(used for variant description)
(last modified June 14, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001297.4 in the CNGB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016351.1, covering CNGB1 transcript NM_001297.4.
(upstream sequence)
g.5005
ccagc c.-61
. . . . . . | 02 g.8830
tacgagtggcagcaagaaggcaattcctggctggcggttggcatctaagcag | gcatcagg c.-1
. . . . . . g.8890
ATGTTGGGCTGGGTCCAGAGGGTGCTGCCTCAGCCCCCAGGGACCCCTCGGAAGACCAAG c.60
M L G W V Q R V L P Q P P G T P R K T K p.20
. . . . . . g.8950
ATGCAGGAGGAAGAGGAAGTGGAACCAGAGCCAGAGATGGAGGCGGAGGTGGAACCAGAA c.120
M Q E E E E V E P E P E M E A E V E P E p.40
. . . | 03 . . g.11593
CCGAATCCTGAGGAGGCCGAGACAGAGTCCGAGTCCATG | CCCCCCGAAGAGTCATTCAAG c.180
P N P E E A E T E S E S M | P P E E S F K p.60
. . . | 04. . . g.11937
GAGGAGGAAGTGGCTGTGGCAGACCCAAGCCCTCAGG | AGACCAAGGAGGCTGCCCTTACT c.240
E E E V A V A D P S P Q E | T K E A A L T p.80
. . . . . | 05 . g.13062
TCCACCATATCCCTCCGGGCCCAGGGCGCTGAGATTTCTGAAATGAATAG | TCCCAGCCGC c.300
S T I S L R A Q G A E I S E M N S | P S R p.100
. . . . . . g.13122
AGGGTACTGACCTGGCTCATGAAGGGCGTAGAGAAGGTGATCCCGCAGCCTGTTCACAGC c.360
R V L T W L M K G V E K V I P Q P V H S p.120
. . | 06 . . . | 07 . g.13514
ATCACGGAGGACCCGGCTCAG | ATCCTGGGGCATGGCAGCACTGGGGACACAG | GGTGCACA c.420
I T E D P A Q | I L G H G S T G D T G | C T p.140
. . . | 08 . . g.15223
GATGAACCCAATGAGGCCCTTGAGGCCCAAGACACTAG | GCCTGGGCTGCGGCTGCTTCTG c.480
D E P N E A L E A Q D T R | P G L R L L L p.160
. . . . . | 09 . g.15592
TGGCTGGAGCAGAATCTGGAAAGAGTGCTTCCTCAGCCCCCCAAATCCTCTGAG | GTCTGG c.540
W L E Q N L E R V L P Q P P K S S E | V W p.180
. . . . | 10 . . g.16068
AGAGATGAGCCTGCAGTTGCTACAGGTGCTGCCTCAGACCCAG | CGCCTCCAGGACGCCCC c.600
R D E P A V A T G A A S D P A | P P G R P p.200
. . . . . . g.16128
CAGGAAATGGGGCCCAAGCTGCAGGCCCGGGAGACCCCCTCCCTGCCCACACCCATCCCC c.660
Q E M G P K L Q A R E T P S L P T P I P p.220
. . . . . . g.16188
CTGCAGCCCAAGGAGGAACCCAAGGAGGCACCAGCTCCAGAGCCCCAGCCCGGCTCCCAG c.720
L Q P K E E P K E A P A P E P Q P G S Q p.240
. . . . | 11 . . g.17650
GCCCAGACCTCCTCCCTGCCACCAACCAGGGACCCTGCCAG | GCTGGTGGCATGGGTCCTG c.780
A Q T S S L P P T R D P A R | L V A W V L p.260
. . . . . | 12. g.18742
CACAGGCTGGAGATGGCCTTGCCGCAGCCAGTGCTACATGGGAAAATAGGGGAACAG | GAG c.840
H R L E M A L P Q P V L H G K I G E Q | E p.280
. . . | 13 . . . g.25602
CCTGACTCCCCTGGGATATGTGATGTGCAGACCA | TCAGCATCCTTCCTGGAGGACAAGTG c.900
P D S P G I C D V Q T I | S I L P G G Q V p.300
. . . . . . g.25662
GAGCCTGACCTTGTCCTAGAGGAGGTTGAACCGCCCTGGGAGGATGCCCACCAGGATGTC c.960
E P D L V L E E V E P P W E D A H Q D V p.320
. . . . . . g.25722
AGTACCAGCCCACAGGGTACAGAGGTGGTTCCAGCTTATGAAGAAGAGAACAAAGCTGTG c.1020
S T S P Q G T E V V P A Y E E E N K A V p.340
. | 14 . . . . . g.26723
GAGAAGATGCCCAG | AGAGCTGTCCCGGATTGAAGAGGAGAAAGAAGATGAGGAGGAGGAA c.1080
E K M P R | E L S R I E E E K E D E E E E p.360
. . . . | 15 . . g.35814
GAGGAAGAGGAGGAGGAGGAGGAAGAGGAGGAGGTGACTGA | GGTGCTGCTGGATAGCTGT c.1140
E E E E E E E E E E E V T E | V L L D S C p.380
. . . . . . g.35874
GTGGTGTCGCAGGTGGGCGTGGGCCAGAGTGAAGAAGACGGGACCCGGCCCCAGAGCACT c.1200
V V S Q V G V G Q S E E D G T R P Q S T p.400
| 16 . . . . . g.36575
TCAGATCAG | AAGCTGTGGGAGGAAGTTGGGGAGGAGGCCAAGAAGGAGGCTGAAGAGAAG c.1260
S D Q | K L W E E V G E E A K K E A E E K p.420
. . . . . . g.36635
GCCAAGGAGGAGGCCGAGGAGGTGGCTGAAGAGGAGGCTGAAAAGGAGCCCCAGGACTGG c.1320
A K E E A E E V A E E E A E K E P Q D W p.440
. . . . . | 17 . g.44246
GCGGAGACCAAGGAGGAGCCTGAGGCTGAGGCCGAGGCTGCCAGTTCAGGAG | TGCCTGCC c.1380
A E T K E E P E A E A E A A S S G V | P A p.460
. . . . . . g.44306
ACGAAACAGCACCCAGAAGTGCAGGTGGAAGATACTGATGCTGATAGCTGCCCCCTCATG c.1440
T K Q H P E V Q V E D T D A D S C P L M p.480
. . . . . . g.44366
GCAGAAGAGAATCCACCCTCAACCGTGTTGCCGCCACCGTCTCCTGCCAAATCAGACACC c.1500
A E E N P P S T V L P P P S P A K S D T p.500
. . . | 18 . . . g.52761
CTTATAGTCCCAAGCTCAGCCTCGGGGACACACAG | GAAGAAGCTGCCCTCTGAGGATGAT c.1560
L I V P S S A S G T H R | K K L P S E D D p.520
. . . . . . g.52821
GAGGCTGAAGAGCTCAAGGCGTTGTCACCAGCAGAGTCCCCAGTGGTTGCCTGGTCTGAC c.1620
E A E E L K A L S P A E S P V V A W S D p.540
. . | 19 . . . . g.55609
CCCACCACCCCGAAGGACACTGA | TGGCCAGGACCGTGCGGCCTCCACGGCCAGCACAAAT c.1680
P T T P K D T D | G Q D R A A S T A S T N p.560
. . . . . . g.55669
AGCGCCATCATCAACGACCGGCTCCAGGAGCTGGTGAAGCTCTTCAAGGAGCGGACAGAG c.1740
S A I I N D R L Q E L V K L F K E R T E p.580
. . . . . . g.55729
AAAGTGAAGGAGAAACTCATTGACCCTGACGTCACCTCTGATGAGGAGAGCCCCAAGCCC c.1800
K V K E K L I D P D V T S D E E S P K P p.600
| 20 . . . . . . g.56921
T | CCCCAGCCAAGAAAGCCCCAGAGCCAGCTCCAGACACAAAGCCCGCTGAAGCCGAGCCA c.1860
S | P A K K A P E P A P D T K P A E A E P p.620
. . . . . . g.56981
GTGGAAGAGGAGCACTATTGCGACATGCTCTGCTGCAAGTTCAAACACCGCCCCTGGAAG c.1920
V E E E H Y C D M L C C K F K H R P W K p.640
. . . | 21. . . g.58663
AAGTACCAGTTTCCCCAGAGCATTGACCCGCTGACCA | ACCTGATGTATGTCCTATGGCTG c.1980
K Y Q F P Q S I D P L T N | L M Y V L W L p.660
. . . . . . g.58723
TTCTTCGTGGTGATGGCCTGGAATTGGAACTGTTGGCTGATTCCCGTGCGCTGGGCCTTC c.2040
F F V V M A W N W N C W L I P V R W A F p.680
. . . . . . g.58783
CCCTACCAGACCCCGGACAACATCCACCACTGGCTGCTGATGGATTACCTATGCGACCTC c.2100
P Y Q T P D N I H H W L L M D Y L C D L p.700
. . . . . . g.58843
ATCTACTTCCTGGACATCACCGTGTTCCAGACACGCCTGCAGTTTGTCAGAGGCGGGGAC c.2160
I Y F L D I T V F Q T R L Q F V R G G D p.720
| 22 . . . . . | 23. g.60784
ATCATT | ACGGACAAAAAGGACATGCGAAATAACTACCTGAAGTCTCGCCGCTTCAAG | ATG c.2220
I I | T D K K D M R N N Y L K S R R F K | M p.740
. . . . . . g.60844
GACCTGCTCAGCCTCCTGCCCTTGGATTTTCTCTATTTGAAAGTCGGTGTGAACCCCCTC c.2280
D L L S L L P L D F L Y L K V G V N P L p.760
. . | 24 . . . . g.63158
CTCCGCCTGCCCCGCTGTTTAAAG | TACATGGCCTTCTTCGAGTTTAACAGCCGCCTGGAA c.2340
L R L P R C L K | Y M A F F E F N S R L E p.780
. . | 25 . . . g.64272
TCCATCCTCAGCAAAGCCTACGTGTACAG | GGTCATCAGGACCACAGCCTACCTTCTCTAC c.2400
S I L S K A Y V Y R | V I R T T A Y L L Y p.800
. . . . . . g.64332
AGCCTGCATTTGAATTCCTGTCTTTATTACTGGGCATCGGCCTATCAGGGCCTCGGCTCC c.2460
S L H L N S C L Y Y W A S A Y Q G L G S p.820
. . . | 26 . . . g.71269
ACTCACTGGGTTTACGATGGCGTGGGAAACAG | TTATATTCGCTGTTACTACTTTGCTGTG c.2520
T H W V Y D G V G N S | Y I R C Y Y F A V p.840
. . . . . . g.71329
AAGACCCTCATCACCATCGGGGGGCTGCCTGACCCCAAGACACTCTTTGAAATTGTCTTC c.2580
K T L I T I G G L P D P K T L F E I V F p.860
. . . . . | 27 . g.72141
CAGCTGCTGAATTATTTCACGGGCGTCTTTGCTTTCTCTGTGATGATCGGACAG | ATGAGA c.2640
Q L L N Y F T G V F A F S V M I G Q | M R p.880
. . . . . . g.72201
GATGTGGTAGGGGCCGCCACCGCCGGACAGACCTACTACCGCAGCTGCATGGACAGCACG c.2700
D V V G A A T A G Q T Y Y R S C M D S T p.900
. . . . . . g.72261
GTGAAGTACATGAATTTCTACAAGATCCCCAAGTCCGTGCAGAACCGCGTCAAGACCTGG c.2760
V K Y M N F Y K I P K S V Q N R V K T W p.920
. . . | 28 . . . g.74517
TACGAGTACACCTGGCACTCGCAAGGCATGCTGG | ATGAGTCAGAGCTGATGGTGCAGCTT c.2820
Y E Y T W H S Q G M L D | E S E L M V Q L p.940
. . . . . . g.74577
CCAGACAAGATGCGGCTGGACCTCGCCATCGACGTGAACTACAACATCGTTAGCAAAGTC c.2880
P D K M R L D L A I D V N Y N I V S K V p.960
. | 29 . . . . . g.74729
GCACTCTTTCAG | GGCTGTGACCGGCAGATGATCTTTGACATGCTGAAGAGGCTTCGCTCT c.2940
A L F Q | G C D R Q M I F D M L K R L R S p.980
. . . | 30 . . . g.78226
GTTGTCTACCTGCCCAACGACTATGTGTGCAAGAAG | GGGGAGATCGGCCGTGAGATGTAC c.3000
V V Y L P N D Y V C K K | G E I G R E M Y p.1000
. . . . . . g.78286
ATCATCCAGGCAGGGCAAGTGCAGGTCTTGGGCGGCCCTGATGGGAAATCTGTGCTGGTG c.3060
I I Q A G Q V Q V L G G P D G K S V L V p.1020
. . . | 31 . . . g.78598
ACGCTGAAAGCTGGATCTGTGTTTGGAGAAATAAG | CTTGCTGGCTGTTGGGGGCGGGAAC c.3120
T L K A G S V F G E I S | L L A V G G G N p.1040
. . . . . . g.78658
CGGCGCACGGCCAACGTGGTGGCGCACGGGTTTACCAACCTCTTCATCCTGGATAAGAAG c.3180
R R T A N V V A H G F T N L F I L D K K p.1060
. . . . . . g.78718
GACCTGAATGAGATTTTGGTGCATTATCCTGAGTCTCAGAAGTTACTCCGGAAGAAAGCC c.3240
D L N E I L V H Y P E S Q K L L R K K A p.1080
| 32 . . . . . . g.88100
AG | GCGCATGCTGAGAAGCAACAATAAGCCCAAGGAGGAGAAGAGCGTGCTGATCCTTCCA c.3300
R | R M L R S N N K P K E E K S V L I L P p.1100
. . . . . . g.88160
CCCCGGGCGGGCACCCCAAAGCTCTTCAACGCTGCCCTCGCTATGACAGGAAAGATGGGT c.3360
P R A G T P K L F N A A L A M T G K M G p.1120
. . . . . . g.88220
GGCAAGGGGGCAAAAGGCGGCAAACTTGCTCACCTCCGGGCCCGGCTCAAAGAACTGGCC c.3420
G K G A K G G K L A H L R A R L K E L A p.1140
. . . . | 33 . . g.91677
GCGCTGGAGGCGGCTGCAAAGCAGCAAGAGTTGGTGGAACAG | GCCAAGAGCTCGCAAGAC c.3480
A L E A A A K Q Q E L V E Q | A K S S Q D p.1160
. . . . . . g.91737
GTCAAGGGAGAGGAAGGCTCCGCCGCCCCAGACCAGCACACGCACCCAAAGGAGGCCGCC c.3540
V K G E E G S A A P D Q H T H P K E A A p.1180
. . . . . . g.91797
ACCGACCCACCCGCGCCCCGGACGCCCCCCGAGCCCCCGGGGTCTCCACCGAGCTCTCCA c.3600
T D P P A P R T P P E P P G S P P S S P p.1200
. . . . . . g.91857
CCGCCTGCCTCCCTTGGGAGGCCGGAGGGAGAGGAGGAGGGGCCGGCCGAGCCCGAAGAG c.3660
P P A S L G R P E G E E E G P A E P E E p.1220
. . . . . . g.91917
CACTCGGTGAGGATCTGCATGAGCCCGGGCCCGGAGCCGGGAGAGCAGATCCTGTCGGTG c.3720
H S V R I C M S P G P E P G E Q I L S V p.1240
. . . g.91953
AAGATGCCGGAGGAAAGGGAGGAGAAGGCGGAGTAA c.3756
K M P E E R E E K A E X p.1251
. . . . . . g.92013
ggtggggtgaggcggatcccgcgcgcagttccagcaggtgtgtccccagcgcccgctgcg c.*60
. . . . . . g.92073
cccctgcgccccagcgccccaccttcccccacggctcaagagaagatgcttttccgtagt c.*120
. . . . . . g.92133
cgtgacctcagtggctgcagctctgaccgtcccgccagcacgccagccccgactcagctc c.*180
. . . . . . g.92193
ctcgcggggctgggcctgagctcgacaagttgcatcaagtgttcgagtccctgagctctc c.*240
. . . . . . g.92253
actatcatttgagagccctaccttttcctgactgttcctctttttaagaacaaaatgatt c.*300
. . . . . . g.92313
ttccacttttaaagttcatgggtgagggataaaatgaggctccaatacatgggaagcttt c.*360
. . . . . . g.92373
gctgaaaaagtaaagtgttattgaatgtgtggggtttcccctcaggaatttgtctaacac c.*420
. . . . . . g.92433
atttcaaggatagaaaatacttcactgccgggcatggtggctcatgcctataatcccagt c.*480
. . . . . . g.92493
gctttgggaagccgaagcaggaggatcactggaggccaagagttggagagcagactgggc c.*540
. . . . . . g.92553
aacatagcgagacctcatctcaaacaaaaacaaaaacaaacaaaaaaacaatagccaggc c.*600
. . . . . . g.92613
gtgatggtgtgcacctgtagtcccagctactggagaggttgaggcaggaggatggcttga c.*660
. . . . . . g.92673
gcccaggagtttctggctgcagtgagctggacacagtgagaccctgtctcaaaaaaacta c.*720
. . . . . . g.92733
aaagatagccctgcacagtggttcacatctgcaatcccagcagtttgggaagctgagatg c.*780
. . . . . . g.92793
ggaggattgtttgagaccaggagttcaagaccagcctgggcaacatattgagaccccatc c.*840
. . . . . . g.92853
tctacaaaacagcagcagaaacaaaagcaaacaacaacaacgtacacaaacaaaaaaaca c.*900
. . . . . . g.92913
aagaaaggagggcagcccgagctgttcagctgagaattgccatggttctgagctgagctt c.*960
. . . . . . g.92973
gggacgcggttttcctttgcgggcaatcacagtagggggctagatgcccattaaggtagt c.*1020
. . . . . . g.93033
tagtgcttatcttccccagactctattcaattccaatgcaatgccattatctcagaacag c.*1080
. . . . . . g.93093
atagaagggaaatggacttactggccaggagctgctagcgtttctgcctctgccaggagg c.*1140
. . . . . . g.93153
aacagcccggtaggagcatcctctgcctgtcatcctgagaaaccccattcgccagcaggg c.*1200
. . . . . . g.93213
atcagtccgttactcacttttgacactctcgctgtagagatggtggcagcaacttcaatt c.*1260
. . . . . . g.93273
aatcctagaaaatgaaatctcccagctgatgacagcacttacattccctaaagctttcca c.*1320
. . . . . . g.93333
gatcgtgtcatgttgcttttatgattcagacaaaaaaaaaaaaagaaaaaagaaaaaaaa c.*1380
. . . . . . g.93393
agaaaaaagggtcattcagggaatgaatatttatcaagaggattttatttgcataccaaa c.*1440
. . . . . . g.93453
tggctcttgggggagtgagtgattaaaaacaaaatctagtattctagtattaggccattt c.*1500
. . . . . . g.93513
gtttccacctgcaacagtgaacataaaggacctggaattccaataggtcctgcccatttt c.*1560
. . . . . . g.93573
atataaaattacaggaaaatgtgagctgctcagaggcctttgaaggtttgcaaatgtctg c.*1620
. . . . . . g.93633
tatgtatttgtccatccactaaaaacaacattcatttccactgtggaaaaatgaaagaat c.*1680
. . . . . . g.93693
gtgggagtccccaggctggtctaagcatttccaaaccccagagtcagaaacagatttgtc c.*1740
. . . . . . g.93753
tagttgatggcttgtcacgtgatccgggtaatcatcacattgaatatagtgatgattgac c.*1800
. . g.93777
cttattattttaccctattttttt c.*1824
(downstream sequence)
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