(used for variant description)
(last modified October 12, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_000069.2 in the CACNA1S gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering CACNA1S transcript NM_000069.2.
(upstream sequence)
. . . . g.5047
tcaggcccggcagcggggagccgagtggaggctaattttacttgctg c.-181
. . . . . . g.5107
ggagcgaggagagtaatcctcctgcccccactcctgcccccgccccctggctggctcagc c.-121
. . . . . . g.5167
agggcaggctcagccgacagcctcagccagcctagtccccaaggcgggggcattggggac c.-61
. . . . . . g.5227
acagggaagggaaagcactggggtgggggagcaggagaaagccagattcccagggaagcc c.-1
. . . . . . g.5287
ATGGAGCCATCCTCACCCCAGGATGAAGGCCTGAGGAAGAAACAGCCCAAGAAGCCAGTT c.60
M E P S S P Q D E G L R K K Q P K K P V p.20
. . . . . . g.5347
CCTGAGATTCTGCCAAGGCCACCCCGGGCCTTGTTCTGCCTGACCCTGGAGAACCCCCTG c.120
P E I L P R P P R A L F C L T L E N P L p.40
. . . | 02 . . . g.7325
AGGAAGGCCTGCATCAGCATTGTAGAATGGAA | GCCCTTCGAGACGATCATCTTGCTCACC c.180
R K A C I S I V E W K | P F E T I I L L T p.60
. . . . . . g.7385
ATCTTTGCCAATTGTGTGGCCCTGGCCGTGTACCTGCCCATGCCGGAAGATGACAACAAC c.240
I F A N C V A L A V Y L P M P E D D N N p.80
. | 03 . . . . g.23587
TCTCTGAACCTCGGCCTG | GAGAAGCTGGAGTATTTCTTCCTCATTGTCTTCTCGATTGAA c.300
S L N L G L | E K L E Y F F L I V F S I E p.100
. . . . . . g.23647
GCCGCCATGAAGATCATTGCCTACGGCTTCTTATTCCACCAGGACGCTTACCTGCGCAGT c.360
A A M K I I A Y G F L F H Q D A Y L R S p.120
. . . | 04 . . g.25474
GGCTGGAATGTGCTGGACTTCACCATTGTCTTCCTGGG | GGTCTTCACCGTGATTCTGGAA c.420
G W N V L D F T I V F L G | V F T V I L E p.140
. . . . . . g.25534
CAGGTTAACGTCATCCAAAGCCACACAGCCCCAATGAGCAGCAAAGGAGCCGGCTTGGAT c.480
Q V N V I Q S H T A P M S S K G A G L D p.160
. . . . . . g.25594
GTCAAGGCCCTCAGAGCCTTCCGAGTGCTCAGACCCCTCCGGCTGGTGTCGGGGGTGCCT c.540
V K A L R A F R V L R P L R L V S G V P p.180
| 05 . . . . . . g.25833
A | GCCTGCAGGTGGTCCTGAACTCCATCTTCAAGGCCATGCTCCCCCTCTTTCACATCGCC c.600
S | L Q V V L N S I F K A M L P L F H I A p.200
. . . . . . g.25893
CTGCTGGTCCTCTTTATGGTCATCATCTATGCCATCATCGGGCTGGAGCTCTTCAAGGGC c.660
L L V L F M V I I Y A I I G L E L F K G p.220
. . . | 06 . . . g.28129
AAGATGCACAAGACCTGCTACTTCATTGGTACAG | ATATCGTGGCCACGGTGGAGAATGAA c.720
K M H K T C Y F I G T D | I V A T V E N E p.240
. . . . . . g.28189
GAGCCATCGCCCTGCGCCAGGACGGGCTCAGGGCGCCGGTGCACCATCAATGGCAGTGAG c.780
E P S P C A R T G S G R R C T I N G S E p.260
. . . . . . g.28249
TGCCGGGGCGGCTGGCCAGGGCCCAACCATGGCATCACCCACTTCGACAACTTCGGCTTC c.840
C R G G W P G P N H G I T H F D N F G F p.280
. . . . . . g.28309
TCCATGCTCACCGTGTACCAGTGCATTACCATGGAGGGATGGACTGACGTCCTTTACTGG c.900
S M L T V Y Q C I T M E G W T D V L Y W p.300
| 07 . . . . . . g.29697
| GTCAATGATGCCATCGGGAATGAGTGGCCCTGGATCTATTTTGTCACCCTCATTTTGCTG c.960
| V N D A I G N E W P W I Y F V T L I L L p.320
. . . . | 08 . . g.32001
GGATCCTTCTTCATCCTCAACCTGGTGCTGGGTGTCCTGAGTGG | GGAATTCACCAAGGAG c.1020
G S F F I L N L V L G V L S G | E F T K E p.340
. . . . . . g.32061
CGGGAGAAGGCCAAGTCCAGGGGAACCTTCCAGAAGCTCCGGGAGAAGCAGCAACTAGAT c.1080
R E K A K S R G T F Q K L R E K Q Q L D p.360
. . . . . . g.32121
GAGGACCTTCGGGGCTACATGAGCTGGATCACGCAGGGCGAGGTCATGGATGTTGAGGAC c.1140
E D L R G Y M S W I T Q G E V M D V E D p.380
. | 09 . . . . . g.32585
TTCAGAGAAG | GAAAACTGTCTTTGGATGAAGGTGGCTCTGACACAGAGAGCCTGTATGAA c.1200
F R E G | K L S L D E G G S D T E S L Y E p.400
. . . | 10 . . . g.34272
ATTGCAGGCTTGAACAAAATCATCCAGTTCAT | CCGACATTGGAGGCAGTGGAACCGCATC c.1260
I A G L N K I I Q F I | R H W R Q W N R I p.420
. . . . . . g.34332
TTTCGCTGGAAGTGCCATGACATCGTGAAGTCCAAGGTCTTCTATTGGCTGGTGATTCTC c.1320
F R W K C H D I V K S K V F Y W L V I L p.440
. . . . . . g.34392
ATCGTTGCCCTCAACACCCTGTCTATCGCCTCAGAGCACCACAACCAGCCTCTCTGGCTG c.1380
I V A L N T L S I A S E H H N Q P L W L p.460
. | 11 . . . . . g.39509
ACCCGTTTGCAAG | ACATTGCCAACCGGGTGCTGCTGTCCCTCTTCACCACTGAGATGCTG c.1440
T R L Q D | I A N R V L L S L F T T E M L p.480
. . . . . . g.39569
ATGAAGATGTACGGGCTGGGCCTGCGCCAGTACTTCATGTCTATCTTCAACCGCTTCGAC c.1500
M K M Y G L G L R Q Y F M S I F N R F D p.500
. . . . . . g.39629
TGCTTCGTGGTGTGTAGCGGTATCCTGGAGATCCTGCTGGTGGAGTCGGGTGCCATGACA c.1560
C F V V C S G I L E I L L V E S G A M T p.520
. . . . . | 12 g.40440
CCCCTGGGCATCTCCGTGCTCCGCTGCATCCGCCTCCTGAGGATCTTCAAGATCACCAA | A c.1620
P L G I S V L R C I R L L R I F K I T K | p.540
. . . . . . g.40500
TATTGGACGTCGCTGAGCAACCTGGTGGCATCCCTGCTCAACTCCATCCGCTCCATCGCC c.1680
Y W T S L S N L V A S L L N S I R S I A p.560
. . . . . . g.40560
TCCCTGCTGCTGCTGCTCTTCCTCTTCATCGTCATCTTCGCCCTCCTGGGCATGCAGCTC c.1740
S L L L L L F L F I V I F A L L G M Q L p.580
. . . . . . g.40620
TTTGGGGGGAGGTATGACTTTGAAGACACAGAAGTACGGCGCAGCAACTTTGACAACTTT c.1800
F G G R Y D F E D T E V R R S N F D N F p.600
. . | 13. . . . g.41984
CCCCAAGCCCTCATCAGCGTCTTCCAG | GTACTGACAGGGGAAGACTGGACCTCAATGATG c.1860
P Q A L I S V F Q | V L T G E D W T S M M p.620
. . . . . . g.42044
TACAATGGGATCATGGCCTACGGCGGGCCGTCCTACCCTGGCATGCTTGTGTGCATTTAC c.1920
Y N G I M A Y G G P S Y P G M L V C I Y p.640
. . | 14 . . . g.42978
TTCATCATCCTTTTCGTCTGTGGCAACT | ACATCCTGCTCAATGTCTTCCTGGCCATTGCC c.1980
F I I L F V C G N Y | I L L N V F L A I A p.660
. . . . . . g.43038
GTGGACAACCTGGCCGAGGCGGAGAGCCTGACTTCTGCCCAGAAGGCCAAGGCTGAGGAG c.2040
V D N L A E A E S L T S A Q K A K A E E p.680
. . | 15 . . . . g.43961
AAAAAACGCAGGAAGATGTCCAA | GGGTCTCCCAGACAAGTCAGAAGAGGAGAAGTCAACG c.2100
K K R R K M S K | G L P D K S E E E K S T p.700
. . . . . | 16. g.44745
ATGGCCAAGAAGCTGGAGCAGAAACCCAAGGGTGAGGGCATCCCCACCACTGCCAAG | CTG c.2160
M A K K L E Q K P K G E G I P T T A K | L p.720
. . . . . . g.44805
AAAATCGATGAGTTTGAATCTAATGTCAATGAGGTGAAGGATCCCTACCCCTCAGCCGAC c.2220
K I D E F E S N V N E V K D P Y P S A D p.740
| 17. . . . . . g.47215
TTCCCAG | GGGATGACGAGGAAGATGAGCCTGAGATCCCGCTGAGCCCCCGACCACGTCCC c.2280
F P G | D D E E D E P E I P L S P R P R P p.760
. . . . . . g.47275
CTGGCTGAGCTGCAGCTGAAAGAGAAGGCCGTGCCCATTCCAGAAGCCAGCTCCTTCTTC c.2340
L A E L Q L K E K A V P I P E A S S F F p.780
. . | 18 . . . . g.48005
ATCTTCAGCCCCACCAATAA | GATCCGTGTCCTGTGTCACCGCATCGTCAATGCCACCTGG c.2400
I F S P T N K | I R V L C H R I V N A T W p.800
. . . . . . g.48065
TTTACCAACTTCATCCTGCTCTTCATCCTGCTCAGCAGCGCTGCACTGGCTGCGGAAGAC c.2460
F T N F I L L F I L L S S A A L A A E D p.820
. . . | 19 . . . g.48400
CCCATCCGGGCTGATTCCATGAGAAATCAG | ATCCTTAAACACTTTGACATCGGGTTCACC c.2520
P I R A D S M R N Q | I L K H F D I G F T p.840
. . . | 20 . . . g.50603
TCTGTCTTCACTGTGGAGATTGTCCTCAAG | ATGACGACCTACGGAGCCTTCCTGCACAAG c.2580
S V F T V E I V L K | M T T Y G A F L H K p.860
. . . . . . g.50663
GGTTCCTTCTGCCGCAATTACTTCAACATGCTGGACCTGCTGGTGGTGGCCGTGTCCCTC c.2640
G S F C R N Y F N M L D L L V V A V S L p.880
. | 21. . . . . g.51293
ATCTCCATGGGACTTGA | GTCCAGTGCCATCTCCGTGGTGAAGATCCTGAGGGTGCTGAGG c.2700
I S M G L E | S S A I S V V K I L R V L R p.900
. . . . | 22 . . g.51636
GTGCTCCGACCACTCAGAGCCATCAACAGAGCCAAGGGGTTGAAG | CACGTGGTGCAGTGC c.2760
V L R P L R A I N R A K G L K | H V V Q C p.920
. . . . . . g.51696
ATGTTCGTGGCCATCAGCACCATCGGGAACATCGTGCTGGTCACTACCCTCCTACAGTTC c.2820
M F V A I S T I G N I V L V T T L L Q F p.940
. . . | 23 . . . g.55079
ATGTTTGCCTGCATCGGCGTCCAGCTCTTCAAG | GGGAAGTTCTTCAGGTGCACCGACTTG c.2880
M F A C I G V Q L F K | G K F F R C T D L p.960
. . | 24 . . . . g.55510
TCCAAGATGACAGAGGAGGAGTGCAG | GGGCTACTACTACGTGTACAAGGACGGGGACCCC c.2940
S K M T E E E C R | G Y Y Y V Y K D G D P p.980
. . . . . . g.55570
ATGCAGATAGAGCTGCGTCACCGCGAGTGGGTACACAGCGACTTCCACTTCGACAATGTG c.3000
M Q I E L R H R E W V H S D F H F D N V p.1000
. . . . . | 25 . g.56105
CTCTCAGCCATGATGTCCCTCTTCACGGTCTCCACCTTCGAGGGATGGCCTCA | GCTGCTG c.3060
L S A M M S L F T V S T F E G W P Q | L L p.1020
. . . . . . g.56165
TACAAGGCCATAGACTCCAATGCGGAGGACGTGGGTCCCATCTACAACAACCGTGTGGAG c.3120
Y K A I D S N A E D V G P I Y N N R V E p.1040
. . . . . . g.56225
ATGGCCATCTTCTTCATCATCTACATCATCCTCATTGCCTTCTTCATGATGAACATCTTT c.3180
M A I F F I I Y I I L I A F F M M N I F p.1060
. . . . . . g.56285
GTGGGCTTCGTCATTGTCACCTTCCAGGAGCAGGGAGAGACTGAGTACAAGAACTGTGAG c.3240
V G F V I V T F Q E Q G E T E Y K N C E p.1080
. | 26 . . . . . g.56795
CTGGACAAGAACCAG | CGCCAATGTGTACAGTATGCCCTGAAGGCCCGCCCACTGAGGTGC c.3300
L D K N Q | R Q C V Q Y A L K A R P L R C p.1100
. . . . . . g.56855
TACATTCCCAAAAACCCATACCAGTACCAGGTGTGGTACATTGTCACCTCCTCCTACTTT c.3360
Y I P K N P Y Q Y Q V W Y I V T S S Y F p.1120
. . . . . | 27 . g.58273
GAATACCTGATGTTTGCCCTCATCATGCTCAACACCATCTGCCTCGGCATGCAG | CACTAC c.3420
E Y L M F A L I M L N T I C L G M Q | H Y p.1140
. . . . . . g.58333
AACCAGTCGGAGCAGATGAACCACATCTCAGACATCCTCAATGTGGCCTTCACTATCATC c.3480
N Q S E Q M N H I S D I L N V A F T I I p.1160
. . . . | 28 . . g.59090
TTCACCCTGGAGATGATCCTCAAGCTCATGGCCTTCAAGGCCAGG | GGCTACTTTGGAGAC c.3540
F T L E M I L K L M A F K A R | G Y F G D p.1180
. . . . . . g.59150
CCCTGGAATGTGTTTGACTTCCTGATTGTCATTGGCAGCATCATTGATGTCATCCTCAGT c.3600
P W N V F D F L I V I G S I I D V I L S p.1200
| 29 . . . . . g.63056
GAGATCGAC | ACTTTCCTGGCCTCCAGCGGGGGACTGTATTGCCTGGGTGGAGGCTGCGGG c.3660
E I D | T F L A S S G G L Y C L G G G C G p.1220
| 30 . . . . . . g.64033
AACGTT | GACCCAGATGAGAGTGCCCGCATCTCCAGCGCCTTCTTCCGCCTGTTCCGTGTC c.3720
N V | D P D E S A R I S S A F F R L F R V p.1240
. . . . . . g.64093
ATGAGGCTGATCAAGCTGCTGAGCCGGGCAGAAGGAGTGCGAACCCTCCTGTGGACGTTC c.3780
M R L I K L L S R A E G V R T L L W T F p.1260
. | 31 . . . . . g.64337
ATCAAGTCCTTCCAG | GCCCTACCCTACGTGGCTCTGCTCATCGTCATGCTCTTCTTCATC c.3840
I K S F Q | A L P Y V A L L I V M L F F I p.1280
. . | 32 . . . . g.64957
TACGCTGTCATCGGCATGCAG | ATGTTTGGGAAGATCGCCTTGGTGGATGGGACCCAAATA c.3900
Y A V I G M Q | M F G K I A L V D G T Q I p.1300
. . . . . | 33 . g.66430
AACCGGAACAACAACTTCCAGACCTTCCCACAAGCTGTGCTACTGCTCTTCAG | GTGTGCA c.3960
N R N N N F Q T F P Q A V L L L F R | C A p.1320
. . . . . . g.66490
ACAGGTGAGGCCTGGCAGGAGATCCTACTGGCCTGCAGCTATGGGAAGCTGTGTGACCCA c.4020
T G E A W Q E I L L A C S Y G K L C D P p.1340
. . . . . . g.66550
GAGTCGGACTATGCCCCAGGGGAGGAGTACACATGTGGCACCAACTTTGCATACTACTAC c.4080
E S D Y A P G E E Y T C G T N F A Y Y Y p.1360
. . . | 34 . . . g.67077
TTCATCAGCTTCTACATGCTCTGTGCCTTCCTG | GTCATCAACCTCTTTGTGGCTGTCATC c.4140
F I S F Y M L C A F L | V I N L F V A V I p.1380
. . . . . . g.67137
ATGGACAATTTTGACTACCTCACCCGGGACTGGTCCATCCTGGGCCCTCATCACCTGGAT c.4200
M D N F D Y L T R D W S I L G P H H L D p.1400
. . . . | 35 . . g.68486
GAGTTCAAGGCCATCTGGGCAGAGTATGACCCAGAGGCTAA | GGGGAGAATCAAACACCTG c.4260
E F K A I W A E Y D P E A K | G R I K H L p.1420
. . . . . . g.68546
GACGTGGTGACCCTGCTGAGAAGGATTCAGCCCCCTCTGGGCTTTGGGAAGTTCTGCCCA c.4320
D V V T L L R R I Q P P L G F G K F C P p.1440
. | 36 . . . . g.68924
CATCGGGTAGCTTGTAAG | CGGCTGGTGGGCATGAACATGCCCCTGAACAGCGACGGCACA c.4380
H R V A C K | R L V G M N M P L N S D G T p.1460
. . . . . . g.68984
GTCACCTTCAATGCCACACTCTTTGCCCTGGTCCGCACGGCACTCAAGATCAAGACGGAA c.4440
V T F N A T L F A L V R T A L K I K T E p.1480
| 37 . . . . . . g.69999
G | GTAACTTTGAGCAGGCCAACGAGGAGCTGAGGGCCATCATCAAGAAGATCTGGAAGAGA c.4500
G | N F E Q A N E E L R A I I K K I W K R p.1500
. . . . | 38 . . g.70344
ACCAGCATGAAGCTCTTGGACCAGGTCATCCCTCCAATAGGAG | ATGATGAGGTGACAGTG c.4560
T S M K L L D Q V I P P I G D | D E V T V p.1520
. . . . . . g.70404
GGGAAGTTCTACGCCACATTCCTCATCCAGGAGCACTTCCGGAAGTTCATGAAACGCCAA c.4620
G K F Y A T F L I Q E H F R K F M K R Q p.1540
. . . . | 39 . g.73122
GAGGAGTATTATGGCTATCGGCCCAAGAAGGACATTGTACAGATCCAG | GCAGGGCTGCGG c.4680
E E Y Y G Y R P K K D I V Q I Q | A G L R p.1560
. . . . . . g.73182
ACCATTGAGGAAGAGGCAGCCCCCGAGATCTGTCGCACGGTCTCAGGAGACCTGGCTGCT c.4740
T I E E E A A P E I C R T V S G D L A A p.1580
. . . . . | 40. g.74038
GAGGAGGAGCTGGAGAGAGCCATGGTGGAGGCTGCGATGGAGGAGGGAATATTCCGG | AGG c.4800
E E E L E R A M V E A A M E E G I F R | R p.1600
. . . . . . g.74098
ACTGGAGGCCTGTTTGGCCAGGTGGACAACTTCCTGGAAAGGACCAACTCCCTGCCCCCC c.4860
T G G L F G Q V D N F L E R T N S L P P p.1620
. . . . . . g.74158
GTCATGGCCAATCAGAGACCCCTCCAGTTTGCTGAGATAGAGATGGAAGAGATGGAGTCA c.4920
V M A N Q R P L Q F A E I E M E E M E S p.1640
. . . . . . g.74218
CCTGTCTTCTTGGAGGACTTCCCACAAGATCCACGCACCAACCCCCTGGCTCGTGCCAAT c.4980
P V F L E D F P Q D P R T N P L A R A N p.1660
. . . . . . g.74278
ACCAACAATGCCAACGCCAATGTCGCCTATGGCAACAGCAACCATAGCAACAGCCATGTG c.5040
T N N A N A N V A Y G N S N H S N S H V p.1680
| 41 . . . . . g.76029
TTTTCCAG | TGTCCACTATGAAAGGGAGTTCCCAGAAGAGACAGAGACGCCTGCTACCAGA c.5100
F S S | V H Y E R E F P E E T E T P A T R p.1700
. . . | 42 . . . g.76879
GGACGAGCCCTTGGCCAACCCTGCAGGGTCCTGG | GACCCCACAGCAAACCCTGTGTGGAG c.5160
G R A L G Q P C R V L G | P H S K P C V E p.1720
. . . . . . g.76939
ATGCTGAAGGGACTGCTGACCCAGAGGGCAATGCCCAGAGGCCAGGCACCTCCTGCCCCC c.5220
M L K G L L T Q R A M P R G Q A P P A P p.1740
| 43 . . . . . . g.77246
TGCCAG | TGCCCCAGGGTGGAGTCCTCCATGCCTGAGGACAGAAAGAGCTCCACACCAGGG c.5280
C Q | C P R V E S S M P E D R K S S T P G p.1760
. . . . . . g.77306
TCTCTTCATGAGGAGACACCCCACAGCAGGAGCACCAGGGAGAATACTTCCAGGTGCTCA c.5340
S L H E E T P H S R S T R E N T S R C S p.1780
. . . | 44 . . . g.77514
GCACCAGCTACAGCCCTGCTGATCCAAAAG | GCTCTGGTTCGAGGGGGCCTGGGCACCTTG c.5400
A P A T A L L I Q K | A L V R G G L G T L p.1800
. . . . . . g.77574
GCAGCTGATGCAAACTTCATCATGGCAACAGGCCAGGCCCTGGCAGATGCCTGCCAAATG c.5460
A A D A N F I M A T G Q A L A D A C Q M p.1820
. . . . . . g.77634
GAACCAGAGGAAGTGGAGATCATGGCAACAGAGCTACTGAAAGGACGAGAGGCCCCAGAG c.5520
E P E E V E I M A T E L L K G R E A P E p.1840
. . . . . . g.77694
GGCATGGCCAGCTCCCTGGGATGCCTGAACCTCGGGTCCTCCCTGGGCAGCCTCGACCAA c.5580
G M A S S L G C L N L G S S L G S L D Q p.1860
. . . . g.77736
CACCAGGGCTCCCAGGAGACCCTTATTCCTCCAAGGCTGTGA c.5622
H Q G S Q E T L I P P R L X p.1873
. . . . . . g.77796
tgcccacacagcatcagcatgggcttagagctggcatgaccaatgggggtggggaagttg c.*60
. . . . . . g.77856
ctggggtggagaagggctagcccaccgcagcagcctccctccctctcagcagctagatgc c.*120
. . . . . . g.77916
atggcctgaggcagggtggtcaggaaccacctcaaaaagtgcggaggaagtagctggaca c.*180
. . . . . . g.77976
ggccctgcccctcaccagcaagaggcatgattggatggagcttctaatgtcattcaaaaa c.*240
. . . . . . g.78036
ggcctggtcagtgcctgtctggcctagggccactcccacctgcaggacattaaaatctcc c.*300
. g.78055
aggcctgtgacactggcaa c.*319
(downstream sequence)
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