGATTCTGGAATGCCG c.1560
L P G L P | G A N G M K G E K G D S G M P p.520
. | 30 . . . . g.463116
GGTCCACAGGGTCCTTCT | ATCATAGGCCCACCAGGCCCACCAGGTCCCCATGGCCCACCT c.1620
G P Q G P S | I I G P P G P P G P H G P P p.540
| 31 . . | 32 . . . g.475234
GGCCCCATG | GGACCTCATGGACTTCCTGGACCAAAG | GGTACAGATGGTCCTATGGGACCC c.1680
G P M | G P H G L P G P K | G T D G P M G P p.560
. . . | 33 . . . g.480485
CATGGCCCTGCAGGTCCCAAAGGAGAAAGA | GGTGAAAAAGGAGCTATGGGAGAGCCTGGA c.1740
H G P A G P K G E R | G E K G A M G E P G p.580
. . | 34 . . . | 35 . g.483425
CCAAGAGGGCCCTATGGGCTGCCT | GGGAAAGATGGAGAGCCTGGTCTTGAT | GGCTTCCCT c.1800
P R G P Y G L P | G K D G E P G L D | G F P p.600
. . . . | 36 . . g.488329
GGTCCACGGGGTGAGAAGGGTGATCTAGGAGAAAAGGGAGAAAAG | GGATTCCGTGGCGTT c.1860
G P R G E K G D L G E K G E K | G F R G V p.620
. . . . . . g.488389
AAGGGGGAAAAAGGGGAGCCAGGCCAGCCTGGCCTGGATGGGCTGGATGCCCCTTGCCAA c.1920
K G E K G E P G Q P G L D G L D A P C Q p.640
| 37 . . . . | 38 g.493732
TTG | GGGCCAGATGGCTTACCCATGCCTGGCTGTTGGCAAAAG | TGA c.1965
L | G P D G L P M P G C W Q K | X p.654
. . . . . . g.493792
tgaatctaacctttcaagcatgaagttgtgtatataagggtccatttttaatatttatag c.*60
. . . . . . g.493852
ttgaaaactgaattgcagattttacaagtctgagatatgtttacatagggctgcttcttc c.*120
. . . . . . g.493912
ctgctggcagtagtatacatgtccatttttactccacttacatctgaaattgggcaattt c.*180
. . . . . . g.493972
gtgaaaccagtgagaatcctgcaaaaaatatagatcagtatctccttatcttatgtgaag c.*240
. . . . . . g.494032
atacgtatttatatggacaaatcagtggtagagaatgattgattgtactagctattttcc c.*300
. . . . . . g.494092
ttcttttggcttgctaattgcatggacaaaaagtgccatgaaatagtttacatgaaatgg c.*360
. . . . . . g.494152
tgaccaaatatggactcaaagctatgaaaatgtactatactgactgattttagagctgat c.*420
. . . . . . g.494212
tatcacattcccattcacctttcatgtcggcgttgactcatacctacaccacccattgaa c.*480
. . . . . . g.494272
actaactaaaaaagcatgactgtgtgccaaacctgcttgctgtgcaacttcagatgctag c.*540
. . . . . . g.494332
catgttgatcaggagtcctttgattacatctgaacctttattccttttgtcatctcaagg c.*600
. . . . . . g.494392
gggttacaccatggcttattgccaaaaagagataaggtggcggagagcacacacacaatt c.*660
. . . . . . g.494452
tgtcttgtattttgagggagttgcagtcctgactgcagatctacagcttccagtattgtg c.*720
. . . . . . g.494512
ggctcatgtggccactttggttgaaatacgaaggggttgagcctgttgctgccaccagtt c.*780
. . . . . . g.494572
ttccttgggctgcccttggcagtgaagacatgggaagaggaccgattcagcctccagcac c.*840
. . . . . . g.494632
tgcctctcatgtgaccaagtaggaaagaggtttacaaatgcaaacatgcagaaccacaga c.*900
. . . . . . g.494692
ctttaaaaatatgtataaataaactgaatttcagcaagtgttaatataggtgcttttaaa c.*960
. . . . . . g.494752
aatgacagaggcacagcacttcttttggaataggagattcttggaatgggagatcctgtc c.*1020
. . . . . . g.494812
cctgagggaaaagggatgtccatcccaccaaaacttgggttgctgaagaaataacatgtt c.*1080
. . . . . . g.494872
ctgagaagggatcagccaaaatcgcctctcccgatgatataggagagcttactgggacaa c.*1140
. . . . . . g.494932
tctgtgccaaagttgttgtgagagctttccttcctcctacgatccaaccatgtcaaacat c.*1200
. . . . . . g.494992
ttcctacaaagtttgagaaacaggtatttttcattctttttaatgcttttttctttttct c.*1260
. . . . . . g.495052
ttctttagacccaagaatattgaaaaaatattagtttcagtttttgtcacatatgttttg c.*1320
. . . . . . g.495112
aacaatttttttaagaagtcttcaaatcataataatttggctccagtagtcaaaatgacc c.*1380
. . . . . . g.495172
ttttactaacttctctcttgttttggataattggatagaatataaaagaagctccacttt c.*1440
. . . . . . g.495232
cagtctaatcattgtaaagcatgaaagttatgcatttttaagtagttttgacttttttta c.*1500
. . . . . . g.495292
catgatgaatgtaacgtacatggagattatcagttaatataaagccaagattttgtcaca c.*1560
. . . . . . g.495352
tttggtaatattaactaatttctatttttatggttttaagttttgtctatatttagattt c.*1620
. . . . . . g.495412
ctttctctttttaacatttctaaatgtttgtctcatcctcatatccacagaccaaatcta c.*1680
. . . . . . g.495472
agatctcagaaagctgtgaaatatagttgccataaagaaaatatttttcatctacttgct c.*1740
. . . . . . g.495532
caaactttacctaaccatattagatggaacatttctttgcacagtaaagagttggtagcg c.*1800
. . . . . . g.495592
tgttttgaaatggcttattctaagtggaagtgttacattgaaagaaacattatcaatgag c.*1860
. . . . . . g.495652
gagtaggcaccctttcagcccattagagaatttaatttctctcctgactcaatgccatct c.*1920
. . . . . . g.495712
tctgggaagatttctagtttcatgcataggtgtcaccaccagaagggaaattaactcatc c.*1980
. . . . . . g.495772
cttggcttatagttaagatataaccataagacaaggaacctaaaatcctcatgatctcat c.*2040
. . . . . . g.495832
ttatgttatgtaaccaaatgacagtcatacaaaatggcatcttcttttttttctattaaa c.*2100
. . . . . . g.495892
tttttaaggttgaaagatgtttaaactattagatcagtctaattggtaacatttctggta c.*2160
. . . . . . g.495952
acattccacacccctaagccagtttagcattttgaaaataatggaggacattttctaaca c.*2220
. . . . . . g.496012
atttcttgtatggcatggtgttaggataacgtattgctcaatgtctgacacaatttgtct c.*2280
. . . . . . g.496072
taaatggtttggaaaaatgaactgaagtgggtggaactacattctcttcaggaaaacaaa c.*2340
. . . . . . g.496132
ctacagtgtccagtggctatatttttttcccttctatctttttttctgctcctctagtag c.*2400
. . . . . . g.496192
aaagaggtggattgaaatggatcactatttaaaacttgcacagcttcaggagacgatacc c.*2460
. . . . . . g.496252
tcaacatcaaaagaaaaacactttatgtataaaaaaattttttgaaatacagcccttcaa c.*2520
. . . . . . g.496312
agaatactattctgtcctgtgtgtatattgagtttttgctctataactgatttgacaaca c.*2580
. . . . . . g.496372
tcaacttatttcatgattaaatgaggttgtaaactttcattacatttatttccttgggaa c.*2640
. . . . . . g.496432
aaacaaagggatggaaatactcctccttgttcagtggaattgctaggtcttaaccatgat c.*2700
. . . . . . g.496492
ggataatctttaacttttggttactacaatgttttcaagcatccattttgtcatatagag c.*2760
. . . . . . g.496552
aattcttaaataatttctaagtgaatgaaagaattgtgtttgttgatatgtgttgataga c.*2820
. . . . . . g.496612
taatatactttccttaaagatttctttaatgtgtgttattggatagagggttgagaaaat c.*2880
. . . . . . g.496672
atacatgaaagacacattggaaataaggcaaggtcagtttctatttctaataaaacattg c.*2940
. . . . . . g.496732
aaggatagcaaattgatatgtgttttagatttaaaattgtttttcatttatgttggttgg c.*3000
. . . . . . g.496792
tgctaatgtatctcttttcctttttctctatggacaatacaactactatggataatttta c.*3060
. . . . . . g.496852
tttccctgtttaatagcattcctaaatcattagtgtgttattttatttttaaagttcatg c.*3120
. . . . . . g.496912
aatttgctataattatggtccaatgaccaggctttcttaatgtaaaacaaaacagtgtac c.*3180
. . g.496938
caatagatgatgtgtgtttactcgga c.*3206
(downstream sequence)
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