(used for variant description)
(last modified February 28, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_002420.5 in the TRPM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016453.1, covering TRPM1 transcript NM_002420.5.
(upstream sequence)
. g.5008
tccctgccctggc c.-121
. . . . . . | 02 g.29740
caaggaggaggctgaaagagcctgagctgtgccctctccattccactgctgtggcag | ggt c.-61
. . . . . . g.29800
cagaaatcttggatagagaaaaccttttgcaaacgggaatgtatctttgtaattcctagc c.-1
. | 03. . . . . g.36538
ATGAAAGACTCTAACAG | GTGTTGCTGTGGCCAGTTCACCAACCAGCATATCCCCCCTCTG c.60
M K D S N R | C C C G Q F T N Q H I P P L p.20
. . . . . . g.36598
CCAAGTGCAACACCCAGCAAAAATGAAGAGGAAAGCAAACAGGTGGAGACTCAGCCTGAG c.120
P S A T P S K N E E E S K Q V E T Q P E p.40
. . . . . . g.36658
AAATGGTCTGTTGCCAAGCACACCCAGAGCTACCCAACAGATTCCTATGGAGTTCTTGAA c.180
K W S V A K H T Q S Y P T D S Y G V L E p.60
. . . | 04 . . . g.38656
TTCCAGGGTGGCGGATATTCCAATAAAGCCATG | TATATCCGTGTATCCTATGACACCAAG c.240
F Q G G G Y S N K A M | Y I R V S Y D T K p.80
. . . . . . g.38716
CCAGACTCACTGCTCCATCTCATGGTGAAAGATTGGCAGCTGGAACTCCCCAAGCTCTTA c.300
P D S L L H L M V K D W Q L E L P K L L p.100
. . . . . . g.38776
ATATCTGTGCATGGAGGCCTCCAGAACTTTGAGATGCAGCCCAAGCTGAAACAAGTCTTT c.360
I S V H G G L Q N F E M Q P K L K Q V F p.120
. . . . . . g.38836
GGGAAAGGCCTGATCAAGGCTGCTATGACCACCGGGGCCTGGATCTTCACCGGGGGTGTC c.420
G K G L I K A A M T T G A W I F T G G V p.140
| 05. . . . . . g.39587
AGCACAG | GTGTTATCAGCCACGTAGGGGATGCCTTGAAAGACCACTCCTCCAAGTCCAGA c.480
S T G | V I S H V G D A L K D H S S K S R p.160
. . . . . . g.39647
GGCCGGGTTTGTGCTATAGGAATTGCTCCATGGGGCATCGTGGAGAATAAGGAAGACCTG c.540
G R V C A I G I A P W G I V E N K E D L p.180
. | 06 . . . . . g.40522
GTTGGAAAGGAT | GTAACAAGAGTGTACCAGACCATGTCCAACCCTCTAAGTAAGCTCTCT c.600
V G K D | V T R V Y Q T M S N P L S K L S p.200
. . . . . . g.40582
GTGCTCAACAACTCCCACACCCACTTCATCCTGGCTGACAATGGCACCCTGGGCAAGTAT c.660
V L N N S H T H F I L A D N G T L G K Y p.220
. . . . . . g.40642
GGCGCCGAGGTGAAGCTGCGAAGGCTGCTGGAAAAGCACATCTCCCTGCAGAAGATCAAC c.720
G A E V K L R R L L E K H I S L Q K I N p.240
| 07 . . . . . . g.43485
ACAA | GACTGGGGCAGGGCGTGCCCCTCGTGGGTCTCGTGGTGGAGGGGGGCCCTAACGTG c.780
T R | L G Q G V P L V G L V V E G G P N V p.260
. . . . . . g.43545
GTGTCCATCGTCTTGGAATACCTGCAAGAAGAGCCTCCCATCCCTGTGGTGATTTGTGAT c.840
V S I V L E Y L Q E E P P I P V V I C D p.280
. . . . . | 08 g.44020
GGCAGCGGACGTGCCTCGGACATCCTGTCCTTTGCGCACAAGTACTGTGAAGAAGGCGG | A c.900
G S G R A S D I L S F A H K Y C E E G G | p.300
. . . . . . g.44080
ATAATAAATGAGTCCCTCAGGGAGCAGCTTCTAGTTACCATTCAGAAAACATTTAATTAT c.960
I I N E S L R E Q L L V T I Q K T F N Y p.320
. . . . . . g.44140
AATAAGGCACAATCACATCAGCTGTTTGCAATTATAATGGAGTGCATGAAGAAGAAAGAA c.1020
N K A Q S H Q L F A I I M E C M K K K E p.340
| 09 . . . . . . g.45264
CTC | GTCACTGTGTTCAGAATGGGTTCTGAGGGCCAGCAGGACATCGAGATGGCAATTTTA c.1080
L | V T V F R M G S E G Q Q D I E M A I L p.360
. | 10 . . . . . g.46121
ACTGCCCTGCTGAAAG | GAACAAACGTATCTGCTCCAGATCAGCTGAGCTTGGCACTGGCT c.1140
T A L L K G | T N V S A P D Q L S L A L A p.380
. . . . . | 11. g.56142
TGGAACCGCGTGGACATAGCACGAAGCCAGATCTTTGTCTTTGGGCCCCACTGGCCG | CCC c.1200
W N R V D I A R S Q I F V F G P H W P | P p.400
. . . . . . g.56202
CTGGGAAGCCTGGCACCCCCGACGGACAGCAAAGCCACGGAGAAGGAGAAGAAGCCACCC c.1260
L G S L A P P T D S K A T E K E K K P P p.420
. . . . . . g.56262
ATGGCCACCACCAAGGGAGGAAGAGGAAAAGGGAAAGGCAAGAAGAAAGGGAAAGTGAAA c.1320
M A T T K G G R G K G K G K K K G K V K p.440
. . . . . | 12 . g.57221
GAGGAAGTGGAGGAAGAAACTGACCCCCGGAAGATAGAGCTGCTGAACTGG | GTGAATGCT c.1380
E E V E E E T D P R K I E L L N W | V N A p.460
. . . . . . g.57281
TTGGAGCAAGCGATGCTAGATGCTTTAGTCTTAGATCGTGTCGACTTTGTGAAGCTCCTG c.1440
L E Q A M L D A L V L D R V D F V K L L p.480
. . . . . . g.57341
ATTGAAAACGGAGTGAACATGCAACACTTTCTGACCATTCCGAGGCTGGAGGAGCTTTAT c.1500
I E N G V N M Q H F L T I P R L E E L Y p.500
| 13 . . . . . | 14. g.59473
AACACA | AGACTGGGTCCACCAAACACACTTCATCTGCTGGTGAGGGATGTGAAAAAG | AGC c.1560
N T | R L G P P N T L H L L V R D V K K | S p.520
. . . . . . g.59533
AACCTTCCGCCTGATTACCACATCAGCCTCATAGACATCGGGCTCGTGCTGGAGTACCTC c.1620
N L P P D Y H I S L I D I G L V L E Y L p.540
. . . . . . g.59593
ATGGGAGGAGCCTACCGCTGCAACTACACTCGGAAAAACTTTCGGACCCTTTACAACAAC c.1680
M G G A Y R C N Y T R K N F R T L Y N N p.560
. | 15 . . | 16 . g.64490
TTGTTTGGACCAAAGAGG | CCTAAAGCTCTTAAACTTCTGGGAATGGAA | GATGATGAGCCT c.1740
L F G P K R | P K A L K L L G M E | D D E P p.580
. . . . . . g.64550
CCAGCTAAAGGGAAGAAAAAGAAAAAGAAGAAAAAGGAGGAAGAGATCGACATTGATGTG c.1800
P A K G K K K K K K K K E E E I D I D V p.600
. . . . . . g.64610
GACGACCCTGCCGTGAGTCGGTTCCAGTATCCCTTCCACGAGCTGATGGTGTGGGCAGTG c.1860
D D P A V S R F Q Y P F H E L M V W A V p.620
. . . . . . g.64670
CTGATGAAACGCCAGAAAATGGCAGTGTTCCTCTGGCAGCGAGGGGAAGAGAGCATGGCC c.1920
L M K R Q K M A V F L W Q R G E E S M A p.640
. . . . . . g.64730
AAGGCCCTGGTGGCCTGCAAGCTCTACAAGGCCATGGCCCACGAGTCCTCCGAGAGTGAT c.1980
K A L V A C K L Y K A M A H E S S E S D p.660
. . . . | 17 . . g.66394
CTGGTGGATGACATCTCCCAGGACTTGGATAACAATTCCAA | AGACTTCGGCCAGCTTGCT c.2040
L V D D I S Q D L D N N S K | D F G Q L A p.680
. . . . . . g.66454
TTGGAGTTATTAGACCAGTCCTATAAGCATGACGAGCAGATCGCTATGAAACTCCTGACC c.2100
L E L L D Q S Y K H D E Q I A M K L L T p.700
. . . . . . g.66514
TACGAGCTGAAAAACTGGAGCAACTCGACCTGCCTCAAACTGGCCGTGGCAGCCAAACAC c.2160
Y E L K N W S N S T C L K L A V A A K H p.720
. . . . . . g.66574
CGGGACTTCATTGCTCACACCTGCAGCCAGATGCTGCTGACCGATATGTGGATGGGAAGA c.2220
R D F I A H T C S Q M L L T D M W M G R p.740
. . . | 18 . . . g.68585
CTGCGGATGCGGAAGAACCCCGGCCTGAAG | GTTATCATGGGGATTCTTCTACCCCCCACC c.2280
L R M R K N P G L K | V I M G I L L P P T p.760
. . . . . . g.68645
ATCTTGTTTTTGGAATTTCGCACATATGATGATTTCTCGTATCAAACATCCAAGGAAAAT c.2340
I L F L E F R T Y D D F S Y Q T S K E N p.780
. . . | 19 . . . g.68906
GAGGATGGCAAAGAAAAAGAAGAGGAAAATACG | GATGCAAATGCAGATGCTGGCTCAAGA c.2400
E D G K E K E E E N T | D A N A D A G S R p.800
. . . . . . g.68966
AAGGGGGATGAGGAGAACGAGCACAAAAAACAGAGAAGTATTCCCATCGGAACAAAGATC c.2460
K G D E E N E H K K Q R S I P I G T K I p.820
. . . . | 20 . . g.71062
TGTGAATTCTATAACGCGCCCATTGTCAAGTTCTGGTTTTACACA | ATATCATACTTGGGC c.2520
C E F Y N A P I V K F W F Y T | I S Y L G p.840
. . . . . . g.71122
TACCTGCTGCTGTTTAACTACGTCATCCTGGTGCGGATGGATGGCTGGCCGTCCCTCCAG c.2580
Y L L L F N Y V I L V R M D G W P S L Q p.860
. . . . . | 21 . g.73787
GAGTGGATCGTCATCTCCTACATCGTGAGCCTGGCGTTAGAGAAGATACGAGAG | ATCCTC c.2640
E W I V I S Y I V S L A L E K I R E | I L p.880
. . . . . . g.73847
ATGTCAGAACCAGGCAAACTCAGCCAGAAAATCAAAGTTTGGCTTCAGGAGTACTGGAAC c.2700
M S E P G K L S Q K I K V W L Q E Y W N p.900
. . . . . . g.73907
ATCACAGATCTCGTGGCCATTTCCACATTCATGATTGGAGCAATTCTTCGCCTACAGAAC c.2760
I T D L V A I S T F M I G A I L R L Q N p.920
. . . . . . g.73967
CAGCCCTACATGGGCTATGGCCGGGTGATCTACTGTGTGGATATCATCTTCTGGTACATC c.2820
Q P Y M G Y G R V I Y C V D I I F W Y I p.940
. . . . . . g.74027
CGTGTCCTGGACATCTTTGGTGTCAACAAGTATCTGGGGCCATACGTGATGATGATTGGA c.2880
R V L D I F G V N K Y L G P Y V M M I G p.960
| 22 . . . . . . g.75618
AAGATG | ATGATCGACATGCTGTACTTTGTGGTCATCATGCTGGTCGTGCTCATGAGTTTC c.2940
K M | M I D M L Y F V V I M L V V L M S F p.980
. . . . . . g.75678
GGAGTAGCCCGTCAAGCCATTCTGCATCCAGAGGAGAAGCCCTCTTGGAAACTGGCCCGA c.3000
G V A R Q A I L H P E E K P S W K L A R p.1000
. . . . . . g.75738
AACATCTTCTACATGCCCTACTGGATGATCTATGGAGAGGTGTTTGCAGACCAGATAGAC c.3060
N I F Y M P Y W M I Y G E V F A D Q I D p.1020
| 23 . . | 24 . . . . g.78283
C | TCTACGCCATGGAAATTAATC | CTCCTTGTGGTGAGAACCTATATGATGAGGAGGGCAAG c.3120
L | Y A M E I N P | P C G E N L Y D E E G K p.1040
. . . . . . g.78343
CGGCTTCCTCCCTGTATCCCCGGCGCCTGGCTCACTCCAGCACTCATGGCGTGCTATCTA c.3180
R L P P C I P G A W L T P A L M A C Y L p.1060
. . . . | 25. . g.79617
CTGGTCGCCAACATCCTGCTGGTGAACCTGCTGATTGCTGTGTTCAA | CAATACCTTCTTT c.3240
L V A N I L L V N L L I A V F N | N T F F p.1080
. . . . . . g.79677
GAAGTAAAATCAATATCCAACCAGGTGTGGAAGTTCCAGCGATATCAGCTGATTATGACA c.3300
E V K S I S N Q V W K F Q R Y Q L I M T p.1100
. . . . . . g.79737
TTTCATGACAGGCCAGTCCTGCCCCCACCGATGATCATTTTAAGCCACATCTACATCATC c.3360
F H D R P V L P P P M I I L S H I Y I I p.1120
. . . . . . g.79797
ATTATGCGTCTCAGCGGCCGCTGCAGGAAAAAGAGAGAAGGGGACCAAGAGGAACGGGAT c.3420
I M R L S G R C R K K R E G D Q E E R D p.1140
. | 26 . . . . . g.80500
CGTGGATTGA | AGCTCTTCCTTAGCGACGAGGAGCTAAAGAGGCTGCATGAGTTCGAGGAG c.3480
R G L K | L F L S D E E L K R L H E F E E p.1160
. . . . . . g.80560
CAGTGCGTGCAGGAGCACTTCCGGGAGAAGGAGGATGAGCAGCAGTCGTCCAGCGACGAG c.3540
Q C V Q E H F R E K E D E Q Q S S S D E p.1180
. . | 27 . . . . g.103688
CGCATCCGGGTCACTTCTGAAAG | AGTTGAAAATATGTCAATGAGGTTGGAAGAAATCAAT c.3600
R I R V T S E R | V E N M S M R L E E I N p.1200
. . . . . . g.103748
GAAAGAGAAACTTTTATGAAAACTTCCCTGCAGACTGTTGACCTTCGACTTGCTCAGCTA c.3660
E R E T F M K T S L Q T V D L R L A Q L p.1220
. . . . . . g.103808
GAAGAATTATCTAACAGAATGGTGAATGCTCTTGAAAATCTTGCGGGAATCGACAGGTCT c.3720
E E L S N R M V N A L E N L A G I D R S p.1240
. . . . . . g.103868
GACCTGATCCAGGCACGGTCCCGGGCTTCTTCTGAATGTGAGGCAACGTATCTTCTCCGG c.3780
D L I Q A R S R A S S E C E A T Y L L R p.1260
. . . . . . g.103928
CAAAGCAGCATCAATAGCGCTGATGGCTACAGCTTGTATCGATATCATTTTAACGGAGAA c.3840
Q S S I N S A D G Y S L Y R Y H F N G E p.1280
. . . . . . g.103988
GAGTTATTATTTGAGGATACATCTCTCTCCACGTCACCAGGGACAGGAGTCAGGAAAAAA c.3900
E L L F E D T S L S T S P G T G V R K K p.1300
. . . . . . g.104048
ACCTGTTCCTTCCGTATAAAGGAAGAGAAGGACGTGAAAACGCACCTAGTCCCAGAATGT c.3960
T C S F R I K E E K D V K T H L V P E C p.1320
. . . . . . g.104108
CAGAACAGTCTTCACCTTTCACTGGGCACAAGCACATCAGCAACCCCAGATGGCAGTCAC c.4020
Q N S L H L S L G T S T S A T P D G S H p.1340
. . . . . . g.104168
CTTGCAGTAGATGACTTAAAGAACGCTGAAGAGTCAAAATTAGGTCCAGATATTGGGATT c.4080
L A V D D L K N A E E S K L G P D I G I p.1360
. . . . . . g.104228
TCAAAGGAAGATGATGAAAGACAGACAGACTCTAAAAAAGAAGAAACTATTTCCCCAAGT c.4140
S K E D D E R Q T D S K K E E T I S P S p.1380
. . . . . . g.104288
TTAAATAAAACAGATGTGATACATGGACAGGACAAATCAGATGTTCAAAACACTCAGCTA c.4200
L N K T D V I H G Q D K S D V Q N T Q L p.1400
. . . . . . g.104348
ACAGTGGAAACGACAAATATAGAAGGCACTATTTCCTATCCCCTGGAAGAAACCAAAATT c.4260
T V E T T N I E G T I S Y P L E E T K I p.1420
. . . . . . g.104408
ACACGCTATTTCCCCGATGAAACGATCAATGCTTGTAAAACAATGAAGTCCAGAAGCTTC c.4320
T R Y F P D E T I N A C K T M K S R S F p.1440
. . . . . . g.104468
GTCTATTCCCGGGGAAGAAAGCTGGTCGGTGGGGTTAACCAGGATGTAGAGTACAGTTCA c.4380
V Y S R G R K L V G G V N Q D V E Y S S p.1460
. . . . . . g.104528
ATCACGGACCAGCAATTGACGACGGAATGGCAATGCCAAGTTCAAAAGATCACGCGCTCT c.4440
I T D Q Q L T T E W Q C Q V Q K I T R S p.1480
. . . . . . g.104588
CATAGCACAGATATTCCTTACATTGTGTCGGAAGCTGCAGTGCAAGCTGAGCATAAAGAG c.4500
H S T D I P Y I V S E A A V Q A E H K E p.1500
. . . . . . g.104648
CAGTTTGCAGATATGCAAGATGAACACCATGTCGCTGAAGCAATTCCTCGAATCCCTCGC c.4560
Q F A D M Q D E H H V A E A I P R I P R p.1520
. . . . . . g.104708
TTGTCCCTAACCATTACTGACAGAAATGGGATGGAAAACTTACTGTCTGTGAAGCCAGAT c.4620
L S L T I T D R N G M E N L L S V K P D p.1540
. . . . . . g.104768
CAAACTTTGGGATTCCCATCTCTCAGGTCAAAAAGTTTACATGGACATCCTAGGAATGTG c.4680
Q T L G F P S L R S K S L H G H P R N V p.1560
. . . . . . g.104828
AAATCCATTCAGGGAAAGTTAGACAGATCTGGACATGCCAGTAGTGTAAGCAGCTTAGTA c.4740
K S I Q G K L D R S G H A S S V S S L V p.1580
. . . . . . g.104888
ATTGTGTCTGGAATGACAGCAGAAGAAAAAAAGGTTAAGAAAGAGAAAGCTTCCACAGAA c.4800
I V S G M T A E E K K V K K E K A S T E p.1600
. g.104900
ACTGAATGCTAG c.4812
T E C X p.1603
. . . . . . g.104960
tctgttttgtttctttaatttttttttttaacagtcagaaccactaatgggtgtcatctt c.*60
. . . . . . g.105020
ggccatctaaacatcatcaatttctaaaaacattttccttaaaaaattttggaaattcag c.*120
. . . . . . g.105080
acttgatttacaatttaatgcactaaaagtagtattttgttagcatatgttagtaggctt c.*180
. . . . . . g.105140
agttttttcagttgcagtagtatcaaatgaaagtgatgatactgtaacgaagataaattg c.*240
. . . . . . g.105200
gctaatcagtatacaagattatacaatctctttattactgagggccaccaaatagcctag c.*300
. . . . . . g.105260
gaagtgccctcgagcactgaagtcaccattaggtcacttaagaagtaagcaactagctgg c.*360
. . . . . . g.105320
gcacagtggctcatgcctgtaatcctagcactttgggaggccaaggcagaaagatagctt c.*420
. . . . . . g.105380
gagtccaggagtttgagaccagcctgggcaacatagtgataccccatctcttaaaaaaaa c.*480
. . . . . . g.105440
aaaaaaaagtaagcaactgtgtaagaaagagaaactaaagagaaagcaaacatgaaaaaa c.*540
. . . . . . g.105500
gggaggggtggaaagaagaaaaataaaattgtgaggcacaataagtgggaaggagccaca c.*600
. . . . . . g.105560
aatatgtttttatggggtctttgttttctgttttaatgttttattttaaactacacaatg c.*660
. . . . . . g.105620
ggaaaaaaagtacacaattatatcaaacatcatactctaataatttagggtgacctagag c.*720
. . . . g.105661
ttttgttaatgtgcaaaaataaagtatccaatatgcatttt c.*761
(downstream sequence)
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