(used for variant description)
(last modified May 19, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001127500.1 in the MET gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008996.1, covering MET transcript NM_001127500.1.
(upstream sequence)
g.5007
gccctcg c.-181
. . . . . . g.5067
ccgcccgcggcgccccgagcgctttgtgagcagatgcggagccgagtggagggcgcgagc c.-121
. . . . . . g.5127
cagatgcggggcgacagctgacttgctgagaggaggcggggaggcgcggagcgcgcgtgt c.-61
. . . . . | 02 . g.31680
ggtccttgcgccgctgacttctccactggttcctgggcaccgaaag | ataaacctctcata c.-1
. . . . . . g.31740
ATGAAGGCCCCCGCTGTGCTTGCACCTGGCATCCTCGTGCTCCTGTTTACCTTGGTGCAG c.60
M K A P A V L A P G I L V L L F T L V Q p.20
. . . . . . g.31800
AGGAGCAATGGGGAGTGTAAAGAGGCACTAGCAAAGTCCGAGATGAATGTGAATATGAAG c.120
R S N G E C K E A L A K S E M N V N M K p.40
. . . . . . g.31860
TATCAGCTTCCCAACTTCACCGCGGAAACACCCATCCAGAATGTCATTCTACATGAGCAT c.180
Y Q L P N F T A E T P I Q N V I L H E H p.60
. . . . . . g.31920
CACATTTTCCTTGGTGCCACTAACTACATTTATGTTTTAAATGAGGAAGACCTTCAGAAG c.240
H I F L G A T N Y I Y V L N E E D L Q K p.80
. . . . . . g.31980
GTTGCTGAGTACAAGACTGGGCCTGTGCTGGAACACCCAGATTGTTTCCCATGTCAGGAC c.300
V A E Y K T G P V L E H P D C F P C Q D p.100
. . . . . . g.32040
TGCAGCAGCAAAGCCAATTTATCAGGAGGTGTTTGGAAAGATAACATCAACATGGCTCTA c.360
C S S K A N L S G G V W K D N I N M A L p.120
. . . . . . g.32100
GTTGTCGACACCTACTATGATGATCAACTCATTAGCTGTGGCAGCGTCAACAGAGGGACC c.420
V V D T Y Y D D Q L I S C G S V N R G T p.140
. . . . . . g.32160
TGCCAGCGACATGTCTTTCCCCACAATCATACTGCTGACATACAGTCGGAGGTTCACTGC c.480
C Q R H V F P H N H T A D I Q S E V H C p.160
. . . . . . g.32220
ATATTCTCCCCACAGATAGAAGAGCCCAGCCAGTGTCCTGACTGTGTGGTGAGCGCCCTG c.540
I F S P Q I E E P S Q C P D C V V S A L p.180
. . . . . . g.32280
GGAGCCAAAGTCCTTTCATCTGTAAAGGACCGGTTCATCAACTTCTTTGTAGGCAATACC c.600
G A K V L S S V K D R F I N F F V G N T p.200
. . . . . . g.32340
ATAAATTCTTCTTATTTCCCAGATCATCCATTGCATTCGATATCAGTGAGAAGGCTAAAG c.660
I N S S Y F P D H P L H S I S V R R L K p.220
. . . . . . g.32400
GAAACGAAAGATGGTTTTATGTTTTTGACGGACCAGTCCTACATTGATGTTTTACCTGAG c.720
E T K D G F M F L T D Q S Y I D V L P E p.240
. . . . . . g.32460
TTCAGAGATTCTTACCCCATTAAGTATGTCCATGCCTTTGAAAGCAACAATTTTATTTAC c.780
F R D S Y P I K Y V H A F E S N N F I Y p.260
. . . . . . g.32520
TTCTTGACGGTCCAAAGGGAAACTCTAGATGCTCAGACTTTTCACACAAGAATAATCAGG c.840
F L T V Q R E T L D A Q T F H T R I I R p.280
. . . . . . g.32580
TTCTGTTCCATAAACTCTGGATTGCATTCCTACATGGAAATGCCTCTGGAGTGTATTCTC c.900
F C S I N S G L H S Y M E M P L E C I L p.300
. . . . . . g.32640
ACAGAAAAGAGAAAAAAGAGATCCACAAAGAAGGAAGTGTTTAATATACTTCAGGCTGCG c.960
T E K R K K R S T K K E V F N I L Q A A p.320
. . . . . . g.32700
TATGTCAGCAAGCCTGGGGCCCAGCTTGCTAGACAAATAGGAGCCAGCCTGAATGATGAC c.1020
Y V S K P G A Q L A R Q I G A S L N D D p.340
. . . . . . g.32760
ATTCTTTTCGGGGTGTTCGCACAAAGCAAGCCAGATTCTGCCGAACCAATGGATCGATCT c.1080
I L F G V F A Q S K P D S A E P M D R S p.360
. . . . . . g.32820
GCCATGTGTGCATTCCCTATCAAATATGTCAACGACTTCTTCAACAAGATCGTCAACAAA c.1140
A M C A F P I K Y V N D F F N K I V N K p.380
. . . . . . g.32880
AACAATGTGAGATGTCTCCAGCATTTTTACGGACCCAATCATGAGCACTGCTTTAATAGG c.1200
N N V R C L Q H F Y G P N H E H C F N R p.400
| 03 . . . . . . g.64323
| ACACTTCTGAGAAATTCATCAGGCTGTGAAGCGCGCCGTGATGAATATCGAACAGAGTTT c.1260
| T L L R N S S G C E A R R D E Y R T E F p.420
. . . . . . g.64383
ACCACAGCTTTGCAGCGCGTTGACTTATTCATGGGTCAATTCAGCGAAGTCCTCTTAACA c.1320
T T A L Q R V D L F M G Q F S E V L L T p.440
. . . . . . g.64443
TCTATATCCACCTTCATTAAAGGAGACCTCACCATAGCTAATCTTGGGACATCAGAGGGT c.1380
S I S T F I K G D L T I A N L G T S E G p.460
. | 04 . . . . . g.72593
CGCTTCATGCAG | GTTGTGGTTTCTCGATCAGGACCATCAACCCCTCATGTGAATTTTCTC c.1440
R F M Q | V V V S R S G P S T P H V N F L p.480
. . . . . . g.72653
CTGGACTCCCATCCAGTGTCTCCAGAAGTGATTGTGGAGCATACATTAAACCAAAATGGC c.1500
L D S H P V S P E V I V E H T L N Q N G p.500
. . | 05. . . . g.73480
TACACACTGGTTATCACTGGGAAGAAG | ATCACGAAGATCCCATTGAATGGCTTGGGCTGC c.1560
Y T L V I T G K K | I T K I P L N G L G C p.520
. . . . . . g.73540
AGACATTTCCAGTCCTGCAGTCAATGCCTCTCTGCCCCACCCTTTGTTCAGTGTGGCTGG c.1620
R H F Q S C S Q C L S A P P F V Q C G W p.540
. . . . . . g.73600
TGCCACGACAAATGTGTGCGATCGGAGGAATGCCTGAGCGGGACATGGACTCAACAGATC c.1680
C H D K C V R S E E C L S G T W T Q Q I p.560
. . | 06 . . . . g.87989
TGTCTGCCTGCAATCTACAAG | GTTTTCCCAAATAGTGCACCCCTTGAAGGAGGGACAAGG c.1740
C L P A I Y K | V F P N S A P L E G G T R p.580
. . . . . . g.88049
CTGACCATATGTGGCTGGGACTTTGGATTTCGGAGGAATAATAAATTTGATTTAAAGAAA c.1800
L T I C G W D F G F R R N N K F D L K K p.600
. . . . . . g.88109
ACTAGAGTTCTCCTTGGAAATGAGAGCTGCACCTTGACTTTAAGTGAGAGCACGATGAAT c.1860
T R V L L G N E S C T L T L S E S T M N p.620
| 07 . . . . . . g.90090
AC | ATTGAAATGCACAGTTGGTCCTGCCATGAATAAGCATTTCAATATGTCCATAATTATT c.1920
T | L K C T V G P A M N K H F N M S I I I p.640
. . . . | 08 . . g.90248
TCAAATGGCCACGGGACAACACAATACAGTACATTCTCCTATGTG | GATCCTGTAATAACA c.1980
S N G H G T T Q Y S T F S Y V | D P V I T p.660
. . . . . . g.90308
AGTATTTCGCCGAAATACGGTCCTATGGCTGGTGGCACTTTACTTACTTTAACTGGAAAT c.2040
S I S P K Y G P M A G G T L L T L T G N p.680
. . . . . . g.90368
TACCTAAACAGTGGGAATTCTAGACACATTTCAATTGGTGGAAAAACATGTACTTTAAAA c.2100
Y L N S G N S R H I S I G G K T C T L K p.700
| 09 . . . . . . g.91112
AG | TGTGTCAAACAGTATTCTTGAATGTTATACCCCAGCCCAAACCATTTCAACTGAGTTT c.2160
S | V S N S I L E C Y T P A Q T I S T E F p.720
. . . . . . g.91172
GCTGTTAAATTGAAAATTGACTTAGCCAACCGAGAGACAAGCATCTTCAGTTACCGTGAA c.2220
A V K L K I D L A N R E T S I F S Y R E p.740
. . . . | 10 . . g.91948
GATCCCATTGTCTATGAAATTCATCCAACCAAATCTTTTATTAG | TACTTGGTGGAAAGAA c.2280
D P I V Y E I H P T K S F I S | T W W K E p.760
. . . . . . g.92008
CCTCTCAACATTGTCAGTTTTCTATTTTGCTTTGCCAGTGGTGGGAGCACAATAACAGGT c.2340
P L N I V S F L F C F A S G G S T I T G p.780
. . . . . . g.92068
GTTGGGAAAAACCTGAATTCAGTTAGTGTCCCGAGAATGGTCATAAATGTGCATGAAGCA c.2400
V G K N L N S V S V P R M V I N V H E A p.800
. | 11 . . . . g.95687
GGAAGGAACTTTACAGTG | GCATGTCAACATCGCTCTAATTCAGAGATAATCTGTTGTACC c.2460
G R N F T V | A C Q H R S N S E I I C C T p.820
. . . . . . g.95747
ACTCCTTCCCTGCAACAGCTGAATCTGCAACTCCCCCTGAAAACCAAAGCCTTTTTCATG c.2520
T P S L Q Q L N L Q L P L K T K A F F M p.840
. . . . . . g.95807
TTAGATGGGATCCTTTCCAAATACTTTGATCTCATTTATGTACATAATCCTGTGTTTAAG c.2580
L D G I L S K Y F D L I Y V H N P V F K p.860
. . . . . | 12. g.102243
CCTTTTGAAAAGCCAGTGATGATCTCAATGGGCAATGAAAATGTACTGGAAATTAAG | GGA c.2640
P F E K P V M I S M G N E N V L E I K | G p.880
. . . . . . g.102303
AATGATATTGACCCTGAAGCAGTTAAAGGTGAAGTGTTAAAAGTTGGAAATAAGAGCTGT c.2700
N D I D P E A V K G E V L K V G N K S C p.900
. . . . . . g.102363
GAGAATATACACTTACATTCTGAAGCCGTTTTATGCACGGTCCCCAATGACCTGCTGAAA c.2760
E N I H L H S E A V L C T V P N D L L K p.920
. . | 13 . . . . g.104129
TTGAACAGCGAGCTAAATATAGAG | TGGAAGCAAGCAATTTCTTCAACCGTCCTTGGAAAA c.2820
L N S E L N I E | W K Q A I S S T V L G K p.940
. . . . . . g.104189
GTAATAGTTCAACCAGATCAGAATTTCACAGGATTGATTGCTGGTGTTGTCTCAATATCA c.2880
V I V Q P D Q N F T G L I A G V V S I S p.960
. . . . . . g.104249
ACAGCACTGTTATTACTACTTGGGTTTTTCCTGTGGCTGAAAAAGAGAAAGCAAATTAAA c.2940
T A L L L L L G F F L W L K K R K Q I K p.980
| 14 . . . . . . g.104503
G | ATCTGGGCAGTGAATTAGTTCGCTACGATGCAAGAGTACACACTCCTCATTTGGATAGG c.3000
D | L G S E L V R Y D A R V H T P H L D R p.1000
. . . . . . g.104563
CTTGTAAGTGCCCGAAGTGTAAGCCCAACTACAGAAATGGTTTCAAATGAATCTGTAGAC c.3060
L V S A R S V S P T T E M V S N E S V D p.1020
. . | 15 . . . . g.107514
TACCGAGCTACTTTTCCAGAAG | ATCAGTTTCCTAATTCATCTCAGAACGGTTCATGCCGA c.3120
Y R A T F P E D | Q F P N S S Q N G S C R p.1040
. . . . . . g.107574
CAAGTGCAGTATCCTCTGACAGACATGTCCCCCATCCTAACTAGTGGGGACTCTGATATA c.3180
Q V Q Y P L T D M S P I L T S G D S D I p.1060
. . . . . . g.107634
TCCAGTCCATTACTGCAAAATACTGTCCACATTGACCTCAGTGCTCTAAATCCAGAGCTG c.3240
S S P L L Q N T V H I D L S A L N P E L p.1080
. . . . . . g.107694
GTCCAGGCAGTGCAGCATGTAGTGATTGGGCCCAGTAGCCTGATTGTGCATTTCAATGAA c.3300
V Q A V Q H V V I G P S S L I V H F N E p.1100
. | 16 . . . . . g.110031
GTCATAGGAAGAG | GGCATTTTGGTTGTGTATATCATGGGACTTTGTTGGACAATGATGGC c.3360
V I G R G | H F G C V Y H G T L L D N D G p.1120
. . . | 17 . . . g.111397
AAGAAAATTCACTGTGCTGTGAAATCCTTGAACA | GAATCACTGACATAGGAGAAGTTTCC c.3420
K K I H C A V K S L N R | I T D I G E V S p.1140
. . . . . . g.111457
CAATTTCTGACCGAGGGAATCATCATGAAAGATTTTAGTCATCCCAATGTCCTCTCGCTC c.3480
Q F L T E G I I M K D F S H P N V L S L p.1160
. . . . . . g.111517
CTGGGAATCTGCCTGCGAAGTGAAGGGTCTCCGCTGGTGGTCCTACCATACATGAAACAT c.3540
L G I C L R S E G S P L V V L P Y M K H p.1180
. . . | 18 . . . g.114607
GGAGATCTTCGAAATTTCATTCGAAATGAGACTCAT | AATCCAACTGTAAAAGATCTTATT c.3600
G D L R N F I R N E T H | N P T V K D L I p.1200
. . . . . . g.114667
GGCTTTGGTCTTCAAGTAGCCAAAGGCATGAAATATCTTGCAAGCAAAAAGTTTGTCCAC c.3660
G F G L Q V A K G M K Y L A S K K F V H p.1220
. . | 19 . . . . g.115933
AGAGACTTGGCTGCAAGAAACTGTAT | GCTGGATGAAAAATTCACAGTCAAGGTTGCTGAT c.3720
R D L A A R N C M | L D E K F T V K V A D p.1240
. . . . . . g.115993
TTTGGTCTTGCCAGAGACATGTATGATAAAGAATACTATAGTGTACACAACAAAACAGGT c.3780
F G L A R D M Y D K E Y Y S V H N K T G p.1260
. . . . . . g.116053
GCAAAGCTGCCAGTGAAGTGGATGGCTTTGGAAAGTCTGCAAACTCAAAAGTTTACCACC c.3840
A K L P V K W M A L E S L Q T Q K F T T p.1280
. | 20 . . . . . g.128298
AAGTCAGATGTG | TGGTCCTTTGGCGTGCTCCTCTGGGAGCTGATGACAAGAGGAGCCCCA c.3900
K S D V | W S F G V L L W E L M T R G A P p.1300
. . . . . . g.128358
CCTTATCCTGACGTAAACACCTTTGATATAACTGTTTACTTGTTGCAAGGGAGAAGACTC c.3960
P Y P D V N T F D I T V Y L L Q G R R L p.1320
. . | 21 . . . g.128513
CTACAACCCGAATACTGCCCAGACCCCTT | ATATGAAGTAATGCTAAAATGCTGGCACCCT c.4020
L Q P E Y C P D P L | Y E V M L K C W H P p.1340
. . . . . . g.128573
AAAGCCGAAATGCGCCCATCCTTTTCTGAACTGGTGTCCCGGATATCAGCGATCTTCTCT c.4080
K A E M R P S F S E L V S R I S A I F S p.1360
. . . . . . g.128633
ACTTTCATTGGGGAGCACTATGTCCATGTGAACGCTACTTATGTGAACGTAAAATGTGTC c.4140
T F I G E H Y V H V N A T Y V N V K C V p.1380
. . . . . . g.128693
GCTCCGTATCCTTCTCTGTTGTCATCAGAAGATAACGCTGATGATGAGGTGGACACACGA c.4200
A P Y P S L L S S E D N A D D E V D T R p.1400
. . g.128720
CCAGCCTCCTTCTGGGAGACATCATAG c.4227
P A S F W E T S X p.1408
. . . . . . g.128780
tgctagtactatgtcaaagcaacagtccacactttgtccaatggttttttcactgcctga c.*60
. . . . . . g.128840
cctttaaaaggccatcgatattctttgctcttgccaaaattgcactattataggacttgt c.*120
. . . . . . g.128900
attgttatttaaattactggattctaaggaatttcttatctgacagagcatcagaaccag c.*180
. . . . . . g.128960
aggcttggtcccacaggccacggaccaatggcctgcagccgtgacaacactcctgtcata c.*240
. . . . . . g.129020
ttggagtccaaaacttgaattctgggttgaattttttaaaaatcaggtaccacttgattt c.*300
. . . . . . g.129080
catatgggaaattgaagcaggaaatattgagggcttcttgatcacagaaaactcagaaga c.*360
. . . . . . g.129140
gatagtaatgctcaggacaggagcggcagccccagaacaggccactcatttagaattcta c.*420
. . . . . . g.129200
gtgtttcaaaacacttttgtgtgttgtatggtcaataacatttttcattactgatggtgt c.*480
. . . . . . g.129260
cattcacccattaggtaaacattcccttttaaatgtttgtttgttttttgagacaggatc c.*540
. . . . . . g.129320
tcactctgttgccagggctgtagtgcagtggtgtgatcatagctcactgcaacctccacc c.*600
. . . . . . g.129380
tcccaggctcaagcctcccgaatagctgggactacaggcgcacaccaccatccccggcta c.*660
. . . . . . g.129440
atttttgtattttttgtagagacggggttttgccatgttgccaaggctggtttcaaactc c.*720
. . . . . . g.129500
ctggactcaagaaatccacccacctcagcctcccaaagtgctaggattacaggcatgagc c.*780
. . . . . . g.129560
cactgcgcccagcccttataaatttttgtatagacattcctttggttggaagaatattta c.*840
. . . . . . g.129620
taggcaatacagtcaaagtttcaaaatagcatcacacaaaacatgtttataaatgaacag c.*900
. . . . . . g.129680
gatgtaatgtacatagatgacattaagaaaatttgtatgaaataatttagtcatcatgaa c.*960
. . . . . . g.129740
atatttagttgtcatataaaaacccactgtttgagaatgatgctactctgatctaatgaa c.*1020
. . . . . . g.129800
tgtgaacatgtagatgttttgtgtgtatttttttaaatgaaaactcaaaataagacaagt c.*1080
. . . . . . g.129860
aatttgttgataaatatttttaaagataactcagcatgtttgtaaagcaggatacatttt c.*1140
. . . . . . g.129920
actaaaaggttcattggttccaatcacagctcataggtagagcaaagaaagggtggatgg c.*1200
. . . . . . g.129980
attgaaaagattagcctctgtctcggtggcaggttcccacctcgcaagcaattggaaaca c.*1260
. . . . . . g.130040
aaacttttggggagttttattttgcattagggtgtgttttatgttaagcaaaacatactt c.*1320
. . . . . . g.130100
tagaaacaaatgaaaaaggcaattgaaaatcccagctatttcacctagatggaatagcca c.*1380
. . . . . . g.130160
ccctgagcagaactttgtgatgcttcattctgtggaattttgtgcttgctactgtatagt c.*1440
. . . . . . g.130220
gcatgtggtgtaggttactctaactggttttgtcgacgtaaacatttaaagtgttatatt c.*1500
. . . . . . g.130280
ttttataaaaatgtttatttttaatgatatgagaaaaattttgttaggccacaaaaacac c.*1560
. . . . . . g.130340
tgcactgtgaacattttagaaaaggtatgtcagactgggattaatgacagcatgattttc c.*1620
. . . . . . g.130400
aatgactgtaaattgcgataaggaaatgtactgattgccaatacaccccaccctcattac c.*1680
. . . . . . g.130460
atcatcaggacttgaagccaagggttaacccagcaagctacaaagagggtgtgtcacact c.*1740
. . . . . . g.130520
gaaactcaatagttgagtttggctgttgttgcaggaaaatgattataactaaaagctctc c.*1800
. . . . . . g.130580
tgatagtgcagagacttaccagaagacacaaggaattgtactgaagagctattacaatcc c.*1860
. . . . . . g.130640
aaatattgccgtttcataaatgtaataagtaatactaattcacagagtattgtaaatggt c.*1920
. . . . . . g.130700
ggatgacaaaagaaaatctgctctgtggaaagaaagaactgtctctaccagggtcaagag c.*1980
. . . . . . g.130760
catgaacgcatcaatagaaagaactcggggaaacatcccatcaacaggactacacacttg c.*2040
. . . . . . g.130820
tatatacattcttgagaacactgcaatgtgaaaatcacgtttgctatttataaacttgtc c.*2100
. . . . . . g.130880
cttagattaatgtgtctggacagattgtgggagtaagtgattcttctaagaattagatac c.*2160
. . . . . . g.130940
ttgtcactgcctatacctgcagctgaactgaatggtacttcgtatgttaatagttgttct c.*2220
. . . . g.130982
gataaatcatgcaattaaagtaaagtgatgcaacatcttgta c.*2262
(downstream sequence)
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