(used for variant description)
(last modified June 22, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_017636.3 in the TRPM4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_027551.1, covering TRPM4 transcript NM_017636.3.
(upstream sequence)
. . . . g.5048
aggctggaaagtggaggatccggtttgctctgggcgggtctggaagca c.-61
. . . . . . g.5108
gagccggcggagggagcgccggggccctgggctgcaggaggttgcggcggccgcggcagc c.-1
. . | 02 . . . . g.5469
ATGGTGGTGCCGGAGAAGGAGCAG | AGCTGGATCCCCAAGATCTTCAAGAAGAAGACCTGC c.60
M V V P E K E Q | S W I P K I F K K K T C p.20
. . . | 03 . . . g.13310
ACGACGTTCATAGTTGACTCCACAGATCCGGG | AGGGACCTTGTGCCAGTGTGGGCGCCCC c.120
T T F I V D S T D P G | G T L C Q C G R P p.40
. . . . . . g.13370
CGGACCGCCCACCCCGCAGTGGCCATGGAGGATGCCTTCGGGGCAGCCGTGGTGACCGTG c.180
R T A H P A V A M E D A F G A A V V T V p.60
. . . . . . g.13430
TGGGACAGCGATGCACACACCACGGAGAAGCCCACCGATGCCTACGGAGAGCTGGACTTC c.240
W D S D A H T T E K P T D A Y G E L D F p.80
. . | 04. . . . g.15191
ACGGGGGCCGGCCGCAAGCACAGCAAT | TTCCTCCGGCTCTCTGACCGAACGGATCCAGCT c.300
T G A G R K H S N | F L R L S D R T D P A p.100
. . . . . . g.15251
GCAGTTTATAGTCTGGTCACACGCACATGGGGCTTCCGTGCCCCGAACCTGGTGGTGTCA c.360
A V Y S L V T R T W G F R A P N L V V S p.120
. . . . . . g.15311
GTGCTGGGGGGATCGGGGGGCCCCGTCCTCCAGACCTGGCTGCAGGACCTGCTGCGTCGT c.420
V L G G S G G P V L Q T W L Q D L L R R p.140
. . | 05 . . . g.15533
GGGCTGGTGCGGGCTGCCCAGAGCACAG | GAGCCTGGATTGTCACTGGGGGTCTGCACACG c.480
G L V R A A Q S T G | A W I V T G G L H T p.160
. . . . . . g.15593
GGCATCGGCCGGCATGTTGGTGTGGCTGTACGGGACCATCAGATGGCCAGCACTGGGGGC c.540
G I G R H V G V A V R D H Q M A S T G G p.180
. . . . . . g.15653
ACCAAGGTGGTGGCCATGGGTGTGGCCCCCTGGGGTGTGGTCCGGAATAGAGACACCCTC c.600
T K V V A M G V A P W G V V R N R D T L p.200
. | 06 . . . . . g.15842
ATCAACCCCAAG | GGCTCGTTCCCTGCGAGGTACCGGTGGCGCGGTGACCCGGAGGACGGG c.660
I N P K | G S F P A R Y R W R G D P E D G p.220
. . . . . . g.15902
GTCCAGTTTCCCCTGGACTACAACTACTCGGCCTTCTTCCTGGTGGACGACGGCACACAC c.720
V Q F P L D Y N Y S A F F L V D D G T H p.240
. . . . . . g.15962
GGCTGCCTGGGGGGCGAGAACCGCTTCCGCTTGCGCCTGGAGTCCTACATCTCACAGCAG c.780
G C L G G E N R F R L R L E S Y I S Q Q p.260
. | 07 . . . . . g.18642
AAGACGGGCGTGGGAG | GGACTGGAATTGACATCCCTGTCCTGCTCCTCCTGATTGATGGT c.840
K T G V G G | T G I D I P V L L L L I D G p.280
. | 08 . . . . g.18861
GATGAGAAGATGTTGACG | CGAATAGAGAACGCCACCCAGGCTCAGCTCCCATGTCTCCTC c.900
D E K M L T | R I E N A T Q A Q L P C L L p.300
. . . . . . g.18921
GTGGCTGGCTCAGGGGGAGCTGCGGACTGCCTGGCGGAGACCCTGGAAGACACTCTGGCC c.960
V A G S G G A A D C L A E T L E D T L A p.320
. . . . . . g.18981
CCAGGGAGTGGGGGAGCCAGGCAAGGCGAAGCCCGAGATCGAATCAGGCGTTTCTTTCCC c.1020
P G S G G A R Q G E A R D R I R R F F P p.340
. . . | 09 . . . g.19280
AAAGGGGACCTTGAGGTCCTGCAGGCCCAG | GTGGAGAGGATTATGACCCGGAAGGAGCTC c.1080
K G D L E V L Q A Q | V E R I M T R K E L p.360
. . . . . . g.19340
CTGACAGTCTATTCTTCTGAGGATGGGTCTGAGGAATTCGAGACCATAGTTTTGAAGGCC c.1140
L T V Y S S E D G S E E F E T I V L K A p.380
. | 10 . . . . . g.28640
CTTGTGAAGG | CCTGTGGGAGCTCGGAGGCCTCAGCCTACCTGGATGAGCTGCGTTTGGCT c.1200
L V K A | C G S S E A S A Y L D E L R L A p.400
. . . . . . g.28700
GTGGCTTGGAACCGCGTGGACATTGCCCAGAGTGAACTCTTTCGGGGGGACATCCAATGG c.1260
V A W N R V D I A Q S E L F R G D I Q W p.420
| 11 . . . . . . g.29876
CGG | TCCTTCCATCTCGAAGCTTCCCTCATGGACGCCCTGCTGAATGACCGGCCTGAGTTC c.1320
R | S F H L E A S L M D A L L N D R P E F p.440
. . . . . . g.29936
GTGCGCTTGCTCATTTCCCACGGCCTCAGCCTGGGCCACTTCCTGACCCCGATGCGCCTG c.1380
V R L L I S H G L S L G H F L T P M R L p.460
. . . . . . g.29996
GCCCAACTCTACAGCGCGGCGCCCTCCAACTCGCTCATCCGCAACCTTTTGGACCAGGCG c.1440
A Q L Y S A A P S N S L I R N L L D Q A p.480
. . . . . . g.30056
TCCCACAGCGCAGGCACCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCTCCGGCCC c.1500
S H S A G T K A P A L K G G A A E L R P p.500
. . . . . . g.30116
CCTGACGTGGGGCATGTGCTGAGGATGCTGCTGGGGAAGATGTGCGCGCCGAGGTACCCC c.1560
P D V G H V L R M L L G K M C A P R Y P p.520
. . . . | 12 . g.30331
TCCGGGGGCGCCTGGGACCCTCACCCAGGCCAGGGCTTCGGGGAGAGC | ATGTATCTGCTC c.1620
S G G A W D P H P G Q G F G E S | M Y L L p.540
. . . . . . g.30391
TCGGACAAGGCCACCTCGCCGCTCTCGCTGGATGCTGGCCTCGGGCAGGCCCCCTGGAGC c.1680
S D K A T S P L S L D A G L G Q A P W S p.560
. . . . . . g.30451
GACCTGCTTCTTTGGGCACTGTTGCTGAACAGGGCACAGATGGCCATGTACTTCTGGGAG c.1740
D L L L W A L L L N R A Q M A M Y F W E p.580
| 13 . . . . . . g.35939
ATG | GGTTCCAATGCAGTTTCCTCAGCTCTTGGGGCCTGTTTGCTGCTCCGGGTGATGGCA c.1800
M | G S N A V S S A L G A C L L L R V M A p.600
. . . . . . g.35999
CGCCTGGAGCCTGACGCTGAGGAGGCAGCACGGAGGAAAGACCTGGCGTTCAAGTTTGAG c.1860
R L E P D A E E A A R R K D L A F K F E p.620
. | 14 . . . . . g.36234
GGGATGGGCGTTG | ACCTCTTTGGCGAGTGCTATCGCAGCAGTGAGGTGAGGGCTGCCCGC c.1920
G M G V D | L F G E C Y R S S E V R A A R p.640
. . . . . . g.36294
CTCCTCCTCCGTCGCTGCCCGCTCTGGGGGGATGCCACTTGCCTCCAGCTGGCCATGCAA c.1980
L L L R R C P L W G D A T C L Q L A M Q p.660
. . . | 15 . . g.37470
GCTGACGCCCGTGCCTTCTTTGCCCAGGATGGGGTACAG | TCTCTGCTGACACAGAAGTGG c.2040
A D A R A F F A Q D G V Q | S L L T Q K W p.680
. . . . . . g.37530
TGGGGAGATATGGCCAGCACTACACCCATCTGGGCCCTGGTTCTCGCCTTCTTTTGCCCT c.2100
W G D M A S T T P I W A L V L A F F C P p.700
. . . | 16 . . . g.37965
CCACTCATCTACACCCGCCTCATCACCTTCAG | GAAATCAGAAGAGGAGCCCACACGGGAG c.2160
P L I Y T R L I T F R | K S E E E P T R E p.720
. . . . . | 17 . g.43691
GAGCTAGAGTTTGACATGGATAGTGTCATTAATGGGGAAGGGCCTGTCGG | GACGGCGGAC c.2220
E L E F D M D S V I N G E G P V G | T A D p.740
. . . . . . g.43751
CCAGCCGAGAAGACGCCGCTGGGGGTCCCGCGCCAGTCGGGCCGTCCGGGTTGCTGCGGG c.2280
P A E K T P L G V P R Q S G R P G C C G p.760
. . . . . . g.43811
GGCCGCTGCGGGGGGCGCCGGTGCCTACGCCGCTGGTTCCACTTCTGGGGCGCGCCGGTG c.2340
G R C G G R R C L R R W F H F W G A P V p.780
. . . . . . g.43871
ACCATCTTCATGGGCAACGTGGTCAGCTACCTGCTGTTCCTGCTGCTTTTCTCGCGGGTG c.2400
T I F M G N V V S Y L L F L L L F S R V p.800
. . . . . . g.43931
CTGCTCGTGGATTTCCAGCCGGCGCCGCCCGGCTCCCTGGAGCTGCTGCTCTATTTCTGG c.2460
L L V D F Q P A P P G S L E L L L Y F W p.820
. . . . . . g.43991
GCTTTCACGCTGCTGTGCGAGGAACTGCGCCAGGGCCTGAGCGGAGGCGGGGGCAGCCTC c.2520
A F T L L C E E L R Q G L S G G G G S L p.840
. . . . . . g.44051
GCCAGCGGGGGCCCCGGGCCTGGCCATGCCTCACTGAGCCAGCGCCTGCGCCTCTACCTC c.2580
A S G G P G P G H A S L S Q R L R L Y L p.860
. . . . . . g.44111
GCCGACAGCTGGAACCAGTGCGACCTAGTGGCTCTCACCTGCTTCCTCCTGGGCGTGGGC c.2640
A D S W N Q C D L V A L T C F L L G V G p.880
| 18 . . . . . . g.47596
TGCCG | GCTGACCCCGGGTTTGTACCACCTGGGCCGCACTGTCCTCTGCATCGACTTCATG c.2700
C R | L T P G L Y H L G R T V L C I D F M p.900
. . . . . . g.47656
GTTTTCACGGTGCGGCTGCTTCACATCTTCACGGTCAACAAACAGCTGGGGCCCAAGATC c.2760
V F T V R L L H I F T V N K Q L G P K I p.920
. | 19 . . . . g.47894
GTCATCGTGAGCAAGATG | ATGAAGGACGTGTTCTTCTTCCTCTTCTTCCTCGGCGTGTGG c.2820
V I V S K M | M K D V F F F L F F L G V W p.940
. . . . . . g.47954
CTGGTAGCCTATGGCGTGGCCACGGAGGGGCTCCTGAGGCCACGGGACAGTGACTTCCCA c.2880
L V A Y G V A T E G L L R P R D S D F P p.960
. . . . . . g.48014
AGTATCCTGCGCCGCGTCTTCTACCGTCCCTACCTGCAGATCTTCGGGCAGATTCCCCAG c.2940
S I L R R V F Y R P Y L Q I F G Q I P Q p.980
. | 20 . . . . . g.49252
GAGGACATGGACG | TGGCCCTCATGGAGCACAGCAACTGCTCGTCGGAGCCCGGCTTCTGG c.3000
E D M D V | A L M E H S N C S S E P G F W p.1000
. . . . . . g.49312
GCACACCCTCCTGGGGCCCAGGCGGGCACCTGCGTCTCCCAGTATGCCAACTGGCTGGTG c.3060
A H P P G A Q A G T C V S Q Y A N W L V p.1020
. . . . . . g.49372
GTGCTGCTCCTCGTCATCTTCCTGCTCGTGGCCAACATCCTGCTGGTCAACTTGCTCATT c.3120
V L L L V I F L L V A N I L L V N L L I p.1040
. | 21 . . . . . g.57499
GCCATGTTCAG | TTACACATTCGGCAAAGTACAGGGCAACAGCGATCTCTACTGGAAGGCG c.3180
A M F S | Y T F G K V Q G N S D L Y W K A p.1060
. . . . . . g.57559
CAGCGTTACCGCCTCATCCGGGAATTCCACTCTCGGCCCGCGCTGGCCCCGCCCTTTATC c.3240
Q R Y R L I R E F H S R P A L A P P F I p.1080
. . . . . . g.57619
GTCATCTCCCACTTGCGCCTCCTGCTCAGGCAATTGTGCAGGCGACCCCGGAGCCCCCAG c.3300
V I S H L R L L L R Q L C R R P R S P Q p.1100
. . | 22 . . . g.57983
CCGTCCTCCCCGGCCCTCGAGCATTTCC | GGGTTTACCTTTCTAAGGAAGCCGAGCGGAAG c.3360
P S S P A L E H F R | V Y L S K E A E R K p.1120
. . . . . . g.58043
CTGCTAACGTGGGAATCGGTGCATAAGGAGAACTTTCTGCTGGCACGCGCTAGGGACAAG c.3420
L L T W E S V H K E N F L L A R A R D K p.1140
. . . . | 23 . . g.58275
CGGGAGAGCGACTCCGAGCGTCTGAAGCGCACGTCCCAGAA | GGTGGACTTGGCACTGAAA c.3480
R E S D S E R L K R T S Q K | V D L A L K p.1160
. . . . . | 24 . g.58411
CAGCTGGGACACATCCGCGAGTACGAACAGCGCCTGAAAGTGCTGGAGCGGGAG | GTCCAG c.3540
Q L G H I R E Y E Q R L K V L E R E | V Q p.1180
. . . . . . g.58471
CAGTGTAGCCGCGTCCTGGGGTGGGTGGCCGAGGCCCTGAGCCGCTCTGCCTTGCTGCCC c.3600
Q C S R V L G W V A E A L S R S A L L P p.1200
. . . . | 25 g.58755
CCAGGTGGGCCGCCACCCCCTGACCTGCCTGGGTCCAAAG | ACTGA c.3645
P G G P P P P D L P G S K D | X p.1214
. . . . . . g.58815
gccctgctggcggacttcaaggagaagcccccacaggggattttgctcctagagtaaggc c.*60
. . . . . . g.58875
tcatctgggcctcggcccccgcacctggtggccttgtccttgaggtgagccccatgtcca c.*120
. . . . . . g.58935
tctgggccactgtcaggaccacctttgggagtgtcatccttacaaaccacagcatgcccg c.*180
. . . . . . g.58995
gctcctcccagaaccagtcccagcctgggaggatcaaggcctggatcccgggccgttatc c.*240
. . . . . . g.59055
catctggaggctgcagggtccttggggtaacagggaccacagacccctcaccactcacag c.*300
. . . . g.59098
attcctcacactggggaaataaagccatttcagaggaatcgtg c.*343
(downstream sequence)
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