(used for variant description)
(last modified December 12, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_013389.2 in the NPC1L1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_013088.1, covering NPC1L1 transcript NM_013389.2.
(upstream sequence)
. . . . . g.5056
cttggctgttcctgaggcctggcctggctccccgctgaccccttcccagacctggg c.-1
. . . . . | 02 . g.5979
ATGGCGGAGGCCGGCCTGAGGGGCTGGCTGCTGTGGGCCCTGCTCCTGCGCTTG | GCCCAG c.60
M A E A G L R G W L L W A L L L R L | A Q p.20
. . . . . . g.6039
AGTGAGCCTTACACAACCATCCACCAGCCTGGCTACTGCGCCTTCTATGACGAATGTGGG c.120
S E P Y T T I H Q P G Y C A F Y D E C G p.40
. . . . . . g.6099
AAGAACCCAGAGCTGTCTGGAAGCCTCATGACACTCTCCAACGTGTCCTGCCTGTCCAAC c.180
K N P E L S G S L M T L S N V S C L S N p.60
. . . . . . g.6159
ACGCCGGCCCGCAAGATCACAGGTGATCACCTGATCCTATTACAGAAGATCTGCCCCCGC c.240
T P A R K I T G D H L I L L Q K I C P R p.80
. . . . . . g.6219
CTCTACACCGGCCCCAACACCCAAGCCTGCTGCTCCGCCAAGCAGCTGGTATCACTGGAA c.300
L Y T G P N T Q A C C S A K Q L V S L E p.100
. . . . . . g.6279
GCGAGTCTGTCGATCACCAAGGCCCTCCTCACCCGCTGCCCAGCCTGCTCTGACAATTTT c.360
A S L S I T K A L L T R C P A C S D N F p.120
. . . . . . g.6339
GTGAACCTGCACTGCCACAACACGTGCAGCCCCAATCAGAGCCTCTTCATCAATGTGACC c.420
V N L H C H N T C S P N Q S L F I N V T p.140
. . . . . . g.6399
CGCGTGGCCCAGCTAGGGGCTGGACAACTCCCAGCTGTGGTGGCCTATGAGGCCTTCTAC c.480
R V A Q L G A G Q L P A V V A Y E A F Y p.160
. . . . . . g.6459
CAGCATAGCTTTGCCGAGCAGAGCTATGACTCCTGCAGCCGTGTGCGCGTCCCTGCAGCT c.540
Q H S F A E Q S Y D S C S R V R V P A A p.180
. . . . . . g.6519
GCCACGCTGGCTGTGGGCACCATGTGTGGCGTGTATGGCTCTGCCCTTTGCAATGCCCAG c.600
A T L A V G T M C G V Y G S A L C N A Q p.200
. . . . . . g.6579
CGCTGGCTCAACTTCCAGGGAGACACAGGCAATGGTCTGGCCCCACTGGACATCACCTTC c.660
R W L N F Q G D T G N G L A P L D I T F p.220
. . . . . . g.6639
CACCTCTTGGAGCCTGGCCAGGCCGTGGGGAGTGGGATTCAGCCTCTGAATGAGGGGGTT c.720
H L L E P G Q A V G S G I Q P L N E G V p.240
. . . . . . g.6699
GCACGTTGCAATGAGTCCCAAGGTGACGACGTGGCGACCTGCTCCTGCCAAGACTGTGCT c.780
A R C N E S Q G D D V A T C S C Q D C A p.260
. . . . . . g.6759
GCATCCTGTCCTGCCATAGCCCGCCCCCAGGCCCTCGACTCCACCTTCTACCTGGGCCAG c.840
A S C P A I A R P Q A L D S T F Y L G Q p.280
. . . . . . g.6819
ATGCCGGGCAGTCTGGTCCTCATCATCATCCTCTGCTCTGTCTTCGCTGTGGTCACCATC c.900
M P G S L V L I I I L C S V F A V V T I p.300
. . . . . . g.6879
CTGCTTGTGGGATTCCGTGTGGCCCCCGCCAGGGACAAAAGCAAGATGGTGGACCCCAAG c.960
L L V G F R V A P A R D K S K M V D P K p.320
. . . . . . g.6939
AAGGGCACCAGCCTCTCTGACAAGCTCAGCTTCTCCACCCACACCCTCCTTGGCCAGTTC c.1020
K G T S L S D K L S F S T H T L L G Q F p.340
. . . . . . g.6999
TTCCAGGGCTGGGGCACGTGGGTGGCTTCGTGGCCTCTGACCATCTTGGTGCTATCTGTC c.1080
F Q G W G T W V A S W P L T I L V L S V p.360
. . . . . . g.7059
ATCCCGGTGGTGGCCTTGGCAGCGGGCCTGGTCTTTACAGAACTCACTACGGACCCCGTG c.1140
I P V V A L A A G L V F T E L T T D P V p.380
. . . . . . g.7119
GAGCTGTGGTCGGCCCCCAACAGCCAAGCCCGGAGTGAGAAAGCTTTCCATGACCAGCAT c.1200
E L W S A P N S Q A R S E K A F H D Q H p.400
. . . . . . g.7179
TTCGGCCCCTTCTTCCGAACCAACCAGGTGATCCTGACGGCTCCTAACCGGTCCAGCTAC c.1260
F G P F F R T N Q V I L T A P N R S S Y p.420
. . . . . . g.7239
AGGTATGACTCTCTGCTGCTGGGGCCCAAGAACTTCAGCGGAATCCTGGACCTGGACTTG c.1320
R Y D S L L L G P K N F S G I L D L D L p.440
. . . . . . g.7299
CTGCTGGAGCTGCTAGAGCTGCAGGAGAGGCTGCGGCACCTCCAGGTATGGTCGCCCGAA c.1380
L L E L L E L Q E R L R H L Q V W S P E p.460
. . . . . . g.7359
GCACAGCGCAACATCTCCCTGCAGGACATCTGCTACGCCCCCCTCAATCCGGACAATACC c.1440
A Q R N I S L Q D I C Y A P L N P D N T p.480
. . . . . . g.7419
AGTCTCTACGACTGCTGCATCAACAGCCTCCTGCAGTATTTCCAGAACAACCGCACGCTC c.1500
S L Y D C C I N S L L Q Y F Q N N R T L p.500
. . . . . . g.7479
CTGCTGCTCACAGCCAACCAGACACTGATGGGGCAGACCTCCCAAGTCGACTGGAAGGAC c.1560
L L L T A N Q T L M G Q T S Q V D W K D p.520
. . | 03 . . . . g.9413
CATTTTCTGTACTGTGCCAA | TGCCCCGCTCACCTTCAAGGATGGCACAGCCCTGGCCCTG c.1620
H F L Y C A N | A P L T F K D G T A L A L p.540
. . . . . . g.9473
AGCTGCATGGCTGACTACGGGGCCCCTGTCTTCCCCTTCCTTGCCATTGGGGGGTACAAA c.1680
S C M A D Y G A P V F P F L A I G G Y K p.560
| 04 . . . . . . g.9946
G | GAAAGGACTATTCTGAGGCAGAGGCCCTGATCATGACGTTCTCCCTCAACAATTACCCT c.1740
G | K D Y S E A E A L I M T F S L N N Y P p.580
. . . . . . g.10006
GCCGGGGACCCCCGTCTGGCCCAGGCCAAGCTGTGGGAGGAGGCCTTCTTAGAGGAAATG c.1800
A G D P R L A Q A K L W E E A F L E E M p.600
. . . . . | 05 . g.10353
CGAGCCTTCCAGCGTCGGATGGCTGGCATGTTCCAGGTCACGTTCATGGCTGAG | CGCTCT c.1860
R A F Q R R M A G M F Q V T F M A E | R S p.620
. . . . . . g.10413
CTGGAAGACGAGATCAATCGCACCACAGCTGAAGACCTGCCCATCTTTGCCACCAGCTAC c.1920
L E D E I N R T T A E D L P I F A T S Y p.640
. . . . . . g.10473
ATTGTCATATTCCTGTACATCTCTCTGGCCCTGGGCAGCTATTCCAGCTGGAGCCGAGTG c.1980
I V I F L Y I S L A L G S Y S S W S R V p.660
| 06 . . . . . . g.11743
ATG | GTGGACTCCAAGGCCACGCTGGGCCTCGGCGGGGTGGCCGTGGTCCTGGGAGCAGTC c.2040
M | V D S K A T L G L G G V A V V L G A V p.680
. . . . . . g.11803
ATGGCTGCCATGGGCTTCTTCTCCTACTTGGGTATCCGCTCCTCCCTGGTCATCCTGCAA c.2100
M A A M G F F S Y L G I R S S L V I L Q p.700
. . . . . . g.11863
GTGGTTCCTTTCCTGGTGCTGTCCGTGGGGGCTGATAACATCTTCATCTTTGTTCTCGAG c.2160
V V P F L V L S V G A D N I F I F V L E p.720
| 07 . . . . . . g.12516
TACCAG | AGGCTGCCCCGGAGGCCTGGGGAGCCACGAGAGGTCCACATTGGGCGAGCCCTA c.2220
Y Q | R L P R R P G E P R E V H I G R A L p.740
. . . . . . g.12576
GGCAGGGTGGCTCCCAGCATGCTGTTGTGCAGCCTCTCTGAGGCCATCTGCTTCTTCCTA c.2280
G R V A P S M L L C S L S E A I C F F L p.760
| 08 . . . . . . g.12816
G | GGGCCCTGACCCCCATGCCAGCTGTGCGGACCTTTGCCCTGACCTCTGGCCTTGCAGTG c.2340
G | A L T P M P A V R T F A L T S G L A V p.780
. . . . . . g.12876
ATCCTTGACTTCCTCCTGCAGATGTCAGCCTTTGTGGCCCTGCTCTCCCTGGACAGCAAG c.2400
I L D F L L Q M S A F V A L L S L D S K p.800
| 09 . . . . . g.14149
AGGCAGGAG | GCCTCCCGGTTGGACGTCTGCTGCTGTGTCAAGCCCCAGGAGCTGCCCCCG c.2460
R Q E | A S R L D V C C C V K P Q E L P P p.820
. . . . . . g.14209
CCTGGCCAGGGAGAGGGGCTCCTGCTTGGCTTCTTCCAAAAGGCTTATGCCCCCTTCCTG c.2520
P G Q G E G L L L G F F Q K A Y A P F L p.840
. . | 10. . . . g.14504
CTGCACTGGATCACTCGAGGTGTTGTG | CTGCTGCTGTTTCTCGCCCTGTTCGGAGTGAGC c.2580
L H W I T R G V V | L L L F L A L F G V S p.860
. . . . . | 11. g.24076
CTCTACTCCATGTGCCACATCAGCGTGGGACTGGACCAGGAGCTGGCCCTGCCCAAG | GAC c.2640
L Y S M C H I S V G L D Q E L A L P K | D p.880
. . . . . . g.24136
TCGTACCTGCTTGACTATTTCCTCTTTCTGAACCGCTACTTCGAGGTGGGGGCCCCGGTG c.2700
S Y L L D Y F L F L N R Y F E V G A P V p.900
. . . . . . g.24196
TACTTTGTTACCACCTTGGGCTACAACTTCTCCAGCGAGGCTGGGATGAATGCCATCTGC c.2760
Y F V T T L G Y N F S S E A G M N A I C p.920
. . . . . . g.24256
TCCAGTGCAGGCTGCAACAACTTCTCCTTCACCCAGAAGATCCAGTATGCCACAGAGTTC c.2820
S S A G C N N F S F T Q K I Q Y A T E F p.940
| 12 . . . . . g.24531
CCTGAGCA | GTCTTACCTGGCCATCCCTGCCTCCTCCTGGGTGGATGACTTCATTGACTGG c.2880
P E Q | S Y L A I P A S S W V D D F I D W p.960
. . . . . . g.24591
CTGACCCCGTCCTCCTGCTGCCGCCTTTATATATCTGGCCCCAATAAGGACAAGTTCTGC c.2940
L T P S S C C R L Y I S G P N K D K F C p.980
. | 13 . . . . . g.25244
CCCTCGACCGTCA | ACTCTCTGAACTGCCTAAAGAACTGCATGAGCATCACGATGGGCTCT c.3000
P S T V N | S L N C L K N C M S I T M G S p.1000
. . . . . . g.25304
GTGAGGCCCTCGGTGGAGCAGTTCCATAAGTATCTTCCCTGGTTCCTGAACGACCGGCCC c.3060
V R P S V E Q F H K Y L P W F L N D R P p.1020
. . | 14 . . . . g.25535
AACATCAAATGTCCCAAAGG | CGGCCTGGCAGCATACAGCACCTCTGTGAACTTGACTTCA c.3120
N I K C P K G | G L A A Y S T S V N L T S p.1040
. | 15 . . . . . g.27693
GATGGCCAGGTTTTAG | ACACAGTTGCCATTCTGTCACCCAGGCTGGAGTACAGTGGCACA c.3180
D G Q V L D | T V A I L S P R L E Y S G T p.1060
. . . | 16. . . g.28981
ATCTCGGCTCACTGCAACCTCTACCTCCTGGATTCAA | CCTCCAGGTTCATGGCCTATCAC c.3240
I S A H C N L Y L L D S T | S R F M A Y H p.1080
. . . . . . g.29041
AAGCCCCTGAAAAACTCACAGGATTACACAGAAGCTCTGCGGGCAGCTCGAGAGCTGGCA c.3300
K P L K N S Q D Y T E A L R A A R E L A p.1100
. . . . . . g.29101
GCCAACATCACTGCTGACCTGCGGAAAGTGCCTGGAACAGACCCGGCTTTTGAGGTCTTC c.3360
A N I T A D L R K V P G T D P A F E V F p.1120
| 17 . . . . . g.29433
CCCTACAC | GATCACCAATGTGTTTTATGAGCAGTACCTGACCATCCTCCCTGAGGGGCTC c.3420
P Y T | I T N V F Y E Q Y L T I L P E G L p.1140
. . . . . . g.29493
TTCATGCTCAGCCTCTGCCTTGTGCCCACCTTCGCTGTCTCCTGCCTCCTGCTGGGCCTG c.3480
F M L S L C L V P T F A V S C L L L G L p.1160
. . . . . . g.29553
GACCTGCGCTCCGGCCTCCTCAACCTGCTCTCCATTGTCATGATCCTCGTGGACACTGTC c.3540
D L R S G L L N L L S I V M I L V D T V p.1180
. . . . . . g.29613
GGCTTCATGGCCCTGTGGGGCATCAGTTACAATGCTGTGTCCCTCATCAACCTGGTCTCG c.3600
G F M A L W G I S Y N A V S L I N L V S p.1200
| 18 . . . . . . g.30178
| GCGGTGGGCATGTCTGTGGAGTTTGTGTCCCACATTACCCGCTCCTTTGCCATCAGCACC c.3660
| A V G M S V E F V S H I T R S F A I S T p.1220
. . . . . | 19 . g.30356
AAGCCCACCTGGCTGGAGAGGGCCAAAGAGGCCACCATCTCTATGGGAAGTGCG | GTGTTT c.3720
K P T W L E R A K E A T I S M G S A | V F p.1240
. . . . . . g.30416
GCAGGTGTGGCCATGACCAACCTGCCTGGCATCCTTGTCCTGGGCCTCGCCAAGGCCCAG c.3780
A G V A M T N L P G I L V L G L A K A Q p.1260
. . . . . . g.30476
CTCATTCAGATCTTCTTCTTCCGCCTCAACCTCCTGATCACTCTGCTGGGCCTGCTGCAT c.3840
L I Q I F F F R L N L L I T L L G L L H p.1280
. . . | 20. . . g.32689
GGCTTGGTCTTCCTGCCCGTCATCCTCAGCTACGTGG | GGCCTGACGTTAACCCGGCTCTG c.3900
G L V F L P V I L S Y V G | P D V N P A L p.1300
. . . . . . g.32749
GCACTGGAGCAGAAGCGGGCTGAGGAGGCGGTGGCAGCAGTCATGGTGGCCTCTTGCCCA c.3960
A L E Q K R A E E A V A A V M V A S C P p.1320
. . . . . . g.32809
AATCACCCCTCCCGAGTCTCCACAGCTGACAACATCTATGTCAACCACAGCTTTGAAGGT c.4020
N H P S R V S T A D N I Y V N H S F E G p.1340
. . . . . . g.32869
TCTATCAAAGGTGCTGGTGCCATCAGCAACTTCTTGCCCAACAATGGGCGGCAGTTCTGA c.4080
S I K G A G A I S N F L P N N G R Q F X p.1359
. . . . . . g.32929
tacagccagaggccctgtctaggctctatggccctgaaccaaagggttatggggatcttc c.*60
. . . . . . g.32989
cttgtgactgccccttgacacacgccctcctcaaatcctaggggaggccattcccatgag c.*120
. . . . . . g.33049
actgcctgtcactggaggatggcctgctcttgaggtatccaggcagcaccactgatggct c.*180
. . . . . . g.33109
cctctgctcccatagtgggtccccagtttccaagtcacctaggccttgggcagtgcctcc c.*240
. . . . . . g.33169
tcctgggcctgggtctggaagttggcaggaacagacacactccatgtttgtcccacactc c.*300
. . . . . . g.33229
actcactttcctaggagcccacttctcatccaacttttcccttctcagttcctctctcga c.*360
. . . . . . g.33289
aagtcttaattctgtgtcagtaagtctttaacacgtagcagtgtccctgagaacacagac c.*420
. . . . . . g.33349
aatgaccactaccctgggtgtgatatcacaggaggccagagagaggcaaaggctcaggcc c.*480
. . . . . . g.33409
aagagccaacgctgtgggaggccggtcggcagccactccctccagggcgcacctgcaggt c.*540
. . . . . . g.33469
ctgccatccacggccttttctggcaagagaagggcccaggaaggatgctctcataaggcc c.*600
. . . . . . g.33529
caggaaggatgctctcataagcaccttggtcatggattagcccctcctggaaaatggtgt c.*660
. . . . . . g.33589
tgggtttggtctccagctccaatacttattaaggctgttgctgccagtcaaggccaccca c.*720
. . . . . . g.33649
ggagtctgaaggctgggagctcttggggctgggctggtcctcccatcttcacctcgggcc c.*780
. . . . . . g.33709
tggatcccaggcctcaaaccagcccaacccgagcttttggacagctctccagaagcatga c.*840
. . . . . . g.33769
actgcagtggagatgaagatcctggctctgtgctgtgcacataggtgtttaataaacatt c.*900
. g.33781
tgttggcagaaa c.*912
(downstream sequence)
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