(used for variant description)
(last modified November 11, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001142966.1 in the GREB1L gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000018.9, covering GREB1L transcript NM_001142966.1.
(upstream sequence)
. . . g.5031
cagccgccggcggcgctagcacctcggagtc c.-241
. . . . . . g.5091
gggcggccggagcagcggagcgcagcgcggcgcagggaacggcactgggggtggggagac c.-181
. . . . . . g.5151
cagcccggccgagccgagggccaccccctggtcctctgccctcgcgccccgctagggcca c.-121
. | 02 . . . . . g.128844
g | gtgcacaaaaagctttaaacaagttaaaatctaggcaacagactccctgaagtgttgac c.-61
. . . . . . | 03 g.146277
tgcccaacttaatcatgactgtgattcaaaaatgttaataaataaaccaag | gtgtagatc c.-1
. . . . . . g.146337
ATGGGGAATTCATATGCTGGGCAACTGAAATCTGCTCGATTTGAGGAAGCTCTCCACAAC c.60
M G N S Y A G Q L K S A R F E E A L H N p.20
. . . . . . g.146397
TCCATAGAAGCCTCCCTCAGATGTAGTAGTGTGGTACCACGGCCAATTTTTTCCCAGCTA c.120
S I E A S L R C S S V V P R P I F S Q L p.40
. . . | 04. . . g.146987
TACCTGGACCCTGACCAGCATCCTTTCTCATCTGCAG | ATGTCAAACCCAAGGTGGAGGAT c.180
Y L D P D Q H P F S S A D | V K P K V E D p.60
. . . . . . g.147047
CTGGACAAAGATTTGGTAAACCGCTACACTCAAAATGGAAGTCTGGATTTTTCTAACAAT c.240
L D K D L V N R Y T Q N G S L D F S N N p.80
. . . . . . g.147107
CTAACAGTTAATGAAATGGAAGATGATGAAGACGATGAAGAAATGTCTGATTCAAACAGC c.300
L T V N E M E D D E D D E E M S D S N S p.100
. . . . . | 05 . g.158148
CCACCAATTCCCTATTCACAAAAACCTGCCCCAGAAGGATCTTGCACTACAGATG | GTTTT c.360
P P I P Y S Q K P A P E G S C T T D G | F p.120
. . . . . . g.158208
TGTCAAGCAGGAAAGGATTTGCGTTTGGTATCACTGTGTATGGAACAAATTGACATCCCA c.420
C Q A G K D L R L V S L C M E Q I D I P p.140
. . . . . . g.158268
GCAGGATTCCTCCTGGTGGGGGCCAAGTCTCCCAATCTGCCTGAACACATCCTAGTTTGT c.480
A G F L L V G A K S P N L P E H I L V C p.160
. . . . . | 06 . g.163916
GCTGTGGACAAGCGATTTCTACCAGATGATCATGGAAAAAATGCACTTTTAG | GGTTTTCT c.540
A V D K R F L P D D H G K N A L L G | F S p.180
. . . . . . g.163976
GGAAATTGTATCGGCTGTGGAGAAAGAGGATTTCGATATTTCACGGAATTTTCCAACCAC c.600
G N C I G C G E R G F R Y F T E F S N H p.200
. . . . . . g.164036
ATTAACTTGAAGCTCACCACTCAGCCAAAGAAGCAGAAGCACTTAAAGTACTACCTAGTC c.660
I N L K L T T Q P K K Q K H L K Y Y L V p.220
. . . . | 07 . g.166641
AGAAGCTCCCAGGGTGTACTGTCTAAAGGACCTCTTATCTGCTGGAAAG | AATGTAGAAGC c.720
R S S Q G V L S K G P L I C W K E | C R S p.240
. . . . . . g.166701
CGACAATCCTCTGCTTCTTGCCACTCTATTAAGCCAAGCTCTTCAGTGTCGTCAACTGTG c.780
R Q S S A S C H S I K P S S S V S S T V p.260
. . . . . | 08 . g.202287
ACCCCAGAAAATGGGACAACTAATGGATACAAATCAGGATTCACTCAGACAG | ATGCTGCT c.840
T P E N G T T N G Y K S G F T Q T D | A A p.280
. . . . . . g.202347
AATGGAAACAGTAGCCATGGAGGGAAGGGCAGTGCATCCAGCTCCACTCCAGCCCACACA c.900
N G N S S H G G K G S A S S S T P A H T p.300
. . . . | 09 . g.203038
GGGAATTACTCTTTGTCACCACGACCTAGCTATGCATCAGGAGATCAAG | CTACCATGTTC c.960
G N Y S L S P R P S Y A S G D Q A | T M F p.320
. . . . . . g.203098
ATTTCTGGGCCACCAAAGAAACGACACCGGGGATGGTATCCTGGGTCACCTCTCCCCCAA c.1020
I S G P P K K R H R G W Y P G S P L P Q p.340
. . . . | 10 . g.204169
CCTGGCTTAGTTGTACCTGTCCCTACAGTTCGCCCTCTTTCAAGAACGG | AGCCCCTTTTA c.1080
P G L V V P V P T V R P L S R T E | P L L p.360
. . . . . . g.204229
TCTGCCCCAGTTCCACAGACCCCACTAACTGGAATTTTACAACCCAGGCCCATTCCTGCA c.1140
S A P V P Q T P L T G I L Q P R P I P A p.380
. . . . . . g.204289
GGGGAAACTGTAATTGTTCCTGAAAACCTGCTGAGTAACTCAGGAGTTAGACCAGTAATT c.1200
G E T V I V P E N L L S N S G V R P V I p.400
| 11. . . . . . g.207035
CTGATAG | GCTATGGCACTTTACCCTATTTCTATGGAAATGTTGGTGACATTGTTGTGAGT c.1260
L I G | Y G T L P Y F Y G N V G D I V V S p.420
. . . . . . g.207095
CCTCTGCTGGTGAATTGCTACAAGATTCCACAGTTGGAAAACAAAGATTTGGAAAAATTA c.1320
P L L V N C Y K I P Q L E N K D L E K L p.440
. . . . . . g.207155
GGGTTGACCGGCAGCCAATTTCTGAGCGTGGAAAACATGATTCTTCTGACGATACAGTAT c.1380
G L T G S Q F L S V E N M I L L T I Q Y p.460
. | 12 . . . . . g.212315
CTTGTGCGGCTGG | GTCCTGATCAGGTACCTCTCAGGGAAGAATTTGAGCAAATTATGCTG c.1440
L V R L G | P D Q V P L R E E F E Q I M L p.480
. . . . . . g.212375
AAAGCTATGCAAGAATTTACTCTGAGAGAAAGAGCCCTGCAGATAGGTGCTCAGTGTGTC c.1500
K A M Q E F T L R E R A L Q I G A Q C V p.500
. . . . . . g.212435
CCTGTGTCACCAGGACAACTCCCCTGGCTTGCTAGATTAATTGCCAGCGTATCTCAAGAC c.1560
P V S P G Q L P W L A R L I A S V S Q D p.520
. . . . . . g.212495
TTGGTTCATGTGGTTGTGACCCAGAACTCTTTGGCGGAGGGCATTTCAGAGACCTTAAGG c.1620
L V H V V V T Q N S L A E G I S E T L R p.540
. . . . . . g.212555
ACTCTCAGTGAAATGAGACACTATCAAAGGCTGCCAGATTATGTGGTGGTAATTTGTGCA c.1680
T L S E M R H Y Q R L P D Y V V V I C A p.560
. . . . | 13 . . g.213801
TCGAAAATCAGAGGAAATGAATTTTGTGTGGTAGTGTTAG | GTCAGCACCAGTCCCGAGCT c.1740
S K I R G N E F C V V V L G | Q H Q S R A p.580
. . . . . . g.213861
CTGGCAGAGAGCATGCTCACCACAAGTGAGTTTTTGAAAGAAATTAGTTATGAGCTTATC c.1800
L A E S M L T T S E F L K E I S Y E L I p.600
. . . . | 14 . g.214852
ACAGGAAAGGTCAGTTTCCTGGCATCACATTTCAAAACCACATCATTAG | GCGATGACCTA c.1860
T G K V S F L A S H F K T T S L G | D D L p.620
. . . . . . g.214912
GACAAGCTGCTGGAAAAAATGCAACAAAGAAGAGGAGACAGTGTGGTTACCCCTTTCGAT c.1920
D K L L E K M Q Q R R G D S V V T P F D p.640
. . . . . . g.214972
GGAGACCTTAATGAATGTGTGTCACCCCAGGAGGCTGCTGCTATGATTCCCACACAAAAC c.1980
G D L N E C V S P Q E A A A M I P T Q N p.660
| 15 . . . . . . g.217180
CTGG | ATTTAGATAATGAAACCTTCCACATTTATCAACCGCAGCTAACAGTTGCCAGAAAA c.2040
L D | L D N E T F H I Y Q P Q L T V A R K p.680
. . . . . . g.217240
CTCTTATCCCAGGTGTGTGCTATAGCGGACAGTGGCAGCCAGAGCCTGGACCTCGGTCAC c.2100
L L S Q V C A I A D S G S Q S L D L G H p.700
. . . . . . g.217300
TTCAGCAAAGTAGACTTCATCATCATTGTTCCCAGATCGGAGGTGTTGGTTCAGCAAACT c.2160
F S K V D F I I I V P R S E V L V Q Q T p.720
. . | 16 . . . . g.235827
CTTCAGCGGATTCGACAATCAG | GTGTCCTTGTAGACTTGGGTCTGGAGGAAAATGGGACA c.2220
L Q R I R Q S G | V L V D L G L E E N G T p.740
. . . . . . g.235887
GCCCATCAGAGAGCAGAAAAATATGTTGTTCGTCTAGACAATGAGATTCAAACCAAGTTT c.2280
A H Q R A E K Y V V R L D N E I Q T K F p.760
. . . . . . g.235947
GAAGTTTTTATGAGGAGAGTGAAACAGAACCCGTACACACTGTTTGTGCTAGTTCATGAC c.2340
E V F M R R V K Q N P Y T L F V L V H D p.780
. . | 17 . . . . g.239959
AACTCCCATGTGGAACTAACGAG | TGTCATTTCAGGCTCTTTGTCACATAGCGAACCCAGT c.2400
N S H V E L T S | V I S G S L S H S E P S p.800
. . . . . . g.240019
CATGGGCTAGCTGATAGAGTCATTAATTGCAGAGAAGTTCTGGAAGCTTTCAACCTCCTG c.2460
H G L A D R V I N C R E V L E A F N L L p.820
. . . . . . g.240079
GTGCTCCAGGTCAGCTCCTTCCCATACACTCTGCAGACCCAACAGTCCCGCATTAGCTCT c.2520
V L Q V S S F P Y T L Q T Q Q S R I S S p.840
. . . | 18 . . . g.248402
AGCAATGAGGTTCACTGGATACAGCTGGATACTGGG | GAGGACGTGGGCTGCGAGGAGAAG c.2580
S N E V H W I Q L D T G | E D V G C E E K p.860
. . . . . . g.248462
CTGTACTTTGGCTTGAGTGAGTACAGCAAGTCTCTGCAGTGGGGGATCACGAGCCCACTT c.2640
L Y F G L S E Y S K S L Q W G I T S P L p.880
. . . . . | 19 . g.252780
CTGAGATGTGACGAGACTTTTGAAAAAATGGTGAACACACTCTTGGAGAG | GTACCCCAGG c.2700
L R C D E T F E K M V N T L L E R | Y P R p.900
. . . . . . g.252840
CTGCACAGCATGGTCGTCCGCTGCTATCTTCTCATCCAGCAGTACTCTGAGGCCCTGATG c.2760
L H S M V V R C Y L L I Q Q Y S E A L M p.920
. . . . . . g.252900
GCTCTCACCACCATGGCGTCACTCCGCGACCACAGCACACCAGAAACACTCAGCATTATG c.2820
A L T T M A S L R D H S T P E T L S I M p.940
. . . . . . g.252960
GATGACCTCATCAGCTCCCCAGGCAAAAACAAAAGTGGGAGGGGACACATGCTCATTATC c.2880
D D L I S S P G K N K S G R G H M L I I p.960
. . . . . . g.253020
AGGGTGCCCTCGGTGCAGCTGGCGATGTTAGCCAAGGAGCGGCTACAGGAGGTGCGCGAC c.2940
R V P S V Q L A M L A K E R L Q E V R D p.980
. . . . . . g.253080
AAACTGGGTCTGCAGTATCGGTTTGAGATCATCCTTGGGAACCCGGCCACCGAACTCAGT c.3000
K L G L Q Y R F E I I L G N P A T E L S p.1000
. . . | 20 . . . g.258458
GTTGCAACTCACTTTGTGGCGCGATTAAAG | AGTTGGAGAGGAAATGAACCAGAAGAGTGG c.3060
V A T H F V A R L K | S W R G N E P E E W p.1020
. . . . . . g.258518
ATCCCTCGGACATACCAAGATTTAGACGGTCTACCTTGTATTGTGATATTAACTGGCAAA c.3120
I P R T Y Q D L D G L P C I V I L T G K p.1040
. . | 21 . . . . g.259246
GATCCTCTTGGAGAAACCTTTCCCAG | GTCTTTGAAGTACTGTGACCTCCGGTTAATTGAC c.3180
D P L G E T F P R | S L K Y C D L R L I D p.1060
. . . . . . g.259306
TCAAGCTATTTAACTCGCACGGCCTTGGAGCAGGAGGTGGGTCTGGCATGCTGCTATGTC c.3240
S S Y L T R T A L E Q E V G L A C C Y V p.1080
. . . . . . g.259366
TCAAAAGAGGTCATCCGGGGACCCACTGTTGCCCTGGACCTCAGCGGGAAGGAGCAGGAG c.3300
S K E V I R G P T V A L D L S G K E Q E p.1100
. . . . . . g.259426
AGAGCTGCTGTCAGTGAGAATGACTCCGATGAGCTGCTCATCGACCTGGAGCGGCCCCAG c.3360
R A A V S E N D S D E L L I D L E R P Q p.1120
. . . | 22 . . . g.262516
AGCAACAGCAGCGCTGTCACAGGGACCTCGG | GTTCCATCATGGAGAATGGAGTGAGCTCT c.3420
S N S S A V T G T S G | S I M E N G V S S p.1140
. . . . . . g.262576
TCCAGCACAGCTGACAAGTCCCAGAAGCAGTCCCTGACCCCCAGCTTTCAGAGCCCAGCC c.3480
S S T A D K S Q K Q S L T P S F Q S P A p.1160
. . . . . . g.262636
ACCAGCTTGGGGCTGGATGAAGGGGTCTCCGCCAGCTCAGCTGGAGCCGGAGCCGGGGAG c.3540
T S L G L D E G V S A S S A G A G A G E p.1180
. . . . . . g.262696
ACTCTGAAGCAGGAATGTGACTCCCTGGGCCCCCAGATGGCGAGCAGCACCACCTCCAAG c.3600
T L K Q E C D S L G P Q M A S S T T S K p.1200
. . . . . . g.262756
CCGTCATCATCATCCTCAGGACCCAGGACCCTCCCATGGCCGGGACAGCCCATCAGAGGC c.3660
P S S S S S G P R T L P W P G Q P I R G p.1220
. . . . . . g.262816
TGCCGGGGCCCACAGGCAGCCCTGCCACCAGTGGTGATCCTATCCAAAGCGGCCTACAGT c.3720
C R G P Q A A L P P V V I L S K A A Y S p.1240
. . . . . . g.262876
CTCCTGGGCTCCCAGAAGAGTGGCAAGCTGCCATCCTCCTCCTCCCTGCTGCCCCACGCC c.3780
L L G S Q K S G K L P S S S S L L P H A p.1260
. . . . . . g.262936
GACGTGGCCTGGGTGAGCTCCCTGCGGCCACTCCTGAACAAGGACATGAGCAGTGAGGAG c.3840
D V A W V S S L R P L L N K D M S S E E p.1280
. . . . . . g.262996
CAGTCCCTCTACTACAGGCAGTGGACCTTGGCCCGGCAGCACCACGCTGACTATAGCAAC c.3900
Q S L Y Y R Q W T L A R Q H H A D Y S N p.1300
. . . . . . g.263056
CAGCTGGACCCGGCCTCTGGCACCCGAAACTTCCACCCCCGACGGCTCCTGCTGACAGGG c.3960
Q L D P A S G T R N F H P R R L L L T G p.1320
| 23 . . . . . g.263349
CCCCCACAG | GTGGGAAAGACGGGCTCCTATTTACAGTTCCTCAGGATCCTCTTCCGCATG c.4020
P P Q | V G K T G S Y L Q F L R I L F R M p.1340
. . . . . | 24 . g.268178
CTCATCAGGCTCCTGGAGGTGGACGTGTATGATGAGGAGGAGATCAACACCG | ATCACAAT c.4080
L I R L L E V D V Y D E E E I N T D | H N p.1360
. . . . . . g.268238
GAAAGCAGTGAAGTGAGCCAGTCAGAGGGAGAGCCCTGGCCTGACATCGAGAGCTTCAGT c.4140
E S S E V S Q S E G E P W P D I E S F S p.1380
. . . . . . g.268298
AAAATGCCTTTTGATGTCAGTGTGCATGACCCCAAGTACAGTTTGATGAGCCTGGTGTAT c.4200
K M P F D V S V H D P K Y S L M S L V Y p.1400
. . | 25 . . . g.268600
ACTGAGAAGCTGGCAGGGGTCAAACAAG | AAGTGATAAAGGAATCCAAAGTTGAAGAGCCC c.4260
T E K L A G V K Q E | V I K E S K V E E P p.1420
. . . . . . g.268660
AGGAAACGGGAAACTGTATCCATAATGCTGACCAAATATGCAGCCTATAACACCTTTCAC c.4320
R K R E T V S I M L T K Y A A Y N T F H p.1440
. . . . | 26 . g.270888
CACTGTGAACAGTGCCGCCAGTACATGGACTTCACCTCTGCCTCCCAG | ATGTCTGACTCC c.4380
H C E Q C R Q Y M D F T S A S Q | M S D S p.1460
. . . . . . g.270948
ACCCTTCATGCCTTCACATTCTCTTCTTCTATGCTGGGAGAAGAGGTTCAGCTCTATTTC c.4440
T L H A F T F S S S M L G E E V Q L Y F p.1480
. . . . . . g.271008
ATCATTCCCAAATCCAAAGAGAGTCATTTTGTCTTCAGCAAGCAGGGCAAGCACCTGGAG c.4500
I I P K S K E S H F V F S K Q G K H L E p.1500
. . . | 27 . . . g.271175
AGCATGCGGCTGCCCCTGGTTTCAGACAAG | AATTTGAATGCAGTCAAGAGCCCTATTTTC c.4560
S M R L P L V S D K | N L N A V K S P I F p.1520
. . . . . . g.271235
ACTCCTTCCAGTGGTCGACATGAGCACGGACTCCTAAACCTTTTCCACGCCATGGAGGGC c.4620
T P S S G R H E H G L L N L F H A M E G p.1540
. . . . . . g.271295
ATCAGCCACCTTCACCTCCTGGTGGTCAAAGAGTATGAGATGCCTCTGTACCGCAAGTAC c.4680
I S H L H L L V V K E Y E M P L Y R K Y p.1560
. . . . . | 28 . g.276584
TGGCCCAACCACATCATGCTGGTGCTTCCCGGCATGTTCAATAATGCAGGCGTGG | GTGCT c.4740
W P N H I M L V L P G M F N N A G V G | A p.1580
. . . . . . g.276644
GCCAGGTTCCTCATCAAGGAGCTATCATATCACAACCTAGAATTGGAGAGAAACCGCCTG c.4800
A R F L I K E L S Y H N L E L E R N R L p.1600
. . . . . . g.276704
GAGGAGCTAGGCATTAAACGCCAGTGTGTCTGGCCTTTCATCGTCATGATGGATGACTCA c.4860
E E L G I K R Q C V W P F I V M M D D S p.1620
. . . . | 29 . . g.278194
TGTGTCCTATGGAACATTCACAGTGTTCAGGAGCCATCCAG | CCAGCCCATGGAAGTAGGA c.4920
C V L W N I H S V Q E P S S | Q P M E V G p.1640
. . . . . . g.278254
GTTTCCAGTAAGAATGTGTCCTTGAAGACTGTCTTGCAGCACATTGAAGCCACACCAAAA c.4980
V S S K N V S L K T V L Q H I E A T P K p.1660
. . . . . . g.278314
ATTGTCCACTATGCAATCTTGGGCATACAGAAATGGAGCAGCAAGCTGACTTCTCAGAGC c.5040
I V H Y A I L G I Q K W S S K L T S Q S p.1680
. . . . . . g.278374
CTAAAGGCCCCATTCTCTAGGTGTCACGTGCATGATTTCATTCTCCTCAACACAGACTTG c.5100
L K A P F S R C H V H D F I L L N T D L p.1700
. . | 30 . . . g.279402
ACTCAGAATGTGCAGTATGACTTCAACAG | GTATTTCTGTGAAGATGCTGACTTTAATCTG c.5160
T Q N V Q Y D F N R | Y F C E D A D F N L p.1720
. . . . . . g.279462
AGAACAAACAGTAGTGGCCTGCTCATCTGCCGCTTTAATAACTTCAGTCTCATGAAGAAA c.5220
R T N S S G L L I C R F N N F S L M K K p.1740
. . . . . | 31 . g.280801
CATGTTCAGGTTGGAGGGCAAAGGGACTTTATCATTAAACCAAAGATCATG | GTGTCAGAG c.5280
H V Q V G G Q R D F I I K P K I M | V S E p.1760
. . . . . . g.280861
AGCTTAGCACCCATCTTGCCCCTTCAATACATCTGTGCTCCCGACAGTGAACACACACTA c.5340
S L A P I L P L Q Y I C A P D S E H T L p.1780
. . . . . . g.280921
CTGGCAGCCCCTGCACAGTTTCTCCTGGAGAAATTCCTTCAGCACGCCTCATATAAACTC c.5400
L A A P A Q F L L E K F L Q H A S Y K L p.1800
. . . . . . g.280981
TTCCCCAAAGCCATCCATAACTTCAGGAGTCCTGTGCTGGCCATTGACTGCTACCTTAAC c.5460
F P K A I H N F R S P V L A I D C Y L N p.1820
. | 32 . . . . . g.283494
ATTGGACCAGAG | GTGGCCATATGCTATATCAGCTCCAGACCCCACTCCAGCAATGTCAAC c.5520
I G P E | V A I C Y I S S R P H S S N V N p.1840
. . . . . . g.283554
TGTGAAGGGGTGTTTTTCAGTGGACTCCTTTTGTACCTCTGTGACTCTTTTGTAGGTGCT c.5580
C E G V F F S G L L L Y L C D S F V G A p.1860
. . | 33 . . . g.285448
GATCTTAAGAAATTTAAATTTCTAAAAG | GTGCTACACTGTGTGTCATCTGCCAAGACAGA c.5640
D L K K F K F L K G | A T L C V I C Q D R p.1880
. . . . . . g.285508
AGTTCCTTGCGCCAAACAATTGTCCGCTTAGAGCTAGAAGATGAGTGGCAGTTCCGCCTC c.5700
S S L R Q T I V R L E L E D E W Q F R L p.1900
. . . . . . g.285568
CGGGACGAGTTTCAAACTGCTAACAGCAGTGATGACAAGCCTCTCTACTTTCTTACTGGA c.5760
R D E F Q T A N S S D D K P L Y F L T G p.1920
. g.285580
CGTCATGTATGA c.5772
R H V X p.1923
g.285589
gcttttgaa c.*9
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 20b
©2004-2017 Leiden University Medical Center