(used for variant description)
(last modified August 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001020658.1 in the PUM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering PUM1 transcript NM_001020658.1.
(upstream sequence)
. . . . . g.5053
agtgggccgccatgttgtcggagtgaaaggtaagggggagcgagagcgccaga c.-61
. . . . . | 02 g.11151
gagagaagatcggggggctgaaatccatcttcatcctaccgctccgccc | gtgttggtgga c.-1
. . . . . . g.11211
ATGAGCGTTGCATGTGTCTTGAAGAGAAAAGCAGTGCTTTGGCAGGACTCTTTCAGCCCC c.60
M S V A C V L K R K A V L W Q D S F S P p.20
. . . . . . g.11271
CACCTGAAACATCACCCTCAAGAACCAGCTAATCCCAACATGCCTGTTGTTTTGACATCT c.120
H L K H H P Q E P A N P N M P V V L T S p.40
. . . . . . g.11331
GGAACAGGGTCGCAAGCGCAGCCACAACCAGCTGCAAATCAGGCTCTTGCAGCTGGGACT c.180
G T G S Q A Q P Q P A A N Q A L A A G T p.60
. . . . . . g.11391
CACTCCAGCCCTGTCCCAGGATCTATAGGAGTTGCAGGCCGTTCCCAGGACGACGCTATG c.240
H S S P V P G S I G V A G R S Q D D A M p.80
. . . . . . g.11451
GTGGACTACTTCTTTCAGAGGCAGCATGGTGAGCAGCTTGGGGGAGGAGGAAGTGGAGGA c.300
V D Y F F Q R Q H G E Q L G G G G S G G p.100
. . . . . . g.11511
GGCGGCTATAATAATAGCAAACATCGATGGCCTACTGGGGATAACATTCATGCAGAACAT c.360
G G Y N N S K H R W P T G D N I H A E H p.120
| 03 . . . . . . g.41910
CAG | GTGCGTTCCATGGATGAACTGAATCATGATTTTCAAGCACTTGCTCTGGAGGGAAGA c.420
Q | V R S M D E L N H D F Q A L A L E G R p.140
. | 04 . . . . . g.63663
GCGATGGGAGAG | CAGCTCTTGCCAGGTAAAAAGTTTTGGGAAACAGATGAATCCAGCAAA c.480
A M G E | Q L L P G K K F W E T D E S S K p.160
. . . . . . g.63723
GATGGACCAAAAGGAATATTCCTGGGTGATCAATGGCGAGACAGTGCCTGGGGAACATCA c.540
D G P K G I F L G D Q W R D S A W G T S p.180
| 05 . . . . . . g.64745
G | ATCATTCAGTTTCCCAGCCAATCATGGTGCAGAGAAGACCTGGTCAGAGTTTCCATGTG c.600
D | H S V S Q P I M V Q R R P G Q S F H V p.200
. . . . . . g.64805
AACAGTGAGGTCAATTCTGTACTGTCCCCACGATCGGAGAGTGGGGGACTAGGCGTTAGC c.660
N S E V N S V L S P R S E S G G L G V S p.220
. . . . . . g.64865
ATGGTGGAGTATGTGTTGAGCTCATCCCCGGGCGATTCCTGTCTAAGAAAAGGAGGATTT c.720
M V E Y V L S S S P G D S C L R K G G F p.240
| 06 . . . . . . g.75557
| GGCCCAAGGGATGCAGACAGTGATGAAAACGACAAAGGTGAAAAGAAGAACAAGGGTACG c.780
| G P R D A D S D E N D K G E K K N K G T p.260
. . . . . . g.75617
TTTGATGGAGATAAGCTAGGAGATTTGAAGGAGGAGGGTGATGTGATGGACAAGACCAAT c.840
F D G D K L G D L K E E G D V M D K T N p.280
. . . . | 07. . g.78070
GGTTTACCAGTGCAGAATGGGATTGATGCAGACGTCAAAGATTTTAG | CCGTACCCCTGGT c.900
G L P V Q N G I D A D V K D F S | R T P G p.300
. . . . . . g.78130
AATTGCCAGAACTCTGCTAATGAAGTGGATCTTCTGGGTCCAAACCAGAATGGTTCTGAG c.960
N C Q N S A N E V D L L G P N Q N G S E p.320
. . . . . . g.78190
GGCTTAGCCCAGCTGACCAGCACCAATGGTGCCAAGCCTGTGGAGGATTTCTCCAACATG c.1020
G L A Q L T S T N G A K P V E D F S N M p.340
. . . . . . g.78250
GAGTCCCAGAGTGTCCCCTTGGACCCCATGGAACATGTGGGCATGGAGCCTCTTCAGTTT c.1080
E S Q S V P L D P M E H V G M E P L Q F p.360
. . . . . . g.78310
GATTATTCAGGCACGCAGGTACCTGTGGACTCAGCAGCAGCAACTGTGGGACTTTTTGAC c.1140
D Y S G T Q V P V D S A A A T V G L F D p.380
. | 08 . . . . g.89354
TACAATTCTCAACAACAG | CTGTTCCAAAGACCTAATGCGCTTGCTGTCCAGCAGTTGACA c.1200
Y N S Q Q Q | L F Q R P N A L A V Q Q L T p.400
. . . . . | 09 . g.90562
GCTGCTCAGCAGCAGCAGTATGCACTGGCAGCTGCTCATCAGCCGCACATCG | GTTTAGCT c.1260
A A Q Q Q Q Y A L A A A H Q P H I G | L A p.420
. . . . . . g.90622
CCCGCTGCGTTTGTCCCCAATCCATACATCATCAGCGCTGCTCCCCCAGGGACGGACCCC c.1320
P A A F V P N P Y I I S A A P P G T D P p.440
. . . | 10 . . . g.95941
TACACAGCTGGATTGGCTGCAGCAGCGACACTAG | GCCCAGCTGTGGTCCCTCACCAGTAT c.1380
Y T A G L A A A A T L G | P A V V P H Q Y p.460
. . . . . . g.96001
TATGGAGTTACTCCCTGGGGAGTCTACCCTGCCAGTCTTTTCCAGCAGCAAGCTGCCGCT c.1440
Y G V T P W G V Y P A S L F Q Q Q A A A p.480
. . . . . . g.96061
GCCGCTGCAGCAACTAATTCAGCTAATCAACAGACCACCCCACAGGCTCAGCAAGGACAG c.1500
A A A A T N S A N Q Q T T P Q A Q Q G Q p.500
| 11 . . . . . . g.102279
CAGCAG | GTTCTCCGTGGAGGAGCCAGCCAACGTCCTTTGACCCCAAACCAGAACCAGCAG c.1560
Q Q | V L R G G A S Q R P L T P N Q N Q Q p.520
. . . . . . g.102339
GGACAGCAAACGGATCCCCTTGTGGCAGCTGCAGCAGTGAATTCTGCCCTTGCATTTGGA c.1620
G Q Q T D P L V A A A A V N S A L A F G p.540
. . | 12 . . . . g.103442
CAAGGTCTGGCAGCAGGCATGCCAG | GTTATCCGGTGTTGGCTCCTGCTGCTTACTATGAC c.1680
Q G L A A G M P G | Y P V L A P A A Y Y D p.560
. . . . . . g.103502
CAAACTGGTGCCCTTGTAGTGAATGCAGGCGCGAGAAATGGTCTTGGAGCTCCTGTTCGA c.1740
Q T G A L V V N A G A R N G L G A P V R p.580
. . . . | 13 . g.104450
CTTGTAGCTCCTGCCCCAGTCATCATTAGTTCCTCAGCTGCACAAGCAG | CTGTTGCAGCA c.1800
L V A P A P V I I S S S A A Q A A | V A A p.600
. . . . . . g.104510
GCCGCAGCTTCAGCAAATGGAGCAGCTGGTGGTCTTGCTGGAACAACAAATGGACCATTT c.1860
A A A S A N G A A G G L A G T T N G P F p.620
. . . . . . g.104570
CGCCCTTTAGGAACACAGCAGCCTCAGCCCCAGCCCCAGCAGCAGCCCAATAACAACCTG c.1920
R P L G T Q Q P Q P Q P Q Q Q P N N N L p.640
. . . . . . g.104630
GCATCCAGTTCTTTCTACGGCAACAACTCTCTGAACAGCAATTCACAGAGCAGCTCCCTC c.1980
A S S S F Y G N N S L N S N S Q S S S L p.660
. . . . . . g.104690
TTCTCCCAGGGCTCTGCCCAGCCTGCCAACACATCCTTGGGATTCGGAAGTAGCAGTTCT c.2040
F S Q G S A Q P A N T S L G F G S S S S p.680
. . . . | 14 . . g.105821
CTCGGCGCCACCCTGGGATCCGCCCTTGGAGGGTTTGGAACAGCAG | TTGCAAACTCCAAC c.2100
L G A T L G S A L G G F G T A V | A N S N p.700
. . . . . . g.105881
ACTGGCAGTGGCTCCCGCCGTGACTCCCTGACTGGCAGCAGTGACCTTTATAAGAGGACA c.2160
T G S G S R R D S L T G S S D L Y K R T p.720
. . . . . . g.105941
TCGAGCAGCTTGACCCCCATTGGACACAGTTTTTATAACGGCCTTAGCTTTTCCTCCTCT c.2220
S S S L T P I G H S F Y N G L S F S S S p.740
. . . . . . g.106001
CCTGGACCCGTGGGCATGCCTCTCCCTAGTCAGGGACCAGGACATTCACAGACACCACCT c.2280
P G P V G M P L P S Q G P G H S Q T P P p.760
. . . . | 15 . . g.116753
CCTTCCCTCTCTTCACATGGATCCTCTTCAAGCTTAAACCTGG | GAGGACTCACGAATGGC c.2340
P S L S S H G S S S S L N L G | G L T N G p.780
. . . . . . g.116813
AGTGGAAGATACATCTCTGCTGCTCCAGGCGCTGAAGCCAAGTACCGCAGTGCAAGCAGC c.2400
S G R Y I S A A P G A E A K Y R S A S S p.800
. . . . . . g.116873
GCCTCCAGCCTCTTCAGCCCGAGCAGCACTCTTTTCTCTTCCTCTCGTTTGCGATATGGA c.2460
A S S L F S P S S T L F S S S R L R Y G p.820
. . . . . . g.116933
ATGTCTGATGTCATGCCTTCTGGCAGGAGCAGGCTTTTGGAAGATTTTCGAAACAACCGG c.2520
M S D V M P S G R S R L L E D F R N N R p.840
. . . . . . g.116993
TACCCCAATTTACAACTGCGGGAGATTGCTGGACATATAATGGAATTTTCCCAAGACCAG c.2580
Y P N L Q L R E I A G H I M E F S Q D Q p.860
. | 16 . . . . . g.118403
CATGGGTCCAG | ATTCATTCAGCTGAAACTGGAGCGTGCCACACCAGCTGAGCGCCAGCTT c.2640
H G S R | F I Q L K L E R A T P A E R Q L p.880
. . . . . . g.118463
GTCTTCAATGAAATCCTCCAGGCTGCCTACCAACTCATGGTGGATGTGTTTGGTAATTAC c.2700
V F N E I L Q A A Y Q L M V D V F G N Y p.900
. . | 17 . . . . g.120495
GTCATTCAGAAGTTCTTTGAA | TTTGGCAGTCTTGAACAGAAGCTGGCTTTGGCAGAACGG c.2760
V I Q K F F E | F G S L E Q K L A L A E R p.920
. . . . . . g.120555
ATTCGAGGCCACGTCCTGTCATTGGCACTACAGATGTATGGCTGCCGTGTTATCCAGAAA c.2820
I R G H V L S L A L Q M Y G C R V I Q K p.940
. . . | 18 . . . g.125258
GCTCTTGAGTTTATTCCTTCAGACCAGCAGGTAATT | AATGAGATGGTTCGGGAACTAGAT c.2880
A L E F I P S D Q Q V I | N E M V R E L D p.960
. . . . . . g.125318
GGCCATGTCTTGAAGTGTGTGAAAGATCAGAATGGCAATCACGTGGTTCAGAAATGCATT c.2940
G H V L K C V K D Q N G N H V V Q K C I p.980
. . . . . | 19 . g.128600
GAATGTGTACAGCCCCAGTCTTTGCAATTTATCATCGATGCGTTTAAGGGACAG | GTATTT c.3000
E C V Q P Q S L Q F I I D A F K G Q | V F p.1000
. . . . . . g.128660
GCCTTATCCACACATCCTTATGGCTGCCGAGTGATTCAGAGAATCCTGGAGCACTGTCTC c.3060
A L S T H P Y G C R V I Q R I L E H C L p.1020
. . . . . . g.128720
CCTGACCAGACACTCCCTATTTTAGAGGAGCTTCACCAGCACACAGAGCAGCTTGTACAG c.3120
P D Q T L P I L E E L H Q H T E Q L V Q p.1040
| 20 . . . . . . g.129505
| GATCAATATGGAAATTATGTAATCCAACATGTACTGGAGCACGGTCGTCCTGAGGATAAA c.3180
| D Q Y G N Y V I Q H V L E H G R P E D K p.1060
. . . . . . g.129565
AGCAAAATTGTAGCAGAAATCCGAGGCAATGTACTTGTATTGAGTCAGCACAAATTTGCA c.3240
S K I V A E I R G N V L V L S Q H K F A p.1080
| 21 . . . . . . g.133940
AG | CAATGTTGTGGAGAAGTGTGTTACTCACGCCTCACGTACGGAGCGCGCTGTGCTCATC c.3300
S | N V V E K C V T H A S R T E R A V L I p.1100
. . . . . . g.134000
GATGAGGTGTGCACCATGAACGACGGTCCCCACAGTGCCTTATACACCATGATGAAGGAC c.3360
D E V C T M N D G P H S A L Y T M M K D p.1120
. . . . . . g.134060
CAGTATGCCAACTACGTGGTCCAGAAGATGATTGACGTGGCGGAGCCAGGCCAGCGGAAG c.3420
Q Y A N Y V V Q K M I D V A E P G Q R K p.1140
. | 22 . . . . . g.137420
ATCGTCATGCATAAG | ATCCGGCCCCACATCGCAACTCTTCGTAAGTACACCTATGGCAAG c.3480
I V M H K | I R P H I A T L R K Y T Y G K p.1160
. . . . . . g.137480
CACATTCTGGCCAAGCTGGAGAAGTACTACATGAAGAACGGTGTTGACTTAGGGCCCATC c.3540
H I L A K L E K Y Y M K N G V D L G P I p.1180
. . g.137507
TGTGGCCCCCCTAATGGTATCATCTGA c.3567
C G P P N G I I X p.1188
. . . . . . g.137567
ggcagtgtcacccgctgttccctcattcccgctgacctcactggcccactggcaaatcca c.*60
. . . . . . g.137627
accagcaaccagaaatgttctagtgtagagtctgagacgggcaagtggttgctccaggat c.*120
. . . . . . g.137687
tactccctcctccaaaaaaggaatcaaatccacgagtggaaaagcctttgtaaatttaat c.*180
. . . . . . g.137747
tttattacacataacatgtactattttttttaattgactaattgccctgctgttttactg c.*240
. . . . . . g.137807
gtgtataggatacttgtacataggtaaccaatgtacatgggaggccacatattttgttca c.*300
. . . . . . g.137867
ctgttgtatctatatttcacatgtggaaactttcagggtggttggtttaacaaaaaaaaa c.*360
. . . . . . g.137927
aagctttaaaaaaaaaagaaaaaaaggaaaaggtttttagctcatttgcctggccggcaa c.*420
. . . . . . g.137987
gttttgcaaatagctcttccccacctcctcattttagtaaaaaacaaacaaaaacaaaaa c.*480
. . . . . . g.138047
aacctgagaagtttgaattgtagttaaatgaccccaaactggcatttaacactgtttata c.*540
. . . . . . g.138107
aaaaatatatatatatatatatatatatataatgaaaaaggtttcagagttgctaaagct c.*600
. . . . . . g.138167
tcagtttgtgacattaagtttatgaaattctaaaaaatgccttttttggagactatatta c.*660
. . . . . . g.138227
tgctgaagaaggctgttcgtgaggaggagatgcgagcacccagaacgtcttttgaggctg c.*720
. . . . . . g.138287
ggcgggtgtgattgtttactgcctactggatttttttctattaacattgaaaggtaaaat c.*780
. . . . . . g.138347
ctgattatttagcatgagaaaaaaaaatccaactctgcttttggtcttgcttctataaat c.*840
. . . . . . g.138407
atatagtgtatacttggtgtagactttgcatatatacaaatttgtagtattttcttgttt c.*900
. . . . . . g.138467
tgatgtctaatctgtatctataatgtaccctagtagtcgaacatacttttgattgtacaa c.*960
. . . . . . g.138527
ttgtacatttgtatacctgtaatgtaaatgtggagaagtttgaatcaacataaacacgtt c.*1020
. . . . . . g.138587
ttttggtaagaaaagagaattagccagccctgtgcattcagtgtatattctcacctttta c.*1080
. . . . . . g.138647
tggtcgtagcatatagtgttgtatattgtaaattgtaatttcaaccagaagtaaattttt c.*1140
. . . . . . g.138707
ttcttttgaaggaataaatgttctttatacagcctagttaatgtttaaaaagaaaaaaat c.*1200
. . . . . . g.138767
agcttggttttatttgtcatctagtctcaagtatagcgagattctttctaaatgttattc c.*1260
. . . . . . g.138827
aagattgagttctcactagtgtttttttaatcctaaaaaagtaatgttttgattttgtga c.*1320
. . . . . . g.138887
cagtcaaaaggacgtgcaaaagtctagccttgcccgagctttccttacaatcagagcccc c.*1380
. . . . . . g.138947
tctcaccttgtaaagtgtgaatcgcccttcccttttgtacagaagatgaactgtattttg c.*1440
. . . . . . g.139007
cattttgtctacttgtaagtgaatgtaacatactgtcaattttccttgtttgaatataga c.*1500
. . . . . . g.139067
attgtaacactacacggtgtacatttccagagccttgtgtatatttccaatgaacttttt c.*1560
. . . . . . g.139127
tgcaagcacacttgtaaccatatgtgtataattaacaaacctgtgtatgcttatgcctgg c.*1620
. . . . . . g.139187
gcaactattttttgtaactcttgtgtagattgtctctaaacaatgtgtgatctttatttt c.*1680
. . g.139212
gaaaaatacagaactttggaatctg c.*1705
(downstream sequence)
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