(used for variant description)
(last modified December 10, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_005746.2 in the NAMPT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering NAMPT transcript NM_005746.2.
(upstream sequence)
g.5008
gctgccgc c.-301
. . . . . . g.5068
gccccgccctttctcggcccccggagggtgacggggtgaaggcgggggaaccgaggtggg c.-241
. . . . . . g.5128
gagtccgccagagctcccagactgcgagcacgcgagccgccgcagccgtcacccgcgccg c.-181
. . . . . . g.5188
cgtcacggctcccgggcccgccctcctctgacccctcccctctctccgtttccccctctc c.-121
. . . . . . g.5248
cccctcctccgccgaccgagcagtgacttaagcaacggagcgcggtgaagctcatttttc c.-61
. . . . . . g.5308
tccttcctcgcagccgcgccagggagctcgcggcgcgcggcccctgtcctccggcccgag c.-1
. . . . . | 02. g.13016
ATGAATCCTGCGGCAGAAGCCGAGTTCAACATCCTCCTGGCCACCGACTCCTACAAG | GTT c.60
M N P A A E A E F N I L L A T D S Y K | V p.20
. . . . . . g.13076
ACTCACTATAAACAATATCCACCCAACACAAGCAAAGTTTATTCCTACTTTGAATGCCGT c.120
T H Y K Q Y P P N T S K V Y S Y F E C R p.40
. . . . . . g.13136
GAAAAGAAGACAGAAAACTCCAAATTAAGGAAGGTGAAATATGAGGAAACAGTATTTTAT c.180
E K K T E N S K L R K V K Y E E T V F Y p.60
. . . | 03 . . . g.15169
GGGTTGCAGTACATTCTTAATAAGTACTTAAAAG | GTAAAGTAGTAACCAAAGAGAAAATC c.240
G L Q Y I L N K Y L K G | K V V T K E K I p.80
. . . . . . g.15229
CAGGAAGCCAAAGATGTCTACAAAGAACATTTCCAAGATGATGTCTTTAATGAAAAGGGA c.300
Q E A K D V Y K E H F Q D D V F N E K G p.100
. | 04 . . . . g.17576
TGGAACTACATTCTTGAG | AAGTATGATGGGCATCTTCCAATAGAAATAAAAGCTGTTCCT c.360
W N Y I L E | K Y D G H L P I E I K A V P p.120
. . . . . . g.17636
GAGGGCTTTGTCATTCCCAGAGGAAATGTTCTCTTCACGGTGGAAAACACAGATCCAGAG c.420
E G F V I P R G N V L F T V E N T D P E p.140
. . | 05. . . . g.20913
TGTTACTGGCTTACAAATTGGATTGAG | ACTATTCTTGTTCAGTCCTGGTATCCAATCACA c.480
C Y W L T N W I E | T I L V Q S W Y P I T p.160
. . . . . . g.20973
GTGGCCACAAATTCTAGAGAGCAGAAGAAAATATTGGCCAAATATTTGTTAGAAACTTCT c.540
V A T N S R E Q K K I L A K Y L L E T S p.180
. . . . . . g.21033
GGTAACTTAGATGGTCTGGAATACAAGTTACATGATTTTGGCTACAGAGGAGTCTCTTCC c.600
G N L D G L E Y K L H D F G Y R G V S S p.200
| 06 . . . . . . g.21646
CAAGAG | ACTGCTGGCATAGGAGCATCTGCTCACTTGGTTAACTTCAAAGGAACAGATACA c.660
Q E | T A G I G A S A H L V N F K G T D T p.220
. . . . . . g.21706
GTAGCAGGACTTGCTCTAATTAAAAAATATTATGGAACGAAAGATCCTGTTCCAGGCTAT c.720
V A G L A L I K K Y Y G T K D P V P G Y p.240
. . | 07 . . . . g.26612
TCTGTTCCAGCAGCAGAACACAG | TACCATAACAGCTTGGGGGAAAGACCATGAAAAAGAT c.780
S V P A A E H S | T I T A W G K D H E K D p.260
. . . . . . g.26672
GCTTTTGAACATATTGTAACACAGTTTTCATCAGTGCCTGTATCTGTGGTCAGCGATAGC c.840
A F E H I V T Q F S S V P V S V V S D S p.280
. . . . . . g.26732
TATGACATTTATAATGCGTGTGAGAAAATATGGGGTGAAGATCTAAGACATTTAATAGTA c.900
Y D I Y N A C E K I W G E D L R H L I V p.300
. . . . . . g.26792
TCAAGAAGTACACAGGCACCACTAATAATCAGACCTGATTCTGGAAACCCTCTTGACACT c.960
S R S T Q A P L I I R P D S G N P L D T p.320
| 08 . . . . . g.28536
GTGTTAAAG | GTTTTGGAGATTTTAGGTAAGAAGTTTCCTGTTACTGAGAACTCAAAGGGT c.1020
V L K | V L E I L G K K F P V T E N S K G p.340
. . . . . . g.28596
TACAAGTTGCTGCCACCTTATCTTAGAGTTATTCAAGGGGATGGAGTAGATATTAATACC c.1080
Y K L L P P Y L R V I Q G D G V D I N T p.360
| 09 . . . . . g.35739
TTACAAGAG | ATTGTAGAAGGCATGAAACAAAAAATGTGGAGTATTGAAAATATTGCCTTC c.1140
L Q E | I V E G M K Q K M W S I E N I A F p.380
. . . . . . g.35799
GGTTCTGGTGGAGGTTTGCTACAGAAGTTGACAAGAGATCTCTTGAATTGTTCCTTCAAG c.1200
G S G G G L L Q K L T R D L L N C S F K p.400
. . . | 10 . . . g.37071
TGTAGCTATGTTGTAACTAATGGCCTTGGG | ATTAACGTCTTCAAGGACCCAGTTGCTGAT c.1260
C S Y V V T N G L G | I N V F K D P V A D p.420
. . . . . . g.37131
CCCAACAAAAGGTCCAAAAAGGGCCGATTATCTTTACATAGGACGCCAGCAGGGAATTTT c.1320
P N K R S K K G R L S L H R T P A G N F p.440
. . . . | 11 . . g.39014
GTTACACTGGAGGAAGGAAAAGGAGACCTTGAGGAATATGGTCAG | GATCTTCTCCATACT c.1380
V T L E E G K G D L E E Y G Q | D L L H T p.460
. . . . . . g.39074
GTCTTCAAGAATGGCAAGGTGACAAAAAGCTATTCATTTGATGAAATAAGAAAAAATGCA c.1440
V F K N G K V T K S Y S F D E I R K N A p.480
. . . g.39110
CAGCTGAATATTGAACTGGAAGCAGCACATCATTAG c.1476
Q L N I E L E A A H H X p.491
. . . . . . g.39170
gctttatgactgggtgtgtgttgtgtgtatgtaatacataatgtttattgtacagatgtg c.*60
. . . . . . g.39230
tggggtttgtgttttatgatacattacagccaaattatttgttggtttatggacatactg c.*120
. . . . . . g.39290
ccctttcattttttttcttttccagtgtttaggtgatctcaaattaggaaatgcatttaa c.*180
. . . . . . g.39350
ccatgtaaaagatgagtgctaaagtaagctttttagggccctttgccaataggtagtcat c.*240
. . . . . . g.39410
tcaatctggtattgatcttttcacaaataacagaactgagaaacttttatatataactga c.*300
. . . . . . g.39470
tgatcacataaaacagatttgcataaaattaccatgattgctttatgtttatatttaact c.*360
. . . . . . g.39530
tgtatttttgtacaaacaagattgtgtaagatatatttgaagtttcagtgatttaacagt c.*420
. . . . . . g.39590
ctttccaacttttcatgatttttatgagcacagactttcaagaaaatacttgaaaataaa c.*480
. . . . . . g.39650
ttacattgccttttgtccattaatcagcaaataaaacatggccttaacaaagttgtttgt c.*540
. . . . . . g.39710
gttattgtacaatttgaaaattatgtcgggacataccctatagaattactaaccttactg c.*600
. . . . . . g.39770
ccccttgtagaatatgtattaatcattctacattaaagaaaataatggttcttactggaa c.*660
. . . . . . g.39830
tgtctaggcactgtacagttattatatatcttggttgttgtattgtaccagtgaaatgcc c.*720
. . . . . . g.39890
aaatttgaaaggcctgtactgcaattttatatgtcagagattgcctgtggctctaatatg c.*780
. . . . . . g.39950
cacctcaagattttaaggagataatgtttttagagagaatttctgcttccactatagaat c.*840
. . . . . . g.40010
atatacataaatgtaaaatacttacaaaagtggaagtagtgtattttaaagtaattacac c.*900
. . . . . . g.40070
ttctgaatttatttttcatattctatagttggtatgacttaaatgaattactggagtggg c.*960
. . . . . . g.40130
tagtgagtgtacttaaatgtttcaattctgttatattttttattaagtttttaaaaaatt c.*1020
. . . . . . g.40190
aaattggatattaaattgtatggacatcatttattaattttaaactgaatgccctcaata c.*1080
. . . . . . g.40250
agtaatactgaagcacattcttaaatgaagataaattatctccaatgaaaagcatgacat c.*1140
. . . . . . g.40310
gtgtttcaatagaagaatcttaagttggctaaattcaaagtgcttgacatcaaaatgttc c.*1200
. . . . . . g.40370
tagagtgattagctactagattctgaatcatacatcacatctgactagagaccagtttct c.*1260
. . . . . . g.40430
ttcgaatgattcttttatgtatgtagatctgttcttctgaggcagcggttggccaactat c.*1320
. . . . . . g.40490
agcccaaaggccaaatttggacttctttttataaatgcagattgtctatggctgctttcc c.*1380
. . . . . . g.40550
cactactccagcctaaggtaaacagctgcaatagaagccaaatgagaatcgcaaagccca c.*1440
. . . . . . g.40610
aaatgtttattaacctgccctttacacaaaattacacaaaaagtttcctgatctctgttc c.*1500
. . . . . . g.40670
taagaaaaggagtgtgccttgcatttaaaaggaaatgttggtttctagggaagggaggag c.*1560
. . . . . . g.40730
gctaaataattgatacggaattttcctcttttgtcttcttttttctcacttaagaatccg c.*1620
. . . . . . g.40790
atactggaagactgatttagaaaagtttttaacatgacattaaatgtgaaattttaaaaa c.*1680
. . . . . . g.40850
ttgaaaagccataaatcatctgttttaaatagttacatgagaaaatgatcactagaataa c.*1740
. . . . . . g.40910
cctaattagaagtgttatcttcattaaatgttttttgtaagtggtattagaaagaatatg c.*1800
. . . . . . g.40970
tttttcagatggttctttaaacatgtagtgagaacaataagcattattcacttttagtaa c.*1860
. . . . . . g.41030
gtcttctgtaatccatgatataaaataattttaaaatgattttttaatgtatttgagtaa c.*1920
. . . . . . g.41090
agatgagtagtattaagaaaaacacacatttcttcacaaaatgtgctaaggggcgtgtaa c.*1980
. . . . . . g.41150
agaatcaaaagaaactattaccaataatagttttgataatcacccataattttgtgttta c.*2040
. . . . . . g.41210
aacattgaaattatagtacagacagtattctctgtgttctgtgaatttcagcagcttcag c.*2100
. . . . . . g.41270
aatagagtttaatttagaaatttgcagtgaaaaaagctatctctttgttcacaaccataa c.*2160
. . . . . . g.41330
atcaggagatggagattaattctattggctcttagtcacttggaactgattaattctgac c.*2220
. . . . . . g.41390
tttctgtcactaagcacttggtatttggccatctccattctgagcaccaaacggttaaca c.*2280
. . . . . . g.41450
cgaatgtccactagaactctgctgtgtgtcacccttaaatcagtctaaatcttccagaca c.*2340
. . . . . . g.41510
aaagcaaatggcatttatggatttaagtcattagattttcaactgacattaattaatccc c.*2400
. . . . . . g.41570
tcttgattgattatatcatcaagtatttatatcttaaataggaggtaggatttctgtgtt c.*2460
. . . . . . g.41630
aagactcttatttgtaccctataattaaagtaaaatgttttttatgagtatcccttgttt c.*2520
. . . . . . g.41690
tcccttcttaaattgttatcaaacaatttttataatgaaatctatcttggaaaattagaa c.*2580
. . . . . . g.41750
agaaaaatggcaaggtatttattgttctgtttgccataatttagaactcacacttaagta c.*2640
. . . . . . g.41810
ttttgtagttttacattcctttttaacccattcagtggagaatgtcagcttttctcccaa c.*2700
. . . . . . g.41870
gttgtatgttaagtctattctaatatgtactcaacatcaagttataaacatgtaataaac c.*2760
. . . g.41908
atggaaataaagtttagctctattagtgaagtgttaaa c.*2798
(downstream sequence)
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