(used for variant description)
(last modified August 28, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_020843.2 in the SCAPER gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering SCAPER transcript NM_020843.2.
(upstream sequence)
. . . . . g.5059
gagtcatactccatgggtttatgtgataaatgatcttggcatagaagagaatttaaaga c.-1
| 02 . . . . . . g.26397
ATGATG | GCTTCATTCCAGCGCTCCAATAGTCATGACAAAGTAAGGAGAATAGTTGCAGAG c.60
M M | A S F Q R S N S H D K V R R I V A E p.20
. . . . . . g.26457
GAGGGTCGTACAGCAAGAAACCTAATAGCTTGGAGTGTTCCACTAGAAAGCAAAGATGAT c.120
E G R T A R N L I A W S V P L E S K D D p.40
| 03 . . . . . . g.31053
GATG | GAAAACCTAAATGTCAAACTGGTGGAAAATCTAAGAGGACCATTCAAGGCACTCAT c.180
D G | K P K C Q T G G K S K R T I Q G T H p.60
. | 04 . . . . . g.46990
AAAACTACTAAACAG | AGTACTGCAGTGGACTGTAAAATAACATCGTCTACGACTGGAGAT c.240
K T T K Q | S T A V D C K I T S S T T G D p.80
. . . . . . g.47050
AAACACTTTGATAAAAGTCCCACTAAAACAAGGCACCCTCGGAAAATTGATCTAAGAGCT c.300
K H F D K S P T K T R H P R K I D L R A p.100
. . . . . . g.47110
CGATACTGGGCATTTCTTTTTGATAATCTTCGCCGAGCAGTAGATGAAATCTATGTAACT c.360
R Y W A F L F D N L R R A V D E I Y V T p.120
. . . | 05 . . . g.84270
TGCGAATCAGATCAGAGTGTGGTCGAATGTAAG | GAGGTGCTAATGATGCTGGATAACTAT c.420
C E S D Q S V V E C K | E V L M M L D N Y p.140
. . . . . . g.84330
GTAAGAGATTTCAAAGCATTGATTGACTGGATTCAGCTTCAGGAAAAGCTAGAGAAGACA c.480
V R D F K A L I D W I Q L Q E K L E K T p.160
. | 06 . . . . . g.88558
GATGCTCAAAGCAG | ACCAACATCATTGGCATGGGAAGTAAAGAAGATGTCTCCGGGACGC c.540
D A Q S R | P T S L A W E V K K M S P G R p.180
. . . . . . g.88618
CATGTGATTCCAAGTCCATCAACAGATAGAATAAATGTAACATCAAATGCTCGACGAAGC c.600
H V I P S P S T D R I N V T S N A R R S p.200
. | 07 . . . . . g.93485
TTAAATTTTGG | AGGTTCAACTGGCACAGTGCCAGCTCCTCGTCTGGCTCCCACAGGTGTC c.660
L N F G | G S T G T V P A P R L A P T G V p.220
. . . . . . g.93545
AGTTGGGCTGACAAGGTAAAGGCTCATCATACAGGCTCTACTGCTTCTTCAGAAATAACA c.720
S W A D K V K A H H T G S T A S S E I T p.240
. . . . . | 08 . g.113767
CCCGCCCAGTCTTGCCCACCAATGACAGTGCAGAAGGCCTCACGCAAAAATG | AACGGAAA c.780
P A Q S C P P M T V Q K A S R K N E | R K p.260
. . . . . . g.113827
GATGCTGAAGGATGGGAGACCGTTCAGAGAGGAAGGCCTATTCGTTCTCGATCAACAGCA c.840
D A E G W E T V Q R G R P I R S R S T A p.280
. . . . . . g.113887
GTGATGCCAAAAGTTTCATTGGCAACAGAAGCCACAAGATCAAAGGATGACAGTGATAAA c.900
V M P K V S L A T E A T R S K D D S D K p.300
. . . . . . g.113947
GAAAATGTATGTCTTTTACCTGATGAAAGCATACAGAAAGGTCAATTTGTTGGAGATGGA c.960
E N V C L L P D E S I Q K G Q F V G D G p.320
. . . . . . g.114007
ACTTCTAATACTATAGAATCTCATCCCAAAGACTCATTACACTCTTGTGACCATCCTCTT c.1020
T S N T I E S H P K D S L H S C D H P L p.340
. | 09 . . . . . g.116967
GCCGAAAAAACCCAG | TTCACAGTGAGTACATTGGATGATGTGAAGAATTCTGGCAGTATT c.1080
A E K T Q | F T V S T L D D V K N S G S I p.360
. . . . . . g.117027
CGAGACAATTATGTTCGAACTTCTGAAATATCTGCTGTCCACATTGATACAGAGTGTGTT c.1140
R D N Y V R T S E I S A V H I D T E C V p.380
. . . . . . g.117087
TCAGTTATGCTGCAAGCTGGTACACCTCCTTTACAAGTAAATGAAGAAAAATTTCCAGCA c.1200
S V M L Q A G T P P L Q V N E E K F P A p.400
. . . . | 10 . g.121800
GAGAAAGCAAGGATAGAAAATGAAATGGACCCTTCAGATATTTCAAAT | TCCATGGCAGAA c.1260
E K A R I E N E M D P S D I S N | S M A E p.420
. . . . . . g.121860
GTCCTTGCTAAAAAAGAAGAGCTAGCAGATCGTCTAGAAAAGGCCAATGAAGAAGCCATT c.1320
V L A K K E E L A D R L E K A N E E A I p.440
. . . . . . g.121920
GCTAGTGCTATTGCTGAAGAAGAACAGTTAACTAGAGAAATTGAAGCTGAAGAAAACAAT c.1380
A S A I A E E E Q L T R E I E A E E N N p.460
. . . | 11 . . g.123259
GATATTAACATTGAAACTGACAACGACAGTGATTTTTCT | GCCAGCATGGGCAGTGGGAGT c.1440
D I N I E T D N D S D F S | A S M G S G S p.480
. . . . . | 12 . g.123427
GTTTCTTTCTGTGGTATGTCCATGGACTGGAACGATGTCCTTGCAGATTATGAAG | CTCGT c.1500
V S F C G M S M D W N D V L A D Y E A | R p.500
. . . . . . g.123487
GAGTCTTGGCGCCAAAATACATCCTGGGGGGACATTGTAGAAGAAGAACCTGCTAGACCT c.1560
E S W R Q N T S W G D I V E E E P A R P p.520
. . . . . | 13 . g.123811
CCAGGGCATGGAATTCACATGCATGAAAAACTTTCTTCACCCTCTCGTAAAAG | AACAATT c.1620
P G H G I H M H E K L S S P S R K R | T I p.540
. . . . . . g.123871
GCAGAATCTAAGAAGAAACATGAAGAAAAACAAATGAAAGCACAGCAGCTAAGGGAAAAG c.1680
A E S K K K H E E K Q M K A Q Q L R E K p.560
. . . . | 14 . . g.134943
TTACGCGAAGAGAAAACATTGAAGCTTCAGAAATTGTTAGAAAGG | GAGAAGGATGTCCGG c.1740
L R E E K T L K L Q K L L E R | E K D V R p.580
. . . . . . g.135003
AAGTGGAAGGAAGAATTGCTAGATCAACGACGCAGGATGATGGAAGAAAAATTACTTCAT c.1800
K W K E E L L D Q R R R M M E E K L L H p.600
. . . . . . g.135063
GCTGAGTTTAAGCGAGAAGTGCAGTTACAAGCAATTGTGAAAAAAGCACAAGAAGAAGAA c.1860
A E F K R E V Q L Q A I V K K A Q E E E p.620
| 15 . . . . . . g.155546
GCTAAG | GTAAATGAAATTGCCTTTATAAATACCCTTGAAGCCCAGAATAAACGTCATGAT c.1920
A K | V N E I A F I N T L E A Q N K R H D p.640
. . . . . . g.155606
GTTTTATCAAAATTGAAGGAATATGAACAGAGGCTTAATGAGCTACAGGAAGAGCGTCAG c.1980
V L S K L K E Y E Q R L N E L Q E E R Q p.660
. . . . | 16 . . g.160157
AGAAGACAGGAAGAAAAGCAAGCACGTGATGAAGCTGTGCAG | GAACGCAAGAGAGCTCTA c.2040
R R Q E E K Q A R D E A V Q | E R K R A L p.680
. . . . . . g.160217
GAGGCAGAGCGGCAGGCCCGTGTAGAAGAATTGTTAATGAAGAGGAAAGAACAAGAAGCC c.2100
E A E R Q A R V E E L L M K R K E Q E A p.700
. . . . . . g.160277
CGAATTGAACAACAGAGGCAAGAAAAGGAAAAAGCCCGTGAGGATGCAGCCCGGGAAAGA c.2160
R I E Q Q R Q E K E K A R E D A A R E R p.720
| 17 . . . . . . g.182947
GCTAG | AGACAGGGAAGAACGATTGGCAGCACTCACAGCTGCTCAACAAGAAGCTATGGAA c.2220
A R | D R E E R L A A L T A A Q Q E A M E p.740
. . | 18. . . . g.185907
GAGTTACAGAAAAAAATTCAGCTCAAG | CATGATGAAAGTATTCGAAGGCACATGGAACAG c.2280
E L Q K K I Q L K | H D E S I R R H M E Q p.760
. . . . . . g.185967
ATTGAACAAAGAAAAGAAAAAGCTGCTGAGCTAAGCAGTGGGCGACATGCAAATACTGAT c.2340
I E Q R K E K A A E L S S G R H A N T D p.780
. . . . . . g.186027
TATGCCCCCAAACTGACCCCTTATGAAAGAAAGAAGCAGTGTTCTCTCTGCAATGTCCTG c.2400
Y A P K L T P Y E R K K Q C S L C N V L p.800
| 19 . . . . . . g.187071
| ATCTCTTCAGAGGTATATCTTTTTAGCCATGTTAAAGGGAGAAAACACCAGCAAGCCGTG c.2460
| I S S E V Y L F S H V K G R K H Q Q A V p.820
. . . . | 20 . g.223099
AGAGAGAATACCAGCATCCAGGGGCGTGAACTGTCAGATGAAGAAGTG | GAGCATCTTTCC c.2520
R E N T S I Q G R E L S D E E V | E H L S p.840
. . . . . . g.223159
TTGAAGAAGTACATTATTGACATTGTGGTTGAAAGTACAGCTCCAGCAGAAGCTTTGAAA c.2580
L K K Y I I D I V V E S T A P A E A L K p.860
. . . . . . g.223219
GATGGAGAAGAGCGGCAAAAAAATAAAAAAAAAGCCAAAAAGATAAAAGCCCGGATGAAC c.2640
D G E E R Q K N K K K A K K I K A R M N p.880
| 21 . . . . . . g.267102
TTCAG | GGCTAAGGAATATGAGAGTTTAATGGAAACCAAAAATTCTGGCTCTGATTCACCT c.2700
F R | A K E Y E S L M E T K N S G S D S P p.900
. | 22 . . . . . g.314641
TATAAAGCAAA | GCTTCAGCGATTAGCCAAAGATCTTCTAAAACAAGTACAAGTTCAAGAC c.2760
Y K A K | L Q R L A K D L L K Q V Q V Q D p.920
. . . . . . g.314701
AGTGGCTCATGGGCAAACAATAAAGTGTCTGCTTTGGATCGGACCCTAGGAGAGATCACT c.2820
S G S W A N N K V S A L D R T L G E I T p.940
. | 23 . . . . g.383944
AGAATACTGGAAAAAGAG | AATGTGGCAGATCAGATTGCATTTCAAGCTGCTGGTGGATTA c.2880
R I L E K E | N V A D Q I A F Q A A G G L p.960
. . . . . . g.384004
ACAGCCCTTGAACACATCCTTCAAGCAGTAGTCCCAGCCACAAATGTGAACACAGTTTTA c.2940
T A L E H I L Q A V V P A T N V N T V L p.980
. | 24 . . . . . g.417587
AGAATTCCTCCTAA | GTCTCTCTGCAATGCAATCAATGTTTACAACCTCACCTGCAATAAC c.3000
R I P P K | S L C N A I N V Y N L T C N N p.1000
. . . . . . g.417647
TGTTCAGAAAACTGCAGTGATGTTCTGTTTAGTAACAAGATTACCTTCTTAATGGACCTC c.3060
C S E N C S D V L F S N K I T F L M D L p.1020
. | 25 . . . . g.454608
CTGATACACCAGTTGACG | GTTTATGTTCCAGATGAAAATAATACTATTTTGGGGAGAAAT c.3120
L I H Q L T | V Y V P D E N N T I L G R N p.1040
. . . . . . g.454668
ACAAATAAACAAGTTTTTGAAGGCTTGACAACTGGACTTCTCAAAGTCAGTGCTGTGGTT c.3180
T N K Q V F E G L T T G L L K V S A V V p.1060
. . . . . . g.454728
TTGGGCTGCCTGATTGCCAATCGACCAGATGGAAACTGCCAGCCAGCTACCCCAAAAATA c.3240
L G C L I A N R P D G N C Q P A T P K I p.1080
. . . . . . g.454788
CCAACACAGGAAATGAAAAACAAACCCTCACAAGGTGATCCTTTTAACAATCGAGTTCAG c.3300
P T Q E M K N K P S Q G D P F N N R V Q p.1100
. | 26 . . . . . g.484246
GACCTTATCAG | CTACGTGGTGAACATGGGTCTGATTGACAAACTGTGTGCCTGCTTCCTC c.3360
D L I S | Y V V N M G L I D K L C A C F L p.1120
. . . . . . g.484306
TCGGTGCAAGGCCCAGTGGATGAGAATCCCAAGATGGCCATATTTCTGCAGCATGCCGCA c.3420
S V Q G P V D E N P K M A I F L Q H A A p.1140
. . . . | 27. . g.507274
GGACTCTTACATGCAATGTGTACACTGTGCTTTGCTGTCACTGGAAG | GTCATACAGCATA c.3480
G L L H A M C T L C F A V T G R | S Y S I p.1160
. . . . . . g.507334
TTTGACAATAATCGCCAGGATCCCACAGGGCTGACAGCTGCTCTTCAGGCAACCGACCTG c.3540
F D N N R Q D P T G L T A A L Q A T D L p.1180
. . . . . . g.507394
GCTGGAGTTCTTCATATGCTCTACTGTGTCCTCTTCCATGGCACCATCTTGGACCCCAGC c.3600
A G V L H M L Y C V L F H G T I L D P S p.1200
. . . . . . g.507454
ACTGCCAGTCCCAAGGAGAATTACACTCAAAATACCATCCAAGTGGCCATTCAGAGTTTA c.3660
T A S P K E N Y T Q N T I Q V A I Q S L p.1220
. . . . | 28 . . g.512580
CGTTTCTTCAACAGCTTTGCAGCTCTTCATCTGCCTGCTTTTCAG | TCTATTGTAGGGGCA c.3720
R F F N S F A A L H L P A F Q | S I V G A p.1240
. . . . . . g.512640
GAGGGCTTGTCCCTTGCATTCCGGCACATGGCCAGCTCCCTGCTGGGCCACTGCAGCCAA c.3780
E G L S L A F R H M A S S L L G H C S Q p.1260
. . . . . . g.512700
GTCTCCTGTGAAAGCCTCCTTCATGAGGTCATCGTCTGTGTGGGCTACTTCACTGTCAAC c.3840
V S C E S L L H E V I V C V G Y F T V N p.1280
. | 29 . . . . . g.534781
CACCCAGATAACCAG | GTGATCGTGCAGTCCGGCCGCCACCCCACAGTGCTGCAGAAGCTC c.3900
H P D N Q | V I V Q S G R H P T V L Q K L p.1300
. . . . . . g.534841
TGCCAGTTGCCCTTCCAGTATTTCAGTGACCCACGGCTGATCAAAGTACTGTTCCCTTCA c.3960
C Q L P F Q Y F S D P R L I K V L F P S p.1320
. . . . . . g.534901
CTTATCGCTGCTTGTTACAACAACCATCAGAACAAGATCATTCTGGAGCAAGAGATGAGC c.4020
L I A A C Y N N H Q N K I I L E Q E M S p.1340
. . | 30. . . . g.537621
TGTGTTTTACTGGCCACTTTCATTCAG | GATTTGGCACAGACTCCAGGTCAAGCGGAAAAC c.4080
C V L L A T F I Q | D L A Q T P G Q A E N p.1360
. | 31 . . . . g.540181
CAGCCTTACCAACCCAAAG | GGAAATGCCTTGGTTCCCAAGACTATCTTGAGCTGGCTAAC c.4140
Q P Y Q P K G | K C L G S Q D Y L E L A N p.1380
. . . . . . g.540241
AGATTTCCTCAGCAGGCCTGGGAAGAAGCTCGACAGTTTTTCTTGAAAAAAGAGAAAAAA c.4200
R F P Q Q A W E E A R Q F F L K K E K K p.1400
g.540244
TAA c.4203
X p.1400
. . . . . . g.540304
atgttttggttgattctgtatttgagtacccttgttaatattttaaattgtccaaacaaa c.*60
. . . . . . g.540364
cattctaattgttccttaagaactcattttcccatgtttatactcttcccacactgtaga c.*120
. . . . . . g.540424
tatggcatgtactttacactatttataatgactgtagatacttgaatgttctacttgcta c.*180
. . . . . . g.540484
attttgcaagttgagtttatttcatttatgcagagtatcttggagtttggtaatttccat c.*240
. . . . . . g.540544
cttatgataatatatactttgcatttgtgatatgggtgaaaggagacataaaattagcaa c.*300
. . . . . . g.540604
gtctgttttgttcttgtaataaagtaacttattctgttttcattgttgacttttcatgtt c.*360
. . . . . . g.540664
aaggaaatacgaatctgaaagaaaaatgttaactccagctcttgaagtatcttaaataaa c.*420
. . g.540692
gacttaattaaagtttacctgctctaaa c.*448
(downstream sequence)
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