(used for variant description)
(last modified August 18, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001142564.1 in the CNGA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009193.1, covering CNGA1 transcript NM_001142564.1.
(upstream sequence)
. . g.36432
aaatcagcatgtttattattt c.-121
. . . . . . g.36492
ttaaaaaattagggcctggattttgacaatgtcaagatttaccgtatatccctgtttgtt c.-61
. . . . . . g.36552
tggatacaccagtgacgtccacttctagaagacaaagttatattacttaaacaaccaaag c.-1
| 02 . . . . . . g.46904
| ATGGAGTCTCGCTCTTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAGT c.60
| M E S R S S P R L E C S G A I S A H C S p.20
. . . . . . g.46964
CTTCACCTCCCAGATTCAAGCGATTTCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGA c.120
L H L P D S S D F Q L I F V F L V E M G p.40
. . . . . . g.47024
TTTCACCATGTTGGCCAAGCTGGACTTGAACTCCTGATCTCAAGTGATCTGCCCACCTCA c.180
F H H V G Q A G L E L L I S S D L P T S p.60
. . | 03 . . . . g.65276
GCCTCCCAAAGTGCTGGTATTACAG | ATATGAAACTATCCATGAAGAACAATATTATCAAT c.240
A S Q S A G I T D | M K L S M K N N I I N p.80
. . . . . . g.65336
ACACAGCAGTCTTTTGTAACCATGCCCAATGTGATTGTACCAGATATTGAAAAGGAAATA c.300
T Q Q S F V T M P N V I V P D I E K E I p.100
. . | 04 . . . . g.66509
CGAAGGATGGAAAATGGAGCATGCAG | CTCCTTTTCTGAGGATGATGACAGTGCCTCTACA c.360
R R M E N G A C S | S F S E D D D S A S T p.120
. . . . . . g.66569
TCTGAAGAATCAGAGAATGAAAACCCTCATGCAAGGGGTTCCTTTAGTTATAAGTCACTC c.420
S E E S E N E N P H A R G S F S Y K S L p.140
. . | 05 . . . . g.68086
AGAAAGGGAGGACCATCACAGAG | GGAGCAGTACCTGCCTGGTGCCATTGCACTTTTTAAT c.480
R K G G P S Q R | E Q Y L P G A I A L F N p.160
. . | 06 . . . . g.74566
GTGAACAACAGCAGCAATAAGGACCA | GGAACCAGAAGAAAAAAAGAAAAAGAAAAAAGAA c.540
V N N S S N K D Q | E P E E K K K K K K E p.180
| 07 . . . . . g.74708
AAGAAGAG | CAAGTCAGATGATAAAAACGAAAATAAAAACGACCCAGAGAAGAAAAAGAAG c.600
K K S | K S D D K N E N K N D P E K K K K p.200
. . . . . | 08 . g.75800
AAAAAGGACAAAGAGAAGAAAAAGAAAGAGGAGAAAAGCAAAGATAAGAAAGAAGA | GGAG c.660
K K D K E K K K K E E K S K D K K E E | E p.220
. . . . . . g.75860
AAGAAAGAAGTTGTGGTTATTGATCCCTCGGGAAACACATATTACAACTGGCTGTTTTGC c.720
K K E V V V I D P S G N T Y Y N W L F C p.240
. . . . | 09 . . g.77091
ATCACATTACCTGTTATGTACAACTGGACAATGGTTATTGCCAG | AGCATGTTTTGATGAA c.780
I T L P V M Y N W T M V I A R | A C F D E p.260
. . . . . . g.77151
CTTCAATCTGATTACCTAGAATATTGGCTCATTTTGGATTACGTATCAGACATAGTCTAT c.840
L Q S D Y L E Y W L I L D Y V S D I V Y p.280
. . . | 10 . . . g.80144
TTAATCGATATGTTTGTACGAACAAGGACAG | GTTACCTAGAACAAGGACTGCTGGTAAAG c.900
L I D M F V R T R T G | Y L E Q G L L V K p.300
. . . . . . g.80204
GAAGAACTTAAACTCATAAATAAATATAAATCCAACTTGCAATTTAAACTTGATGTTCTG c.960
E E L K L I N K Y K S N L Q F K L D V L p.320
. . . . . . g.80264
TCACTGATACCAACTGATTTGCTGTATTTTAAGTTAGGGTGGAACTATCCAGAAATTAGA c.1020
S L I P T D L L Y F K L G W N Y P E I R p.340
. . . . . . g.80324
TTAAACAGGTTGTTACGGTTCTCTCGTATGTTTGAGTTCTTCCAGAGAACAGAAACAAGG c.1080
L N R L L R F S R M F E F F Q R T E T R p.360
. . . . . . g.80384
ACAAACTATCCAAACATCTTCAGGATTTCCAACCTTGTTATGTATATCGTCATCATTATC c.1140
T N Y P N I F R I S N L V M Y I V I I I p.380
. . . . . . g.80444
CACTGGAATGCATGTGTGTTCTACTCTATTTCTAAAGCTATTGGATTTGGAAATGATACA c.1200
H W N A C V F Y S I S K A I G F G N D T p.400
. . . . . . g.80504
TGGGTCTACCCTGATATTAATGATCCTGAATTTGGCCGTTTGGCTAGAAAATACGTATAC c.1260
W V Y P D I N D P E F G R L A R K Y V Y p.420
. . . . . . g.80564
AGCCTTTACTGGTCTACACTGACTTTGACTACCATTGGTGAAACACCCCCTCCCGTGAGG c.1320
S L Y W S T L T L T T I G E T P P P V R p.440
. . . . . . g.80624
GATTCTGAGTATGTCTTTGTGGTGGTTGATTTCCTAATTGGAGTGTTAATTTTTGCTACC c.1380
D S E Y V F V V V D F L I G V L I F A T p.460
. . . . . . g.80684
ATCGTTGGTAACATAGGTTCTATGATTTCCAACATGAATGCAGCCAGAGCAGAATTTCAA c.1440
I V G N I G S M I S N M N A A R A E F Q p.480
. . . . . . g.80744
GCAAGAATTGATGCTATCAAGCAATATATGCATTTTCGAAATGTAAGCAAAGATATGGAA c.1500
A R I D A I K Q Y M H F R N V S K D M E p.500
. . . . . . g.80804
AAGAGGGTTATTAAATGGTTTGACTACCTGTGGACCAACAAAAAAACAGTTGATGAGAAA c.1560
K R V I K W F D Y L W T N K K T V D E K p.520
. . . . . . g.80864
GAAGTCTTAAAGTATCTACCTGATAAACTAAGAGCAGAAATTGCCATCAACGTTCACTTA c.1620
E V L K Y L P D K L R A E I A I N V H L p.540
. . . . . . g.80924
GACACATTAAAAAAGGTACGCATTTTTGCTGATTGTGAAGCTGGTCTGTTGGTGGAGTTG c.1680
D T L K K V R I F A D C E A G L L V E L p.560
. . . . . . g.80984
GTCTTGAAATTGCAACCCCAAGTCTACAGTCCTGGAGATTATATTTGCAAGAAAGGGGAT c.1740
V L K L Q P Q V Y S P G D Y I C K K G D p.580
. . . . . . g.81044
ATCGGACGAGAGATGTACATTATCAAGGAAGGCAAACTCGCTGTGGTGGCAGATGATGGA c.1800
I G R E M Y I I K E G K L A V V A D D G p.600
. . . . . . g.81104
GTCACTCAGTTTGTGGTATTGAGCGATGGCAGCTACTTCGGTGAGATCAGCATTCTTAAC c.1860
V T Q F V V L S D G S Y F G E I S I L N p.620
. . . . . . g.81164
ATTAAAGGGAGCAAAGCTGGCAATCGAAGAACGGCCAATATTAAAAGTATTGGCTACTCA c.1920
I K G S K A G N R R T A N I K S I G Y S p.640
. . . . . . g.81224
GACCTGTTCTGTCTCTCAAAAGATGACCTCATGGAAGCTCTAACTGAGTACCCAGATGCC c.1980
D L F C L S K D D L M E A L T E Y P D A p.660
. . . . . . g.81284
AAAACTATGCTGGAAGAGAAAGGGAAGCAGATTTTAATGAAAGATGGTCTACTGGATCTA c.2040
K T M L E E K G K Q I L M K D G L L D L p.680
. . . . . . g.81344
AACATTGCAAATGCTGGCAGTGATCCTAAAGATCTTGAAGAGAAGGTTACTCGAATGGAG c.2100
N I A N A G S D P K D L E E K V T R M E p.700
. . . . . . g.81404
GGGTCAGTAGACCTCCTGCAAACCAGGTTTGCCCGAATCTTGGCTGAGTATGAGTCCATG c.2160
G S V D L L Q T R F A R I L A E Y E S M p.720
. . . . . . g.81464
CAGCAGAAACTGAAACAAAGATTAACCAAGGTTGAGAAATTTCTGAAACCGCTTATTGAC c.2220
Q Q K L K Q R L T K V E K F L K P L I D p.740
. . . . . . g.81524
ACAGAATTTTCAAGTATTGAGGGACCTGGAGCGGAAAGTGGGCCCATCGACTCTACATAG c.2280
T E F S S I E G P G A E S G P I D S T X p.759
. . . . . . g.81584
aaccgaaaagctggtcattaacagggacatgcctcatgatccttttgatcctatgactga c.*60
. . . . . . g.81644
catcaactaaaatttaaaagaagaggaagactcagttgggaaatttttccatgaggaaaa c.*120
. . . . . . g.81704
tgtgctttggtgcaaggtacaaggcccacaccctctctgagagatactatgattaaaaaa c.*180
. . . . . . g.81764
gctttatatcttgggatttttcacaactgataatgtgcaaagatataaactgattaactt c.*240
. . . . . . g.81824
gtcagtgtctgtattttctgattttttcacatacgctcattttatgtaatattcttcata c.*300
. . . . . . g.81884
aaaatgaataagtagccctcactttcatgccatttccattgttgagtgaagcgtatttga c.*360
. . . . . . g.81944
agtaactgagaattaccatgtacatcatatttgggataacatttttaaaaattagactgc c.*420
. . g.81968
aataaagtaaaattaattatgcaa c.*444
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 24
©2004-2020 Leiden University Medical Center