(used for variant description)
(last modified September 26, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_020647.2 in the JPH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering JPH1 transcript NM_020647.2.
(upstream sequence)
. . . . g.5040
tccgtgcccctgcggggagcgcgccggggctgccccccga c.-1
. . . . . . g.5100
ATGACGGGCGGAAGGTTCGACTTCGACGATGGCGGCACCTACTGCGGCGGCTGGGAGGAG c.60
M T G G R F D F D D G G T Y C G G W E E p.20
. . . . . . g.5160
GGCAAGGCGCACGGGCATGGCATCTGCACGGGGCCCAAGGGCCAGGGCGAGTACTCGGGC c.120
G K A H G H G I C T G P K G Q G E Y S G p.40
. . . . . . g.5220
TCCTGGTCGCACGGCTTCGAGGTGGTCGGAGGCTACACCTGGCCCAGCGGCAACACCTAC c.180
S W S H G F E V V G G Y T W P S G N T Y p.60
. . . . . . g.5280
CAGGGCTACTGGGCGCAGGGCAAGCGGCACGGGCTGGGGGTGGAGACGAAGGGCAAGTGG c.240
Q G Y W A Q G K R H G L G V E T K G K W p.80
. . . . . . g.5340
ATGTACCGGGGGGAGTGGTCACATGGTTTCAAGGGGCGCTACGGGGTCCGGCAGAGCCTG c.300
M Y R G E W S H G F K G R Y G V R Q S L p.100
. . . . . . g.5400
TGCACCCCCGCTCGCTACGAGGGTACCTGGAGTAACGGGCTGCAAGACGGGTACGGCGTG c.360
C T P A R Y E G T W S N G L Q D G Y G V p.120
. | 02 . . . . g.10748
GAGACCTACGGGGACGGAG | GTACCTACCAGGGCCAGTGGGCCGGAGGCATGCGGCATGGC c.420
E T Y G D G G | T Y Q G Q W A G G M R H G p.140
. . . . . . g.10808
TACGGCGTGCGCCAGAGCGTGCCCTACGGCATGGCCACGGTGATCCGCTCACCGCTGCGT c.480
Y G V R Q S V P Y G M A T V I R S P L R p.160
. . . . . . g.10868
ACCTCGCTGGCCTCGCTGCGCAGCGAGCAGAGCAATGGCAGCGTGCTCCACGACGCCGCA c.540
T S L A S L R S E Q S N G S V L H D A A p.180
. . . . . . g.10928
GCCGCCGCCGACAGCCCGGCCGGCACCCGCGGCGGTTTCGTGCTCAACTTCCACGCAGAC c.600
A A A D S P A G T R G G F V L N F H A D p.200
. . . . . . g.10988
GCTGAGCTAGCGGGCAAGAAGAAGGGCGGCCTCTTCCGGAGGGGCTCCCTTCTTGGAAGC c.660
A E L A G K K K G G L F R R G S L L G S p.220
. . . . . . g.11048
ATGAAACTTCGCAAGTCCGAATCCAAGTCTTCCATCTCGAGCAAGCGCAGCTCTGTCCGC c.720
M K L R K S E S K S S I S S K R S S V R p.240
. . . . . . g.11108
AGCGACGCGGCCATGAGCAGAATTAGTTCCAGCGATGCCAACTCCACGATCAGCTTTGGC c.780
S D A A M S R I S S S D A N S T I S F G p.260
. . . . . . g.11168
GATGTAGATTGTGATTTTTGCCCGGTGGAAGACCACGTGGACGCCACCACCACGGAAACC c.840
D V D C D F C P V E D H V D A T T T E T p.280
. . . . . . g.11228
TACATGGGCGAGTGGAAGAACGACAAGCGCAACGGCTTCGGCGTTAGCGAGCGCTCCAAT c.900
Y M G E W K N D K R N G F G V S E R S N p.300
. . . . . . g.11288
GGCATGAAGTATGAAGGGGAGTGGGCAAATAACAAGAGGCATGGATATGGCTGTACCGTG c.960
G M K Y E G E W A N N K R H G Y G C T V p.320
. . . . . . g.11348
TTTCCTGACGGCTCCAAAGAAGAGGGAAAATACAAAAATAATATTCTGGTCCGTGGGATA c.1020
F P D G S K E E G K Y K N N I L V R G I p.340
. . . . . . g.11408
AGGAAGCAGCTTATACCAATAAGACATACAAAAACTAGGGAGAAGGTGGACAGAGCAATT c.1080
R K Q L I P I R H T K T R E K V D R A I p.360
. . . . . | 03 g.66825
GAAGGCGCCCAAAGGGCAGCTGCCATGGCCAGAACCAAAGTGGAAATAGCAAATTCAAG | G c.1140
E G A Q R A A A M A R T K V E I A N S R | p.380
. . . . . . g.66885
ACTGCACATGCCAGAGCGAAGGCCGATGCCGCCGACCAGGCCGCGCTGGCCGCTCGCCAG c.1200
T A H A R A K A D A A D Q A A L A A R Q p.400
. . . . . | 04 g.81154
GAGTGCGACATCGCGAGAGCTGTGGCCAGGGAGCTGTCACCTGATTTCTACCAACCAG | GC c.1260
E C D I A R A V A R E L S P D F Y Q P G | p.420
. . . . . . g.81214
CCTGATTACGTCAAACAGAGATTTCAGGAAGGTGTAGATGCTAAAGAAAATCCAGAAGAA c.1320
P D Y V K Q R F Q E G V D A K E N P E E p.440
. . . . . . g.81274
AAGGTACCAGAAAAGCCACCTACACCAAAGGAGTCTCCTCATTTTTATCGCAAAGGCACG c.1380
K V P E K P P T P K E S P H F Y R K G T p.460
. . . . . . g.81334
ACACCCCCAAGATCTCCTGAGGCAAGTCCCAAACACAGCCACTCTCCTGCTTCCTCCCCA c.1440
T P P R S P E A S P K H S H S P A S S P p.480
. . . . . . g.81394
AAGCCCCTGAAGAAGCAAAACCCCAGCTCAGGGGCGAGACTCAACCAAGACAAAAGGAGT c.1500
K P L K K Q N P S S G A R L N Q D K R S p.500
. . . . . . g.81454
GTGGCTGATGAGCAGGTGACGGCCATTGTCAATAAGCCCTTGATGTCAAAGGCTCCCACG c.1560
V A D E Q V T A I V N K P L M S K A P T p.520
. . . . . . g.81514
AAGGAGGCAGGAGCGGTTGTGCCCCAGTCCAAGTACTCTGGCCGCCACCACATCCCCAAC c.1620
K E A G A V V P Q S K Y S G R H H I P N p.540
. . . . . . g.81574
CCCAGTAACGGGGAGCTGCATTCTCAGTATCACGGCTACTACGTGAAGCTGAACGCCCCC c.1680
P S N G E L H S Q Y H G Y Y V K L N A P p.560
. . . . . . g.81634
CAGCACCCTCCAGTAGACGTGGAGGACGGCGATGGATCCAGCCAGTCTTCCTCAGCACTG c.1740
Q H P P V D V E D G D G S S Q S S S A L p.580
. . . . . . g.81694
GTGCACAAGCCATCCGCTAACAAGTGGAGTCCCTCCAAATCTGTGACAAAACCAGTTGCC c.1800
V H K P S A N K W S P S K S V T K P V A p.600
. . . . . . g.81754
AAAGAAAGCAAAGCTGAGCCAAAAGCTAAGAAGTCTGAACTTGCTATACCAAAGAATCCA c.1860
K E S K A E P K A K K S E L A I P K N P p.620
. . . . | 05 . . g.89039
GCAAGCAACGATTCATGCCCTGCTTTGGAAAAAGAAGCCAATTCA | GGCCCTAATTCAATC c.1920
A S N D S C P A L E K E A N S | G P N S I p.640
. . . . . . g.89099
ATGATTGTCCTTGTCATGCTGTTGAATATCGGGTTGGCCATTCTTTTTGTTCACTTTCTA c.1980
M I V L V M L L N I G L A I L F V H F L p.660
g.89105
ACTTGA | c.1987
T X p.661
. | 06 . . . . . g.89337
ttggaattaggaaag | tgaagtcctgacaactagtggtgtgttagcccacagttctctgca c.*60
. . . . . . g.89397
gtggtgccgtcagccctttaaatggcccaccccaggcagactcagacacagggaaggagg c.*120
. . . . . . g.89457
cttggaattaggatgggatcgcgagagagatgaaacttggaaaattcagccagaggacct c.*180
. . . . . . g.89517
gttcggttcccctgggagtgctttgtggctttggggtcctctgggagctgaagcacacgg c.*240
. . . . . . g.89577
ccatgttggagagcaaaacttaataataattcttttttaaaatctgctgaagcagcccca c.*300
. . . . . . g.89637
tccggcgaagttcttggcattggctactccatctgtcctagcagagtgtgactaaactgg c.*360
. . . . . . g.89697
aaatgtatggagctgcattttttttttttttttgatggaagtcaacagctgccttactat c.*420
. . . . . . g.89757
tttaccatctgacgtttttagtagggagctggggaaacgactgcccgaggaatgcggtcg c.*480
. . . . . . g.89817
gaggattgtgttgctgtggacgtggttccaacattcactcctatctcattagaagaaata c.*540
. . . . . . g.89877
ggtagcagcatcactcaccagtcttatgccatgacctgctgctttaacatctcctggaat c.*600
. . . . . . g.89937
gttctgggagagaacgtttcgtttgcttgtgcacgactctgttcatttttgctgtttatt c.*660
. . . . . . g.89997
taaatctgacgtatagtcatctaccacctgcggtcctggccggacgaaacacacgtgttg c.*720
. . . . . . g.90057
catctcaaggaaaagaaacaacaaaatgctagtgaaaatgtgcttattttgatagcaata c.*780
. . . . . . g.90117
taccatcttttatgtcatttattcttcctatacttgtaaaaggttatttatctttaaaat c.*840
. . . . . . g.90177
ttagcaatttgaagacactatgccttcctaagaactaatttaattctaaatatttttaac c.*900
. . . . . . g.90237
attactgaggtgaattatttatgcacttaggaagtgctaaattttaaaagctgaaacaca c.*960
. . . . . . g.90297
acagaattctaagaaatatagtccaaacgttgcatggattgcagtaatcagtgtttaaag c.*1020
. . . . . . g.90357
gattcagtttctttgctgacgtactttacaaccaaataaaatcttgtcggtggctgtgtt c.*1080
. . . . . . g.90417
aattcccatgaaagttaagcaagatgctattaataaactgctctgctctttcttgttttc c.*1140
. . . . . . g.90477
tttttccaacttaaatttctgttgaatacattcaggtagaacataaagccttgttcaatc c.*1200
. . . . . . g.90537
actgcctctcagttttctgcctttcctgtttttcaaagtccttttgtaatttcatttcac c.*1260
. . . . . . g.90597
attttaaaggcttagacatttttattttaaatatgtgtcttttacagtcttttgtcattc c.*1320
. . . . . . g.90657
tgacatttctggatttttgctgttttataatttaccctttgttattcagaagcatgctta c.*1380
. . . . . . g.90717
cttatagaaactaaatggtctttataaaagtaattacttaaaaagaaatcaggggaagaa c.*1440
. . . . . . g.90777
agatatctatctaatctattaaatctttataaaacattacattgcagagggggagctact c.*1500
. . . . . . g.90837
cctaaatattttcatgatttgcatggtttaatcagatttttttttttttttacaccatat c.*1560
. . . . . . g.90897
tagctaccttttcaatggagaagagacagttcacacaattccctggttagcacagatgtg c.*1620
. . . . . . g.90957
gactgagtgctttgtcacctgcagggtagtaacccagtgatgtttcttacagaagcacaa c.*1680
. . . . . . g.91017
tatgttgaaaatcctgggtgtgaccaatatggaataaagaagaaggcagaaagagagcaa c.*1740
. . . . . . g.91077
atgaaaaatttcaacttgtatattcattttttacattttgctttgacttttaaatttagg c.*1800
. . . . . . g.91137
aagtccgtttttacctgagaacaaatgtttaaagttcctgcgtcactctcagtactctca c.*1860
. . . . . . g.91197
ctgcccctcccaaaccctatagctccttacgctgggaaagctggttttttaaaaaaataa c.*1920
. . . . . . g.91257
taataaaatatttaatcttattaagtgttcatttaaaatgcgtaatgctttggaaataat c.*1980
. . . . . . g.91317
gggtaacagatagcgagaggatatgtttataaagtgagcatgttggtcccatttataaat c.*2040
. . . . . . g.91377
atatgtatgatttataagcttttttaaaacaaagctcaaattgttggtatttttctaaaa c.*2100
. . . . . . g.91437
tgtgcacagctgtattttacatgaaggctctttctaatgggttgttatactgtactcaac c.*2160
. . . . . . g.91497
attttggacagcacatgaagtctgccaatgtacttaataaaacatgactttgtttattta c.*2220
. . . . . . g.91557
aagtttcttgctgtgaaaaagaactccctacctgtgagttcctttatttataattcttga c.*2280
. . . . . . g.91617
aaccaaaatgtataatgtacagttttcacaactgtatctgctctaataaaaaaaagttgg c.*2340
g.91624
ttattaa c.*2347
(downstream sequence)
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