(used for variant description)
(last modified February 27, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_005183.2 in the CACNA1F gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009095.1, covering CACNA1F transcript NM_005183.2.
(upstream sequence)
g.5002
ct c.-61
. . . . . . g.5062
ccaaagctgggggaagagaggggggttgtgtgcagatggcccttcaatctcgaaagaaag c.-1
. . | 02 . . . . g.6479
ATGTCGGAATCTGAAGGCGGGAAAG | ACACCACCCCAGAGCCCAGTCCAGCCAATGGGGCA c.60
M S E S E G G K D | T T P E P S P A N G A p.20
. . . . . . g.6539
GGCCCTGGTCCCGAATGGGGGCTGTGCCCCGGGCCCCCAGCTGTGGAAGGTGAAAGCAGT c.120
G P G P E W G L C P G P P A V E G E S S p.40
. . . . . . g.6599
GGGGCATCAGGCCTAGGGACCCCTAAGCGAAGAAACCAGCACAGCAAGCACAAGACAGTG c.180
G A S G L G T P K R R N Q H S K H K T V p.60
. . . . . . g.6659
GCAGTGGCCAGTGCCCAGCGGTCACCTCGGGCACTCTTCTGCCTCACCCTGGCCAATCCT c.240
A V A S A Q R S P R A L F C L T L A N P p.80
. . . | 03 . . . g.7089
CTGCGACGGTCCTGCATCAGCATCGTGGAGTGGAA | GCCCTTCGACATCCTCATCCTGCTG c.300
L R R S C I S I V E W K | P F D I L I L L p.100
. . . . . . g.7149
ACCATCTTTGCCAACTGCGTGGCCCTGGGAGTTTACATCCCCTTCCCTGAGGACGACTCC c.360
T I F A N C V A L G V Y I P F P E D D S p.120
. . | 04 . . . . g.7421
AACACTGCCAACCACAACCTG | GAGCAGGTGGAGTACGTATTCCTGGTGATTTTCACTGTG c.420
N T A N H N L | E Q V E Y V F L V I F T V p.140
. . . . . . g.7481
GAGACGGTGCTCAAGATCGTGGCCTACGGGCTGGTGCTCCACCCCAGCGCCTACATCCGC c.480
E T V L K I V A Y G L V L H P S A Y I R p.160
. . . . | 05 . . g.7781
AATGGCTGGAACCTACTCGACTTCATCATCGTCGTGGTCGG | GCTGTTCAGCGTTCTGCTG c.540
N G W N L L D F I I V V V G | L F S V L L p.180
. . . . . . g.7841
GAGCAGGGCCCCGGACGGCCAGGCGACGCCCCGCACACCGGGGGAAAGCCAGGAGGCTTC c.600
E Q G P G R P G D A P H T G G K P G G F p.200
. . . . . . g.7901
GATGTGAAGGCATTGAGGGCGTTTCGGGTGCTGCGGCCACTGAGGCTGGTGTCTGGGGTC c.660
D V K A L R A F R V L R P L R L V S G V p.220
| 06 . . . . . . g.8055
CCGA | GCCTGCACATAGTGCTCAATTCCATCATGAAGGCTCTGGTGCCGCTGCTGCACATT c.720
P S | L H I V L N S I M K A L V P L L H I p.240
. . . . . . g.8115
GCACTGCTCGTGCTCTTCGTCATCATCATTTATGCCATCATTGGGCTCGAGCTGTTCCTT c.780
A L L V L F V I I I Y A I I G L E L F L p.260
. . . | 07. . . g.9947
GGACGAATGCACAAGACGTGCTACTTCCTGGGATCCG | ACATGGAAGCGGAGGAGGACCCA c.840
G R M H K T C Y F L G S D | M E A E E D P p.280
. . . . . . g.10007
TCGCCCTGTGCGTCTTCGGGATCAGGGCGTGCGTGCACGCTGAACCAGACTGAGTGCCGC c.900
S P C A S S G S G R A C T L N Q T E C R p.300
. . . . . . g.10067
GGGCGCTGGCCAGGGCCCAATGGAGGCATCACCAACTTTGACAACTTCTTCTTCGCCATG c.960
G R W P G P N G G I T N F D N F F F A M p.320
. . . . . | 08 . g.10238
CTGACAGTCTTCCAGTGTGTCACCATGGAAGGCTGGACCGATGTGCTCTACTGG | ATGCAA c.1020
L T V F Q C V T M E G W T D V L Y W | M Q p.340
. . . . . . g.10298
GATGCCATGGGGTATGAACTGCCCTGGGTGTACTTTGTGAGCCTTGTCATCTTTGGGTCC c.1080
D A M G Y E L P W V Y F V S L V I F G S p.360
. . . | 09 . . g.11266
TTCTTCGTCCTCAACCTTGTGCTTGGCGTCCTGAGTGG | GGAGTTCTCCAAGGAGAGAGAG c.1140
F F V L N L V L G V L S G | E F S K E R E p.380
. . . . . . g.11326
AAAGCGAAAGCTCGCGGGGACTTCCAGAAGCAGCGGGAGAAGCAGCAGATGGAGGAAGAC c.1200
K A K A R G D F Q K Q R E K Q Q M E E D p.400
. . . . . . g.11386
CTGCGGGGCTACCTGGACTGGATCACTCAAGCCGAAGAGCTGGACATGGAGGACCCCTCC c.1260
L R G Y L D W I T Q A E E L D M E D P S p.420
. . . . | 10 . g.11680
GCCGATGACAACCTTGGTTCTATGGCTGAAGAGGGCCGGGCGGGCCATC | GGCCACAGCTG c.1320
A D D N L G S M A E E G R A G H R | P Q L p.440
. . . . . . g.11740
GCCGAGCTGACCAATAGGAGGCGTGGACGTCTGCGCTGGTTCAGTCATTCTACTCGCTCC c.1380
A E L T N R R R G R L R W F S H S T R S p.460
. . | 11 . . . . g.11907
ACACACTCCACCAGCAGCCATG | CCAGCCTCCCAGCCAGTGACACCGGTTCCATGACAGAG c.1440
T H S T S S H A | S L P A S D T G S M T E p.480
. . . . . | 12 . g.12132
ACCCAAGGCGATGAGGATGAGGAGGAGGGGGCTCTGGCCAGCTGTACACGCTGCCT | AAAC c.1500
T Q G D E D E E E G A L A S C T R C L | N p.500
. . | 13 . . . . g.12339
AAGATCATGAAAACCAGAGTCTG | CCGCCGCCTCCGCCGAGCCAACCGGGTCCTTCGGGCA c.1560
K I M K T R V C | R R L R R A N R V L R A p.520
. . . . . . g.12399
CGCTGCCGTCGGGCAGTGAAGTCCAATGCCTGCTACTGGGCTGTGCTGTTGCTCGTCTTC c.1620
R C R R A V K S N A C Y W A V L L L V F p.540
. . . . . . g.12459
CTCAACACGTTGACCATCGCCTCTGAGCACCACGGGCAGCCTGTGTGGCTCACCCAGATC c.1680
L N T L T I A S E H H G Q P V W L T Q I p.560
| 14 . . . . . . g.13441
CAGG | AGTATGCCAACAAAGTGTTGCTCTGTCTGTTCACGGTGGAGATGCTTCTCAAATTG c.1740
Q E | Y A N K V L L C L F T V E M L L K L p.580
. . . . . . g.13501
TACGGTCTGGGCCCCTCTGCCTATGTGTCTTCCTTCTTCAACCGCTTTGACTGCTTTGTG c.1800
Y G L G P S A Y V S S F F N R F D C F V p.600
. . . . . . g.13561
GTCTGTGGGGGCATCCTAGAGACCACCTTGGTGGAGGTGGGCGCCATGCAGCCCTTGGGC c.1860
V C G G I L E T T L V E V G A M Q P L G p.620
. . . . . | 15 . g.15248
ATCTCAGTGCTCCGATGTGTGCGCCTCCTCAGGATCTTTAAGGTCACCAG | ACACTGGGCT c.1920
I S V L R C V R L L R I F K V T R | H W A p.640
. . . . . . g.15308
TCTCTGAGCAATCTGGTGGCATCCCTGCTCAATTCAATGAAATCCATCGCATCCTTGCTG c.1980
S L S N L V A S L L N S M K S I A S L L p.660
. . . . . . g.15368
CTTCTCCTCTTCCTCTTCATCATTATCTTCTCCCTGCTTGGCATGCAGCTGTTTGGGGGC c.2040
L L L F L F I I I F S L L G M Q L F G G p.680
. . . . . . g.15428
AAGTTCAACTTTGACCAGACCCACACCAAGCGAAGCACCTTTGACACGTTCCCCCAGGCC c.2100
K F N F D Q T H T K R S T F D T F P Q A p.700
. | 16 . . . . g.15578
CTCCTCACTGTCTTTCAG | ATCCTGACAGGTGAGGACTGGAACGTGGTCATGTATGATGGT c.2160
L L T V F Q | I L T G E D W N V V M Y D G p.720
. . . . . . g.15638
ATCATGGCATATGGTGGCCCCTTCTTCCCAGGAATGTTGGTGTGCATCTATTTCATCATT c.2220
I M A Y G G P F F P G M L V C I Y F I I p.740
. | 17 . . . . g.15812
CTCTTCATCTGTGGCAACT | ACATCCTGTTGAACGTGTTTCTTGCCATTGCTGTGGACAAC c.2280
L F I C G N Y | I L L N V F L A I A V D N p.760
. . . . | 18 . . g.17313
CTGGCCAGTGGAGATGCAGGCACTGCCAAGGACAAGGGCGG | GGAGAAGAGCAATGAGAAG c.2340
L A S G D A G T A K D K G G | E K S N E K p.780
. . | 19. . . . g.17883
GATCTCCCACAGGAGAATGAAGGCCTG | GTGCCTGGTGTGGAGAAAGAGGAAGAGGAGGGT c.2400
D L P Q E N E G L | V P G V E K E E E E G p.800
. | 20 . . . . g.18625
GCAAGGAGGGAAGGAGCAG | ACATGGAGGAGGAGGAGGAGGAGGAAGAAGAGGAAGAAGAG c.2460
A R R E G A D | M E E E E E E E E E E E E p.820
. . . . . . g.18685
GAAGAAGAGGAAGAGGGTGCAGGGGGTGTGGAACTCCTGCAGGAAGTTGTACCCAAGGAG c.2520
E E E E E G A G G V E L L Q E V V P K E p.840
. . . . . | 21 . g.18928
AAGGTGGTACCCATCCCTGAGGGCAGCGCCTTCTTCTGCCTCAGCCAAACCAACCC | GCTG c.2580
K V V P I P E G S A F F C L S Q T N P | L p.860
. . . . . . g.18988
AGGAAGGGCTGCCACACCCTCATCCACCATCATGTCTTCACCAATCTTATCCTGGTGTTC c.2640
R K G C H T L I H H H V F T N L I L V F p.880
. . . . . . g.19048
ATCATCCTCAGCAGTGTGTCCCTGGCCGCTGAGGACCCCATCCGAGCCCACTCCTTCCGC c.2700
I I L S S V S L A A E D P I R A H S F R p.900
| 22 . . . . . . g.19487
AACCAT | ATTCTGGGTTACTTCGATTATGCCTTCACCTCCATTTTCACTGTGGAGATTCTA c.2760
N H | I L G Y F D Y A F T S I F T V E I L p.920
| 23 . . . . . . g.19693
CTAAAG | ATGACAGTGTTTGGGGCCTTCCTGCACCGCGGCTCCTTCTGCCGTAGCTGGTTT c.2820
L K | M T V F G A F L H R G S F C R S W F p.940
. . . . . | 24 . g.19839
AATATGTTGGATCTGCTGGTGGTCAGTGTGTCCCTCATCTCCTTTGGCATCCA | CTCCAGC c.2880
N M L D L L V V S V S L I S F G I H | S S p.960
. . . . . . g.19899
GCCATCTCGGTGGTGAAGATTCTGCGAGTACTCCGAGTACTGCGGCCCCTCCGAGCCATC c.2940
A I S V V K I L R V L R V L R P L R A I p.980
. . | 25 . . . . g.20408
AACAGGGCCAAGGGACTCAAG | CATGTGGTGCAGTGTGTATTTGTGGCCATCCGGACCATC c.3000
N R A K G L K | H V V Q C V F V A I R T I p.1000
. . . . . . g.20468
GGAAACATCATGATTGTCACCACACTTCTGCAATTTATGTTCGCCTGCATCGGGGTGCAG c.3060
G N I M I V T T L L Q F M F A C I G V Q p.1020
| 26 . . . . . g.20618
CTCTTCAAG | GGGAAATTCTACACCTGCACGGACGAGGCCAAACACACCCCTCAAGAATGC c.3120
L F K | G K F Y T C T D E A K H T P Q E C p.1040
| 27 . . . . . . g.21903
AA | GGGCTCCTTCCTGGTATACCCAGATGGAGACGTGTCACGGCCCCTGGTCCGGGAGCGG c.3180
K | G S F L V Y P D G D V S R P L V R E R p.1060
. . . . . . g.21963
CTCTGGGTCAACAGTGATTTCAACTTTGACAATGTCCTTTCAGCCATGATGGCCCTGTTC c.3240
L W V N S D F N F D N V L S A M M A L F p.1080
. . | 28 . . . g.22861
ACTGTCTCCACCTTTGAAGGCTGGCCTGC | ACTGCTATACAAGGCCATCGATGCATATGCA c.3300
T V S T F E G W P A | L L Y K A I D A Y A p.1100
. . . . . . g.22921
GAGGACCATGGCCCCATCTATAATTACCGTGTGGAGATCTCAGTGTTCTTCATTGTCTAC c.3360
E D H G P I Y N Y R V E I S V F F I V Y p.1120
. . . . . . g.22981
ATCATCATCATTGCGTTCTTCATGATGAACATCTTCGTGGGCTTCGTCATCATCACTTTC c.3420
I I I I A F F M M N I F V G F V I I T F p.1140
. . . . . | 29 . g.23138
CGTGCCCAGGGCGAGCAGGAGTACCAAAACTGTGAGCTGGACAAGAACCAG | CGTCAATGT c.3480
R A Q G E Q E Y Q N C E L D K N Q | R Q C p.1160
. . . . . . g.23198
GTGGAATATGCCCTCAAGGCCCAGCCACTCCGCCGTTACATCCCCAAGAACCCGCATCAG c.3540
V E Y A L K A Q P L R R Y I P K N P H Q p.1180
. . . . . . g.23258
TATCGTGTGTGGGCCACTGTGAACTCTGCTGCCTTTGAGTACCTGATGTTCCTGCTCATC c.3600
Y R V W A T V N S A A F E Y L M F L L I p.1200
. . . | 30 . . . g.24134
CTGCTCAACACAGTTGCCCTAGCCATGCAG | CACTATGAGCAGACTGCTCCCTTCAACTAT c.3660
L L N T V A L A M Q | H Y E Q T A P F N Y p.1220
. . . . . . g.24194
GCCATGGACATCCTCAACATGGTCTTCACTGGCCTCTTCACTATTGAGATGGTGCTCAAA c.3720
A M D I L N M V F T G L F T I E M V L K p.1240
. . | 31 . . . . g.24510
ATCATCGCCTTCAAGCCCAAG | CATTACTTCACTGATGCCTGGAACACGTTTGACGCTCTT c.3780
I I A F K P K | H Y F T D A W N T F D A L p.1260
. . . . | 32 . . g.25394
ATTGTGGTGGGCAGCATAGTGGATATTGCCGTCACTGAAGTCAAT | AATGGTGGCCACCTT c.3840
I V V G S I V D I A V T E V N | N G G H L p.1280
| 33 . . . . . . g.25632
GGCGAG | AGCTCTGAGGACAGCTCCCGCATTTCCATTACCTTCTTTCGCCTCTTCCGAGTT c.3900
G E | S S E D S S R I S I T F F R L F R V p.1300
. . . . . . g.25692
ATGCGGCTGGTCAAGCTTCTCAGTAAGGGTGAAGGGATCCGCACATTGCTCTGGACATTC c.3960
M R L V K L L S K G E G I R T L L W T F p.1320
. | 34 . . . . . g.26110
ATCAAGTCCTTCCAG | GCCTTGCCCTATGTGGCTCTTCTCATCGCAATGATATTCTTCATC c.4020
I K S F Q | A L P Y V A L L I A M I F F I p.1340
. . | 35 . . . . g.26423
TATGCCGTCATTGGCATGCAG | ATGTTCGGCAAGGTGGCTCTTCAGGATGGCACACAGATA c.4080
Y A V I G M Q | M F G K V A L Q D G T Q I p.1360
. . . . . | 36 . g.26899
AACCGAAACAACAACTTCCAGACCTTTCCACAGGCTGTGCTGCTTCTGTTCAG | GTGTGCC c.4140
N R N N N F Q T F P Q A V L L L F R | C A p.1380
. . . . . . g.26959
ACTGGTGAGGCATGGCAGGAGATAATGCTTGCCAGCCTTCCCGGAAATCGGTGTGATCCT c.4200
T G E A W Q E I M L A S L P G N R C D P p.1400
. . . . . . g.27019
GAGTCTGACTTCGGCCCTGGTGAAGAGTTTACCTGTGGTAGCAATTTTGCCATCGCCTAT c.4260
E S D F G P G E E F T C G S N F A I A Y p.1420
. . . | 37 . . . g.27308
TTCATCAGCTTCTTCATGCTCTGTGCCTTCCTG | ATCATAAATCTCTTTGTGGCTGTGATC c.4320
F I S F F M L C A F L | I I N L F V A V I p.1440
. . . . . . g.27368
ATGGACAACTTTGATTATCTCACCAGAGATTGGTCCATCCTGGGCCCCCATCACCTTGAT c.4380
M D N F D Y L T R D W S I L G P H H L D p.1460
. . . . | 38 . . g.27706
GAATTCAAGAGGATCTGGTCTGAATATGACCCTGGGGCCAA | GGGCCGCATCAAACACTTG c.4440
E F K R I W S E Y D P G A K | G R I K H L p.1480
. . . . . . g.27766
GATGTGGTTGCCCTGCTGAGACGTATCCAGCCCCCTCTGGGATTTGGGAAGCTGTGCCCA c.4500
D V V A L L R R I Q P P L G F G K L C P p.1500
. | 39 . . . . g.28012
CACCGAGTGGCCTGCAAG | AGACTTGTGGCAATGAACATGCCCCTCAACTCAGATGGGACG c.4560
H R V A C K | R L V A M N M P L N S D G T p.1520
. . . . . . g.28072
GTGACATTCAACGCCACACTCTTTGCCCTGGTCCGGACATCCCTGAAGATCAAAACAGAA c.4620
V T F N A T L F A L V R T S L K I K T E p.1540
| 40 . . . . . . g.28390
G | GGAACCTGGAGCAAGCCAACCAGGAGCTGCGGATTGTCATCAAAAAGATCTGGAAGCGG c.4680
G | N L E Q A N Q E L R I V I K K I W K R p.1560
. . . . | 41 . . g.28631
ATGAAACAGAAGCTGCTAGATGAGGTCATCCCCCCACCAGACG | AGGAGGAGGTCACCGTG c.4740
M K Q K L L D E V I P P P D E | E E V T V p.1580
. . . . . . g.28691
GGCAAATTCTACGCCACATTTCTGATCCAGGACTATTTCCGCAAATTCCGGCGGAGGAAA c.4800
G K F Y A T F L I Q D Y F R K F R R R K p.1600
. . . . . | 42 . g.28986
GAAAAAGGGCTACTAGGCAACGACGCCGCCCCTAGCACCTCTTCCGCCCTTCAG | GCTGGT c.4860
E K G L L G N D A A P S T S S A L Q | A G p.1620
. . . . . . g.29046
CTGCGGAGCCTGCAGGACTTGGGTCCTGAGATGCGGCAGGCCCTCACCTGTGACACAGAG c.4920
L R S L Q D L G P E M R Q A L T C D T E p.1640
. . . . . . g.29106
GAGGAGGAAGAAGAGGGGCAGGAGGGAGTGGAGGAGGAAGATGAAAAGGACTTGGAAACT c.4980
E E E E E G Q E G V E E E D E K D L E T p.1660
| 43 . . . . . . g.29743
AACAAA | GCCACGATGGTCTCCCAGCCCTCAGCTCGCCGGGGCTCCGGGATTTCTGTGTCT c.5040
N K | A T M V S Q P S A R R G S G I S V S p.1680
. . . . . . g.29803
CTGCCTGTCGGGGACAGACTTCCAGATTCACTCTCCTTTGGGCCCAGTGATGATGACAGG c.5100
L P V G D R L P D S L S F G P S D D D R p.1700
. . . . . | 44 . g.31264
GGGACTCCCACCTCCAGTCAGCCCAGTGTGCCCCAGGCTGGATCCAACACCCACAG | GAGA c.5160
G T P T S S Q P S V P Q A G S N T H R | R p.1720
. . . . . . g.31324
GGCTCTGGGGCTCTCATTTTCACCATCCCAGAAGAAGGAAATTCTCAGCCCAAGGGAACC c.5220
G S G A L I F T I P E E G N S Q P K G T p.1740
. . . . | 45 . . g.31533
AAAGGGCAAAACAAGCAAGATGAGGATGAGGAAGTCCCTGATCG | GCTTTCCTACCTAGAT c.5280
K G Q N K Q D E D E E V P D R | L S Y L D p.1760
. . . . . . g.31593
GAGCAGGCAGGGACTCCCCCGTGCTCAGTCCTTTTGCCACCTCACAGAGCTCAGAGATAC c.5340
E Q A G T P P C S V L L P P H R A Q R Y p.1780
. . . . . | 46 . g.31757
ATGGATGGGCACCTGGTACCACGCCGCCGTCTGCTGCCCCCCACACCTGCAG | GTCGGAAG c.5400
M D G H L V P R R R L L P P T P A G | R K p.1800
. . . . . . g.31817
CCCTCCTTCACCATCCAGTGTCTGCAGCGCCAGGGCAGTTGTGAGGATTTACCCATCCCA c.5460
P S F T I Q C L Q R Q G S C E D L P I P p.1820
. . . . | 47 . . g.32575
GGCACCTATCATCGTGGGCGAAATTCAGGGCCCAATAGGGCTCAG | GGTTCCTGGGCAACA c.5520
G T Y H R G R N S G P N R A Q | G S W A T p.1840
. . . . . . g.32635
CCACCTCAGCGGGGTCGGCTCCTGTATGCCCCGCTGTTGTTGGTGGAAGAGGGCGCAGCG c.5580
P P Q R G R L L Y A P L L L V E E G A A p.1860
. . . . . . g.32695
GGGGAGGGGTACCTCGGCAGATCCAGTGGCCCACTGCGCACCTTCACCTGTCTGCACGTG c.5640
G E G Y L G R S S G P L R T F T C L H V p.1880
. . . . . . g.32755
CCTGGAACCCACTCGGACCCCAGCCATGGGAAGAGGGGCAGTGCCGACAGCTTGGTGGAG c.5700
P G T H S D P S H G K R G S A D S L V E p.1900
| 48 . . . . . . g.33063
GCT | GTGCTTATCTCAGAGGGTCTGGGCCTCTTTGCTCGAGACCCACGTTTCGTGGCCCTG c.5760
A | V L I S E G L G L F A R D P R F V A L p.1920
. . . . . . g.33123
GCCAAGCAGGAGATTGCAGATGCGTGTCGCCTGACGCTGGATGAGATGGACAATGCTGCC c.5820
A K Q E I A D A C R L T L D E M D N A A p.1940
. . . . . . g.33183
AGTGACCTGCTGGCACAGGGAACCAGCTCTCTCTATAGCGACGAGGAGTCCATCCTCTCC c.5880
S D L L A Q G T S S L Y S D E E S I L S p.1960
. . . . . g.33237
CGCTTCGATGAGGAGGACTTGGGAGACGAGATGGCCTGCGTCCACGCCCTCTGA c.5934
R F D E E D L G D E M A C V H A L X p.1977
. . . . . . g.33297
attcccacccctccccaactgctcaataaacctcctgccctcccctccccagcaggaggc c.*60
. g.33311
aggcatggaccaca c.*74
(downstream sequence)
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