(used for variant description)
(last modified June 11, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000271.4 in the NPC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012795.1, covering NPC1 transcript NM_000271.4.
(upstream sequence)
. . . g.5034
gaagggcaacacggggaccttgaagcggggtcgc c.-241
. . . . . . g.5094
ggcggcgccccagcccgggccagggagtcccggcagcggcacctcccagaaagggcggag c.-181
. . . . . . g.5154
ccgacgacgccttcttccttcctgaccggcgcgcgcagcctgctgccgcggtcagcgcct c.-121
. . . . . . g.5214
gctcctgctcctccgctcctcctgcgcggggtgctgaaacagcccggggaagtagagccg c.-61
. . . . . . g.5274
cctccggggagcccaaccagccgaacgccgccggcgtcagcagccttgcgcggccacagc c.-1
. . . . . | 02. g.18046
ATGACCGCTCGCGGCCTGGCCCTTGGCCTCCTCCTGCTGCTACTGTGTCCAGCGCAG | GTG c.60
M T A R G L A L G L L L L L L C P A Q | V p.20
. . . . . . g.18106
TTTTCACAGTCCTGTGTTTGGTATGGAGAGTGTGGAATTGCATATGGGGACAAGAGGTAC c.120
F S Q S C V W Y G E C G I A Y G D K R Y p.40
. . . . . . g.18166
AATTGCGAATATTCTGGCCCACCAAAACCATTGCCAAAGGATGGATATGACTTAGTGCAG c.180
N C E Y S G P P K P L P K D G Y D L V Q p.60
| 03 . . . . . . g.19497
| GAACTCTGTCCAGGATTCTTCTTTGGCAATGTCAGTCTCTGTTGTGATGTTCGGCAGCTT c.240
| E L C P G F F F G N V S L C C D V R Q L p.80
. . . . | 04. . g.22632
CAGACACTAAAAGACAACCTGCAGCTGCCTCTACAGTTTCTGTCCAG | ATGTCCATCCTGT c.300
Q T L K D N L Q L P L Q F L S R | C P S C p.100
. . . . . . g.22692
TTTTATAACCTACTGAACCTGTTTTGTGAGCTGACATGTAGCCCTCGACAGAGTCAGTTT c.360
F Y N L L N L F C E L T C S P R Q S Q F p.120
. . . . . . g.22752
TTGAATGTTACAGCTACTGAAGATTATGTTGATCCTGTTACAAACCAGACGAAAACAAAT c.420
L N V T A T E D Y V D P V T N Q T K T N p.140
. . . . | 05 . . g.30107
GTGAAAGAGTTACAATACTACGTCGGACAGAGTTTTGCCAATG | CAATGTACAATGCCTGC c.480
V K E L Q Y Y V G Q S F A N A | M Y N A C p.160
. . . . . . g.30167
CGGGATGTGGAGGCCCCCTCAAGTAATGACAAGGCCCTGGGACTCCTGTGTGGGAAGGAC c.540
R D V E A P S S N D K A L G L L C G K D p.180
. . . . . . g.30227
GCTGACGCCTGTAATGCCACCAACTGGATTGAATACATGTTCAATAAGGACAATGGACAG c.600
A D A C N A T N W I E Y M F N K D N G Q p.200
. . . | 06 . . . g.31166
GCACCTTTTACCATCACTCCTGTGTTTTCAG | ATTTTCCAGTCCATGGGATGGAGCCCATG c.660
A P F T I T P V F S D | F P V H G M E P M p.220
. . . . . . g.31226
AACAATGCCACCAAAGGCTGTGACGAGTCTGTGGATGAGGTCACAGCACCATGTAGCTGC c.720
N N A T K G C D E S V D E V T A P C S C p.240
. . . . . . g.31286
CAAGACTGCTCTATTGTCTGTGGCCCCAAGCCCCAGCCCCCACCTCCTCCTGCTCCCTGG c.780
Q D C S I V C G P K P Q P P P P P A P W p.260
. . . . . . g.31346
ACGATCCTTGGCTTGGACGCCATGTATGTCATCATGTGGATCACCTACATGGCGTTTTTG c.840
T I L G L D A M Y V I M W I T Y M A F L p.280
. . . . | 07 . . g.34446
CTTGTGTTTTTTGGAGCATTTTTTGCAGTGTGGTGCTACAG | AAAACGGTATTTTGTCTCC c.900
L V F F G A F F A V W C Y R | K R Y F V S p.300
. . . . . | 08 . g.35009
GAGTACACTCCCATCGATAGCAATATAGCTTTTTCTGTTAATGCAAGTGACAAAG | GAGAG c.960
E Y T P I D S N I A F S V N A S D K G | E p.320
. . . . . . g.35069
GCGTCCTGCTGTGACCCTGTCAGCGCAGCATTTGAGGGCTGCTTGAGGCGGCTGTTCACA c.1020
A S C C D P V S A A F E G C L R R L F T p.340
. . . . . . g.35129
CGCTGGGGGTCTTTCTGCGTCCGAAACCCTGGCTGTGTCATTTTCTTCTCGCTGGTCTTC c.1080
R W G S F C V R N P G C V I F F S L V F p.360
. . . . . . g.35189
ATTACTGCGTGTTCGTCAGGCCTGGTGTTTGTCCGGGTCACAACCAATCCAGTTGACCTC c.1140
I T A C S S G L V F V R V T T N P V D L p.380
. . . . . . g.35249
TGGTCAGCCCCCAGCAGCCAGGCTCGCCTGGAAAAAGAGTACTTTGACCAGCACTTTGGG c.1200
W S A P S S Q A R L E K E Y F D Q H F G p.400
. . . . . . g.35309
CCTTTCTTCCGGACGGAGCAGCTCATCATCCGGGCCCCTCTCACTGACAAACACATTTAC c.1260
P F F R T E Q L I I R A P L T D K H I Y p.420
. . . . . . g.35369
CAGCCATACCCTTCGGGAGCTGATGTACCCTTTGGACCTCCGCTTGACATACAGATACTG c.1320
Q P Y P S G A D V P F G P P L D I Q I L p.440
| 09 . . . . . . g.36687
CACCAG | GTTCTTGACTTACAAATAGCCATCGAAAACATTACTGCCTCTTATGACAATGAG c.1380
H Q | V L D L Q I A I E N I T A S Y D N E p.460
. . . . . . g.36747
ACTGTGACACTTCAAGACATCTGCTTGGCCCCTCTTTCACCGTATAACACGAACTGCACC c.1440
T V T L Q D I C L A P L S P Y N T N C T p.480
. . . . . . g.36807
ATTTTGAGTGTGTTAAATTACTTCCAGAACAGCCATTCCGTGCTGGACCACAAGAAAGGG c.1500
I L S V L N Y F Q N S H S V L D H K K G p.500
. . . . . | 10 . g.39897
GACGACTTCTTTGTGTATGCCGATTACCACACGCACTTTCTGTACTGCGTACG | GGCTCCT c.1560
D D F F V Y A D Y H T H F L Y C V R | A P p.520
. . . . . . g.39957
GCCTCTCTGAATGATACAAGTTTGCTCCATGACCCTTGTCTGGGTACGTTTGGTGGACCA c.1620
A S L N D T S L L H D P C L G T F G G P p.540
. . . | 11 . . . g.43535
GTGTTCCCGTGGCTTGTGTTGGGAGGCTATGATG | ATCAAAACTACAATAACGCCACTGCC c.1680
V F P W L V L G G Y D D | Q N Y N N A T A p.560
. . . . . . g.43595
CTTGTGATTACCTTCCCTGTCAATAATTACTATAATGATACAGAGAAGCTCCAGAGGGCC c.1740
L V I T F P V N N Y Y N D T E K L Q R A p.580
. | 12. . . . . g.46511
CAGGCCTGGGAAAAAGA | GTTTATTAATTTTGTGAAAAACTACAAGAATCCCAATCTGACC c.1800
Q A W E K E | F I N F V K N Y K N P N L T p.600
. . . . . . g.46571
ATTTCCTTCACTGCTGAACGAAGTATTGAAGATGAACTAAATCGTGAAAGTGACAGTGAT c.1860
I S F T A E R S I E D E L N R E S D S D p.620
. . . . . . g.46631
GTCTTCACCGTTGTAATTAGCTATGCCATCATGTTTCTATATATTTCCCTAGCCTTGGGG c.1920
V F T V V I S Y A I M F L Y I S L A L G p.640
. . | 13. . . . g.47124
CACATGAAAAGCTGTCGCAGGCTTCTG | GTGGATTCGAAGGTCTCACTAGGCATCGCGGGC c.1980
H M K S C R R L L | V D S K V S L G I A G p.660
. . . . . . g.47184
ATCTTGATCGTGCTGAGCTCGGTGGCTTGCTCCTTGGGTGTCTTCAGCTACATTGGGTTG c.2040
I L I V L S S V A C S L G V F S Y I G L p.680
. . . . . . g.47244
CCCTTGACCCTCATTGTGATTGAAGTCATCCCGTTCCTGGTGCTGGCTGTTGGAGTGGAC c.2100
P L T L I V I E V I P F L V L A V G V D p.700
. . . | 14 . . . g.48078
AACATCTTCATTCTGGTGCAGGCCTACCAG | AGAGATGAACGTCTTCAAGGGGAAACCCTG c.2160
N I F I L V Q A Y Q | R D E R L Q G E T L p.720
. . . . . . g.48138
GATCAGCAGCTGGGCAGGGTCCTAGGAGAAGTGGCTCCCAGTATGTTCCTGTCATCCTTT c.2220
D Q Q L G R V L G E V A P S M F L S S F p.740
. . | 15 . . . . g.50219
TCTGAGACTGTAGCATTTTTCTTAG | GAGCATTGTCCGTGATGCCAGCCGTGCACACCTTC c.2280
S E T V A F F L G | A L S V M P A V H T F p.760
. . . . . . g.50279
TCTCTCTTTGCGGGATTGGCAGTCTTCATTGACTTTCTTCTGCAGATTACCTGTTTCGTG c.2340
S L F A G L A V F I D F L L Q I T C F V p.780
. . . | 16 . . . g.50436
AGTCTCTTGGGGTTAGACATTAAACGTCAAGAG | AAAAATCGGCTAGACATCTTTTGCTGT c.2400
S L L G L D I K R Q E | K N R L D I F C C p.800
. . . . . . g.50496
GTCAGAGGTGCTGAAGATGGAACAAGCGTCCAGGCCTCAGAGAGCTGTTTGTTTCGCTTC c.2460
V R G A E D G T S V Q A S E S C L F R F p.820
. . . . . | 17 . g.51086
TTCAAAAACTCCTATTCTCCACTTCTGCTAAAGGACTGGATGAGACCAATTGTG | ATAGCA c.2520
F K N S Y S P L L L K D W M R P I V | I A p.840
. . . . . . g.51146
ATATTTGTGGGTGTTCTGTCATTCAGCATCGCAGTCCTGAACAAAGTAGATATTGGATTG c.2580
I F V G V L S F S I A V L N K V D I G L p.860
. . | 18 . . . . g.51652
GATCAGTCTCTTTCGATGCCAGAT | GACTCCTACATGGTGGATTATTTCAAATCCATCAGT c.2640
D Q S L S M P D | D S Y M V D Y F K S I S p.880
. . . . . . g.51712
CAGTACCTGCATGCGGGTCCGCCTGTGTACTTTGTCCTGGAGGAAGGGCACGACTACACT c.2700
Q Y L H A G P P V Y F V L E E G H D Y T p.900
. . . . . . g.51772
TCTTCCAAGGGGCAGAACATGGTGTGCGGCGGCATGGGCTGCAACAATGATTCCCTGGTG c.2760
S S K G Q N M V C G G M G C N N D S L V p.920
. . . | 19 . . . g.52172
CAGCAGATATTTAACGCGGCGCAGCTGGACAACTA | TACCCGAATAGGCTTCGCCCCCTCG c.2820
Q Q I F N A A Q L D N Y | T R I G F A P S p.940
. . . . . . g.52232
TCCTGGATCGACGATTATTTCGACTGGGTGAAGCCACAGTCGTCTTGCTGTCGAGTGGAC c.2880
S W I D D Y F D W V K P Q S S C C R V D p.960
. . . | 20 . . . g.52975
AATATCACTGACCAGTTCTGCAATGCTTCAG | TGGTTGACCCTGCCTGCGTTCGCTGCAGG c.2940
N I T D Q F C N A S V | V D P A C V R C R p.980
. . . . . . g.53035
CCTCTGACTCCGGAAGGCAAACAGAGGCCTCAGGGGGGAGACTTCATGAGATTCCTGCCC c.3000
P L T P E G K Q R P Q G G D F M R F L P p.1000
. . . . | 21 . . g.54760
ATGTTCCTTTCGGATAACCCTAACCCCAAGTGTGGCAAAGG | GGGACATGCTGCCTATAGT c.3060
M F L S D N P N P K C G K G | G H A A Y S p.1020
. . . . . . g.54820
TCTGCAGTTAACATCCTCCTTGGCCATGGCACCAGGGTCGGAGCCACGTACTTCATGACC c.3120
S A V N I L L G H G T R V G A T Y F M T p.1040
. . . . . . g.54880
TACCACACCGTGCTGCAGACCTCTGCTGACTTTATTGACGCTCTGAAGAAAGCCCGACTT c.3180
Y H T V L Q T S A D F I D A L K K A R L p.1060
. . . . . . g.54940
ATAGCCAGTAATGTCACCGAAACCATGGGCATTAACGGCAGTGCCTACCGAGTATTTCCT c.3240
I A S N V T E T M G I N G S A Y R V F P p.1080
| 22 . . . . . . g.55972
TACAG | TGTGTTTTATGTCTTCTACGAACAGTACCTGACCATCATTGACGACACTATCTTC c.3300
Y S | V F Y V F Y E Q Y L T I I D D T I F p.1100
. . . . . . g.56032
AACCTCGGTGTGTCCCTGGGCGCGATATTTCTGGTGACCATGGTCCTCCTGGGCTGTGAG c.3360
N L G V S L G A I F L V T M V L L G C E p.1120
. . . . . . g.56092
CTCTGGTCTGCAGTCATCATGTGTGCCACCATCGCCATGGTCTTGGTCAACATGTTTGGA c.3420
L W S A V I M C A T I A M V L V N M F G p.1140
. . . . . | 23. g.57061
GTTATGTGGCTCTGGGGCATCAGTCTGAACGCTGTATCCTTGGTCAACCTGGTGATG | AGC c.3480
V M W L W G I S L N A V S L V N L V M | S p.1160
. . . . . . g.57121
TGTGGCATCTCCGTGGAGTTCTGCAGCCACATAACCAGAGCGTTCACGGTGAGCATGAAA c.3540
C G I S V E F C S H I T R A F T V S M K p.1180
. . . . . | 24 . g.58109
GGCAGCCGCGTGGAGCGCGCGGAAGAGGCACTTGCCCACATGGGCAGCTCC | GTGTTCAGT c.3600
G S R V E R A E E A L A H M G S S | V F S p.1200
. . . . . . g.58169
GGAATCACACTTACAAAATTTGGAGGGATTGTGGTGTTGGCTTTTGCCAAATCTCAAATT c.3660
G I T L T K F G G I V V L A F A K S Q I p.1220
. . . . . . g.58229
TTCCAGATATTCTACTTCAGGATGTATTTGGCCATGGTCTTACTGGGAGCCACTCACGGA c.3720
F Q I F Y F R M Y L A M V L L G A T H G p.1240
. . . | 25 . . . g.59359
TTAATATTTCTCCCTGTCTTACTCAGTTACATAG | GGCCATCAGTAAATAAAGCCAAAAGT c.3780
L I F L P V L L S Y I G | P S V N K A K S p.1260
. . . . . g.59416
TGTGCCACTGAAGAGCGATACAAAGGAACAGAGCGCGAACGGCTTCTAAATTTCTAG c.3837
C A T E E R Y K G T E R E R L L N F X p.1278
. . . . . . g.59476
ccctctcgcagggcatcctgactgaactgtgtctaagggtcggtcggtttaccactggac c.*60
. . . . . . g.59536
gggtgctgcatcggcaaggccaagttgaacaccggatggtgccaaccatcggttgtttgg c.*120
. . . . . . g.59596
cagcagctttgaacgtagcgcctgtgaactcaggaatgcacagttgacttgggaagcagt c.*180
. . . . . . g.59656
attactagatctggaggcaaccacaggacactaaacttctcccagcctcttcaggaaaga c.*240
. . . . . . g.59716
aacctcattctttggcaagcaggaggtgacactagatggctgtgaatgtgatccgctcac c.*300
. . . . . . g.59776
tgacactctgtaaaggccaatcaatgcactgtctgtctctccttttaggagtaagccatc c.*360
. . . . . . g.59836
ccacaagttctataccatatttttagtgacagttgaggttgtagatacactttataacat c.*420
. . . . . . g.59896
tttatagtttaaagagctttattaatgcaataaattaactttgtacacatttttatataa c.*480
. . . . . . g.59956
aaaaacagcaagtgatttcagaatgttgtaggcctcattagagcttggtctccaaaaatc c.*540
. . . . . . g.60016
tgtttgaaaaaagcaacatgttcttcacagtgttcccctagaaaggaagagatttaattg c.*600
. . . . . . g.60076
ccagttagatgtggcatgaaatgagggacaaagaaagcatctcgtaggtgtgtctactgg c.*660
. . . . g.60119
gttttaacttatttttctttaataaaatacattgttttcctaa c.*703
(downstream sequence)
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