(used for variant description)
(last modified April 4, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_014996.2 in the PLCH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering PLCH1 transcript NM_014996.2.
(upstream sequence)
. g.5014
tggaaaaaaggaac c.-61
. . . . . | 02 g.112841
tgtgtgcagtaccgcaggcattttctggtggacaacagtgtgtttcatg | ttgaaagatgc c.-1
. . . . . . g.112901
ATGAGTGTGATGCAGTCCGGGACACAGATGATCAAGCTGAAACGTGGAACCAAAGGGCTT c.60
M S V M Q S G T Q M I K L K R G T K G L p.20
. . . . . . g.112961
GTCCGCCTCTTTTACCTGGATGAGCACCGGACACGCCTCCGATGGCGACCCTCTAGGAAG c.120
V R L F Y L D E H R T R L R W R P S R K p.40
. | 03 . . . . . g.115068
AGTGAGAAGGCAAAAA | TACTTATTGATTCCATTTACAAAGTGACTGAGGGCCGGCAGTCT c.180
S E K A K I | L I D S I Y K V T E G R Q S p.60
. . . . . . g.115128
GAAATATTCCACAGACAAGCTGAGGGGAACTTCGACCCCAGCTGCTGCTTCACCATCTAC c.240
E I F H R Q A E G N F D P S C C F T I Y p.80
. . . . . . g.115188
CATGGCAACCACATGGAGTCCCTGGACCTCATCACCTCCAACCCCGAGGAGGCCCGCACC c.300
H G N H M E S L D L I T S N P E E A R T p.100
. . . . . . g.115248
TGGATCACAGGCCTCAAGTACCTGATGGCTGGCATCAGTGATGAAGACTCCCTTGCCAAA c.360
W I T G L K Y L M A G I S D E D S L A K p.120
. . | 04 . . . . g.123054
AGGCAGAGGACCCATGACCA | ATGGGTGAAGCAGACCTTTGAGGAAGCTGATAAGAATGGT c.420
R Q R T H D Q | W V K Q T F E E A D K N G p.140
. . . . . . g.123114
GACGGCTTGCTGAATATTGAAGAGATACATCAGCTGATGCATAAACTGAATGTTAATCTG c.480
D G L L N I E E I H Q L M H K L N V N L p.160
. . . | 05 . . . g.125596
CCCCGAAGAAAAGTCAGACAAATGTTTCAG | GAAGCCGACACAGATGAGAATCAGGGAACT c.540
P R R K V R Q M F Q | E A D T D E N Q G T p.180
. . . . . . g.125656
TTGACATTTGAAGAGTTCTGTGTTTTTTACAAAATGATGTCTTTGAGACGAGACCTTTAT c.600
L T F E E F C V F Y K M M S L R R D L Y p.200
. . . . . . g.125716
TTGTTACTTTTGAGCTACAGTGACAAGAAAGATCACCTAACTGTGGAAGAACTGGCTCAG c.660
L L L L S Y S D K K D H L T V E E L A Q p.220
. . | 06 . . . . g.140923
TTTTTGAAGGTGGAGCAAAAG | ATGAATAATGTGACAACGGACTATTGTCTTGACATCATA c.720
F L K V E Q K | M N N V T T D Y C L D I I p.240
. . . . . | 07 . g.144095
AAGAAGTTTGAAGTTTCAGAAGAAAATAAGGTGAAAAATGTTCTTGGCATAGAAG | GCTTC c.780
K K F E V S E E N K V K N V L G I E G | F p.260
. . . . . . g.144155
ACGAACTTCATGCGTAGTCCTGCCTGTGACATATTTAACCCATTGCACCATGAAGTGTAC c.840
T N F M R S P A C D I F N P L H H E V Y p.280
. . . . . . g.144215
CAAGACATGGATCAGCCCCTCTGCAACTACTACATTGCTTCCTCTCACAATACATACCTG c.900
Q D M D Q P L C N Y Y I A S S H N T Y L p.300
. . . . . . g.144275
ACTGGAGACCAGCTCCTTTCTCAGTCCAAAGTGGATATGTATGCACGGGTGCTGCAAGAG c.960
T G D Q L L S Q S K V D M Y A R V L Q E p.320
. | 08 . . . . g.155053
GGCTGTCGCTGTGTGGAAG | TTGACTGTTGGGATGGCCCAGATGGAGAGCCAGTAGTACAT c.1020
G C R C V E V | D C W D G P D G E P V V H p.340
. . . . . . g.155113
CATGGTTACACTCTCACTTCAAAAATTCTCTTCAGAGATGTTGTGGAGACCATCAACAAG c.1080
H G Y T L T S K I L F R D V V E T I N K p.360
. . | 09 . . . . g.159290
CATGCCTTTGTGAAGAATGA | GTTTCCTGTTATATTGTCTATCGAGAATCACTGCAGTATC c.1140
H A F V K N E | F P V I L S I E N H C S I p.380
. . . . . . g.159350
CAGCAGCAAAGGAAGATTGCTCAGTACCTGAAAGGAATATTCGGAGACAAACTGGACCTG c.1200
Q Q Q R K I A Q Y L K G I F G D K L D L p.400
. . . . . . g.159410
TCATCTGTTGATACAGGGGAGTGCAAGCAGCTTCCAAGCCCTCAAAGTTTGAAAGGCAAA c.1260
S S V D T G E C K Q L P S P Q S L K G K p.420
. | 10 . . . . . g.185252
ATTCTAGTGAAG | GGTAAGAAGTTGCCTTATCACCTTGGGGATGATGCAGAGGAAGGGGAA c.1320
I L V K | G K K L P Y H L G D D A E E G E p.440
. . . . . . g.185312
GTTTCTGATGAGGACAGTGCAGATGAAATTGAAGACGAGTGCAAATTCAAGCTCCATTAT c.1380
V S D E D S A D E I E D E C K F K L H Y p.460
| 11 . . . . . . g.194384
| AGTAATGGGACCACTGAGCATCAGGTGGAATCTTTCATAAGGAAAAAACTGGAGTCACTG c.1440
| S N G T T E H Q V E S F I R K K L E S L p.480
. . . . . . g.194444
TTAAAAGAATCTCAAATTCGAGATAAAGAAGATCCTGATAGTTTCACAGTGCGGGCACTA c.1500
L K E S Q I R D K E D P D S F T V R A L p.500
. . . . | 12 . . g.204600
CTGAAGGCCACGCATGAAGGCTTAAATGCACACCTGAAGCAG | AGTCCAGATGTAAAGGAA c.1560
L K A T H E G L N A H L K Q | S P D V K E p.520
. . . . . | 13 . g.208420
AGTGGAAAGAAATCACATGGACGATCCCTCATGACCAACTTTGGAAAACATAAG | AAAACT c.1620
S G K K S H G R S L M T N F G K H K | K T p.540
. . . . . . g.208480
ACAAAATCACGGTCTAAATCTTACAGTACTGATGATGAGGAAGACACACAGCAGAGTACT c.1680
T K S R S K S Y S T D D E E D T Q Q S T p.560
. . | 14 . . . . g.211825
GGCAAGGAGGGTGGCCAGCTGTACAG | ATTGGGTCGCCGAAGGAAAACCATGAAGCTCTGC c.1740
G K E G G Q L Y R | L G R R R K T M K L C p.580
. . . . . . g.211885
CGAGAACTCTCTGATTTGGTTGTGTACACAAACTCCGTGGCCGCTCAGGACATTGTGGAT c.1800
R E L S D L V V Y T N S V A A Q D I V D p.600
| 15 . . . . . . g.214747
GACG | GAACCACAGGAAATGTGTTATCATTCAGTGAAACAAGAGCACATCAGGTTGTTCAG c.1860
D G | T T G N V L S F S E T R A H Q V V Q p.620
. . . . . . g.214807
CAAAAATCAGAGCAGTTCATGATTTATAATCAAAAGCAACTCACGAGGATTTACCCCTCT c.1920
Q K S E Q F M I Y N Q K Q L T R I Y P S p.640
. . . . . . g.214867
GCCTACCGCATTGATTCCAGTAACTTCAACCCTCTCCCCTACTGGAACGCAGGCTGCCAG c.1980
A Y R I D S S N F N P L P Y W N A G C Q p.660
| 16 . . . . . . g.215016
CTAG | TGGCACTGAATTATCAATCTGAAGGACGAATGATGCAGTTAAACCGAGCCAAATTC c.2040
L V | A L N Y Q S E G R M M Q L N R A K F p.680
. . . . . | 17 . g.216363
AAGGCAAATGGCAATTGTGGCTATGTCCTCAAACCCCAGCAAATGTGCAAAG | GTACTTTC c.2100
K A N G N C G Y V L K P Q Q M C K G | T F p.700
. . . . . . g.216423
AACCCTTTCTCTGGTGACCCTCTTCCTGCCAACCCCAAAAAGCAGCTCATCCTGAAAGTT c.2160
N P F S G D P L P A N P K K Q L I L K V p.720
. . . . . | 18. g.218343
ATCAGTGGACAGCAACTCCCCAAACCTCCAGACTCCATGTTTGGAGATCGAGGCGAG | ATC c.2220
I S G Q Q L P K P P D S M F G D R G E | I p.740
. . . . . . g.218403
ATTGACCCTTTTGTTGAAGTTGAAATTATTGGATTGCCAGTAGATTGTTGTAAAGATCAA c.2280
I D P F V E V E I I G L P V D C C K D Q p.760
. . | 19 . . . . g.220440
ACCCGTGTGGTAGATGACAATG | GATTTAACCCTGTGTGGGAAGAAACACTGACATTTACA c.2340
T R V V D D N G | F N P V W E E T L T F T p.780
. . . . . . g.220500
GTACACATGCCAGAAATAGCTTTGGTTCGGTTCCTTGTGTGGGATCACGATCCCATTGGA c.2400
V H M P E I A L V R F L V W D H D P I G p.800
. . . . | 20 . g.221112
CGAGACTTTGTTGGACAAAGAACTGTGACCTTCAGCAGCTTAGTGCCTG | GCTACCGGCAT c.2460
R D F V G Q R T V T F S S L V P G | Y R H p.820
. . . . . . g.221172
GTCTATTTGGAAGGACTGACAGAAGCATCCATATTTGTACACATAACCATCAATGAAATC c.2520
V Y L E G L T E A S I F V H I T I N E I p.840
| 21 . . . . . g.223549
TATGGAAAG | AACAGACAACTCCAGGGTCTGAAGGGACTGTTCAATAAGAATCCTAGGCAC c.2580
Y G K | N R Q L Q G L K G L F N K N P R H p.860
. . . . . . g.223609
AGTTCTTCAGAAAACAATTCCCATTATGTACGGAAGCGATCCATTGGAGATAGAATTCTG c.2640
S S S E N N S H Y V R K R S I G D R I L p.880
. . . . . . g.223669
CGACGCACAGCTAGCGCCCCAGCCAAAGGCAGGAAAAAGAGCAAAATGGGCTTCCAAGAA c.2700
R R T A S A P A K G R K K S K M G F Q E p.900
. . . . . . g.223729
ATGGTGGAGATAAAGGATTCTGTGTCCGAGGCCACAAGAGATCAAGATGGCGTGCTGAGG c.2760
M V E I K D S V S E A T R D Q D G V L R p.920
. . . . . . g.223789
AGGACCACACGCAGTTTGCAAGCACGCCCTGTCTCTATGCCTGTTGACAGAAACCTTCTG c.2820
R T T R S L Q A R P V S M P V D R N L L p.940
. . . . . . g.223849
GGAGCTTTGTCGCTGCCTGTATCTGAAACAGCAAAAGACATTGAAGGAAAAGAAAACTCT c.2880
G A L S L P V S E T A K D I E G K E N S p.960
| 22 . . . . . . g.226213
CTAG | CAGAAGATAAAGATGGCAGAAGAAAAGGGAAAGCAAGTATAAAAGATCCACATTTT c.2940
L A | E D K D G R R K G K A S I K D P H F p.980
. . . . . . g.226273
CTAAATTTCAACAAAAAGTTATCATCCTCCTCCAGTGCTCTGCTCCACAAAGATACCAGC c.3000
L N F N K K L S S S S S A L L H K D T S p.1000
. . . . . . g.226333
CAAGGGGACACCATTGTATCTACTGCCCACATGTCAGTCACAGGAGAACAGCTGGGCATG c.3060
Q G D T I V S T A H M S V T G E Q L G M p.1020
. . . . . . g.226393
TCAAGTCCTAGGGGTGGGAGAACCACATCAAATGCCACAAGCAATTGCCAGGAAAACCCC c.3120
S S P R G G R T T S N A T S N C Q E N P p.1040
. . . . . . g.226453
TGTCCCAGCAAGTCTCTCTCCCCAAAGCAGCATTTGGCTCCCGATCCTGTAGTTAACCCC c.3180
C P S K S L S P K Q H L A P D P V V N P p.1060
. . . . . . g.226513
ACACAAGATCTGCATGGTGTGAAAATCAAGGAAAAGGGTAATCCTGAGGACTTTGTGGAA c.3240
T Q D L H G V K I K E K G N P E D F V E p.1080
. . . . . . g.226573
GGGAAAAGCATCTTGTCAGGAAGCGTCCTTTCTCATAGCAACCTAGAAATTAAGAACCTG c.3300
G K S I L S G S V L S H S N L E I K N L p.1100
. . . . . . g.226633
GAAGGTAATAGGGGTAAGGGCCGAGCTGCAACATCCTTTTCTTTGTCAGACGTCTCCATG c.3360
E G N R G K G R A A T S F S L S D V S M p.1120
. . . . . . g.226693
CTCTGTTCTGACATACCTGACCTACATTCAACTGCAATTCTGCAGGAGAGTGTAATTTCC c.3420
L C S D I P D L H S T A I L Q E S V I S p.1140
. . . . . . g.226753
CATCTTATTGACAATGTCACTTTAACAAATGAGAATGAGCCGGGCAGTTCCATCTCAGCC c.3480
H L I D N V T L T N E N E P G S S I S A p.1160
. . . . . . g.226813
CTGATTGGCCAGTTTGATGAGACCAACAATCAGGCTCTCACAGTTGTTTCTCATCTTCAT c.3540
L I G Q F D E T N N Q A L T V V S H L H p.1180
. . . . . . g.226873
AATACCAGTGTGATGTCAGGCCATTGTCCCTTGCCTAGCCTGGGCCTAAAAATGCCCATC c.3600
N T S V M S G H C P L P S L G L K M P I p.1200
. . . . . . g.226933
AAGCATGGTTTTTGCAAGGGAAAATCCAAGTCTTCCTTCCTGTGCTCATCTCCGGAGCTG c.3660
K H G F C K G K S K S S F L C S S P E L p.1220
. . . . . . g.226993
ATAGCACTCTCGAGTTCTGAGACCACCAAACATGCAACGAACACAGTTTATGAAACTACC c.3720
I A L S S S E T T K H A T N T V Y E T T p.1240
. . . . . . g.227053
TGCACTCCCATCTCTAAAACCAAACCAGATGATGACCTTTCTAGTAAGGCCAAGACAGCG c.3780
C T P I S K T K P D D D L S S K A K T A p.1260
. . . . . . g.227113
GCCTTAGAAAGCAACCTGCCTGGATCCCCTAATACTTCTCGTGGCTGGTTACCAAAAAGT c.3840
A L E S N L P G S P N T S R G W L P K S p.1280
. . . . . . g.227173
CCTACCAAGGGAGAAGACTGGGAAACACTGAAGAGCTGCAGCCCTGCCTCTTCCCCTGAT c.3900
P T K G E D W E T L K S C S P A S S P D p.1300
. . . . . . g.227233
TTGACCCTGGAGGATGTAATAGCTGATCCCACTCTCTGTTTCAATTCTGGGGAGAGCAGC c.3960
L T L E D V I A D P T L C F N S G E S S p.1320
. . . . . . g.227293
CTTGTGGAAATTGATGGAGAATCAGAAAATCTTTCTCTAACAACCTGTGAATATAGGAGA c.4020
L V E I D G E S E N L S L T T C E Y R R p.1340
. . . . . . g.227353
GAGGGCACAAGTCAACTTGCTTCTCCTTTAAAACTCAAGTACAATCAGGGTGTGGTAGAA c.4080
E G T S Q L A S P L K L K Y N Q G V V E p.1360
. . . . . . g.227413
CACTTTCAAAGAGGTTTGAGAAACGGCTACTGTAAAGAGACCCTCCGCCCTTCTGTCCCT c.4140
H F Q R G L R N G Y C K E T L R P S V P p.1380
. . . . . . g.227473
GAAATATTCAACAATATTCAAGATGTCAAAACTCAAAGTATTTCTTATCTAGCCTATCAG c.4200
E I F N N I Q D V K T Q S I S Y L A Y Q p.1400
. . . . . . g.227533
GGTGCTGGCTTTGTGCATAATCATTTCTCAGATTCAGATGCAAAAATGTTCCAGACCTGT c.4260
G A G F V H N H F S D S D A K M F Q T C p.1420
. . . . . . g.227593
GTGCCCCAGCAATCTAGTGCTCAAGATATGCATGTCCCTGTACCCAAGCAGTTGGCACAT c.4320
V P Q Q S S A Q D M H V P V P K Q L A H p.1440
. . . . . . g.227653
CTTCCTTTGCCTGCTCTGAAACTGCCTAGTCCTTGCAAATCCAAAAGTCTGGGGGACTTA c.4380
L P L P A L K L P S P C K S K S L G D L p.1460
. . . . . . g.227713
ACATCAGAGGACATTGCCTGCAATTTTGAGAGCAAGTACCAGTGTATTAGTAAGAGTTTT c.4440
T S E D I A C N F E S K Y Q C I S K S F p.1480
. . . . . . g.227773
GTTACAACTGGCATTAGAGACAAGAAGGGCGTGACTGTGAAGACAAAGTCGTTAGAGCCT c.4500
V T T G I R D K K G V T V K T K S L E P p.1500
. . . . . . g.227833
ATAGATGCCCTGACCGAGCAGCTTCGGAAGCTTGTGTCCTTTGACCAGGAAGACAACTGC c.4560
I D A L T E Q L R K L V S F D Q E D N C p.1520
. . . . . . g.227893
CAAGTGCTATATTCAAAGCAGGATGCCAATCAGCTCCCCCGGGCACTGGTCAGGAAGTTG c.4620
Q V L Y S K Q D A N Q L P R A L V R K L p.1540
. . . . . . g.227953
TCATCCAGAAGTCAGAGCAGAGTGCGCAATATTGCTAGTCGTGCCAAGGAGAAACAGGAA c.4680
S S R S Q S R V R N I A S R A K E K Q E p.1560
. . . . . . g.228013
GCCAACAAGCAGAAAGTTCCAAACCCCAGCAATGGGGCAGGAGTGGTTCTTAGAAACAAA c.4740
A N K Q K V P N P S N G A G V V L R N K p.1580
. . . . . . g.228073
CCCTCAGCACCCACCCCTGCAGTGAATCGCCACTCCACCGGCTCCTACATCGCAGGCTAC c.4800
P S A P T P A V N R H S T G S Y I A G Y p.1600
. . . . . . g.228133
CTGAAGAACACGAAAGGGGGTGGCCTTGAAGGCCGGGGCATCCCAGAGGGGGCATGCACG c.4860
L K N T K G G G L E G R G I P E G A C T p.1620
. . . . . . g.228193
GCTCTTCACTATGGCCACGTTGACCAGTTTTGTTCAGATAATTCTGTTTTGCAGACTGAG c.4920
A L H Y G H V D Q F C S D N S V L Q T E p.1640
. . . . g.228241
CCAAGCAGTGATGATAAACCAGAAATTTATTTTCTTTTGAGACTGTGA c.4968
P S S D D K P E I Y F L L R L X p.1655
. . . . . . g.228301
attatttaaaactgcattcttaaggttttcaaggtattctgtagaatgtcagagttttca c.*60
. . . . . . g.228361
gtaaataagttccttggctttggaatgattttcaaatgtatttttaaacttgtatttggg c.*120
. . . . . . g.228421
tctccctttgacttcatgtgttctccctgttaatgcgtttgtatatagatttggtgacat c.*180
. . . . . . g.228481
ttcccatgtacctattatgatctttctcccttgagttgttgtaaactgtatcagtatgaa c.*240
. . . . . . g.228541
atatgtgcatgccctagatgtgaaactcctcagcagctcgggttataatgtgtgtgtgtt c.*300
. . . . . . g.228601
tcaccaagatgtcctttactgtgtcctcagattgcagtcacaaatgtagtcatttttact c.*360
. . . . . . g.228661
ctctaactgttgagttgattaagagactttgcaaacgacaaagggatgaattccttactt c.*420
. . . . . . g.228721
taatctgttatcatttttcctatgtttccctctttgttcagaagcccagatgcattttta c.*480
. . . . . . g.228781
taactcagttttaaaaactttaaaatagttaccttgccttttaggatgttcttatcccac c.*540
. . . . . . g.228841
ccataatgagagttgaaaggggatggatagctgctccccatgcccttcccactttttgga c.*600
. . . . . . g.228901
ataggccgtgagggtgtgaggaagaaggctgtcttttgtacataaggacaaaattgtttg c.*660
. . . . . . g.228961
ttttacataaattttgttacatatttttgctaatggctttgtatgtaacaagaagcgagt c.*720
. . . . . . g.229021
tgccaaactacctgttgtacttttgaattttctgattgaattacagactgcgaacaacgg c.*780
. . . . . . g.229081
ctttcagaatgagggacttccatcagactctaatgataatagtagcacaaattgaaaact c.*840
. . . . . . g.229141
tccccaaagctttcacagaatattttctcataataaaatccaagtgaacagataattaga c.*900
. . . . . . g.229201
agaaacccttttccttcagggaaccaagcaactctattttagtactgacatgcattattt c.*960
. . . . . . g.229261
tcactgtgaattcacttttttattgcatgttcagatgtccctctttgttttttttttttg c.*1020
. . . . . . g.229321
taacattaactgcaatgatgttcttcctggaattcatgaaaatataattaaaacacattt c.*1080
g.229327
ttaaac c.*1086
(downstream sequence)
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