(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)Legend:
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