(used for variant description)
(last modified July 24, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000195.3 in the HPS1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009646.1, covering HPS1 transcript NM_000195.3.
(upstream sequence)
g.5006
ggtcct c.-241
. . . . . . g.5066
acccggaagcgcgcccgggctcctgcaggcggggcgctgtgcgcgccgcgatccggtacg c.-181
. . . . . . g.5126
tgggcctccgggctgtcccctctgggggcggcgatcctccctccggagccccccttcaac c.-121
. . | 02 . . . . g.6588
cctcccggaagtgag | gaccagggatgctgtgctgctctcccatgagccagtcaccgagtc c.-61
. . . . . . g.6648
ggtctgctgcagccctttctgaacctctggccgtctggatgctccactgtgcttgccaag c.-1
| 03 . . . . . . g.8767
| ATGAAGTGCGTCTTGGTGGCCACTGAGGGCGCAGAGGTCCTCTTCTACTGGACAGATCAG c.60
| M K C V L V A T E G A E V L F Y W T D Q p.20
. . . . . | 04. g.16178
GAGTTTGAAGAGAGTCTCCGGCTGAAGTTCGGGCAGTCAGAGAATGAGGAAGAAGAG | CTC c.120
E F E E S L R L K F G Q S E N E E E E | L p.40
. . . . . . g.16238
CCTGCCCTGGAGGACCAGCTCAGCACCCTCCTAGCCCCGGTCATCATCTCCTCCATGACG c.180
P A L E D Q L S T L L A P V I I S S M T p.60
. . . . . . g.16298
ATGCTGGAGAAGCTCTCGGACACCTACACCTGCTTCTCCACGGAAAATGGCAACTTCCTG c.240
M L E K L S D T Y T C F S T E N G N F L p.80
. | 05 . . . . . g.16578
TATGTCCTTCACCTG | TTTGGAGAATGCCTGTTCATTGCCATCAATGGTGACCACACCGAG c.300
Y V L H L | F G E C L F I A I N G D H T E p.100
. . . . . . g.16638
AGCGAGGGGGACCTGCGGCGGAAGCTGTATGTGCTCAAGTACCTGTTTGAAGTGCACTTT c.360
S E G D L R R K L Y V L K Y L F E V H F p.120
. . . | 06 . . g.17878
GGGCTGGTGACTGTGGACGGTCATCTTATCCGAAAGGA | GCTGCGGCCCCCAGACCTGGCG c.420
G L V T V D G H L I R K E | L R P P D L A p.140
. . . . . . g.17938
CAGCGTGTCCAGCTGTGGGAGCACTTCCAGAGCCTGCTGTGGACCTACAGCCGCCTGCGG c.480
Q R V Q L W E H F Q S L L W T Y S R L R p.160
. . | 07. . . . g.20689
GAGCAGGAGCAGTGCTTCGCCGTGGAG | GCCCTGGAGCGACTGATTCACCCCCAGCTCTGT c.540
E Q E Q C F A V E | A L E R L I H P Q L C p.180
. . . . . . g.20749
GAGCTGTGCATAGAGGCGCTGGAGCGGCACGTCATCCAGGCTGTCAACACCAGCCCCGAG c.600
E L C I E A L E R H V I Q A V N T S P E p.200
. . . . . . g.20809
CGGGGAGGCGAGGAGGCCCTGCATGCCTTCCTGCTCGTGCACTCCAAGCTGCTGGCATTC c.660
R G G E E A L H A F L L V H S K L L A F p.220
| 08 . . . . . g.21329
TACTCTAG | CCACAGTGCCAGCTCCCTGCGCCCGGCCGACCTGCTTGCCCTCATCCTCCTG c.720
Y S S | H S A S S L R P A D L L A L I L L p.240
. . . . | 09 . g.22070
GTTCAGGACCTCTACCCCAGCGAGAGCACAGCAGAGGACGACATTCAG | CCTTCCCCGCGG c.780
V Q D L Y P S E S T A E D D I Q | P S P R p.260
. . . . . . g.22130
AGGGCCCGGAGCAGCCAGAACATCCCCGTGCAGCAGGCCTGGAGCCCTCACTCCACGGGC c.840
R A R S S Q N I P V Q Q A W S P H S T G p.280
. . | 10. . . . g.22338
CCAACTGGGGGGAGCTCTGCAGAGACG | GAGACAGACAGCTTCTCCCTCCCTGAGGAGTAC c.900
P T G G S S A E T | E T D S F S L P E E Y p.300
. . . | 11. . . g.24706
TTCACACCAGCTCCTTCCCCTGGCGATCAGAGCTCAG | GTAGCACCATCTGGCTGGAGGGG c.960
F T P A P S P G D Q S S G | S T I W L E G p.320
. . | 12. . . . g.25995
GGCACCCCCCCCATGGATGCCCTTCAG | ATAGCAGAGGACACCCTCCAAACACTGGTTCCC c.1020
G T P P M D A L Q | I A E D T L Q T L V P p.340
. . . . . . g.26055
CACTGCCCTGTGCCTTCCGGCCCCAGAAGGATCTTCCTGGATGCCAACGTGAAGGAAAGC c.1080
H C P V P S G P R R I F L D A N V K E S p.360
. . . . . . g.26115
TACTGCCCCCTAGTGCCCCACACCATGTACTGCCTGCCCCTGTGGCAGGGCATCAACCTG c.1140
Y C P L V P H T M Y C L P L W Q G I N L p.380
. | 13 . . . . . g.26272
GTGCTCCTGACCAGG | AGCCCCAGCGCGCCCCTGGCCCTGGTTCTGTCCCAGCTGATGGAT c.1200
V L L T R | S P S A P L A L V L S Q L M D p.400
. . . . . . g.26332
GGCTTCTCCATGCTGGAGAAGAAGCTGAAGGAAGGGCCGGAGCCCGGGGCCTCCCTGCGC c.1260
G F S M L E K K L K E G P E P G A S L R p.420
. . . . . . g.26392
TCCCAGCCCCTCGTGGGAGACCTGCGCCAGAGGATGGACAAGTTTGTCAAGAATCGAGGG c.1320
S Q P L V G D L R Q R M D K F V K N R G p.440
. | 14 . . . . . g.27618
GCACAGGAGATTCAG | AGCACCTGGCTGGAGTTTAAGGCCAAGGCTTTCTCCAAAAGTGAG c.1380
A Q E I Q | S T W L E F K A K A F S K S E p.460
. | 15. . . . . g.28103
CCCGGATCCTCCTGGGA | GCTGCTCCAGGCATGTGGGAAGCTGAAGCGGCAGCTCTGCGCC c.1440
P G S S W E | L L Q A C G K L K R Q L C A p.480
. . . . . . g.28163
ATCTACCGGCTGAACTTTCTGACCACAGCCCCCAGCAGGGGAGGCCCACACCTGCCCCAG c.1500
I Y R L N F L T T A P S R G G P H L P Q p.500
. . . | 16 . . . g.28307
CACCTGCAGGACCAAGTGCAGAGGCTCATGCG | GGAGAAGCTGACGGACTGGAAGGACTTC c.1560
H L Q D Q V Q R L M R | E K L T D W K D F p.520
. . . | 17 . . g.29456
TTGCTGGTGAAGAGCAGGAGGAACATCACCATGGTGTC | CTACCTAGAAGACTTCCCAGGC c.1620
L L V K S R R N I T M V S | Y L E D F P G p.540
. . . . . . g.29516
TTGGTGCACTTCATCTATGTGGACCGCACCACTGGGCAGATGGTGGCGCCTTCCCTCAAC c.1680
L V H F I Y V D R T T G Q M V A P S L N p.560
. . . . . . g.29576
TGCAGTCAAAAGACCTCGTCGGAGTTGGGCAAGGGGCCGCTGGCTGCCTTTGTCAAAACT c.1740
C S Q K T S S E L G K G P L A A F V K T p.580
| 18 . . . . . . g.31846
AAG | GTCTGGTCTCTGATCCAGCTGGCGCGCAGATACCTGCAGAAGGGCTACACCACGCTG c.1800
K | V W S L I Q L A R R Y L Q K G Y T T L p.600
. . . . . | 19. g.33693
CTGTTCCAGGAGGGGGATTTCTACTGCTCCTACTTCCTGTGGTTCGAGAATGACATG | GGG c.1860
L F Q E G D F Y C S Y F L W F E N D M | G p.620
. . . . . . g.33753
TACAAACTCCAGATGATCGAGGTGCCCGTCCTCTCCGACGACTCAGTGCCTATCGGCATG c.1920
Y K L Q M I E V P V L S D D S V P I G M p.640
. . | 20 . . . . g.34261
CTGGGAGGAGACTACTACAG | GAAGCTCCTGCGCTACTACAGCAAGAACCGCCCAACCGAG c.1980
L G G D Y Y R | K L L R Y Y S K N R P T E p.660
. . . . . . g.34321
GCTGTCAGGTGCTACGAGCTGCTGGCCCTGCACCTGTCTGTCATCCCCACTGACCTGCTG c.2040
A V R C Y E L L A L H L S V I P T D L L p.680
. . . . . . g.34381
GTGCAGCAGGCCGGCCAGCTGGCCCGGCGCCTCTGGGAGGCCTCCCGTATCCCCCTGCTC c.2100
V Q Q A G Q L A R R L W E A S R I P L L p.700
g.34384
TAG c.2103
X p.700
. . . . . . g.34444
gccaaggtggccgcagtctgcctttgcatcctgtcctccagccacccttgcttgccactg c.*60
. . . . . . g.34504
ttccccatgacgagagcctcctgtctgcagtggccatcctgaggatagggcagagtgccc c.*120
. . . . . . g.34564
agggtggccccagggcttctaaaaccccacctagaccaccctccatgtcaggtactgagc c.*180
. . . . . . g.34624
aaggccccagatccttctctctggaggaagagggaagcccaggggtcctgtttgtaaaac c.*240
. . . . . . g.34684
aacggtggcaacagctcctcttccagagctgcctctgcctttatcctgggagatggggag c.*300
. . . . . . g.34744
gaagccccatctctgctgttccctgcgtggaggaagcccacccagcaagctctctcctac c.*360
. . . . . . g.34804
cccaggtaaaaggtgctcctttgcctgggtttgaattccagcgctgccacttcctctctg c.*420
. . . . . . g.34864
cacctcctggcaagtttcttctattccccacgtttaaagcgatggcacctccgtcccagg c.*480
. . . . . . g.34924
gtggtgtgaggattacccagtgtggtaggtgctcaataaatgttggtcattgttatcact c.*540
. . . . . . g.34984
gaagcccaacatgctagtgcttctagacccttctgtcagtgctgataagcccttgctaag c.*600
. . . . . . g.35044
tcccagccccttcatgcttggctggcgtctgccctagggctggggttctcaagcccctgg c.*660
. . . . . . g.35104
ccctggcccagagatttggattcccttggcggccgtggagcccagcctttgatgtctttc c.*720
. . . . . . g.35164
aaagcttctgtggtgcgccctggattgagaaccaccacccgaggggtacagcccctctct c.*780
. . . . . . g.35224
tccaaccgagaagttcctgtcccagaatggacccagggacaagagaccctgagagccctg c.*840
. . . . . . g.35284
ggactgggagtgtctgctcctctgaggccaggaggccggtgctgggccagagaggacggc c.*900
. . . . . . g.35344
gtggcgaaagtcagcgtccactgcagcacaggatcagatggccgtgtgctgtgcatgcag c.*960
. . . . . . g.35404
gagcctcgccttctgtgtctttagtcttgagccaaaatttgctcaaagactgatctcttc c.*1020
. . . . . . g.35464
cttgcagggaacagctttggggctgggggaactagaacccacatgttggtctaaaccctg c.*1080
. . . . . . g.35524
agaaggtggcagtgaggaagtatcccctcaggtgactggatctgtgttcctccttaacat c.*1140
. . . . . . g.35584
catctgatggaatggcaatgaaaagcgtggattgtggaaaatacagaaaaacataaagga c.*1200
. . . . . . g.35644
aaaaactccaatcccctgagcccaccactgttcaggacccctgcttttgtcacctactat c.*1260
. . . . . . g.35704
ttccctttagtttttagcagcggctggatgtgatatgtctagtttaaccagtccccttga c.*1320
. . . . g.35750
tctttctatataataaataacacaggagtgaacatcctgaatcaga c.*1366
(downstream sequence)
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