(used for variant description)
(last modified September 29, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_152513.3 in the MEI1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000022.10, covering MEI1 transcript NM_152513.3.
(upstream sequence)
. . g.5025
gcctcagctgagggcaagcgaggag c.-1
. . . . . . g.5085
ATGGCTGTGAGGCAGGCGGCGACGGCGGGCACTCCCGGGCCCAGGAGAGAGGAAGAGGCG c.60
M A V R Q A A T A G T P G P R R E E E A p.20
. . . . . . g.5145
GCGCTTCTATTCGAGAGGGCCCATTACCGGCACGACCCGCGCTGGCTGCTGCCCGTGACC c.120
A L L F E R A H Y R H D P R W L L P V T p.40
. . . . . | 02 . g.8823
CCCCGCCTGTGCCTGGCCTGCGCGCTGGAGCTGCTGCCGGACCCCGGCGTGTCG | TTAGTG c.180
P R L C L A C A L E L L P D P G V S | L V p.60
. . . . . . g.8883
CGCAAGAAGCACATGTTGTCCTGCTTCCAAGATGCCCTTGTGAGGCATACCTCCCTGGTC c.240
R K K H M L S C F Q D A L V R H T S L V p.80
. . . . . | 03 g.10992
ACGCAACTGGTGTCTCAGGATCAGAGAGTCTGCATCCACTTCATAAGTGTGCTTTTTG | GA c.300
T Q L V S Q D Q R V C I H F I S V L F G | p.100
. . . . | 04 . g.19499
CTATTATGCAGCATGGAAGATGGGAGTGTGACAGACCTCTGTATTGAAG | TCCTTATTCAG c.360
L L C S M E D G S V T D L C I E V | L I Q p.120
. . . . . . g.19559
ATCACAACGCAGCTGAAGCTGGAGCAGACTATCCGTTGCCTGCTGGATGAGTGCCACAAA c.420
I T T Q L K L E Q T I R C L L D E C H K p.140
| 05 . . . . . . g.21584
GAG | CTGTGTAACATGCCCTCCATGCGAGGCAGCCTGGCCACCCTGACCCTTCTTGGCAAG c.480
E | L C N M P S M R G S L A T L T L L G K p.160
. . . . | 06 . g.23568
TTGGTGGATGCCATCCCTGCTCTGGCAGACGAGCTTGTAATGGAGCATG | GCAACCTGATG c.540
L V D A I P A L A D E L V M E H G | N L M p.180
. . . . . . g.23628
GAGCATCTGTTGAGAGGCTTAGTATACCCCAGTGAGGGCATACAAGCTTCTGTCTGTTAC c.600
E H L L R G L V Y P S E G I Q A S V C Y p.200
. . . . . . g.23688
CTTTATGGGAAGCTATACTCCTCACCAGTGGCAGCTGAGATGCTTTCAGGACACTTCCGT c.660
L Y G K L Y S S P V A A E M L S G H F R p.220
. . . . . . g.23748
GAGAAGCTTTTTCCCCTCTTCCTTTCCATCCTGGATGGTGCCCAGACAAAGGAGCTGCAG c.720
E K L F P L F L S I L D G A Q T K E L Q p.240
. | 07 . . . . . g.29476
ATTAACTGCTTGG | GTTTGCTGAGGCAGCTGTTGAAGTATGATCTCTTTGTGTCCATGATC c.780
I N C L G | L L R Q L L K Y D L F V S M I p.260
. . . . . . g.29536
ATGAACCAGGATGGACTGGGAGAAAGTGCTAAGAATATCGAAGGGTCATCAGGAAATACC c.840
M N Q D G L G E S A K N I E G S S G N T p.280
. . | 08 . . . . g.35187
TCACTGCCTTTGGTGCTCAAAAAG | CTTCTCCTCTCTAGAGATGAAACCCTGCAGGTGGCC c.900
S L P L V L K K | L L L S R D E T L Q V A p.300
. . . . . . g.35247
AGTGCTCACTGTATAACTGCGGTGCTTGTCCACTCCCCAGCAAAGCATGCGTCAGCCTTC c.960
S A H C I T A V L V H S P A K H A S A F p.320
. | 09 . . . . g.36048
ATCCACGCTGACATCCCAG | AGTTCCTCTTTGAGCATCTTTCTTCTTCCAGTGAAGTGCTC c.1020
I H A D I P E | F L F E H L S S S S E V L p.340
. . . . . . g.36108
GTCTGGTCCAGCTGTAACTGCTTGACACTCCTGGTAGAAGAGCCACTCTTTTTTTCCAAG c.1080
V W S S C N C L T L L V E E P L F F S K p.360
. | 10 . . . . . g.37775
TGCCACACGGTGTATG | GGATCGAGGCAGTGGTGAGGAGCCTGCAGGGAAGCCTGAAGATG c.1140
C H T V Y G | I E A V V R S L Q G S L K M p.380
. . . . . | 11 . g.37959
AACAACATAGAGCTGCACAAGCAGGGCCTGCTGCTTTTCGCTGAAATCCTGACCCG | GCAG c.1200
N N I E L H K Q G L L L F A E I L T R | Q p.400
. . . . . . g.38019
CCAGAGGAGATCAAGCTGTTCACAAGCTCAGCCATGTGCAGAGATGCTGGCCGTGCCCTC c.1260
P E E I K L F T S S A M C R D A G R A L p.420
. . . . . . g.38079
CAAGAAGCAGTTAGCAGCCCTGTGCTGGAGGTGGCTGCTGAGGCCTTGAAGGCCACTTCT c.1320
Q E A V S S P V L E V A A E A L K A T S p.440
. | 12 . . . . . g.48615
GCTTTTCTGAG | GAAGGACCATCAGAGCACTCCACCTGTGCAGTATGGGGAACTGCAGGCT c.1380
A F L R | K D H Q S T P P V Q Y G E L Q A p.460
. . . . . . g.48675
TTGCTAGAAGCCATGCTAAACCGATGTGCGGAGTTTTCCCAGACCTTGCTGAGCAGGAGG c.1440
L L E A M L N R C A E F S Q T L L S R R p.480
| 13 . . . . . . g.50513
CCCCTG | GGCCATGCCTCCAGTAGAGATTCAGAGAAGGCCATTCTTCAAAGGGGAAAGTTC c.1500
P L | G H A S S R D S E K A I L Q R G K F p.500
. . . | 14 . . g.51393
CTCCTCAGCACTCTGGAGGGATTTAGAAGTGCCTGCAG | GTTGGCTATAGAATTCCAGAGT c.1560
L L S T L E G F R S A C R | L A I E F Q S p.520
. . . . . . g.51453
GAGCCTTCAGCCCAGGAGAATCCATTCACAGCTCCCAGCGCCAAGAAGGAAGACACCTTG c.1620
E P S A Q E N P F T A P S A K K E D T L p.540
. . . . . . g.51513
GAGGCCTTCTCAGAATTTCTTCTCAGTGCCTGTGACTCGCTGTGTATCCCCATGGTGATG c.1680
E A F S E F L L S A C D S L C I P M V M p.560
| 15 . . . . . . g.53653
| AGACACTTGGAGCAGACCACCCACCCAGCTTTGATGGAAGTTTTCCTCTCAATTCTACAT c.1740
| R H L E Q T T H P A L M E V F L S I L H p.580
. . . . . | 16 . g.58085
AACCTCTTTGTCATCGTTCCCCACATGAAGGAGAAGTTTTCCAAGAAGCTTG | CTTCCTCA c.1800
N L F V I V P H M K E K F S K K L A | S S p.600
. . . . . | 17 . g.59442
TCCTTCATACGACTGACCCTGGAGCTGAAGGCCAGGTTTTGCAGTGGTCTGAG | TCACTCA c.1860
S F I R L T L E L K A R F C S G L S | H S p.620
. . . . . . g.59502
GCCCTAAACCAGGTGTGTTCCAATTTCCTCTACTATATGTGCCTCAACCTTCTCTCAGCT c.1920
A L N Q V C S N F L Y Y M C L N L L S A p.640
. . . | 18 . . . g.63880
CCAGAGAAGACAGGACCACCTTCCAAAGAAG | AACTCTCTGCAGTGTCTGAGCTCCTGCAG c.1980
P E K T G P P S K E E | L S A V S E L L Q p.660
. . . . . . g.63940
CATGGGCTGCCCCAGATAAGCAGCAGGAGCCCTGAAAGCCTTGCCTTCCTGTCTGATCGC c.2040
H G L P Q I S S R S P E S L A F L S D R p.680
. . . . . . g.64000
CAGTACATGGAGGGAGCTGCTCGCCAGAGACAGTACTGCATCCTGCTCCTCTTCTACTTG c.2100
Q Y M E G A A R Q R Q Y C I L L L F Y L p.700
. . | 19 . . . . g.68700
GCCTACATCCATGAAGACAG | GTTTGTCTCAGAGGCAGAGTTATTTGAGGCTGTGCAAAGC c.2160
A Y I H E D R | F V S E A E L F E A V Q S p.720
. . . . . . g.68760
TTCCTCCTGTCGCTGCAGGACCAGGGCGAGCGCCCCCCACTGGTGGTCTTCAAAGCCTCC c.2220
F L L S L Q D Q G E R P P L V V F K A S p.740
. . . . | 20 . g.76184
ATCTATCTGCTTGCAATCTGCCAGGACAAAGACAATACACTACGTGAG | ACTATGGTCAGT c.2280
I Y L L A I C Q D K D N T L R E | T M V S p.760
. . . . . . g.76244
GCAATCAGAAAATTCCTAGAAGGCATCCCAGACCTGCAGCTAGTCTATACTCACCATCCG c.2340
A I R K F L E G I P D L Q L V Y T H H P p.780
. . . . . . g.76304
CTCCTGCTCAGGTTCTTTCTGTTGTATCCAGAGCTCATGAGTAGGTATGGGCACCGTGTC c.2400
L L L R F F L L Y P E L M S R Y G H R V p.800
. . . . . . g.76364
CTGGAACTTTGGTTCTTCTGGGAAGAGAGCAGCTATGAGGAACTGGATGATGTCACCTCT c.2460
L E L W F F W E E S S Y E E L D D V T S p.820
. . . . . . g.76424
GCTGGGCAGCCCGCCCTTCCTGCCAGCTTAGTAGTCCTGTTCCAGTTGCTCAGAAGCATC c.2520
A G Q P A L P A S L V V L F Q L L R S I p.840
. . | 21 . . . . g.81624
CCCAGCATCCTGCTCATCTTGCTG | GACCTCATCTATTCCAGCCCAGTGGACACAGCTCAC c.2580
P S I L L I L L | D L I Y S S P V D T A H p.860
. . . . . . g.81684
AAGGTACTGATTAGCCTGAGGACCTTCCTGAGGAGGAATGAGGATATCCAAGTGGGCGGT c.2640
K V L I S L R T F L R R N E D I Q V G G p.880
. . . . . . g.81744
CTTATCCGAGGCCACTTCCTGCTGATCCTGCAGCGTCTGCTAGTGGAGCATGGGGCATCC c.2700
L I R G H F L L I L Q R L L V E H G A S p.900
. | 22 . . . . . g.84244
CCATCAGGAG | CCTCGGGGAACCTACCATTGCTGCTGAGCCTCCTCTCCCTGATGCAGCTC c.2760
P S G A | S G N L P L L L S L L S L M Q L p.920
. . . . . | 23 . g.86775
AGGAATGTGTCAGAGCAAGAACTGGACAGCGTGGCCATGAAGCTCCTTCACCAAG | TAAGC c.2820
R N V S E Q E L D S V A M K L L H Q V | S p.940
. . . . . . g.86835
AAGCTGTGTGGGAAGTGCAGCCCCACTGACGTGGACATCCTGCAGCCCTCCTTCAACTTC c.2880
K L C G K C S P T D V D I L Q P S F N F p.960
. . . . | 24 . . g.87185
CTGTATTGGAGCCTTCATCAGACCACACCCAGCAGTCAGAAAAGAG | CTGCTGCAGTGCTC c.2940
L Y W S L H Q T T P S S Q K R A | A A V L p.980
. . . . . . g.87245
CTGAGCAGCACAGGCCTGATGGAGCTTCTGGAGAAGATGCTGGCCCTCACCTTGGCAAAG c.3000
L S S T G L M E L L E K M L A L T L A K p.1000
. . . . . . g.87305
GCAGATTCTCCCAGGACTGCACTCCTCTGCTCTGCCTGGCTGCTCACTGCCTCCTTCTCT c.3060
A D S P R T A L L C S A W L L T A S F S p.1020
. . | 25. . . . g.89858
GCCCAGCAGCACAAGGGCAGTTTGCAG | GTTCACCAGACACTCTCTGTGGAAATGGACCAA c.3120
A Q Q H K G S L Q | V H Q T L S V E M D Q p.1040
. . . . | 26 . g.90105
GTATTGAAGGCTCTCAGCTTTCCAAAGAAAAAGGCTGCACTACTCTCAG | CTGCCATCTTA c.3180
V L K A L S F P K K K A A L L S A | A I L p.1060
. . . . . . g.90165
TGCTTCCTGCGGACAGCCCTGCGACAAAGCTTTTCCTCTGCCCTGGTAGCCCTGGTGCCC c.3240
C F L R T A L R Q S F S S A L V A L V P p.1080
. . . . . . g.90225
TCAGGGGCCCAGCCACTGCCAGCCACCAAGGACACTGTCCTAGCTCCACTGCGAATGTCG c.3300
S G A Q P L P A T K D T V L A P L R M S p.1100
. . . . | 27 . . g.99330
CAAGTCCGGTCCCTGGTCATTGGGCTGCAGAACCTCCTGGTGCAG | AAGGACCCTCTATTG c.3360
Q V R S L V I G L Q N L L V Q | K D P L L p.1120
. . . . . . g.99390
TCCCAGGCCTGTGTTGGCTGCCTGGAGGCCTTGCTTGACTACCTGGATGCCCGGAGCCCA c.3420
S Q A C V G C L E A L L D Y L D A R S P p.1140
| 28. . . . . . g.99910
GACATTG | CTCTCCACGTGGCCTCCCAGCCTTGGAATCGGTTTTTGCTGTTTACCCTCTTG c.3480
D I A | L H V A S Q P W N R F L L F T L L p.1160
. . . . . | 29 . g.100903
GATGCTGGAGAGAATTCCTTCCTCAGACCTGAGATTTTGAGGCTCATGACCCTG | TTTATG c.3540
D A G E N S F L R P E I L R L M T L | F M p.1180
. . . . . . g.100963
CGGTACCGGAGTAGCAGTGTCCTCTCTCATGAAGAGGTGGGTGATGTTCTGCAAGGTGTG c.3600
R Y R S S S V L S H E E V G D V L Q G V p.1200
. . . . . . g.101023
GCTTTGGCTGACCTGTCTACCCTCTCGAACACCACACTCCAGGCCCTGCATGGCTTCTTC c.3660
A L A D L S T L S N T T L Q A L H G F F p.1220
| 30 . . . . . . g.101275
CAGCAG | CTCCAGAGCATGGGACACCTGGCTGACCACAGCATGGCCCAGACCCTGCAGGCC c.3720
Q Q | L Q S M G H L A D H S M A Q T L Q A p.1240
. . . . . | 31 g.104741
TCCTTGGAGGGCCTTCCCCCTAGCACCTCCTCAGGCCAGCCACCCCTGCAGGACATGCT | C c.3780
S L E G L P P S T S S G Q P P L Q D M L | p.1260
. . . . g.104786
TGCCTGGGAGGGGTGGCTGTATCCCTGTCCCACATCAGAAACTGA c.3825
C L G G V A V S L S H I R N X p.1274
. . . . . . g.104846
tcctcaggacttgaaggcccagaagtggagagagaatgagacctggagacaaagggcata c.*60
. . . . . . g.104906
attgttggggaaatggatgacagctgaagctattcatatggagccatatactctattgtt c.*120
. . . g.104942
gaaatagaataaggaaataaaatgatacactcacat c.*156
(downstream sequence)
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