(used for variant description)
(last modified June 30, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_024790.6 in the CSPP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering CSPP1 transcript NM_024790.6.
(upstream sequence)
. . . g.5031
gaggggcggagccccggcccggaggtctgtc c.-1
. . . . . . g.5091
ATGCTGTTCCCGCTCCAGGTGGCCGCTGTAACCTCTTCGGTCCGCGACGATCCTCTAGAG c.60
M L F P L Q V A A V T S S V R D D P L E p.20
. . . | 02 . . g.14897
CACTGTGTGTCTCCCCGGACGCGAGCCCGCTCCCCTGA | AATCTGCAAAATGGCTGATAAT c.120
H C V S P R T R A R S P E | I C K M A D N p.40
. . . . . . g.14957
TTGGATGAATTTATTGAAGAGCAAAAAGCCAGATTGGCCGAAGACAAAGCAGAGTTGGAA c.180
L D E F I E E Q K A R L A E D K A E L E p.60
. . | 03. . . . g.17147
AGTGATCCACCTTACATGGAAATGAAG | GGAAAGTTGTCAGCGAAGCTTTCTGAAAACAGT c.240
S D P P Y M E M K | G K L S A K L S E N S p.80
. . . . . . g.17207
AAGATACTGATCTCTATGGCTAAGGAAAACATACCACCAAATAGTCAACAGACCAGGGGT c.300
K I L I S M A K E N I P P N S Q Q T R G p.100
| 04. . . . . . g.26692
TCCTTAG | GAATTGATTATGGATTAAGTTTACCACTTGGAGAAGACTATGAACGGAAGAAA c.360
S L G | I D Y G L S L P L G E D Y E R K K p.120
. . . . . | 05 . g.34184
CATAAATTAAAAGAAGAATTGCGGCAAGATTACAGACGTTATCTTACTCAG | GAAAGGTTG c.420
H K L K E E L R Q D Y R R Y L T Q | E R L p.140
. . . . . . g.34244
AAACTTGAACGTAACAAAGAATACAATCAGTTTCTCAGGGGTAAGGAAGAATCCAGTGAA c.480
K L E R N K E Y N Q F L R G K E E S S E p.160
. . . | 06 . . . g.35955
AAGTTCAGGCAGGTGGAAAAGAGTACTGAG | CCCAAGAGTCAGAGAAATAAAAAACCTATT c.540
K F R Q V E K S T E | P K S Q R N K K P I p.180
. . . . . . g.36015
GGTCAAGTTAAGCCTGATCTAACTTCACAAATACAGACATCTTGTGAAAATTCAGAGGGT c.600
G Q V K P D L T S Q I Q T S C E N S E G p.200
. . . . . . g.36075
CCTAGAAAAGATGTCTTAACTCCTTCAGAGGCATATGAAGAACTTCTGAACCAAAGACGA c.660
P R K D V L T P S E A Y E E L L N Q R R p.220
. . . . . . g.36135
CTAGAGGAGGACAGATACCGACAACTAGATGATGAAATCGAATTAAGGAATAGAAGAATT c.720
L E E D R Y R Q L D D E I E L R N R R I p.240
. . . . . . g.36195
ATTAAAAAAGCAAATGAAGAAGTGGGCATTTCCAACCTAAAACATCAAAGGTTTGCAAGC c.780
I K K A N E E V G I S N L K H Q R F A S p.260
. . . . . . g.36255
AAGGCTGGCATTCCAGATAGAAGATTTCACAGATTTAATGAGGATCGTGTTTTTGATAGA c.840
K A G I P D R R F H R F N E D R V F D R p.280
. . . . . . g.36315
CGGTATCATAGACCAGACCAAGATCCTGAAGTAAGTGAAGAAATGGATGAGAGGTTTAGA c.900
R Y H R P D Q D P E V S E E M D E R F R p.300
. . . . . | 07 . g.43679
TATGAAAGTGATTTTGATAGAAGACTTTCGAGAGTGTATACAAATGACAG | GATGCACAGG c.960
Y E S D F D R R L S R V Y T N D R | M H R p.320
. . . . . . g.43739
AACAAACGAGGGAATATGCCTCCTATGGAACATGATGGGGATGTTATAGAACAGTCAAAC c.1020
N K R G N M P P M E H D G D V I E Q S N p.340
. . | 08 . . . g.46568
ATAAGAATTTCATCTGCTGAAAATAAAAG | TGCTCCAGACAATGAAACATCCAAATCTGCT c.1080
I R I S S A E N K S | A P D N E T S K S A p.360
. . . . | 09 . . g.52624
AATCAAGATACCTGTAGTCCTTTTGCAGGGATGCTCTTTG | GAGGTGAAGATCGAGAACTT c.1140
N Q D T C S P F A G M L F G | G E D R E L p.380
. . . . . . g.52684
ATTCAGAGAAGGAAAGAGAAATACAGACTAGAACTGTTGGAACAAATGGCTGAGCAACAG c.1200
I Q R R K E K Y R L E L L E Q M A E Q Q p.400
. | 10 . . . . . g.54483
AGGAACAAGAGACG | AGAAAAAGATTTAGAACTCAGGGTTGCAGCGTCTGGAGCACAAGAC c.1260
R N K R R | E K D L E L R V A A S G A Q D p.420
. | 11 . . . . . g.56594
CCTGAGAAATCG | CCTGATAGACTAAAGCAGTTTAGTGTGGCACCAAGACACTTTGAAGAG c.1320
P E K S | P D R L K Q F S V A P R H F E E p.440
. . . . . . g.56654
ATGATACCACCTGAAAGACCCAGAATAGCTTTCCAGACACCTCTCCCTCCTTTATCTGCC c.1380
M I P P E R P R I A F Q T P L P P L S A p.460
. . . . . . g.56714
CCATCTGTCCCACCCATCCCATCAGTTCATCCTGTTCCTTCTCAAAATGAAGATTTGCGC c.1440
P S V P P I P S V H P V P S Q N E D L R p.480
. . . . | 12 . . g.58899
AGTGGACTCAGCAGCGCCCTTGGTGAAATGGTGTCTCCCAG | GATTGCACCTCTGCCTCCA c.1500
S G L S S A L G E M V S P R | I A P L P P p.500
. . . . . . g.58959
CCTCCCCTACTACCACCTTTGGCTACTAACTATCGAACTCCTTATGATGATGCATACTAT c.1560
P P L L P P L A T N Y R T P Y D D A Y Y p.520
. . . . | 13 . . g.59392
TTTTATGGGTCCAGGAATACTTTCGATCCCAGTCTTGCTTATT | ATGGTTCAGGAATGATG c.1620
F Y G S R N T F D P S L A Y Y | G S G M M p.540
. . . . . . g.59452
GGCGTACAGCCTGCAGCTTATGTTAGTGCTCCTGTCACCCACCAACTAGCACAACCTGTT c.1680
G V Q P A A Y V S A P V T H Q L A Q P V p.560
| 14 . . . . . . g.72641
GT | GAATACGGTTGGACAGAATGAACTGAAGATTACAAGTGATCAAGTGATAAATTCAGGA c.1740
V | N T V G Q N E L K I T S D Q V I N S G p.580
. . . . . . g.72701
TTGATTTTTGAAGATAAACCGAAACCTTCCAAACAGTCACTTCAGTCTTACCAAGAGGCT c.1800
L I F E D K P K P S K Q S L Q S Y Q E A p.600
. | 15 . . . . . g.78136
TTGCAGCAGCAG | ATTCGGGAAAGAGAAGAAAGAAGGAAGAAAGAACGTGAAGAAAAAGAA c.1860
L Q Q Q | I R E R E E R R K K E R E E K E p.620
. . . . . . g.78196
GAATATGAAGCTAAATTAGAAGCTGAAATGAGAACATATAATCCCTGGGGAAAAGGTGGA c.1920
E Y E A K L E A E M R T Y N P W G K G G p.640
. . . . | 16 . . g.90435
GGTGGTGCTCCTCTCAGGGATGCAAAAGGAAATCTGATAA | CTGATTTGAATAGGATGCAC c.1980
G G A P L R D A K G N L I T | D L N R M H p.660
. . . . . . g.90495
AGACAAAATATAGATGCCTACCATAACCCAGATGCAAGAACATATGAAGATAAAAGGGCT c.2040
R Q N I D A Y H N P D A R T Y E D K R A p.680
. . . . . . g.90555
GTTGTATCTCTAGACCCAAATTTAGCCACTTCAAATGCTGAGAACCTAGAAGATGCTGCA c.2100
V V S L D P N L A T S N A E N L E D A A p.700
. | 17 . . . . . g.94703
AATAAAAGCTCAG | GTCATATGCAAACACAGAGCTCTCCTTTTGCTCGGGGAAATGTATTT c.2160
N K S S G | H M Q T Q S S P F A R G N V F p.720
. . . . . . g.94763
GGTGAGCCTCCAACTGAACTTCAGATTAAACAGCAAGAATTATACAAGAATTTTCTTCGT c.2220
G E P P T E L Q I K Q Q E L Y K N F L R p.740
| 18 . . . . . . g.99133
TTCCAG | ATTGAGGAAAAGAAACAAAGAGAGGAAGCAGAGCGAGAGAGACTGAGAATTGCA c.2280
F Q | I E E K K Q R E E A E R E R L R I A p.760
. . . . . . g.99193
GAAGAAAAAGAAGAAAGACGGCTTGCAGAACAGAGGGCACGAATTCAGCAGGAGTATGAA c.2340
E E K E E R R L A E Q R A R I Q Q E Y E p.780
. . . | 19 . . . g.99647
GAGGAACAGGAAAAGAAAAGAGAGAAAGAGGAGGAG | CAAAGGCTAAAAAATGAAGAGCAT c.2400
E E Q E K K R E K E E E | Q R L K N E E H p.800
. . . . . . g.99707
ATTCGGTTAGCTGAAGAAAGACAAAAAGAAGCAGAAAGAAAGAAGAAAGAAGAAGAAGAA c.2460
I R L A E E R Q K E A E R K K K E E E E p.820
. . . . . . g.99767
AAATATAACCTGCAACTTCAGCACTACTGTGAAAGAGACAATTTGATTGGGGAAGAAACA c.2520
K Y N L Q L Q H Y C E R D N L I G E E T p.840
| 20 . . . . . . g.102500
AAG | CACATGAGACAGCCTTCTCCTATAGTTCCTGCTCTTCAGAACAAAATTGCAAGCAAA c.2580
K | H M R Q P S P I V P A L Q N K I A S K p.860
. . . . | 21 . g.104376
CTCCAAAGACCTCCTTCAGTTGACAGCATCATACGTTCCTTTATTCAT | GAAAGTTCCATG c.2640
L Q R P P S V D S I I R S F I H | E S S M p.880
. . . . . | 22 . g.105028
TCCAGGGCACAGTCACCCCCGGTACCTGCCAGGAAAAATCAGCTCCGTGCAGAAG | AGGAG c.2700
S R A Q S P P V P A R K N Q L R A E E | E p.900
. . . . . . g.105088
AAAAAAAATGTAATTATGGAATTATCAGAAATGAGAAAACAGCTTCGTAGTGAAGAGAGG c.2760
K K N V I M E L S E M R K Q L R S E E R p.920
. . . . . | 23 . g.113055
CGTCTACAAGAGCGATTGCTACACATGGACAGTGATGATGAAATTCCTATCAG | GAAAAAG c.2820
R L Q E R L L H M D S D D E I P I R | K K p.940
. . . . . . g.113115
GAAAGGAATCCCATGGATATATTTGATATGGCTAGACATCGGTTGCAAGCTCCTGTCAGA c.2880
E R N P M D I F D M A R H R L Q A P V R p.960
. . . . . . g.113175
AGACAGTCCCCTAAGGGCTTAGACGCTGCCACTTTTCAGAATGTTCATGATTTTAATGAG c.2940
R Q S P K G L D A A T F Q N V H D F N E p.980
. | 24 . . . . . g.115975
CTGAAAGATAGAG | ATTCAGAAACACGAGTTGATCTGAAATTTATGTACCTGGATCCTCCA c.3000
L K D R D | S E T R V D L K F M Y L D P P p.1000
. . . . . . g.116035
AGAGATCATCACACCTTAGAGATTCAGCAGCAAGCCCTGCTAAGAGAGCAGCAGAAGAGG c.3060
R D H H T L E I Q Q Q A L L R E Q Q K R p.1020
. . . | 25 . . . g.118338
CTGAACAGAATAAAAATGCAGGAAGGTGCCAAAG | TTGACTTAGATGCCATCCCAAGTGCT c.3120
L N R I K M Q E G A K V | D L D A I P S A p.1040
. . | 26 . . . . g.120534
AAAGTACGAGAGCAAAGAATG | CCCAGAGATGACACTAGTGATTTCTTGAAAAACTCATTA c.3180
K V R E Q R M | P R D D T S D F L K N S L p.1060
. . | 27 . . . . g.131317
TTGGAATCTGATAGTGCTTTTATTG | GGGCTTACGGTGAGACATATCCTGCCATTGAAGAT c.3240
L E S D S A F I G | A Y G E T Y P A I E D p.1080
. . . . . . g.131377
GACGTCCTCCCTCCACCATCACAGTTGCCCTCTGCACGGGAGCGCAGGAGGAACAAATGG c.3300
D V L P P P S Q L P S A R E R R R N K W p.1100
. | 28 . . . . . g.134141
AAAGGACTAGACATT | GATAGCAGTCGTCCTAATGTAGCACCAGATGGTCTCTCTCTAAAA c.3360
K G L D I | D S S R P N V A P D G L S L K p.1120
. . . . . . g.134201
TCTATATCCAGTGTAAATGTTGATGAGCTTAGAGTGAGAAATGAGGAACGAATGCGAAGA c.3420
S I S S V N V D E L R V R N E E R M R R p.1140
. . . | 29 . . . g.136040
CTGAATGAATTTCACAATAAACCTATTAATACAG | ATGATGAGAGTTCACTGGTTGACCCT c.3480
L N E F H N K P I N T D | D E S S L V D P p.1160
. . . . . . g.136100
GATGACATCATGAAACACATAGGGGATGACGGATCAAACTCTGTAGCAACTGAGCCCTGG c.3540
D D I M K H I G D D G S N S V A T E P W p.1180
. . . . . . g.136160
CTCCGCCCTGGCACTTCAGAAACGCTGAAACGTTTCATGGCAGAGCAGCTGAACCAGGAG c.3600
L R P G T S E T L K R F M A E Q L N Q E p.1200
. . . . . . g.136220
CAGCAGCAGATTCCTGGAAAACCAGGCACTTTCACTTGGCAGGGCCTGTCGACTGCACAT c.3660
Q Q Q I P G K P G T F T W Q G L S T A H p.1220
g.136226
GGTTAA c.3666
G X p.1221
. . . . . . g.136286
aataaacctgtactggacccagtagtgccttttaaggtgaaaggaatggtaaatctgtac c.*60
. . . . . . g.136346
ctttaatatgtcctacttttggcccctacctgaaagttactttttttccatcatctgtat c.*120
. . . . . . g.136406
ataaaattatttttatcatgatgtatattatgtacataaataaaaggccatgattattga c.*180
. . . . . . g.136466
tttatataatagaattgtatagattatttttgcacagttttgtcataaattagggtggta c.*240
. . . . . . g.136526
atgaactggattgaactactatatgtgcattatattgaattctgcttgtcattaagataa c.*300
. . . . . . g.136586
ggtgaataagtgtcttaaacgtcctgtaaaaccggactcccctttgttacatgcacattt c.*360
. . . . . . g.136646
tccattgttacctcgatgcaaaagaattcatttagtaggtacatctattgtagctgtgat c.*420
. . . . . . g.136706
tattccagtttctgtgtgatgcaatcaaatgtcctattaattaattattatttcatgtca c.*480
. . . . . . g.136766
tttgtagctactgatacagcagaaatgaagggaactgtaattacttgtatttttgtaagc c.*540
. . . . . . g.136826
catacgttaaatgtttgttacatcatctttctgcttctatttttatgccaatgaaggcat c.*600
. . . . . . g.136886
ttgtcttgttactaattacatgatgtaactacttcttgatataaataaatttttatttta c.*660
. . . . . . g.136946
attactaaaatctttttaactactatggagctttctagactagttttctagaggttgaat c.*720
. . . . . . g.137006
agaggtggggacacccgggagtcaaggacagagagactggagtcttcttcttccaccatg c.*780
. . . . . . g.137066
gaaccttggataagtgagtccatgtgagttttctaatcactcagtaagtgatacttctaa c.*840
. . . . . . g.137126
aaaaggaaagagtcattcaaataattgtgacattctgactcagattagaatctcagaacc c.*900
. . . . . . g.137186
atgacagctgagaacatccccaggcactgcttctctctctaataatacttcctctgatgt c.*960
. . . . . . g.137246
aattaacggttggtagacaatatcagacaaatttgccacaattaaattactgatattttg c.*1020
g.137247
a c.*1021
(downstream sequence)
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