(used for variant description)
(last modified June 12, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_052867.2 in the NALCN gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_053176.1, covering NALCN transcript NM_052867.2.
(upstream sequence)
g.5009
cgcgctgcc c.-181
. . . . . . g.5069
tgagctgagccgccgtaggtgaggggcccgcgtccccgcccgccctgggcgccgcgcctg c.-121
. . . . . . g.5129
gcactgatcctgccggtcgcccactgtcgccgccgccgccgcccgcgggcaccatgacag c.-61
. . . | 02 . . . g.22336
ctctgagcgctggggttacag | actgtggttttgtgcttgctcaccaaagctaacctcagc c.-1
. . . . . . g.22396
ATGCTCAAAAGGAAGCAGAGTTCCAGGGTGGAAGCCCAGCCAGTCACTGACTTTGGTCCT c.60
M L K R K Q S S R V E A Q P V T D F G P p.20
. . . . | 03 . g.26109
GATGAGTCTCTGTCGGATAATGCTGACATCCTCTGGATTAACAAACCA | TGGGTTCACTCT c.120
D E S L S D N A D I L W I N K P | W V H S p.40
. . . . . . g.26169
TTGCTGCGCATCTGTGCCATCATCAGCGTCATTTCTGTTTGTATGAATACGCCAATGACC c.180
L L R I C A I I S V I S V C M N T P M T p.60
. . . . . . g.26229
TTCGAGCACTATCCTCCACTTCAGTATGTGACCTTCACTTTGGATACATTATTGATGTTT c.240
F E H Y P P L Q Y V T F T L D T L L M F p.80
. . . . . | 04 . g.42818
CTCTACACGGCAGAGATGATAGCAAAAATGCACATCCGGGGCATTGTCAAG | GGGGATAGT c.300
L Y T A E M I A K M H I R G I V K | G D S p.100
. . . . . . g.42878
TCCTATGTGAAAGATCGCTGGTGTGTTTTTGATGGATTTATGGTCTTTTGCCTTTGGGTT c.360
S Y V K D R W C V F D G F M V F C L W V p.120
. | 05 . . . . . g.44451
TCTTTGGTGCTACAG | GTGTTTGAAATTGCTGATATAGTTGATCAGATGTCACCTTGGGGC c.420
S L V L Q | V F E I A D I V D Q M S P W G p.140
. . . . . . g.44511
ATGTTGCGGATTCCACGGCCACTGATTATGATCCGAGCATTCCGGATTTATTTCCGATTT c.480
M L R I P R P L I M I R A F R I Y F R F p.160
. . . | 06 . . . g.44659
GAACTGCCAAGGACCAGAATTACAAATATTTTAAA | GCGATCGGGAGAACAAATATGGAGT c.540
E L P R T R I T N I L K | R S G E Q I W S p.180
. . . . . . g.44719
GTTTCCATTTTTCTACTTTTCTTTCTACTTCTTTATGGAATTTTAGGAGTTCAGATGTTT c.600
V S I F L L F F L L L Y G I L G V Q M F p.200
. . . . | 07 . . g.76058
GGAACATTTACTTATCACTGTGTTGTAAATGACACAAAGCCAGG | GAATGTAACCTGGAAT c.660
G T F T Y H C V V N D T K P G | N V T W N p.220
. . . . . . g.76118
AGTTTAGCTATTCCAGACACACACTGCTCACCAGAGCTAGAAGAAGGCTACCAGTGCCCA c.720
S L A I P D T H C S P E L E E G Y Q C P p.240
. . . . . . g.76178
CCTGGATTTAAATGCATGGACCTTGAAGATCTGGGACTTAGCAGGCAAGAGCTGGGCTAC c.780
P G F K C M D L E D L G L S R Q E L G Y p.260
. | 08 . . . . g.129137
AGTGGCTTTAATGAGATAG | GAACTAGTATATTCACCGTCTATGAGGCCGCCTCACAGGAA c.840
S G F N E I G | T S I F T V Y E A A S Q E p.280
. . . . . . g.129197
GGCTGGGTGTTCCTCATGTACAGAGCAATTGACAGCTTTCCCCGTTGGCGTTCCTACTTC c.900
G W V F L M Y R A I D S F P R W R S Y F p.300
. . . . | 09 . . g.129386
TATTTCATCACTCTCATTTTCTTCCTCGCCTGGCTTGTGAAG | AACGTGTTTATTGCTGTT c.960
Y F I T L I F F L A W L V K | N V F I A V p.320
. . . . . . g.129446
ATCATTGAAACATTTGCAGAAATCAGAGTACAGTTTCAACAAATGTGGGGATCGAGAAGC c.1020
I I E T F A E I R V Q F Q Q M W G S R S p.340
. . | 10. . . . g.137476
AGCACTACCTCAACAGCCACCACCCAG | ATGTTTCATGAAGATGCTGCTGGAGGTTGGCAG c.1080
S T T S T A T T Q | M F H E D A A G G W Q p.360
. . . . . | 11 . g.162894
CTGGTAGCTGTGGATGTCAACAAGCCCCAGGGACGCGCCCCAGCCTGCCTCCAG | AAAATG c.1140
L V A V D V N K P Q G R A P A C L Q | K M p.380
. . . . . . g.162954
ATGCGGTCATCCGTTTTCCACATGTTCATCCTGAGCATGGTGACCGTGGACGTGATCGTG c.1200
M R S S V F H M F I L S M V T V D V I V p.400
. . . . . . g.163014
GCGGCTAGCAACTACTACAAAGGAGAAAACTTCAGGAGGCAGTACGACGAGTTCTACCTG c.1260
A A S N Y Y K G E N F R R Q Y D E F Y L p.420
| 12 . . . . . . g.183594
GCGGAG | GTGGCTTTTACAGTACTTTTTGATTTGGAAGCACTTCTGAAGATATGGTGTTTG c.1320
A E | V A F T V L F D L E A L L K I W C L p.440
. . . . . . g.183654
GGATTTACTGGATATATTAGCTCATCTCTCCACAAATTCGAACTACTACTCGTAATTGGA c.1380
G F T G Y I S S S L H K F E L L L V I G p.460
. . . . . | 13 . g.191884
ACTACTCTTCATGTATACCCAGATCTTTATCATTCACAATTCACGTACTTTCAG | GTTCTC c.1440
T T L H V Y P D L Y H S Q F T Y F Q | V L p.480
. . . . . . g.191944
CGAGTAGTTCGGCTGATTAAGATTTCACCTGCATTAGAAGACTTTGTGTACAAGATATTT c.1500
R V V R L I K I S P A L E D F V Y K I F p.500
. . . . . . g.192004
GGTCCTGGAAAAAAGCTTGGGAGTTTGGTTGTATTTACTGCCAGCCTCTTGATTGTTATG c.1560
G P G K K L G S L V V F T A S L L I V M p.520
. . . . . . g.192064
TCAGCAATTAGTTTGCAGATGTTCTGCTTTGTCGAAGAACTGGACAGATTTACTACGTTT c.1620
S A I S L Q M F C F V E E L D R F T T F p.540
| 14 . . . . . . g.229462
CCGAGG | GCATTTATGTCCATGTTCCAGATCCTCACCCAGGAAGGATGGGTGGACGTAATG c.1680
P R | A F M S M F Q I L T Q E G W V D V M p.560
. . . . . . g.229522
GACCAAACTCTAAATGCTGTGGGACATATGTGGGCACCCGTGGTTGCCATCTATTTCATT c.1740
D Q T L N A V G H M W A P V V A I Y F I p.580
. . | 15 . . . . g.245124
CTCTATCATCTTTTTGCCACTCTG | ATCCTCCTGAGTTTGTTTGTTGCTGTTATTTTGGAC c.1800
L Y H L F A T L | I L L S L F V A V I L D p.600
. . . | 16 . . g.276587
AACTTAGAACTTGATGAAGACCTAAAGAAGCTTAAACAA | TTAAAGCAAAGTGAAGCAAAT c.1860
N L E L D E D L K K L K Q | L K Q S E A N p.620
. . . . . . g.276647
GCGGACACCAAAGAAAAGCTCCCTTTACGCCTGCGAATCTTTGAAAAATTTCCAAACAGA c.1920
A D T K E K L P L R L R I F E K F P N R p.640
. . . . . | 17 . g.278245
CCTCAAATGGTGAAAATCTCAAAGCTTCCTTCAGATTTTACAGTTCCTAAAATCAG | GGAG c.1980
P Q M V K I S K L P S D F T V P K I R | E p.660
. . . . . . g.278305
AGTTTTATGAAGCAGTTTATTGACCGCCAGCAACAGGACACATGTTGCCTCCTGAGAAGC c.2040
S F M K Q F I D R Q Q Q D T C C L L R S p.680
. . . . . . g.278365
CTCCCGACCACCTCTTCCTCCTCCTGCGACCACTCCAAACGCTCAGCAATTGAGGACAAC c.2100
L P T T S S S S C D H S K R S A I E D N p.700
. | 18 . . . . g.296823
AAATACATCGACCAAAAA | CTTCGCAAGTCTGTTTTCAGCATCAGGGCAAGGAACCTTCTG c.2160
K Y I D Q K | L R K S V F S I R A R N L L p.720
. . . | 19 . . . g.310264
GAAAAGGAGACCGCAGTCACTAAAATCTTAAG | AGCTTGCACCCGACAGCGCATGCTGAGC c.2220
E K E T A V T K I L R | A C T R Q R M L S p.740
. . . . . . g.310324
GGATCATTTGAGGGGCAGCCCGCAAAGGAGAGGTCAATCCTCAGCGTGCAGCATCATATC c.2280
G S F E G Q P A K E R S I L S V Q H H I p.760
. | 20 . . . . . g.310820
CGCCAAGAGCGCAG | GTCACTAAGACATGGATCAAACAGCCAGAGGATCAGCAGGGGAAAA c.2340
R Q E R R | S L R H G S N S Q R I S R G K p.780
. . | 21 . . . . g.313709
TCTCTTGAAACTTTGACTCAAGAT | CATTCCAATACAGTGAGATATAGAAATGCACAAAGA c.2400
S L E T L T Q D | H S N T V R Y R N A Q R p.800
. . . . . | 22 . g.313857
GAAGACAGTGAAATAAAGATGATTCAGGAAAAAAAGGAGCAAGCAGAGATGAAAAG | GAAA c.2460
E D S E I K M I Q E K K E Q A E M K R | K p.820
. . . . . . g.313917
GTGCAAGAAGAGGAACTCAGAGAGAACCACCCATACTTCGATAAGCCACTGTTCATTGTC c.2520
V Q E E E L R E N H P Y F D K P L F I V p.840
. . . . . | 23 g.316513
GGGCGAGAACACAGGTTCAGAAACTTTTGCCGGGTGGTGGTCCGAGCACGCTTCAACGC | A c.2580
G R E H R F R N F C R V V V R A R F N A | p.860
. . . . . | 24 . g.316816
TCTAAAACAGACCCTGTCACAGGAGCTGTGAAAAATACAAAGTACCATCAACTTTA | TGAT c.2640
S K T D P V T G A V K N T K Y H Q L Y | D p.880
. . . . . . g.316876
TTGCTGGGATTGGTCACTTACCTGGACTGGGTCATGATCATCGTAACCATCTGCTCTTGC c.2700
L L G L V T Y L D W V M I I V T I C S C p.900
. . . . . | 25. g.317039
ATTTCCATGATGTTTGAGTCCCCGTTTCGAAGAGTCATGCATGCACCTACTTTGCAG | ATT c.2760
I S M M F E S P F R R V M H A P T L Q | I p.920
. . . . . . g.317099
GCTGAGTATGTGTTTGTGATATTCATGAGCATTGAGCTTAATCTGAAGATTATGGCAGAT c.2820
A E Y V F V I F M S I E L N L K I M A D p.940
. . . . . . g.317159
GGCTTATTTTTCACTCCAACTGCTGTCATCAGGGACTTCGGTGGAGTAATGGACATATTT c.2880
G L F F T P T A V I R D F G G V M D I F p.960
| 26 . . . . . g.318174
ATATATCTT | GTGAGCTTGATATTTCTTTGTTGGATGCCTCAAAATGTACCTGCTGAATCG c.2940
I Y L | V S L I F L C W M P Q N V P A E S p.980
. . . . . . g.318234
GGAGCTCAGCTTCTAATGGTCCTTCGGTGCCTGAGACCTCTGCGCATATTCAAACTGGTG c.3000
G A Q L L M V L R C L R P L R I F K L V p.1000
. . . . . | 27. g.320577
CCCCAGATGAGGAAAGTTGTTCGAGAACTTTTCAGCGGCTTCAAGGAAATTTTTTTG | GTC c.3060
P Q M R K V V R E L F S G F K E I F L | V p.1020
. . . . . . g.320637
TCCATTCTTTTGCTGACATTAATGCTCGTTTTTGCAAGCTTTGGAGTTCAGCTTTTTGCT c.3120
S I L L L T L M L V F A S F G V Q L F A p.1040
. . . . | 28 . . g.325800
GGAAAACTGGCCAAGTGCAATGATCCCAACATTATTAGAAGG | GAAGATTGCAATGGCATA c.3180
G K L A K C N D P N I I R R | E D C N G I p.1060
. . . . . . g.325860
TTCAGAATTAATGTCAGTGTGTCAAAGAACTTAAATTTAAAATTGAGGCCTGGAGAGAAA c.3240
F R I N V S V S K N L N L K L R P G E K p.1080
. . | 29 . . . g.331527
AAACCTGGATTTTGGGTGCCCCGTGTTTG | GGCGAATCCTCGGAACTTTAATTTCGACAAT c.3300
K P G F W V P R V W | A N P R N F N F D N p.1100
. . . . . . g.331587
GTGGGAAACGCTATGCTGGCGTTGTTTGAAGTTCTCTCCTTGAAAGGCTGGGTGGAAGTG c.3360
V G N A M L A L F E V L S L K G W V E V p.1120
. . . | 30 . . . g.331731
AGAGATGTTATTATTCATCGTGTGGGGCCG | ATCCATGGAATCTATATTCATGTTTTTGTA c.3420
R D V I I H R V G P | I H G I Y I H V F V p.1140
. . . . . . g.331791
TTCCTGGGTTGCATGATTGGACTGACCCTTTTTGTTGGAGTAGTTATTGCTAATTTCAAT c.3480
F L G C M I G L T L F V G V V I A N F N p.1160
| 31 . . . . . g.337709
GAAAACAAG | GGGACGGCTTTGCTGACCGTCGATCAGAGAAGATGGGAAGACCTGAAGAGC c.3540
E N K | G T A L L T V D Q R R W E D L K S p.1180
. . . . | 32 . . g.338281
CGACTGAAGATCGCACAGCCTCTTCATCTTCCGCCTCGCCCGG | ATAATGATGGTTTTAGA c.3600
R L K I A Q P L H L P P R P D | N D G F R p.1200
. . . . . . g.338341
GCTAAAATGTATGACATAACCCAGCATCCATTTTTTAAGAGGACAATCGCATTACTCGTC c.3660
A K M Y D I T Q H P F F K R T I A L L V p.1220
. . . | 33 . . . g.338609
CTGGCCCAGTCGGTGTTGCTCTCTGTCAAG | TGGGACGTCGAGGACCCGGTGACCGTACCT c.3720
L A Q S V L L S V K | W D V E D P V T V P p.1240
. . . . | 34 . . g.339831
TTGGCAACAATGTCAGTTGTTTTCACCTTCATCTTTGTTCTGGAG | GTTACCATGAAGATC c.3780
L A T M S V V F T F I F V L E | V T M K I p.1260
. . . . . . g.339891
ATAGCAATGTCGCCTGCTGGCTTCTGGCAAAGCAGAAGAAACCGATACGATCTCCTGGTG c.3840
I A M S P A G F W Q S R R N R Y D L L V p.1280
. . . . | 35 . . g.345536
ACGTCGCTTGGCGTTGTATGGGTGGTGCTTCACTTTGCCCTCCTG | AATGCATATACTTAC c.3900
T S L G V V W V V L H F A L L | N A Y T Y p.1300
. . . . . | 36 . g.346806
ATGATGGGCGCTTGTGTGATTGTATTTAGGTTTTTCTCCATCTGTGGAAAACAT | GTAACG c.3960
M M G A C V I V F R F F S I C G K H | V T p.1320
. . . . . . g.346866
CTAAAGATGCTCCTCTTGACAGTGGTCGTCAGCATGTACAAGAGCTTCTTTATCATAGTA c.4020
L K M L L L T V V V S M Y K S F F I I V p.1340
. . . . . . g.346926
GGCATGTTTCTCTTGCTGCTGTGTTACGCTTTTGCTGGAGTTGTTTTATTTGGTACTGTG c.4080
G M F L L L L C Y A F A G V V L F G T V p.1360
. . | 37 . . . . g.347821
AAATATGGGGAGAATATTAACAG | GCATGCAAATTTTTCTTCGGCTGGAAAAGCTATTACC c.4140
K Y G E N I N R | H A N F S S A G K A I T p.1380
. . . . . | 38. g.352637
GTACTGTTCCGAATTGTCACAGGTGAAGACTGGAACAAGATTATGCATGACTGTATG | GTT c.4200
V L F R I V T G E D W N K I M H D C M | V p.1400
. . . . . . g.352697
CAGCCTCCGTTTTGTACTCCAGATGAATTTACATACTGGGCAACAGACTGTGGAAATTAT c.4260
Q P P F C T P D E F T Y W A T D C G N Y p.1420
. . . . . . g.352757
GCTGGGGCACTTATGTATTTCTGTTCATTTTATGTCATCATTGCCTACATCATGCTAAAT c.4320
A G A L M Y F C S F Y V I I A Y I M L N p.1440
. | 39 . . . . . g.353478
CTGCTTGTAG | CCATAATTGTGGAGAATTTCTCCTTGTTTTATTCCACTGAGGAGGACCAG c.4380
L L V A | I I V E N F S L F Y S T E E D Q p.1460
. . . . . . g.353538
CTTTTAAGTTACAATGATCTTCGCCACTTTCAAATAATATGGAACATGGTGGATGATAAA c.4440
L L S Y N D L R H F Q I I W N M V D D K p.1480
| 40 . . . . . . g.355954
AGAGAG | GGGGTGATCCCCACGTTCCGCGTCAAGTTCCTGCTGCGGCTACTGCGTGGGAGG c.4500
R E | G V I P T F R V K F L L R L L R G R p.1500
. . . . . . g.356014
CTGGAGGTGGACCTGGACAAGGACAAGCTCCTGTTTAAGCACATGTGCTACGAAATGGAG c.4560
L E V D L D K D K L L F K H M C Y E M E p.1520
. . . . | 41 . . g.359359
AGGCTCCACAATGGCGGCGACGTCACCTTCCATGATGTCCTGAG | CATGCTTTCATACCGG c.4620
R L H N G G D V T F H D V L S | M L S Y R p.1540
. . . . . . g.359419
TCCGTGGACATCCGGAAGAGCTTGCAGCTGGAGGAACTCCTGGCGAGGGAGCAGCTGGAG c.4680
S V D I R K S L Q L E E L L A R E Q L E p.1560
. . . . . . g.359479
TACACCATAGAGGAGGAGGTGGCCAAGCAGACCATCCGCATGTGGCTCAAGAAGTGCCTG c.4740
Y T I E E E V A K Q T I R M W L K K C L p.1580
. | 42 . . . . . g.361539
AAGCGCATCAGAGCT | AAACAGCAGCAGTCGTGCAGTATCATCCACAGCCTGAGAGAGAGT c.4800
K R I R A | K Q Q Q S C S I I H S L R E S p.1600
. . . . . . g.361599
CAGCAGCAAGAGCTGAGCCGGTTTCTGAACCCGCCCAGCATCGAGACCACCCAGCCCAGT c.4860
Q Q Q E L S R F L N P P S I E T T Q P S p.1620
. . . . | 43 . . g.363420
GAGGACACGAATGCCAACAGTCAGGACAACAGCATGCAACCTGAG | ACAAGCAGCCAGCAG c.4920
E D T N A N S Q D N S M Q P E | T S S Q Q p.1640
. . . . . . g.363480
CAGCTCCTGAGCCCCACGCTGTCGGATCGAGGAGGAAGTCGGCAAGATGCAGCCGACGCA c.4980
Q L L S P T L S D R G G S R Q D A A D A p.1660
. . . . | 44 . . g.365990
GGGAAACCCCAGAGGAAATTTGGGCAGTGGCGTCTGCCCTCAG | CCCCAAAACCAATAAGC c.5040
G K P Q R K F G Q W R L P S A | P K P I S p.1680
. . . . . . g.366050
CATTCAGTGTCCTCAGTCAACTTACGGTTTGGAGGAAGGACAACCATGAAATCTGTCGTG c.5100
H S V S S V N L R F G G R T T M K S V V p.1700
. . . . . . g.366110
TGCAAAATGAACCCCATGACTGACGCGGCTTCCTGCGGTTCTGAAGTTAAGAAGTGGTGG c.5160
C K M N P M T D A A S C G S E V K K W W p.1720
. . . . . g.366167
ACCCGGCAGCTGACTGTGGAGAGCGACGAAAGTGGGGATGACCTTCTGGATATTTAG c.5217
T R Q L T V E S D E S G D D L L D I X p.1738
. . . . . . g.366227
gtggatgtcaatgtagatgaatttctagtggtggaaaccgttttctaataatgtccttga c.*60
. . . . . . g.366287
ttgtccagtgagcaatctgtaattgatctataactgaattccagcttgtcacaagatgtt c.*120
. . . . . . g.366347
tataaattgattttcatcctgccacagaaaggcataagctgcatgtatgatgggttacta c.*180
. . . . . . g.366407
tcaatcattgctcaaaaaaatttttgtataatgacagtactgataatattagaaatgata c.*240
. . . . . . g.366467
ccgcaagcaaatgtatatcacttaaaaatgtcatatattctgtctgcgtaaactaaggta c.*300
. . . . . . g.366527
tatattcatatgtgctctaatgcagtattatcaccgccccgcaaaagagtgctaagccca c.*360
. . . . . . g.366587
aagtggctgatatttagggtacaggggttatagctttagttcacatctttcccatttcca c.*420
. . . . . . g.366647
ctagaaatatttctcttgagagaatttattatttatgattgatctgaaaaggtcagcact c.*480
. . . . . . g.366707
gaacttatgctaaaatgatagtagttttacaaactacagattctgaattttaaaaagtat c.*540
. . . . . . g.366767
cttctttttctcgtgttatatttttaaatatacacaagacatttggtgaccagaacaagt c.*600
. . . . . . g.366827
tgatttctgtcctcagttatgttaatgaaactgttgcctccttctaagaaaattgtgtgt c.*660
. . . . . . g.366887
gcaagcaccaggcaaagaaatggactcaggatgcttagcggtttaaaacaaacctgtaga c.*720
. . . . . . g.366947
taaatcacttgagtgacatagttgcgcaaagatgttaagtttcttaagaaaccttttaat c.*780
. . . . . . g.367007
aactgagtttagcaaaaagaataaaactatatagctcaatttatttaaaaaaatctttgc c.*840
. . . . . . g.367067
atgtgtgatgttatcattggcttcatttcttacccaaggtatgtctgttttgccataaat c.*900
. . . . . . g.367127
cagcagagtcatttcattctgggtgatcctaacacaccattgctacgttagatttgaaat c.*960
. . . . . . g.367187
gacatctctgttaaaagaatcttctatggaaataatggtgccctgcaaaatcttcctttg c.*1020
. . . . . . g.367247
aactcacaggttagggatcacacaacttacttaatcgttttttgtttttgttttttttcc c.*1080
. . . . . . g.367307
ttatatgtcaatggcccatgtcctccgggaaaattagaaaagcaaaatgattacaaagtg c.*1140
. . . . . . g.367367
ctgttagatttcttgtgctgggccagccaagtagaagtggacttgacttggacctttaac c.*1200
. . . . . . g.367427
tattttattacagattggacatttgctgttcagatgttttttaacagagggattatctca c.*1260
. . . . . . g.367487
gaatcctgtgacctccaggttgttttataatctatttttctctatttaacattcctcaga c.*1320
. . . . . . g.367547
tagataggcaaataggacattccttctgtgtcacagaagtatcgtggtagtggcagtcta c.*1380
. . . . . . g.367607
cagtttatatgattcattgtaactatgagataaagaacaaccagtcatgtggccaaaagg c.*1440
. . . . . . g.367667
attagatttgatttgatgttcacttggagtttactttttgtacatacaagataaaataaa c.*1500
. g.367684
tattggatttgtaaaat c.*1517
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center