(used for variant description)
(last modified June 20, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_006343.2 in the MERTK gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011607.1, covering MERTK transcript NM_006343.2.
(upstream sequence)
g.5002
ac c.-121
. . . . . . g.5062
tcactgcccgggccgcccggacagggagcttcgctggcgcgcttggccggcgacaggaca c.-61
. . . . . . g.5122
ggttcgggacgtccatctgtccatccgtccggagagaaattacagatccgcagccccggg c.-1
. . . . . . g.5182
ATGGGGCCGGCCCCGCTGCCGCTGCTGCTGGGCCTCTTCCTCCCCGCGCTCTGGCGTAGA c.60
M G P A P L P L L L G L F L P A L W R R p.20
| 02 . . . . . . g.35565
G | CTATCACTGAGGCAAGGGAAGAAGCCAAGCCTTACCCGCTATTCCCGGGACCTTTTCCA c.120
A | I T E A R E E A K P Y P L F P G P F P p.40
. . . . . . g.35625
GGGAGCCTGCAAACTGACCACACACCGCTGTTATCCCTTCCTCACGCCAGTGGGTACCAG c.180
G S L Q T D H T P L L S L P H A S G Y Q p.60
. . . . . . g.35685
CCTGCCTTGATGTTTTCACCAACCCAGCCTGGAAGACCACATACAGGAAACGTAGCCATT c.240
P A L M F S P T Q P G R P H T G N V A I p.80
. . . . . . g.35745
CCCCAGGTGACCTCTGTCGAATCAAAGCCCCTACCGCCTCTTGCCTTCAAACACACAGTT c.300
P Q V T S V E S K P L P P L A F K H T V p.100
. . . . . . g.35805
GGACACATAATACTTTCTGAACATAAAGGTGTCAAATTTAATTGCTCAATCAGTGTACCT c.360
G H I I L S E H K G V K F N C S I S V P p.120
. . . . . . g.35865
AATATATACCAGGACACCACAATTTCTTGGTGGAAAGATGGGAAGGAATTGCTTGGGGCA c.420
N I Y Q D T T I S W W K D G K E L L G A p.140
. . . . . . g.35925
CATCATGCAATTACACAGTTTTATCCAGATGATGAAGTTACAGCAATAATCGCTTCCTTC c.480
H H A I T Q F Y P D D E V T A I I A S F p.160
| 03 . . . . . . g.51404
AG | CATAACCAGTGTGCAGCGTTCAGACAATGGGTCGTATATCTGTAAGATGAAAATAAAC c.540
S | I T S V Q R S D N G S Y I C K M K I N p.180
. . . . | 04 . . g.53797
AATGAAGAGATCGTGTCTGATCCCATCTACATCGAAGTACAAG | GACTTCCTCACTTTACT c.600
N E E I V S D P I Y I E V Q G | L P H F T p.200
. . . . . . g.53857
AAGCAGCCTGAGAGCATGAATGTCACCAGAAACACAGCCTTCAACCTCACCTGTCAGGCT c.660
K Q P E S M N V T R N T A F N L T C Q A p.220
. . . . . . g.53917
GTGGGCCCGCCTGAGCCCGTCAACATTTTCTGGGTTCAAAACAGTAGCCGTGTTAACGAA c.720
V G P P E P V N I F W V Q N S S R V N E p.240
. . . | 05. . . g.71600
CAGCCTGAAAAATCCCCCTCCGTGCTAACTGTTCCAG | GCCTGACGGAGATGGCGGTCTTC c.780
Q P E K S P S V L T V P G | L T E M A V F p.260
. . . . . . g.71660
AGTTGTGAGGCCCACAATGACAAAGGGCTGACCGTGTCCAAGGGAGTGCAGATCAACATC c.840
S C E A H N D K G L T V S K G V Q I N I p.280
| 06 . . . . . . g.74579
AAAG | CAATTCCCTCCCCACCAACTGAAGTCAGCATCCGTAACAGCACTGCACACAGCATT c.900
K A | I P S P P T E V S I R N S T A H S I p.300
. . . . . . g.74639
CTGATCTCCTGGGTTCCTGGTTTTGATGGATACTCCCCGTTCAGGAATTGCAGCATTCAG c.960
L I S W V P G F D G Y S P F R N C S I Q p.320
| 07 . . . . . . g.81735
| GTCAAGGAAGCTGATCCGCTGAGTAATGGCTCAGTCATGATTTTTAACACCTCTGCCTTA c.1020
| V K E A D P L S N G S V M I F N T S A L p.340
. . . . . . g.81795
CCACATCTGTACCAAATCAAGCAGCTGCAAGCCCTGGCTAATTACAGCATTGGTGTTTCC c.1080
P H L Y Q I K Q L Q A L A N Y S I G V S p.360
. . . . . . g.81855
TGCATGAATGAAATAGGCTGGTCTGCAGTGAGCCCTTGGATTCTAGCCAGCACGACTGAA c.1140
C M N E I G W S A V S P W I L A S T T E p.380
| 08 . . . . . . g.89284
GGAG | CCCCATCAGTAGCACCTTTAAATGTCACTGTGTTTCTGAATGAATCTAGTGATAAT c.1200
G A | P S V A P L N V T V F L N E S S D N p.400
. . . . . . g.89344
GTGGACATCAGATGGATGAAGCCTCCGACTAAGCAGCAGGATGGAGAACTGGTGGGCTAC c.1260
V D I R W M K P P T K Q Q D G E L V G Y p.420
. . . | 09 . . . g.100661
CGGATATCCCACGTGTGGCAGAGTGCAGGGATTTCC | AAAGAGCTCTTGGAGGAAGTTGGC c.1320
R I S H V W Q S A G I S | K E L L E E V G p.440
. . . . . . g.100721
CAGAATGGCAGCCGAGCTCGGATCTCTGTTCAAGTCCACAATGCTACGTGCACAGTGAGG c.1380
Q N G S R A R I S V Q V H N A T C T V R p.460
. . . . . . g.100781
ATTGCAGCCGTCACCAGAGGGGGAGTTGGGCCCTTCAGTGATCCAGTGAAAATATTTATC c.1440
I A A V T R G G V G P F S D P V K I F I p.480
. | 10 . . . . . g.103759
CCTGCACACG | GTTGGGTAGATTATGCCCCCTCTTCAACTCCGGCGCCTGGCAACGCAGAT c.1500
P A H G | W V D Y A P S S T P A P G N A D p.500
. . . . . . g.103819
CCTGTGCTCATCATCTTTGGCTGCTTTTGTGGATTTATTTTGATTGGGTTGATTTTATAC c.1560
P V L I I F G C F C G F I L I G L I L Y p.520
. . . . | 11 . . g.107603
ATCTCCTTGGCCATCAGAAAAAGAGTCCAGGAGACAAAGTTTGG | GAATGCATTCACAGAG c.1620
I S L A I R K R V Q E T K F G | N A F T E p.540
. . . . . . g.107663
GAGGATTCTGAATTAGTGGTGAATTATATAGCAAAGAAATCCTTCTGTCGGCGAGCCATT c.1680
E D S E L V V N Y I A K K S F C R R A I p.560
. | 12 . . . . . g.109528
GAACTTACCT | TACATAGCTTGGGAGTCAGTGAGGAACTACAAAATAAACTAGAAGATGTT c.1740
E L T L | H S L G V S E E L Q N K L E D V p.580
. . . . | 13 . . g.110304
GTGATTGACAGGAATCTTCTAATTCTTGGAAAAATTCTGGGTGAAG | GAGAGTTTGGGTCT c.1800
V I D R N L L I L G K I L G E G | E F G S p.600
. . . . . . g.110364
GTAATGGAAGGAAATCTTAAGCAGGAAGATGGGACCTCTCTGAAAGTGGCAGTGAAGACC c.1860
V M E G N L K Q E D G T S L K V A V K T p.620
| 14. . . . . . g.114822
ATGAAGT | TGGACAACTCTTCACAGCGGGAGATCGAGGAGTTTCTCAGTGAGGCAGCGTGC c.1920
M K L | D N S S Q R E I E E F L S E A A C p.640
. . . . | 15 . . g.116354
ATGAAAGACTTCAGCCACCCAAATGTCATTCGACTTCTAG | GTGTGTGTATAGAAATGAGC c.1980
M K D F S H P N V I R L L G | V C I E M S p.660
. . . . . . g.116414
TCTCAAGGCATCCCAAAGCCCATGGTAATTTTACCCTTCATGAAATACGGGGACCTGCAT c.2040
S Q G I P K P M V I L P F M K Y G D L H p.680
. . . | 16 . . g.125820
ACTTACTTACTTTATTCCCGATTGGAGACAGGACCAAAG | CATATTCCTCTGCAGACACTA c.2100
T Y L L Y S R L E T G P K | H I P L Q T L p.700
. . . . . . g.125880
TTGAAGTTCATGGTGGATATTGCCCTGGGAATGGAGTATCTGAGCAACAGGAATTTTCTT c.2160
L K F M V D I A L G M E Y L S N R N F L p.720
. . | 17 . . . g.127839
CATCGAGATTTAGCTGCTCGAAACTGCAT | GTTGCGAGATGACATGACTGTCTGTGTTGCG c.2220
H R D L A A R N C M | L R D D M T V C V A p.740
. . . . . . g.127899
GACTTCGGCCTCTCTAAGAAGATTTACAGTGGCGATTATTACCGCCAAGGCCGCATTGCT c.2280
D F G L S K K I Y S G D Y Y R Q G R I A p.760
. . . . . . g.127959
AAGATGCCTGTTAAATGGATCGCCATAGAAAGTCTTGCAGACCGAGTCTACACAAGTAAA c.2340
K M P V K W I A I E S L A D R V Y T S K p.780
| 18 . . . . . g.128695
AGTGATGTG | TGGGCATTTGGCGTGACCATGTGGGAAATAGCTACGCGGGGAATGACTCCC c.2400
S D V | W A F G V T M W E I A T R G M T P p.800
. . . . . . g.128755
TATCCTGGGGTCCAGAACCATGAGATGTATGACTATCTTCTCCATGGCCACAGGTTGAAG c.2460
Y P G V Q N H E M Y D Y L L H G H R L K p.820
. . | 19 . . . . g.134771
CAGCCCGAAGACTGCCTGGATGAACT | GTATGAAATAATGTACTCTTGCTGGAGAACCGAT c.2520
Q P E D C L D E L | Y E I M Y S C W R T D p.840
. . . . . . g.134831
CCCTTAGACCGCCCCACCTTTTCAGTATTGAGGCTGCAGCTAGAAAAACTCTTAGAAAGT c.2580
P L D R P T F S V L R L Q L E K L L E S p.860
. . . . . . g.134891
TTGCCTGACGTTCGGAACCAAGCAGACGTTATTTACGTCAATACACAGTTGCTGGAGAGC c.2640
L P D V R N Q A D V I Y V N T Q L L E S p.880
. . . . . . g.134951
TCTGAGGGCCTGGCCCAGGGCTCCACCCTTGCTCCACTGGACTTGAACATCGACCCTGAC c.2700
S E G L A Q G S T L A P L D L N I D P D p.900
. . . . . . g.135011
TCTATAATTGCCTCCTGCACTCCCCGCGCTGCCATCAGTGTGGTCACAGCAGAAGTTCAT c.2760
S I I A S C T P R A A I S V V T A E V H p.920
. . . . . . g.135071
GACAGCAAACCTCATGAAGGACGGTACATCCTGAATGGGGGCAGTGAGGAATGGGAAGAT c.2820
D S K P H E G R Y I L N G G S E E W E D p.940
. . . . . . g.135131
CTGACTTCTGCCCCCTCTGCTGCAGTCACAGCTGAAAAGAACAGTGTTTTACCGGGGGAG c.2880
L T S A P S A A V T A E K N S V L P G E p.960
. . . . . . g.135191
AGACTTGTTAGGAATGGGGTCTCCTGGTCCCATTCGAGCATGCTGCCCTTGGGAAGCTCA c.2940
R L V R N G V S W S H S S M L P L G S S p.980
. . . . . . g.135251
TTGCCCGATGAACTTTTGTTTGCTGACGACTCCTCAGAAGGCTCAGAAGTCCTGATGTGA c.3000
L P D E L L F A D D S S E G S E V L M X p.999
. . . . . . g.135311
ggagaggtgcggggagacattccaaaaatcaagccaattcttctgctgtaggagaatcca c.*60
. . . . . . g.135371
attgtacctgatgtttttggtatttgtcttccttaccaagtgaactccatggccccaaag c.*120
. . . . . . g.135431
caccagatgaatgttgttaagtaagctgtcattaaaaatacataatatatatttatttaa c.*180
. . . . . . g.135491
agagaaaaaatatgtgtatatcatggaaaaagacaaggatattttaataaaacattactt c.*240
. . . . . . g.135551
atttcatttcacttatcttgcatatcttaaaattaagcttcagctgctccttgatattaa c.*300
. . . . . . g.135611
catttgtacagagttgaagttgttttttcaagttcttttctttttcatgactattaaatg c.*360
. . . . . . g.135671
taaaaatatttgtaaaatgaaatgccatatttgacttggcttctggtcttgatgtatttg c.*420
. . . . . . g.135731
ataagaatgattcattcaatgtttaaagttgtataactgattaattttctgatatggctt c.*480
. . g.135755
cctaataaaatatgaataaggaag c.*504
(downstream sequence)
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