(used for variant description)
(last modified December 7, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001098537.1 in the PNPLA7 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering PNPLA7 transcript NM_001098537.1.
(upstream sequence)
. . . g.5037
gctgcccccatccccgccgcgctgggcctggctcctc c.-301
. . . . . . g.5097
ttgacctgcttggatacgccccatctggctgctgttctgggttccgggacagccacgtga c.-241
. . . . . . g.5157
gggctgtttacagagggaaggaggtggctcctagcagatgacagacacttctcaaaagac c.-181
. . . . . . g.5217
agcttttcttcctggagaacagactttttcagcaggattttcctttcagtgaaacataat c.-121
. . . . . . g.5277
ttgacttgaaaggaacccagggaaaagtgtccaggtgtgagcatgagcgggtagaggtgt c.-61
. . . . . . g.5337
gcccttgtttgcttcaggctgtctgcttttcgcccctgactgttttttctgtttctggcc c.-1
. . . | 02 . . . g.7905
ATGGAGGAAGAGAAAGATGACAGCCCACAG | GCTGACTTCTGCCTGGGCACCGCCCTGCAC c.60
M E E E K D D S P Q | A D F C L G T A L H p.20
. . . . | 03 . . g.8153
TCTTGGGGACTGTGGTTCACGGAGGAAGGTTCACCGTCCACCATG | CTGACGGGGATTGCA c.120
S W G L W F T E E G S P S T M | L T G I A p.40
. . . . . . g.8213
GTTGGAGCCCTCCTGGCCCTGGCCTTGGTTGGTGTCCTCATCCTTTTCATGTTCAGAAGG c.180
V G A L L A L A L V G V L I L F M F R R p.60
. | 04 . . . . . g.8672
CTTAGACAATTTC | GACAAGCACAGCCCACTCCTCAGTACCGGTTCCGGAAGAGAGACAAA c.240
L R Q F R | Q A Q P T P Q Y R F R K R D K p.80
. . . | 05 . . . g.11746
GTGATGTTTTACGGCCGGAAGATCATGAGGAAG | GTGACCACACTCCCCAACACCCTTGTG c.300
V M F Y G R K I M R K | V T T L P N T L V p.100
. . . . . . g.11806
GAGAACACTGCCCTGCCCCGGCAGCGGGCCAGGAAGAGGACCAAGGTGCTGTCTTTGGCC c.360
E N T A L P R Q R A R K R T K V L S L A p.120
| 06 . . . . . . g.12017
AAGAG | GATTCTGCGTTTCAAGAAGGAATACCCGGCCCTGCAGCCCAAGGAGCCCCCGCCC c.420
K R | I L R F K K E Y P A L Q P K E P P P p.140
. . . . . . g.12077
TCCCTGCTGGAGGCCGACCTCACGGAGTTTGACGTGAAGAATTCTCACCTGCCATCGGAA c.480
S L L E A D L T E F D V K N S H L P S E p.160
. . | 07 . . . . g.12767
GTTCTGTACATGCTGAAAAACGTTCG | GGTCCTGGGCCACTTTGAGAAGCCGCTGTTCCTG c.540
V L Y M L K N V R | V L G H F E K P L F L p.180
. . . . . . g.12827
GAGCTTTGCAAACACATCGTCTTTGTGCAGCTGCAGGAAGGGGAGCACGTCTTCCAGCCC c.600
E L C K H I V F V Q L Q E G E H V F Q P p.200
. . . . . . g.12887
AGGGAGCCGGACCCCAGCATCTGTGTGGTGCAGGACGGGCGGCTGGAGGTCTGCATCCAG c.660
R E P D P S I C V V Q D G R L E V C I Q p.220
| 08 . . . . . . g.14866
GACACT | GACGGCACCGAGGTGGTGGTGAAAGAGGTTCTGGCGGGAGACAGCGTCCACAGC c.720
D T | D G T E V V V K E V L A G D S V H S p.240
. . | 09. . . . g.32710
CTGCTCAGCATCCTGGACATCATCACC | GGCCATGCTGCACCTTACAAAACGGTCTCCGTC c.780
L L S I L D I I T | G H A A P Y K T V S V p.260
. . . . . . g.32770
CGCGCGGCCATCCCGTCCACCATCCTCCGGCTTCCAGCTGCGGCTTTTCATGGAGTTTTT c.840
R A A I P S T I L R L P A A A F H G V F p.280
. . . | 10 . . . g.33842
GAGAAATATCCGGAAACTCTGGTGAGGGTGGTGCAG | ATCATCATGGTGCGGCTGCAGAGG c.900
E K Y P E T L V R V V Q | I I M V R L Q R p.300
. . . . . | 11. g.35494
GTGACCTTTCTGGCTCTGCACAACTACCTCGGCCTGACCACAGAGCTCTTCAACGCT | GAG c.960
V T F L A L H N Y L G L T T E L F N A | E p.320
. . . . . . g.35554
AGCCAGGCCATCCCTCTCGTGTCTGTAGCCAGTGTGGCTGCCGGGAAGGCCAAGAAGCAG c.1020
S Q A I P L V S V A S V A A G K A K K Q p.340
. . . . . . g.35614
GTGTTCTATGGCGAAGAAGAGCGGCTTAAAAAGCCACCGCGGCTCCAGGAGTCCTGTGAC c.1080
V F Y G E E E R L K K P P R L Q E S C D p.360
| 12 . . . . . . g.40071
TCAG | ATCACGGGGGCGGCCGCCCGGCAGCTGCTGGGCCCCTGCTGAAGAGGAGCCACTCC c.1140
S D | H G G G R P A A A G P L L K R S H S p.380
. . . . . . g.40131
GTCCCCGCGCCTTCCATTCGCAAACAGATCTTGGAGGAGCTGGAGAAGCCCGGGGCAGGT c.1200
V P A P S I R K Q I L E E L E K P G A G p.400
. . | 13 . . . . g.49486
GACCCTGACCCTTCGGCCCCACAAG | GGGGCCCAGGCAGTGCCACTTCTGATCTGGGGATG c.1260
D P D P S A P Q G | G P G S A T S D L G M p.420
. . . . . . g.49546
GCATGTGACCGTGCCAGGGTCTTCCTGCACTCGGACGAGCACCCCGGGAGCTCCGTGGCC c.1320
A C D R A R V F L H S D E H P G S S V A p.440
| 14 . . . . . . g.49828
AGCAAG | TCCAGGAAAAGCGTGATGGTTGCAGAGATACCCTCCACGGTCTCCCAGCACTCA c.1380
S K | S R K S V M V A E I P S T V S Q H S p.460
. . . . . . g.49888
GAGAGTCACACGGATGAGACCCTGGCCAGCAGGAAGTCGGATGCCATCTTCAGAGCTGCC c.1440
E S H T D E T L A S R K S D A I F R A A p.480
. . . | 15 . . . g.53834
AAGAAGGACCTGCTCACCCTGATGAAGCTGGAA | GACTCATCTCTGTTGGATGGCCGGGTG c.1500
K K D L L T L M K L E | D S S L L D G R V p.500
. . . . . | 16 . g.54647
GCGCTTCTGCACGTTCCTGCAGGCACGGTGGTGTCAAGGCAGGGAGACCAG | GACGCCAGC c.1560
A L L H V P A G T V V S R Q G D Q | D A S p.520
. . . . . . g.54707
ATCCTGTTCGTGGTCTCGGGGCTGCTGCACGTGTACCAGCGGAAGATCGGCAGCCAGGAG c.1620
I L F V V S G L L H V Y Q R K I G S Q E p.540
. . . . . . g.54767
GACACCTGCTTGTTCCTCACGCGCCCCGGGGAGATGGTGGGCCAGCTGGCCGTGCTCACC c.1680
D T C L F L T R P G E M V G Q L A V L T p.560
. . . . . . g.54827
GGGGAGCCTCTCATCTTCACCGTCAAGGCCAACAGGGACTGCAGCTTCCTGTCCATCTCC c.1740
G E P L I F T V K A N R D C S F L S I S p.580
. | 17. . . . . g.57332
AAGGCCCACTTCTATGA | AATCATGCGGAAGCAGCCGACCGTCGTCCTGGGTGTGGCGCAC c.1800
K A H F Y E | I M R K Q P T V V L G V A H p.600
. . . . . . g.57392
ACTGTGGTGAAGAGGATGTCGTCCTTCGTGCGGCAAATCGACTTTGCCCTGGACTGGGTG c.1860
T V V K R M S S F V R Q I D F A L D W V p.620
. . | 18 . . . g.58255
GAGGTGGAGGCCGGGCGAGCAATATACAG | GCAGGGGGACAAGTCCGACTGCACGTACATC c.1920
E V E A G R A I Y R | Q G D K S D C T Y I p.640
. . . . . . g.58315
ATGCTCAGCGGCCGGCTGCGCTCTGTGATCCGGAAGGATGATGGGAAGAAGCGCCTGGCC c.1980
M L S G R L R S V I R K D D G K K R L A p.660
. . . | 19 . . . g.60415
GGGGAGTACGGCCGAGGAGACCTCGTCGGCGTG | GTGGAGACACTGACCCACCAGGCCCGG c.2040
G E Y G R G D L V G V | V E T L T H Q A R p.680
. . . . . . g.60475
GCGACCACGGTGCATGCCGTTCGGGACTCAGAATTGGCCAAGCTGCCGGCAGGAGCCCTC c.2100
A T T V H A V R D S E L A K L P A G A L p.700
. . | 20. . . . g.62485
ACGTCCATCAAGCGCAGGTACCCACAG | GTGGTGACTCGGCTGATTCATCTCTTGGGTGAG c.2160
T S I K R R Y P Q | V V T R L I H L L G E p.720
. . . | 21. . . g.70821
AAGATCCTGGGCAGCCTCCAGCAGGGACCTGTGACAG | GCCACCAGCTTGGGCTCCCCACG c.2220
K I L G S L Q Q G P V T G | H Q L G L P T p.740
. . . . . . g.70881
GAGGGCAGCAAGTGGGACTTGGGGAACCCGGCTGTCAACCTGTCCACGGTGGCAGTGATG c.2280
E G S K W D L G N P A V N L S T V A V M p.760
. . . . . . g.70941
CCCGTGTCAGAGGAAGTGCCCCTCACCGCCTTCGCCCTGGAGCTGGAGCATGCCCTCAGC c.2340
P V S E E V P L T A F A L E L E H A L S p.780
| 22. . . . . . g.74564
GCCATCG | GCCCGACCCTGCTGCTGACTAGTGACAACATAAAACGGCGCCTTGGCTCCGCT c.2400
A I G | P T L L L T S D N I K R R L G S A p.800
. | 23 . . . . . g.75103
GCCCTGGACAG | TGTTCACGAGTACCGGCTGTCCAGCTGGCTGGGGCAGCAGGAGGACACC c.2460
A L D S | V H E Y R L S S W L G Q Q E D T p.820
. . . . . . g.75163
CACAGGATCGTGCTCTACCAGGTAGATGGCACGCTCACACCCTGGACCCAGCGCTGCGTG c.2520
H R I V L Y Q V D G T L T P W T Q R C V p.840
. . . . . . g.75223
CGCCAGGCCGACTGCATCCTCATCGTGGGCCTGGGTGACCAGGAGCCCACAGTGGGCGAG c.2580
R Q A D C I L I V G L G D Q E P T V G E p.860
| 24 . . . . . . g.76356
| CTGGAGCGGATGCTGGAGAGCACAGCTGTGCGTGCCCAGAAGCAGCTGATCCTGCTGCAC c.2640
| L E R M L E S T A V R A Q K Q L I L L H p.880
. . . . . . g.76416
AGGGAGGAGGGCCCGGCGCCAGCGCGCACCGTGGAGTGGCTCAACATGCGGAGCTGGTGC c.2700
R E E G P A P A R T V E W L N M R S W C p.900
. . . . . . g.76476
TCCGGCCACCTGCACCTCTGCTGCCCGCGCCGCGTCTTCTCCAGGAGGAGCCTGCCCAAG c.2760
S G H L H L C C P R R V F S R R S L P K p.920
| 25 . . . . . . g.77439
CTG | GTGGAGATGTACAAGCATGTCTTCCAGCGGCCCCCGGACCGACACTCAGACTTCTCC c.2820
L | V E M Y K H V F Q R P P D R H S D F S p.940
. . . . . . g.77499
CGCCTGGCGAGGGTGCTGACGGGCAACGCCATTGCCCTGGTGCTTGGGGGAGGGGGAGCA c.2880
R L A R V L T G N A I A L V L G G G G A p.960
| 26 . . . . . . g.88119
AG | AGGCTGTGCCCAGGTGGGCGTTCTCAAGGCCTTGGCGGAGTGCGGCATCCCTGTGGAC c.2940
R | G C A Q V G V L K A L A E C G I P V D p.980
. . . . . . g.88179
ATGGTGGGAGGCACGTCCATCGGGGCCTTCGTGGGTGCCCTGTACTCTGAGGAGCGGAAC c.3000
M V G G T S I G A F V G A L Y S E E R N p.1000
. . . | 27 . . g.91099
TACAGCCAGATGCGGATCCGGGCCAAGCAGTGGGCCGAG | GGCATGACGTCCTTGATGAAG c.3060
Y S Q M R I R A K Q W A E | G M T S L M K p.1020
. . . . . . g.91159
GCCGCGCTGGACCTCACCTACCCCATCACGTCCATGTTCTCCGGAGCCGGCTTCAACAGC c.3120
A A L D L T Y P I T S M F S G A G F N S p.1040
. . . | 28 . . . g.91363
AGCATCTTCAGCGTCTTCAAGGACCAGCAGATCGAG | GACCTGTGGATTCCTTATTTCGCC c.3180
S I F S V F K D Q Q I E | D L W I P Y F A p.1060
. . . . | 29 . . g.92017
ATCACCACCGACATCACAGCCTCGGCCATGCGGGTCCACACCGACG | GCTCCCTGTGGTGG c.3240
I T T D I T A S A M R V H T D G | S L W W p.1080
. . . . . . g.92077
TACGTGCGTGCCAGCATGTCCCTGTCCGGTTACATGCCCCCTCTCTGTGACCCGAAGGAC c.3300
Y V R A S M S L S G Y M P P L C D P K D p.1100
. . . . | 30 . . g.92718
GGACACCTGCTGATGGACGGGGGCTACATCAACAACCTCCCAG | CGGATGTGGCCCGGTCC c.3360
G H L L M D G G Y I N N L P A | D V A R S p.1120
. . . . . . g.92778
ATGGGGGCAAAAGTGGTGATCGCCATTGACGTGGGCAGCCGAGATGAGACGGACCTCACC c.3420
M G A K V V I A I D V G S R D E T D L T p.1140
. . . . . . g.92838
AACTATGGGGATGCGCTGTCTGGGTGGTGGCTGCTGTGGAAACGCTGGAACCCCTTGGCC c.3480
N Y G D A L S G W W L L W K R W N P L A p.1160
. | 31 . . . . . g.93251
ACGAAAGTCAAG | GTGTTGAACATGGCAGAGATTCAGACGCGCCTGGCCTACGTGTGTTGC c.3540
T K V K | V L N M A E I Q T R L A Y V C C p.1180
. . . . . . g.93311
GTGCGGCAGCTGGAGGTGGTGAAGAGCAGTGACTACTGCGAGTACCTGCGCCCCCCCATC c.3600
V R Q L E V V K S S D Y C E Y L R P P I p.1200
. . . . | 32 . . g.93508
GACAGCTACAGCACCCTGGACTTCGGCAAGTTCAACGAGATCTGC | GAAGTGGGCTACCAG c.3660
D S Y S T L D F G K F N E I C | E V G Y Q p.1220
. . . . . . g.93568
CACGGGCGCACGGTGTTTGACATCTGGGGCCGCAGCGGCGTGCTGGAGAAGATGCTCCGC c.3720
H G R T V F D I W G R S G V L E K M L R p.1240
. . . | 33 . . . g.93938
GACCAGCAGGGGCCGAGCAAGAAGCCCGCGAGTGCG | GTCCTCACCTGTCCCAACGCCTCC c.3780
D Q Q G P S K K P A S A | V L T C P N A S p.1260
. . . . . . g.93998
TTCACGGACCTTGCCGAAATTGTGTCTCGCATTGAGCCCGCCAAGCCCGCCATGGTGGAT c.3840
F T D L A E I V S R I E P A K P A M V D p.1280
| 34 . . . . . . g.94856
G | ACGAATCTGACTACCAGACGGAGTACGAGGAGGAGCTGCTGGACGTCCCCAGGGATGCA c.3900
D | E S D Y Q T E Y E E E L L D V P R D A p.1300
. . . . | 35 . . g.95073
TACGCAGACTTCCAGAGCACCTCAGCCCAGCAGGGCTCAGACTTG | GAGGACGAGTCCTCA c.3960
Y A D F Q S T S A Q Q G S D L | E D E S S p.1320
. . . . . . g.95133
CTGCGGCATCGACACCCCAGTCTGGCTTTCCCAAAACTGTCTGAGGGCTCCTCTGACCAG c.4020
L R H R H P S L A F P K L S E G S S D Q p.1340
g.95142
GACGGGTAG c.4029
D G X p.1342
. . . . . . g.95202
aggcctctgctaaagagcccggatgcagcgtcttccgtgggactgtccccaaggctgagg c.*60
. . . . . . g.95262
ctcctgccaagtcctaggggcctctgtacctgccctgctggaagccctgacttccccggg c.*120
. . . . . . g.95322
gccccaggctgtgttagggttctctgggcctcttctttgtaccagcagccctgcatacag c.*180
. . . . . . g.95382
ggccctgtgagcccccctgcagtcctgtgaggcccctgaagctctgtgaggcccctgaag c.*240
. . . . . . g.95442
ctctgtgaaccccctgcagccctgtgaggccccccgaagccctgtgaggccccccgaagc c.*300
. . . . . . g.95502
cctgtgaaccacctgctgccctgtgaggcccccaaagccctgtgaactgcctgctgtcct c.*360
. . . . . . g.95562
gtgaactgcctgctgccctgtgaggtgtgggagccctgatgctgccgtgtgatgtttcaa c.*420
. . g.95582
taaaggtggatctcactgtt c.*440
(downstream sequence)
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