(used for variant description)
(last modified February 16, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_000933.3 in the PLCB4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000020.10, covering PLCB4 transcript NM_000933.3.
(upstream sequence)
. g.243761
gtcttgaatataatc c.-1
. . . . . . g.243821
ATGGCCAAACCTTATGAATTTAACTGGCAGAAGGAAGTTCCCTCCTTTTTGCAAGAAGGA c.60
M A K P Y E F N W Q K E V P S F L Q E G p.20
. . | 02 . . . . g.273108
GCAGTTTTTGACAGATACGAGGAG | GAATCCTTTGTGTTTGAACCCAACTGCCTCTTCAAA c.120
A V F D R Y E E | E S F V F E P N C L F K p.40
. . . . | 03 . . g.273969
GTGGATGAGTTTGGCTTCTTTCTGACATGGAGAAGTGAAGGCAAG | GAAGGACAGGTGCTA c.180
V D E F G F F L T W R S E G K | E G Q V L p.60
. . . . | 04 . . g.274855
GAATGCTCCCTCATCAACAGTATTCGGTCGGGAGCCATACCAAAG | GATCCCAAAATCTTG c.240
E C S L I N S I R S G A I P K | D P K I L p.80
. . . . . . g.274915
GCTGCTCTTGAAGCTGTTGGAAAATCAGAAAATGATCTGGAAGGGCGGATAGTTTGTGTC c.300
A A L E A V G K S E N D L E G R I V C V p.100
. . . . . . g.274975
TGCAGTGGCACAGATCTAGTGAACATTAGTTTTACCTACATGGTGGCTGAAAATCCAGAA c.360
C S G T D L V N I S F T Y M V A E N P E p.120
| 05 . . . . . g.298893
GTAACTAAG | CAATGGGTAGAAGGCCTGAGATCAATCATACACAACTTCAGGGCCAACAAC c.420
V T K | Q W V E G L R S I I H N F R A N N p.140
. . | 06 . . . g.301438
GTCAGTCCAATGACATGCCTCAAGAAACA | CTGGATGAAATTGGCATTTATGACCAACACA c.480
V S P M T C L K K H | W M K L A F M T N T p.160
. . | 07 . . . . g.307197
AATGGTAAAATTCCAGTTAGGAG | TATTACTAGAACATTTGCATCGGGAAAAACAGAAAAG c.540
N G K I P V R S | I T R T F A S G K T E K p.180
. . . . | 08 . . g.308264
GTGATCTTTCAAGCACTCAAGGAGTTAGGTCTTCCCAGTGGAAAG | AATGATGAAATTGAG c.600
V I F Q A L K E L G L P S G K | N D E I E p.200
. . . . . . g.308324
CCCACAGCATTTTCTTATGAAAAGTTCTATGAACTGACACAAAAGATTTGTCCTCGGACA c.660
P T A F S Y E K F Y E L T Q K I C P R T p.220
. . | 09 . . . . g.309027
GATATAGAAGATCTTTTCAAAAAAAT | CAATGGAGACAAAACTGATTATTTAACGGTAGAC c.720
D I E D L F K K I | N G D K T D Y L T V D p.240
. . | 10 . . . . g.316036
CAATTAGTGAGCTTTCTAAATGAA | CATCAACGAGATCCTCGATTGAATGAAATTTTATTT c.780
Q L V S F L N E | H Q R D P R L N E I L F p.260
. . . . . . g.316096
CCATTTTATGATGCCAAAAGGGCAATGCAGATCATTGAGATGTATGAACCTGATGAAGAT c.840
P F Y D A K R A M Q I I E M Y E P D E D p.280
. | 11 . . . . . g.320194
TTGAAGAAAAAAG | GCCTTATATCAAGTGATGGGTTTTGCAGATATCTGATGTCAGATGAA c.900
L K K K G | L I S S D G F C R Y L M S D E p.300
. . . . . . g.320254
AACGCCCCAGTCTTCCTAGATCGTTTAGAACTTTACCAAGAAATGGACCATCCTCTGGCT c.960
N A P V F L D R L E L Y Q E M D H P L A p.320
. . . . . . g.320314
CACTACTTCATCAGTTCTTCCCATAACACTTATCTCACTGGCAGACAGTTCGGCGGGAAG c.1020
H Y F I S S S H N T Y L T G R Q F G G K p.340
. . . . | 12 . . g.323425
TCTTCGGTAGAAATGTACAGACAGGTTCTCCTGGCTGGTTGCAG | ATGTGTTGAACTTGAC c.1080
S S V E M Y R Q V L L A G C R | C V E L D p.360
. . . . . . g.323485
TGCTGGGATGGAAAAGGTGAAGACCAAGAACCAATAATAACTCATGGAAAAGCAATGTGT c.1140
C W D G K G E D Q E P I I T H G K A M C p.380
. | 13 . . . . g.325867
ACAGATATCCTTTTTAAG | GATGTAATTCAAGCCATCAAGGAAACTGCATTTGTCACATCA c.1200
T D I L F K | D V I Q A I K E T A F V T S p.400
. . . | 14 . . g.326499
GAATATCCTGTAATTCTCTCCTTTGAAAATCACTGCAG | CAAATATCAACAGTACAAGATG c.1260
E Y P V I L S F E N H C S | K Y Q Q Y K M p.420
. . . . . . g.326559
TCCAAATATTGCGAAGATCTATTTGGGGATCTCCTGTTGAAACAAGCACTTGAATCACAT c.1320
S K Y C E D L F G D L L L K Q A L E S H p.440
| 15 . . . . . . g.329591
CCA | CTTGAACCAGGCAGGGCTTTGCCATCCCCCAATGACCTCAAAAGAAAAATACTCATA c.1380
P | L E P G R A L P S P N D L K R K I L I p.460
. . . | 16 . . . g.331495
AAAAACAAGCGGCTGAAACCTGAAGTTGAAAAAA | AACAGCTGGAAGCTTTGAGAAGCATG c.1440
K N K R L K P E V E K K | Q L E A L R S M p.480
. . . . . . g.331555
ATGGAAGCTGGAGAATCTGCCTCCCCAGCAAACATCTTAGAGGACGATAATGAAGAGGAG c.1500
M E A G E S A S P A N I L E D D N E E E p.500
. | 17 . . . . . g.337486
ATCGAAAGTG | CTGACCAAGAGGAGGAAGCTCACCCCGAATTCAAATTTGGAAATGAACTT c.1560
I E S A | D Q E E E A H P E F K F G N E L p.520
. . . . . | 18 . g.343872
TCTGCTGATGACTTGGGTCACAAGGAAGCTGTTGCAAATAGCGTCAAGAAG | GGCCTGGTC c.1620
S A D D L G H K E A V A N S V K K | G L V p.540
. . . . . . g.343932
ACTGTAGAAGATGAGCAGGCGTGGATGGCATCTTATAAATATGTAGGTGCTACCACTAAT c.1680
T V E D E Q A W M A S Y K Y V G A T T N p.560
. . . . . . g.343992
ATCCATCCATATTTGTCCACAATGATCAACTACGCCCAGCCTGTAAAGTTTCAAGGTTTC c.1740
I H P Y L S T M I N Y A Q P V K F Q G F p.580
. | 19 . . . . . g.344626
CATGTGGCAGAAG | AACGCAATATTCATTATAACATGTCTTCTTTTAATGAATCAGTCGGT c.1800
H V A E E | R N I H Y N M S S F N E S V G p.600
. . . | 20 . . g.345025
CTTGGCTACTTGAAGACACATGCAATTGAATTTGTCAA | TTATAACAAACGGCAAATGAGT c.1860
L G Y L K T H A I E F V N | Y N K R Q M S p.620
. . . . . . g.345085
CGCATTTACCCCAAGGGAGGCCGAGTCGATTCCAGTAATTACATGCCTCAGATTTTCTGG c.1920
R I Y P K G G R V D S S N Y M P Q I F W p.640
. . . . | 21 . . g.347000
AACGCTGGCTGCCAGATGGTTTCACTGAACTATCAAACCCCAG | ATTTAGCGATGCAATTG c.1980
N A G C Q M V S L N Y Q T P D | L A M Q L p.660
. . . | 22 . . . g.355778
AATCAGGGAAAATTTGAGTATAATGGATCGTGCGG | GTACCTTCTCAAACCAGATTTCATG c.2040
N Q G K F E Y N G S C G | Y L L K P D F M p.680
. . . . . . g.355838
AGGCGGCCTGATCGAACATTTGACCCCTTCTCTGAAACTCCTGTTGATGGTGTTATTGCA c.2100
R R P D R T F D P F S E T P V D G V I A p.700
. | 23 . . . . g.357285
GCCACTTGCTCAGTGCAG | GTTATATCAGGTCAATTCTTATCAGATAAGAAAATTGGCACC c.2160
A T C S V Q | V I S G Q F L S D K K I G T p.720
. . . . . . g.357345
TACGTAGAGGTGGATATGTATGGGTTGCCCACTGACACCATACGTAAGGAATTCCGAACT c.2220
Y V E V D M Y G L P T D T I R K E F R T p.740
. . . . . . g.357405
CGCATGGTTATGAATAATGGACTCAATCCAGTTTACAATGAAGAGTCATTTGTATTTCGG c.2280
R M V M N N G L N P V Y N E E S F V F R p.760
| 24 . . . . . . g.359751
AAG | GTGATCCTGCCGGACCTGGCTGTCTTGAGAATAGCTGTGTATGATGATAACAACAAG c.2340
K | V I L P D L A V L R I A V Y D D N N K p.780
. . . . . . g.359811
CTGATTGGCCAGAGGATCCTCCCGCTTGATGGCCTCCAAGCCGGATATCGACACATTTCC c.2400
L I G Q R I L P L D G L Q A G Y R H I S p.800
. . . . . . g.359871
CTTCGAAATGAGGGAAATAAACCATTATCACTACCAACAATTTTCTGCAATATTGTTCTT c.2460
L R N E G N K P L S L P T I F C N I V L p.820
. . | 25 . . . g.371538
AAAACATATGTGCCTGATGGATTTGGAG | ATATCGTGGATGCTTTATCAGATCCAAAGAAA c.2520
K T Y V P D G F G D | I V D A L S D P K K p.840
. . . . . | 26. g.372951
TTTCTCTCAATTACAGAAAAGAGAGCAGACCAAATGAGAGCTATGGGCATTGAAACT | AGT c.2580
F L S I T E K R A D Q M R A M G I E T | S p.860
. . . . . . g.373011
GACATAGCCGACGTGCCCAGTGACACTTCCAAAAATGACAAGAAAGGAAAGGCCAACACC c.2640
D I A D V P S D T S K N D K K G K A N T p.880
. . . . . . g.373071
GCCAAAGCAAATGTGACCCCTCAGAGTAGCTCTGAGCTCAGACCAACCACCACGGCTGCC c.2700
A K A N V T P Q S S S E L R P T T T A A p.900
. . | 27 . . . g.379959
CTGGCCTCTGGTGTGGAAGCCAAGAAAG | GTATTGAACTTATCCCTCAAGTAAGGATAGAA c.2760
L A S G V E A K K G | I E L I P Q V R I E p.920
. | 28 . . . . g.380166
GACTTAAAGCAGATGAAG | GCTTACTTGAAGCATTTAAAGAAACAGCAGAAGGAGCTAAAT c.2820
D L K Q M K | A Y L K H L K K Q Q K E L N p.940
. . | 29 . . . . g.389329
TCTTTAAAGAAGAAACATGCAAAG | GAACACAGTACCATGCAGAAGTTACACTGCACGCAA c.2880
S L K K K H A K | E H S T M Q K L H C T Q p.960
. . . . . . g.389389
GTTGACAAAATTGTGGCACAGTATGACAAAGAGAAGTCGACTCATGAGAAAATCCTAGAG c.2940
V D K I V A Q Y D K E K S T H E K I L E p.980
. . | 30 . . . . g.393400
AAGGCAATGAAGAAGAAGGG | GGGAAGTAATTGTCTCGAAATGAAAAAAGAAACAGAAATC c.3000
K A M K K K G | G S N C L E M K K E T E I p.1000
. . . | 31 . . . g.395605
AAAATTCAGACGCTGACATCAGATCACAAATCTAAG | GTCAAAGAGATTGTAGCACAGCAC c.3060
K I Q T L T S D H K S K | V K E I V A Q H p.1020
. . . . . . g.395665
ACAAAGGAATGGTCAGAAATGATCAATACCCACAGTGCTGAGGAGCAAGAAATCCGAGAC c.3120
T K E W S E M I N T H S A E E Q E I R D p.1040
. . . . . . g.395725
CTGCACCTCAGCCAGCAGTGTGAGCTGCTGAAAAAGCTACTCATCAATGCCCACGAGCAG c.3180
L H L S Q Q C E L L K K L L I N A H E Q p.1060
. . . | 32 . . . g.404545
CAAACCCAGCAGCTGAAACTGTCCCATGACAG | GGAAAGCAAGGAAATGCGAGCACACCAG c.3240
Q T Q Q L K L S H D R | E S K E M R A H Q p.1080
. . . . . . g.404605
GCTAAGATTTCTATGGAAAATAGCAAAGCCATCAGCCAAGATAAATCTATCAAGAATAAA c.3300
A K I S M E N S K A I S Q D K S I K N K p.1100
. | 33 . . . . . g.408782
GCAGAACGGGAAAG | GCGAGTCAGGGAGTTAAACAGCAGCAACACTAAAAAGTTTCTGGAA c.3360
A E R E R | R V R E L N S S N T K K F L E p.1120
. | 34 . . . . . g.409273
GAAAGAAAGAGA | CTTGCCATGAAGCAGTCCAAAGAAATGGATCAGTTGAAAAAAGTCCAG c.3420
E R K R | L A M K Q S K E M D Q L K K V Q p.1140
. . . | 35 . . g.412684
CTTGAACATCTAGAATTCCTAGAGAAACAGAATGAGCAG | CTTTTGAAATCCTGTCATGCA c.3480
L E H L E F L E K Q N E Q | L L K S C H A p.1160
. | 36 . . . . . g.414911
GTGTCCCAAACGCAAG | GCGAAGGAGATGCAGCAGATGGTGAAATTGGAAGCCGAGATGGA c.3540
V S Q T Q G | E G D A A D G E I G S R D G p.1180
. . . . g.414956
CCGCAGACCAGCAACAGTAGTATGAAACTCCAAAATGCAAACTGA c.3585
P Q T S N S S M K L Q N A N X p.1194
. . . . . . g.415016
agcagcaaacccacaaagcatcaaaagactcactcacaaacttctgaacacaaactccat c.*60
. . . . . . g.415076
ggatgaaagctgtttattttgtttcctttatgtgtaaacaagatgatatctgaaaccaga c.*120
. . . . . . g.415136
gagacttggaatgtctgactgacttctatttaacagcttgagtattgcatttccttggcc c.*180
. . . . . . g.415196
aaacaaaaatagctacaaatccacaaaaatttactattccagtaaggcagagtccaacca c.*240
. . . . . . g.415256
ttgataatacaacttaaacatgtttgctataaaataccatcacaagtaaatgagcttggt c.*300
. . . . . . g.415316
gtgaacaactctcctttgtgatgccttaggacatgtttgaactgcagcaaaaaacaaaaa c.*360
. . . . . . g.415376
caaaaaacagtgcattagcaatttcatagcaagtgcatgcactaggaaaagaaaactctg c.*420
. . . . . . g.415436
tctacaagtttattagcagaagtggtggtctgctagacaaataattttgcaaaatttttc c.*480
. . . . . . g.415496
tacatctaagttacctcatcagtaagtgccatgtctctaccatgccatcagaggctaatt c.*540
. . . . . . g.415556
tcctgtaaaagttgtggaaattgttagaacaatagaaaaatagagcagtgtatgtgtgcc c.*600
. . . . . . g.415616
aaaactcatcattactcaaaggagaactgtgttaggcacatttaagaaagtttacatctg c.*660
. . . . . . g.415676
acattgctttataggaattgtttctgcagattccggatattataattcacaccataaaga c.*720
. . . . . . g.415736
ttgtgaagtggttattggcaaacgtttgtaaatgtgaccatgtataaagtatttatactc c.*780
. . . . . . g.415796
tttaattcacactgttagagagcaaaatcatctaagtattgccacatgacaagattagta c.*840
. . . . . . g.415856
aacaggaatactagaactatgtttgcatgatacacaagcaccaataaagactaatccata c.*900
. . . . . . g.415916
cacagttaacctaatgccaaataaatactggttaaataaatgtatggcacagaatataat c.*960
. . . . . . g.415976
ttgactatcaagacttttagcataatgaaaaaccctctctctatatatatatgtgtatat c.*1020
. . . . . . g.416036
gaattatgtgggcattcttgatacttcaagttctagtttgaaaaaaatacataactaatt c.*1080
. . . . . . g.416096
taattttacacaaaaatatttatgcagattttcagaatttcatatcaggaaatgaccttt c.*1140
. . . . . . g.416156
ttatgtctgttaaatatcaaaacaatttgctacagtgttaatctgcatggtctttaagcc c.*1200
. . . . . . g.416216
tgctgtagttgagttgcagacagtgcatgaaaaagtattccgctgggaattgagccatgc c.*1260
. . . . . . g.416276
caccaaagccaagaggagcgcatggaaacccggtagtctagaactaatcagattactgat c.*1320
. . . . . . g.416336
tttagggcacagcaccagatgaattgttgtatatgcttgtaaaaattgattctgtgtgtt c.*1380
. . . . . . g.416396
cctctgaacaaagcggagaaaatgatgataccatcaatattgaaattaaacttccaactt c.*1440
. . . . . . g.416456
ctctaataaaaaattaaaacacgcataacactcgtcaagagtatttgctcccaagacaca c.*1500
. . . . . . g.416516
ttctagcaaatgttttgcctttttcatatacatgatatcatcgttattttcaaagggggc c.*1560
. . . . . . g.416576
ttattaataccctcagcatgtttttcacccaaatgatgcaaaacatgcagattctagttg c.*1620
. . . . . . g.416636
acttcagttgtaatagacttgtttttctcctatttatgatttgaagtggattctgtaaaa c.*1680
. . . . . . g.416696
tatctcttgttcttagtttccttatctgtaaaacagtggagttagactacatatcttttg c.*1740
. . . . . . g.416756
gcactaacatctcatgaaaaattatggttaataaaatatcaccacatttggattgccaat c.*1800
g.416763
tttcaaa c.*1807
(downstream sequence)
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