(used for variant description)
(last modified July 6, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001563.2 in the IMPG1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_041812.1, covering IMPG1 transcript NM_001563.2.
(upstream sequence)
. g.5010
taaaccaaga c.-121
. . . . . . g.5070
aggttatcctcaatcatctggtatcaatatataattatttttcacatttctgttactttt c.-61
. . . . . . g.5130
taatgagatttgaggttgttctgtgattgttatcagaattaccaatgcacaaaagccaga c.-1
. . . . . . g.5190
ATGTATTTGGAAACTAGAAGAGCTATTTTTGTTTTTTGGATTTTTCTCCAAGTTCAAGGA c.60
M Y L E T R R A I F V F W I F L Q V Q G p.20
| 02. . . . . . g.35545
ACCAAAG | ATATCTCCATTAACATATACCATTCTGAAACTAAAGACATAGACAATCCCCCA c.120
T K D | I S I N I Y H S E T K D I D N P P p.40
. . . . . . g.35605
AGAAATGAAACAACTGAAAGTACTGAAAAAATGTACAAAATGTCAACTATGAGACGAATA c.180
R N E T T E S T E K M Y K M S T M R R I p.60
. . . . . . g.35665
TTCGATTTGGCAAAGCATCGAACAAAAAGATCCGCATTTTTCCCAACGGGGGTTAAAGTC c.240
F D L A K H R T K R S A F F P T G V K V p.80
. . . . . . g.35725
TGTCCACAGGAATCCATGAAACAGATTTTAGACAGTCTTCAAGCTTATTATAGATTGAGA c.300
C P Q E S M K Q I L D S L Q A Y Y R L R p.100
| 03 . . . . . . g.42890
G | TGTGTCAGGAAGCAGTATGGGAAGCATATCGGATCTTTCTGGATCGCATCCCTGACACA c.360
V | C Q E A V W E A Y R I F L D R I P D T p.120
. . . . . . g.42950
GGGGAATATCAGGACTGGGTCAGCATCTGCCAGCAGGAGACCTTCTGCCTCTTTGACATT c.420
G E Y Q D W V S I C Q Q E T F C L F D I p.140
. . . . | 04 . g.43287
GGAAAAAACTTCAGCAATTCCCAGGAGCACCTGGATCTTCTCCAGCAG | AGAATAAAACAG c.480
G K N F S N S Q E H L D L L Q Q | R I K Q p.160
. | 05. . . . . g.52403
AGAAGTTTCCCTGACAG | AAAAGATGAAATATCTGCAGAGAAGACATTGGGAGAGCCTGGT c.540
R S F P D R | K D E I S A E K T L G E P G p.180
. . | 06 . . . . g.55437
GAAACCATTGTCATTTCAACAG | ATGTTGCCAACGTCTCACTTGGGCCTTTCCCTCTCACT c.600
E T I V I S T D | V A N V S L G P F P L T p.200
. . . . . . g.55497
CCTGATGACACCCTCCTCAATGAAATTCTCGATAATACACTCAACGACACCAAGATGCCT c.660
P D D T L L N E I L D N T L N D T K M P p.220
| 07 . . . . . . g.58814
ACAACA | GAAAGAGAAACAGAATTCGCTGTGTTGGAGGAGCAGAGGGTGGAGCTCAGCGTC c.720
T T | E R E T E F A V L E E Q R V E L S V p.240
. . . . . . g.58874
TCTCTGGTAAACCAGAAGTTCAAGGCAGAGCTCGCTGACTCCCAGTCCCCATATTACCAG c.780
S L V N Q K F K A E L A D S Q S P Y Y Q p.260
. . | 08. . . . g.66427
GAGCTAGCAGGAAAGTCCCAACTTCAG | ATGCAAAAGATATTTAAGAAACTTCCAGGATTC c.840
E L A G K S Q L Q | M Q K I F K K L P G F p.280
. . | 09 . . | 10. . g.72097
AAAAAAATCCATGTGTTAGGATTTAG | ACCAAAGAAAGAAAAAGATGG | CTCAAGCTCCACA c.900
K K I H V L G F R | P K K E K D G | S S S T p.300
. . . . . . g.72157
GAGATGCAACTTACGGCCATCTTTAAGAGACACAGTGCAGAAGCAAAAAGCCCTGCAAGT c.960
E M Q L T A I F K R H S A E A K S P A S p.320
. . . . . . g.72217
GACCTCCTGTCTTTTGATTCCAACAAAATTGAAAGTGAGGAAGTCTATCATGGAACCATG c.1020
D L L S F D S N K I E S E E V Y H G T M p.340
. . . . . . g.72277
GAGGAGGACAAGCAACCAGAAATCTATCTCACAGCTACAGACCTCAAAAGGCTGATCAGC c.1080
E E D K Q P E I Y L T A T D L K R L I S p.360
. . . . . | 11 . g.73673
AAAGCACTAGAGGAAGAACAATCTTTGGATGTGGGGACAATTCAGTTCACTGATG | AAATT c.1140
K A L E E E Q S L D V G T I Q F T D E | I p.380
. . . . . . g.73733
GCTGGATCACTGCCAGCCTTTGGTCCTGACACCCAATCAGAGCTGCCCACATCTTTTGCT c.1200
A G S L P A F G P D T Q S E L P T S F A p.400
. | 12 . . . . . g.74670
GTTATAACAGAG | GATGCTACTTTGAGTCCAGAACTTCCTCCTGTTGAACCCCAGCTTGAG c.1260
V I T E | D A T L S P E L P P V E P Q L E p.420
. . . | 13 . . . g.126553
ACAGTGGACGGAGCAGAGCATGGTCTACCTG | ACACTTCTTGGTCTCCACCTGCTATGGCC c.1320
T V D G A E H G L P D | T S W S P P A M A p.440
. . . . . . g.126613
TCTACCTCCCTGTCAGAAGCTCCACCTTTCTTTATGGCATCAAGCATCTTCTCTCTGACT c.1380
S T S L S E A P P F F M A S S I F S L T p.460
. . . . . . g.126673
GATCAAGGCACCACAGATACAATGGCCACTGACCAGACAATGCTAGTACCAGGGCTCACC c.1440
D Q G T T D T M A T D Q T M L V P G L T p.480
. . . . . . g.126733
ATCCCCACCAGTGATTATTCTGCAATCAGCCAACTGGCTCTGGGAATTTCACATCCACCT c.1500
I P T S D Y S A I S Q L A L G I S H P P p.500
. . . . . . g.126793
GCATCTTCAGATGACAGCCGATCAAGTGCAGGTGGCGAAGATATGGTCAGACACCTAGAT c.1560
A S S D D S R S S A G G E D M V R H L D p.520
. . . . . . g.126853
GAAATGGATCTGTCTGACACTCCTGCCCCATCTGAGGTACCAGAGCTCAGCGAATATGTT c.1620
E M D L S D T P A P S E V P E L S E Y V p.540
. . . . . . g.126913
TCTGTCCCAGATCATTTCTTGGAGGATACCACTCCTGTCTCAGCTTTACAGTATATCACC c.1680
S V P D H F L E D T T P V S A L Q Y I T p.560
. . . . . . g.126973
ACTAGTTCTATGACCATTGCCCCCAAGGGCCGAGAGCTGGTAGTGTTCTTCAGTCTGCGT c.1740
T S S M T I A P K G R E L V V F F S L R p.580
. . . . . . g.127033
GTTGCTAACATGGCCTTCTCCAACGACCTGTTCAACAAGAGCTCTCTGGAGTACCGAGCT c.1800
V A N M A F S N D L F N K S S L E Y R A p.600
. . | 14 . . . . g.130121
CTGGAGCAACAATTCACACAGCTG | CTGGTTCCATATCTACGATCCAATCTTACAGGATTT c.1860
L E Q Q F T Q L | L V P Y L R S N L T G F p.620
. . . . . . g.130181
AAGCAACTTGAAATACTTAACTTCAGAAACGGGAGTGTGATTGTGAATAGCAAAATGAAG c.1920
K Q L E I L N F R N G S V I V N S K M K p.640
. . . . . . g.130241
TTTGCTAAGTCAGTGCCGTATAACCTCACCAAGGCTGTGCACGGGGTCTTGGAGGATTTT c.1980
F A K S V P Y N L T K A V H G V L E D F p.660
. . . . . . g.130301
CGTTCTGCTGCAGCCCAACAACTCCATCTGGAAATAGACAGCTACTCTCTCAACATTGAA c.2040
R S A A A Q Q L H L E I D S Y S L N I E p.680
| 15 . . . . . . g.146523
CCAG | CTGATCAAGCAGATCCCTGCAAGTTCCTGGCCTGCGGCGAATTTGCCCAATGTGTA c.2100
P A | D Q A D P C K F L A C G E F A Q C V p.700
. . . . . . g.146583
AAGAACGAACGGACTGAGGAAGCGGAGTGTCGCTGCAAACCAGGATATGACAGCCAGGGG c.2160
K N E R T E E A E C R C K P G Y D S Q G p.720
. . . . . . g.146643
AGCCTGGACGGTCTGGAACCAGGCCTCTGTGGCCCTGGCACAAAGGAATGCGAGGTCCTC c.2220
S L D G L E P G L C G P G T K E C E V L p.740
. . | 16 . . . . g.153949
CAGGGAAAGGGAGCTCCATGCAG | GTTGCCAGATCACTCTGAAAATCAAGCATACAAAACT c.2280
Q G K G A P C R | L P D H S E N Q A Y K T p.760
. . . | 17 . . . g.155476
AGTGTTAAAAAGTTCCAAAATCAACAAAATAACAAG | GTAATCAGTAAAAGAAATTCTGAA c.2340
S V K K F Q N Q Q N N K | V I S K R N S E p.780
. . . . . g.155530
TTACTGACCGTAGAATATGAAGAATTTAACCATCAAGATTGGGAAGGAAATTAA c.2394
L L T V E Y E E F N H Q D W E G N X p.797
. . . . . . g.155590
aaactgaaaatgtacaattatcatttaggctatctcaagagagatgatttgccttctcaa c.*60
. . . . . . g.155650
ggaaaatggagacaggcatattcatgggtcatcaaaatccagacatacagtcaacactga c.*120
. . . . . . g.155710
gaatcagcacacaccatatttcaaatatagaagagtcatgtacttggcaaccagtaaatt c.*180
. . . . . . g.155770
ctgaagaaaaagacacttacttattattaaaaccccaaatgcaatcagcgaaacatattt c.*240
. . . . . . g.155830
ttactattcttggatgatagtcaaaatgatcataagccaggtttgcttccaccttccctg c.*300
. . . . . . g.155890
aaaattttactcacagatcatttgcaacaagcatagcttacttattgtttagggactgaa c.*360
. . . . . . g.155950
caatttattgggaagcaaactctttatatgctagaaagtacatttaaaagatgactactt c.*420
. . . . . . g.156010
acgcagggagatgcaggtctctctaaacgcatgaatgtatgtagtgtgtaggcactgtag c.*480
. . . . . . g.156070
tgagtgtatatatgctccacactacgtctgataaacacaaacctcagtattcagttatta c.*540
. . . . . . g.156130
ggcacactagttttatacgcaactactgcttacatagtagactgttttgttgccaataat c.*600
. . . . . . g.156190
ctttgaattgttctttaaaagaaactgaggttcagatacacataccatggaaaaatctta c.*660
. . . . . . g.156250
cttttcttgttactacacaaagctattttaaagaagatgctatgttgggagaagggcgaa c.*720
. . g.156274
gttgtactatatgacataatcaat c.*744
(downstream sequence)
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