(used for variant description)
(last modified August 22, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_004963.3 in the GUCY2C gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering GUCY2C transcript NM_004963.3.
(upstream sequence)
. g.5017
gaccagagagaagcgtg c.-121
. . . . . . g.5077
gggaagagtgggctgagggactccactagaggctgtccatctggattccctgcctcccta c.-61
. . . . . . g.5137
ggagcccaacagagcaaagcaagtgggcacaaggagtatggttctaacgtgattggggtc c.-1
. . . . . . g.5197
ATGAAGACGTTGCTGTTGGACTTGGCTTTGTGGTCACTGCTCTTCCAGCCCGGGTGGCTG c.60
M K T L L L D L A L W S L L F Q P G W L p.20
. . . . . . g.5257
TCCTTTAGTTCCCAGGTGAGTCAGAACTGCCACAATGGCAGCTATGAAATCAGCGTCCTG c.120
S F S S Q V S Q N C H N G S Y E I S V L p.40
. . . . . . g.5317
ATGATGGGCAACTCAGCCTTTGCAGAGCCCCTGAAAAACTTGGAAGATGCGGTGAATGAG c.180
M M G N S A F A E P L K N L E D A V N E p.60
. . . | 02. . . g.13545
GGGCTGGAAATAGTGAGAGGACGTCTGCAAAATGCTG | GCCTAAATGTGACTGTGAACGCT c.240
G L E I V R G R L Q N A G | L N V T V N A p.80
. . . . . . g.13605
ACTTTCATGTATTCGGATGGTCTGATTCATAACTCAGGCGACTGCCGGAGTAGCACCTGT c.300
T F M Y S D G L I H N S G D C R S S T C p.100
. . . | 03 . . . g.15390
GAAGGCCTCGACCTACTCAGGAAAATTTCA | AATGCACAACGGATGGGCTGTGTCCTCATA c.360
E G L D L L R K I S | N A Q R M G C V L I p.120
. . . | 04 . . . g.18353
GGGCCCTCATGTACATACTCCACCTTCCAGATGTA | CCTTGACACAGAATTGAGCTACCCC c.420
G P S C T Y S T F Q M Y | L D T E L S Y P p.140
. . . . . . g.18413
ATGATCTCAGCTGGAAGTTTTGGATTGTCATGTGACTATAAAGAAACCTTAACCAGGCTG c.480
M I S A G S F G L S C D Y K E T L T R L p.160
. . . . . . g.18473
ATGTCTCCAGCTAGAAAGTTGATGTACTTCTTGGTTAACTTTTGGAAAACCAACGATCTG c.540
M S P A R K L M Y F L V N F W K T N D L p.180
. . . . . . g.18533
CCCTTCAAAACTTATTCCTGGAGCACTTCGTATGTTTACAAGAATGGTACAGAAACTGAG c.600
P F K T Y S W S T S Y V Y K N G T E T E p.200
. | 05 . . . . . g.20157
GACTGTTTCTG | GTACCTTAATGCTCTGGAGGCTAGCGTTTCCTATTTCTCCCACGAACTC c.660
D C F W | Y L N A L E A S V S Y F S H E L p.220
. . . . . . g.20217
GGCTTTAAGGTGGTGTTAAGACAAGATAAGGAGTTTCAGGATATCTTAATGGACCACAAC c.720
G F K V V L R Q D K E F Q D I L M D H N p.240
. | 06 . . . . . g.21879
AGGAAAAGCAATG | TGATTATTATGTGTGGTGGTCCAGAGTTCCTCTACAAGCTGAAGGGT c.780
R K S N V | I I M C G G P E F L Y K L K G p.260
. . . . . | 07 . g.24624
GACCGAGCAGTGGCTGAAGACATTGTCATTATTCTAGTGGATCTTTTCAA | TGACCAGTAC c.840
D R A V A E D I V I I L V D L F N | D Q Y p.280
. . . . . . g.24684
TTTGAGGACAATGTCACAGCCCCTGACTATATGAAAAATGTCCTTGTTCTGACGCTGTCT c.900
F E D N V T A P D Y M K N V L V L T L S p.300
. . . . | 08 . g.26837
CCTGGGAATTCCCTTCTAAATAGCTCTTTCTCCAGGAATCTATCACCA | ACAAAACGAGAC c.960
P G N S L L N S S F S R N L S P | T K R D p.320
. . . . . . g.26897
TTTGCTCTTGCCTATTTGAATGGAATCCTGCTCTTTGGACATATGCTGAAGATATTTCTT c.1020
F A L A Y L N G I L L F G H M L K I F L p.340
. . . . . . g.26957
GAAAATGGAGAAAATATTACCACCCCCAAATTTGCTCATGCTTTCAGGAATCTCACTTTT c.1080
E N G E N I T T P K F A H A F R N L T F p.360
| 09 . . . . . . g.28683
GAAG | GGTATGACGGTCCAGTGACCTTGGATGACTGGGGGGATGTTGACAGTACCATGGTG c.1140
E G | Y D G P V T L D D W G D V D S T M V p.380
. . . | 10 . . . g.31782
CTTCTGTATACCTCTGTGGACACCAAGAAA | TACAAGGTTCTTTTGACCTATGATACCCAC c.1200
L L Y T S V D T K K | Y K V L L T Y D T H p.400
. . . . . . g.31842
GTAAATAAGACCTATCCTGTGGATATGAGCCCCACATTCACTTGGAAGAACTCTAAACTT c.1260
V N K T Y P V D M S P T F T W K N S K L p.420
. . | 11 . . . . g.40561
CCTAATGATATTACAGGCCGGG | GCCCTCAGATCCTGATGATTGCAGTCTTCACCCTCACT c.1320
P N D I T G R G | P Q I L M I A V F T L T p.440
. . . . | 12 . . g.44984
GGAGCTGTGGTGCTGCTCCTGCTCGTCGCTCTCCTGATGCTCAG | AAAATATAGAAAAGAT c.1380
G A V V L L L L V A L L M L R | K Y R K D p.460
. . . . . . g.45044
TATGAACTTCGTCAGAAAAAATGGTCCCACATTCCTCCTGAAAATATCTTTCCTCTGGAG c.1440
Y E L R Q K K W S H I P P E N I F P L E p.480
. . . | 13 . . . g.48601
ACCAATGAGACCAATCATGTTAGCCTCAAG | ATCGATGATGACAAAAGACGAGATACAATC c.1500
T N E T N H V S L K | I D D D K R R D T I p.500
. . . | 14 . . . g.49582
CAGAGACTACGACAGTGCAAATACGACAAAAAG | CGAGTGATTCTCAAAGATCTCAAGCAC c.1560
Q R L R Q C K Y D K K | R V I L K D L K H p.520
. . . . | 15 . . g.50089
AATGATGGTAATTTCACTGAAAAACAGAAGATAGAATTGAACAAG | TTGCTTCAGATTGAC c.1620
N D G N F T E K Q K I E L N K | L L Q I D p.540
. . . . . . g.50149
TATTACAACCTGACCAAGTTCTACGGCACAGTGAAACTTGATACCATGATCTTCGGGGTG c.1680
Y Y N L T K F Y G T V K L D T M I F G V p.560
. . . | 16 . . . g.56300
ATAGAATACTGTGAGAGAGGATCCCTCCGG | GAAGTTTTAAATGACACAATTTCCTACCCT c.1740
I E Y C E R G S L R | E V L N D T I S Y P p.580
. . . . . | 17. g.57882
GATGGCACATTCATGGATTGGGAGTTTAAGATCTCTGTCTTGTATGACATTGCTAAG | GGA c.1800
D G T F M D W E F K I S V L Y D I A K | G p.600
. . . . . . g.57942
ATGTCATATCTGCACTCCAGTAAGACAGAAGTCCATGGTCGTCTGAAATCTACCAACTGC c.1860
M S Y L H S S K T E V H G R L K S T N C p.620
. . . . . . g.58002
GTAGTGGACAGTAGAATGGTGGTGAAGATCACTGATTTTGGCTGCAATTCCATTTTACCT c.1920
V V D S R M V V K I T D F G C N S I L P p.640
. | 18 . . . . . g.60416
CCAAAAAAGG | ACCTGTGGACAGCTCCAGAGCACCTCCGCCAAGCCAACATCTCTCAGAAA c.1980
P K K D | L W T A P E H L R Q A N I S Q K p.660
. . . . . . g.60476
GGAGATGTGTACAGCTATGGGATCATCGCACAGGAGATCATCCTGCGGAAAGAAACCTTC c.2040
G D V Y S Y G I I A Q E I I L R K E T F p.680
. . | 19 . . . g.61667
TACACTTTGAGCTGTCGGGACCGGAATG | AGAAGATTTTCAGAGTGGAAAATTCCAATGGA c.2100
Y T L S C R D R N E | K I F R V E N S N G p.700
. . . . . | 20. g.72851
ATGAAACCCTTCCGCCCAGATTTATTCTTGGAAACAGCAGAGGAAAAAGAGCTAGAA | GTG c.2160
M K P F R P D L F L E T A E E K E L E | V p.720
. . . . . . g.72911
TACCTACTTGTAAAAAACTGTTGGGAGGAAGATCCAGAAAAGAGACCAGATTTCAAAAAA c.2220
Y L L V K N C W E E D P E K R P D F K K p.740
. . | 21 . . . g.75701
ATTGAGACTACACTTGCCAAGATATTTGG | ACTTTTTCATGACCAAAAAAATGAAAGCTAT c.2280
I E T T L A K I F G | L F H D Q K N E S Y p.760
. . . . . . g.75761
ATGGATACCTTGATCCGACGTCTACAGCTATATTCTCGAAACCTGGAACATCTGGTAGAG c.2340
M D T L I R R L Q L Y S R N L E H L V E p.780
. . . . . . g.75821
GAAAGGACACAGCTGTACAAGGCAGAGAGGGACAGGGCTGACAGACTTAACTTTATGTTG c.2400
E R T Q L Y K A E R D R A D R L N F M L p.800
| 22 . . . . . g.79440
CTTCCAAG | GCTAGTGGTAAAGTCTCTGAAGGAGAAAGGCTTTGTGGAGCCGGAACTATAT c.2460
L P R | L V V K S L K E K G F V E P E L Y p.820
. . . . . . g.79500
GAGGAAGTTACAATCTACTTCAGTGACATTGTAGGTTTCACTACTATCTGCAAATACAGC c.2520
E E V T I Y F S D I V G F T T I C K Y S p.840
. . . . . . g.79560
ACCCCCATGGAAGTGGTGGACATGCTTAATGACATCTATAAGAGTTTTGACCACATTGTT c.2580
T P M E V V D M L N D I Y K S F D H I V p.860
. . | 23 . . . . g.80408
GATCATCATGATGTCTACAAG | GTGGAAACCATCGGTGATGCGTACATGGTGGCTAGTGGT c.2640
D H H D V Y K | V E T I G D A Y M V A S G p.880
. . . . . . g.80468
TTGCCTAAGAGAAATGGCAATCGGCATGCAATAGACATTGCCAAGATGGCCTTGGAAATC c.2700
L P K R N G N R H A I D I A K M A L E I p.900
. . . . . . g.80528
CTCAGCTTCATGGGGACCTTTGAGCTGGAGCATCTTCCTGGCCTCCCAATATGGATTCGC c.2760
L S F M G T F E L E H L P G L P I W I R p.920
. | 24 . . . . . g.82320
ATTGGAGTTCACTCTG | GTCCCTGTGCTGCTGGAGTTGTGGGAATCAAGATGCCTCGTTAT c.2820
I G V H S G | P C A A G V V G I K M P R Y p.940
. . . . . | 25 . g.84863
TGTCTATTTGGAGATACGGTCAACACAGCCTCTAGGATGGAATCCACTGGCCTCC | CTTTG c.2880
C L F G D T V N T A S R M E S T G L P | L p.960
. . . . . . g.84923
AGAATTCACGTGAGTGGCTCCACCATAGCCATCCTGAAGAGAACTGAGTGCCAGTTCCTT c.2940
R I H V S G S T I A I L K R T E C Q F L p.980
. . . | 26 . . . g.86672
TATGAAGTGAGAGGAGAAACATACTTAAAG | GGAAGAGGAAATGAGACTACCTACTGGCTG c.3000
Y E V R G E T Y L K | G R G N E T T Y W L p.1000
. . . . | 27. . g.88307
ACTGGGATGAAGGACCAGAAATTCAACCTGCCAACCCCTCCTACTGT | GGAGAATCAACAG c.3060
T G M K D Q K F N L P T P P T V | E N Q Q p.1020
. . . . . . g.88367
CGTTTGCAAGCAGAATTTTCAGACATGATTGCCAACTCTTTACAGAAAAGACAGGCAGCA c.3120
R L Q A E F S D M I A N S L Q K R Q A A p.1040
. . . . . . g.88427
GGGATAAGAAGCCAAAAACCCAGACGGGTAGCCAGCTATAAAAAAGGCACTCTGGAATAC c.3180
G I R S Q K P R R V A S Y K K G T L E Y p.1060
. . . . g.88469
TTGCAGCTGAATACCACAGACAAGGAGAGCACCTATTTTTAA c.3222
L Q L N T T D K E S T Y F X p.1073
. . . . . . g.88529
acctaaatgaggtataaggactcacacaaattaaaatacagctgcactgaggcagcgacc c.*60
. . . . . . g.88589
tcaagtgtcctgaaagcttacattttcctgagacctcaatgaagcagaaatgtacttagg c.*120
. . . . . . g.88649
cttggctgccctgtctggaacatggactttcttgcatgaatcagatgtgtgttctcagtg c.*180
. . . . . . g.88709
aaataactaccttccactctggaaccttattccagcagttgttccagggagcttctacct c.*240
. . . . . . g.88769
ggaaaagaaaagaaatgaatagactatctagaacttgagaagattttattcttatttcat c.*300
. . . . . . g.88829
ttattttttgtttgtttatttttatcgtttttgtttactggctttccttctgtattcata c.*360
. . . . . . g.88889
agattttttaaattgtcataattatattttaaatacccatcttcattaaagtatatttaa c.*420
. . . . . . g.88949
ctcataatttttgcagaaaatatgctatatattaggcaagaataaaagctaaaggtttcc c.*480
g.88954
caaaa c.*485
(downstream sequence)
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