(used for variant description)
(last modified February 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_006017.2 in the PROM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011696.1, covering PROM1 transcript NM_006017.2.
(upstream sequence)
. . . g.12914
ggatggtgccttgagtgaatgacccccttgga c.-181
. . . . . . g.12974
gaacattcttccgcatccctcgcctcaagccagcctcagacagaaaactgaagattcagc c.-121
. . . . . . g.13034
agatccagtgcttcctgctcctcttctgcccaggaacacgcttgccttccccaaggcttc c.-61
. . . . . . g.13094
cagaagctctgaggcaggaggcaccaagttctacctcatgtttggaggatcttgctagct c.-1
. . . . . . g.13154
ATGGCCCTCGTACTCGGCTCCCTGTTGCTGCTGGGGCTGTGCGGGAACTCCTTTTCAGGA c.60
M A L V L G S L L L L G L C G N S F S G p.20
. . . . . . g.13214
GGGCAGCCTTCATCCACAGATGCTCCTAAGGCTTGGAATTATGAATTGCCTGCAACAAAT c.120
G Q P S S T D A P K A W N Y E L P A T N p.40
. . . . . . g.13274
TATGAGACCCAAGACTCCCATAAAGCTGGACCCATTGGCATTCTCTTTGAACTAGTGCAT c.180
Y E T Q D S H K A G P I G I L F E L V H p.60
. . . . | 02 . . g.50019
ATCTTTCTCTATGTGGTACAGCCGCGTGATTTCCCAGAAG | ATACTTTGAGAAAATTCTTA c.240
I F L Y V V Q P R D F P E D | T L R K F L p.80
. . . | 03 . . . g.53263
CAGAAGGCATATGAATCCAAAATTGATTATGACAAG | CCAGAAACTGTAATCTTAGGTCTA c.300
Q K A Y E S K I D Y D K | P E T V I L G L p.100
| 04 . . . . . . g.55548
AAG | ATTGTCTACTATGAAGCAGGGATTATTCTATGCTGTGTCCTGGGGCTGCTGTTTATT c.360
K | I V Y Y E A G I I L C C V L G L L F I p.120
. . . . . . g.55608
ATTCTGATGCCTCTGGTGGGGTATTTCTTTTGTATGTGTCGTTGCTGTAACAAATGTGGT c.420
I L M P L V G Y F F C M C R C C N K C G p.140
. . . . . . g.55668
GGAGAAATGCACCAGCGACAGAAGGAAAATGGGCCCTTCCTGAGGAAATGCTTTGCAATC c.480
G E M H Q R Q K E N G P F L R K C F A I p.160
. . | 05 . . . g.63719
TCCCTGTTGGTGATTTGTATAATAATAAG | CATTGGCATCTTCTATGGTTTTGTGGCAAAT c.540
S L L V I C I I I S | I G I F Y G F V A N p.180
. . . . . . g.63779
CACCAGGTAAGAACCCGGATCAAAAGGAGTCGGAAACTGGCAGATAGCAATTTCAAGGAC c.600
H Q V R T R I K R S R K L A D S N F K D p.200
. . . | 06 . . . g.64672
TTGCGAACTCTCTTGAATGAAACTCCAGAG | CAAATCAAATATATATTGGCCCAGTACAAC c.660
L R T L L N E T P E | Q I K Y I L A Q Y N p.220
. . . | 07 . . . g.65611
ACTACCAAGGACAAGGCGTTCACAGATCTGAACA | GTATCAATTCAGTGCTAGGAGGCGGA c.720
T T K D K A F T D L N S | I N S V L G G G p.240
. . . . . . g.65671
ATTCTTGACCGACTGAGACCCAACATCATCCCTGTTCTTGATGAGATTAAGTCCATGGCA c.780
I L D R L R P N I I P V L D E I K S M A p.260
| 08 . . . . . . g.70516
ACAG | CGATCAAGGAGACCAAAGAGGCGTTGGAGAACATGAACAGCACCTTGAAGAGCTTG c.840
T A | I K E T K E A L E N M N S T L K S L p.280
. . . . . . g.70576
CACCAACAAAGTACACAGCTTAGCAGCAGTCTGACCAGCGTGAAAACTAGCCTGCGGTCA c.900
H Q Q S T Q L S S S L T S V K T S L R S p.300
. . . . . . g.70636
TCTCTCAATGACCCTCTGTGCTTGGTGCATCCATCAAGTGAAACCTGCAACAGCATCAGA c.960
S L N D P L C L V H P S S E T C N S I R p.320
. . . . | 09 . . g.72778
TTGTCTCTAAGCCAGCTGAATAGCAACCCTGAACTGAGGCAG | CTTCCACCCGTGGATGCA c.1020
L S L S Q L N S N P E L R Q | L P P V D A p.340
. . . . . | 10. g.75665
GAACTTGACAACGTTAATAACGTTCTTAGGACAGATTTGGATGGCCTGGTCCAACAG | GGC c.1080
E L D N V N N V L R T D L D G L V Q Q | G p.360
. . . . . . g.75725
TATCAATCCCTTAATGATATACCTGACAGAGTACAACGCCAAACCACGACTGTCGTAGCA c.1140
Y Q S L N D I P D R V Q R Q T T T V V A p.380
| 11 . . . . . . g.79951
G | GTATCAAAAGGGTCTTGAATTCCATTGGTTCAGATATCGACAATGTAACTCAGCGTCTT c.1200
G | I K R V L N S I G S D I D N V T Q R L p.400
. . . . . . g.80011
CCTATTCAGGATATACTCTCAGCATTCTCTGTTTATGTTAATAACACTGAAAGTTACATC c.1260
P I Q D I L S A F S V Y V N N T E S Y I p.420
. . . . | 12 . . g.82329
CACAGAAATTTACCTACATTGGAAGAGTATGATTCATACTG | GTGGCTGGGTGGCCTGGTC c.1320
H R N L P T L E E Y D S Y W | W L G G L V p.440
. . . . . . g.82389
ATCTGCTCTCTGCTGACCCTCATCGTGATTTTTTACTACCTGGGCTTACTGTGTGGCGTG c.1380
I C S L L T L I V I F Y Y L G L L C G V p.460
. . . . . . g.82449
TGCGGCTATGACAGGCATGCCACCCCGACCACCCGAGGCTGTGTCTCCAACACCGGAGGC c.1440
C G Y D R H A T P T T R G C V S N T G G p.480
. | 13 . . . . . g.88427
GTCTTCCTCATGGT | TGGAGTTGGATTAAGTTTCCTCTTTTGCTGGATATTGATGATCATT c.1500
V F L M V | G V G L S F L F C W I L M I I p.500
. . . . . . g.88487
GTGGTTCTTACCTTTGTCTTTGGTGCAAATGTGGAAAAACTGATCTGTGAACCTTACACG c.1560
V V L T F V F G A N V E K L I C E P Y T p.520
. | 14 . . . . g.90554
AGCAAGGAATTATTCCGG | GTTTTGGATACACCCTACTTACTAAATGAAGACTGGGAATAC c.1620
S K E L F R | V L D T P Y L L N E D W E Y p.540
. . . . . . g.90614
TATCTCTCTGGGAAGCTATTTAATAAATCAAAAATGAAGCTCACTTTTGAACAAGTTTAC c.1680
Y L S G K L F N K S K M K L T F E Q V Y p.560
| 15 . . . . . . g.94987
AG | TGACTGCAAAAAAAATAGAGGCACTTACGGCACTCTTCACCTGCAGAACAGCTTCAAT c.1740
S | D C K K N R G T Y G T L H L Q N S F N p.580
. . | 16. . . . g.96642
ATCAGTGAACATCTCAACATTAATGAG | CATACTGGAAGCATAAGCAGTGAATTGGAAAGT c.1800
I S E H L N I N E | H T G S I S S E L E S p.600
. . . . . . g.96702
CTGAAGGTAAATCTTAATATCTTTCTGTTGGGTGCAGCAGGAAGAAAAAACCTTCAGGAT c.1860
L K V N L N I F L L G A A G R K N L Q D p.620
. . . . . | 17 . g.97716
TTTGCTGCTTGTGGAATAGACAGAATGAATTATGACAGCTACTTGGCTCAG | ACTGGTAAA c.1920
F A A C G I D R M N Y D S Y L A Q | T G K p.640
. . . . . . g.97776
TCCCCCGCAGGAGTGAATCTTTTATCATTTGCATATGATCTAGAAGCAAAAGCAAACAGT c.1980
S P A G V N L L S F A Y D L E A K A N S p.660
| 18 . . . . . . g.99233
TTG | CCCCCAGGAAATTTGAGGAACTCCCTGAAAAGAGATGCACAAACTATTAAAACAATT c.2040
L | P P G N L R N S L K R D A Q T I K T I p.680
. . . | 19 . . . g.101308
CACCAGCAACGAGTCCTTCCTATAGAACAATCACTG | AGCACTCTATACCAAAGCGTCAAG c.2100
H Q Q R V L P I E Q S L | S T L Y Q S V K p.700
. . . | 20 . . . g.102993
ATACTTCAACGCACAGGGAATGGATTGTTG | GAGAGAGTAACTAGGATTCTAGCTTCTCTG c.2160
I L Q R T G N G L L | E R V T R I L A S L p.720
. . . . . | 21 . g.103181
GATTTTGCTCAGAACTTCATCACAAACAATACTTCCTCTGTTATTATTGAG | GAAACTAAG c.2220
D F A Q N F I T N N T S S V I I E | E T K p.740
. . . . . . g.103241
AAGTATGGGAGAACAATAATAGGATATTTTGAACATTATCTGCAGTGGATCGAGTTCTCT c.2280
K Y G R T I I G Y F E H Y L Q W I E F S p.760
| 22 . . . . . . g.104705
| ATCAGTGAGAAAGTGGCATCGTGCAAACCTGTGGCCACCGCTCTAGATACTGCTGTTGAT c.2340
| I S E K V A S C K P V A T A L D T A V D p.780
. . . | 23 . . . g.108490
GTCTTTCTGTGTAGCTACATTATCGACCCCTTG | AATTTGTTTTGGTTTGGCATAGGAAAA c.2400
V F L C S Y I I D P L | N L F W F G I G K p.800
. . . . . . g.108550
GCTACTGTATTTTTACTTCCGGCTCTAATTTTTGCGGTAAAACTGGCTAAGTACTATCGT c.2460
A T V F L L P A L I F A V K L A K Y Y R p.820
. . | 24 . . | 25 . g.109544
CGAATGGATTCGGAGGACGTGTACGATGA | TGTTGAAACTATACCCATGAAAAA | TATGGAA c.2520
R M D S E D V Y D D | V E T I P M K N | M E p.840
. . . . . . g.109604
AATGGTAATAATGGTTATCATAAAGATCATGTATATGGTATTCACAATCCTGTTATGACA c.2580
N G N N G Y H K D H V Y G I H N P V M T p.860
| 26 . g.117976
AG | CCCATCACAACATTGA | c.2599
S | P S Q H X p.865
. . | 27 . . . . g.119710
tagctgatgttgaaactgcttgag | catcaggatactcaaagtggaaaggatcacagattt c.*60
. . . . . . g.119770
ttggtagtttctgggtctacaaggactttccaaatccaggagcaacgccagtggcaacgt c.*120
. . . . . . g.119830
agtgactcaggcgggcaccaaggcaacggcaccattggtctctgggtagtgctttaagaa c.*180
. . . . . . g.119890
tgaacacaatcacgttatagtccatggtccatcactattcaaggatgactccctcccttc c.*240
. . . . . . g.119950
ctgtctatttttgttttttacttttttacactgagtttctatttagacactacaacatat c.*300
. . . . . . g.120010
ggggtgtttgttcccattggatgcatttctatcaaaactctatcaaatgtgatggctaga c.*360
. . . . . . g.120070
ttctaacatattgccatgtgtggagtgtgctgaacacacaccagtttacaggaaagatgc c.*420
. . . . . . g.120130
attttgtgtacagtaaacggtgtatataccttttgttaccacagagttttttaaacaaat c.*480
. . . . . . g.120190
gagtattataggactttcttctaaatgagctaaataagtcaccattgacttcttggtgct c.*540
. . . . . . g.120250
gttgaaaataatccattttcactaaaagtgtgtgaaacctacagcatattcttcacgcag c.*600
. . . . . . g.120310
agattttcatctattatactttatcaaagattggccatgttccacttggaaatggcatgc c.*660
. . . . . . g.120370
aaaagcaatcatagagaaacctgcgtaactccatctgacaaattcaaaagagagagagag c.*720
. . . . . . g.120430
atcttgagagagaaatgctgttcgttcaaaagtggagttgttttaacagatgccaattac c.*780
. . . . . . g.120490
ggtgtacagtttaacagagttttctgttgcattaggataaacattaattggagtgcagct c.*840
. . . . . . g.120550
aacatgagtatcatcagactagtatcaagtgttctaaaatgaaatatgagaagatcctgt c.*900
. . . . . . g.120610
cacaattcttagatctggtgtccagcatggatgaaacctttgagtttggtccctaaattt c.*960
. . . . . . g.120670
gcatgaaagcacaaggtaaatattcatttgcttcaggagtttcatgttggatctgtcatt c.*1020
. . . . . . g.120730
atcaaaagtgatcagcaatgaagaactggtcggacaaaatttaacgttgatgtaatgaaa c.*1080
. . . . . . g.120790
ttccagatgtaggcattccccccaggtcttttcatgtgcagattgcagttctgattcatt c.*1140
. . g.120817
tgaataaaaaggaacttggaaaacatg c.*1167
(downstream sequence)
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