(used for variant description)
(last modified January 13, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_002863.4 in the PYGL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012796.1, covering PYGL transcript NM_002863.4.
(upstream sequence)
g.5007
aaacttt c.-121
. . . . . . g.5067
cgtgcgcgttgaaagctgctggcgcggcggggcggactccacccctgcccggcagcccag c.-61
. . . . . . g.5127
cgcctccggccgcacttccagctctctgcgcagcccgccgcgcagcccgccgccccagcc c.-1
. . . . . . g.5187
ATGGCGAAGCCCCTGACGGACCAGGAGAAGCGGCGGCAGATCAGCATCCGCGGCATCGTG c.60
M A K P L T D Q E K R R Q I S I R G I V p.20
. . . . . . g.5247
GGCGTGGAGAACGTGGCAGAGCTGAAGAAGAGTTTCAACCGGCACCTGCACTTCACGCTG c.120
G V E N V A E L K K S F N R H L H F T L p.40
. . . . . . g.5307
GTCAAGGACCGCAACGTGGCCACCACCCGCGACTACTACTTCGCGCTGGCGCACACGGTG c.180
V K D R N V A T T R D Y Y F A L A H T V p.60
. . . . . . g.5367
CGCGACCACCTGGTGGGGCGCTGGATCCGCACGCAGCAGCACTACTACGACAAGTGCCCC c.240
R D H L V G R W I R T Q Q H Y Y D K C P p.80
| 02 . . . . . . g.11750
AAG | AGGGTATATTACCTCTCTCTGGAATTTTACATGGGCCGAACATTACAGAACACCATG c.300
K | R V Y Y L S L E F Y M G R T L Q N T M p.100
. . . . | 03 . . g.14360
ATCAACCTCGGTCTGCAAAATGCCTGTGATGAGGCCATTTACCAG | CTTGGATTGGATATA c.360
I N L G L Q N A C D E A I Y Q | L G L D I p.120
. . . . . . g.14420
GAAGAGTTAGAAGAAATTGAAGAAGATGCTGGACTTGGCAATGGTGGTCTTGGGAGACTT c.420
E E L E E I E E D A G L G N G G L G R L p.140
| 04 . . . . . . g.17810
GCTG | CCTGCTTCTTGGATTCCATGGCAACCCTGGGACTTGCAGCCTATGGATACGGCATT c.480
A A | C F L D S M A T L G L A A Y G Y G I p.160
. . . . | 05 . g.25442
CGGTATGAATATGGGATTTTCAATCAGAAGATCCGAGATGGATGGCAG | GTAGAAGAAGCA c.540
R Y E Y G I F N Q K I R D G W Q | V E E A p.180
. . . . . . g.25502
GATGATTGGCTCAGATATGGAAACCCTTGGGAGAAGTCCCGCCCAGAATTCATGCTGCCT c.600
D D W L R Y G N P W E K S R P E F M L P p.200
. . . . . . g.25562
GTGCACTTCTATGGAAAAGTAGAACACACCAACACCGGGACCAAGTGGATTGACACTCAA c.660
V H F Y G K V E H T N T G T K W I D T Q p.220
| 06 . . . . . . g.28523
| GTGGTCCTGGCTCTGCCATATGACACCCCCGTGCCCGGCTACATGAATAACACTGTCAAC c.720
| V V L A L P Y D T P V P G Y M N N T V N p.240
. . . . . | 07 . g.28915
ACCATGCGCCTCTGGTCTGCTCGGGCACCAAATGACTTTAACCTCAGAGACT | TTAATGTT c.780
T M R L W S A R A P N D F N L R D F | N V p.260
. . . . . . g.28975
GGAGACTACATTCAGGCTGTGCTGGACCGAAACCTGGCCGAGAACATCTCCCGGGTCCTC c.840
G D Y I Q A V L D R N L A E N I S R V L p.280
. | 08 . . . . . g.32470
TATCCCAATGACAAT | TTTTTTGAAGGGAAGGAGCTAAGATTGAAGCAGGAATACTTTGTG c.900
Y P N D N | F F E G K E L R L K Q E Y F V p.300
. . . . . . g.32530
GTGGCTGCAACCTTGCAAGATATCATCCGCCGTTTCAAAGCCTCCAAGTTTGGCTCCACC c.960
V A A T L Q D I I R R F K A S K F G S T p.320
. . . | 09 . . g.32817
CGTGGTGCAGGAACTGTGTTTGATGCCTTCCCGGATCAG | GTGGCCATCCAGCTGAATGAC c.1020
R G A G T V F D A F P D Q | V A I Q L N D p.340
. . . . . . g.32877
ACTCACCCTGCACTCGCGATCCCTGAGCTGATGAGGATTTTTGTGGATATTGAAAAACTG c.1080
T H P A L A I P E L M R I F V D I E K L p.360
. | 10 . . . . . g.33607
CCCTGGTCCAAG | GCATGGGAGCTCACCCAGAAGACCTTCGCCTACACCAACCACACAGTG c.1140
P W S K | A W E L T Q K T F A Y T N H T V p.380
. . . . . . g.33667
CTCCCGGAAGCCCTGGAGCGCTGGCCCGTGGACCTGGTGGAGAAGCTGCTCCCTCGACAT c.1200
L P E A L E R W P V D L V E K L L P R H p.400
. . . | 11 . . g.34052
TTGGAAATCATTTATGAGATAAATCAGAAGCATTTAGAT | AGAATTGTGGCCTTGTTTCCT c.1260
L E I I Y E I N Q K H L D | R I V A L F P p.420
. . . . . . g.34112
AAAGATGTGGACCGTCTGAGAAGGATGTCTCTGATAGAAGAGGAAGGAAGCAAAAGGATC c.1320
K D V D R L R R M S L I E E E G S K R I p.440
. . . . . . g.34172
AACATGGCCCATCTCTGCATTGTCGGTTCCCATGCTGTGAATGGCGTGGCTAAAATCCAC c.1380
N M A H L C I V G S H A V N G V A K I H p.460
. . | 12 . . . . g.34752
TCAGACATCGTGAAGACTAAAGT | ATTCAAGGACTTCAGTGAGCTAGAACCTGACAAGTTT c.1440
S D I V K T K V | F K D F S E L E P D K F p.480
. . . . . . g.34812
CAGAATAAAACCAATGGGATCACTCCAAGGCGCTGGCTCCTACTCTGCAACCCAGGACTT c.1500
Q N K T N G I T P R R W L L L C N P G L p.500
. | 13 . . . . g.36442
GCAGAGCTCATAGCAGAG | AAAATTGGAGAAGACTATGTGAAAGACCTGAGCCAGCTGACG c.1560
A E L I A E | K I G E D Y V K D L S Q L T p.520
. . . . . . g.36502
AAGCTCCACAGCTTCCTGGGTGATGATGTCTTCCTCCGGGAACTCGCCAAGGTGAAGCAG c.1620
K L H S F L G D D V F L R E L A K V K Q p.540
| 14 . . . . . . g.37287
| GAGAATAAGCTGAAGTTTTCTCAGTTCCTGGAGACGGAGTACAAAGTGAAGATCAACCCA c.1680
| E N K L K F S Q F L E T E Y K V K I N P p.560
. . . . . . g.37347
TCCTCCATGTTTGATGTCCAGGTGAAGAGGATACATGAGTACAAGCGACAGCTCTTGAAC c.1740
S S M F D V Q V K R I H E Y K R Q L L N p.580
. . | 15 . . . g.37526
TGTCTGCATGTGATCACGATGTACAACC | GCATTAAGAAAGACCCTAAGAAGTTATTCGTG c.1800
C L H V I T M Y N R | I K K D P K K L F V p.600
. . | 16. . . . g.37692
CCAAGGACAGTTATCATTGGTGGTAAA | GCTGCCCCAGGATATCACATGGCCAAAATGATC c.1860
P R T V I I G G K | A A P G Y H M A K M I p.620
. . . . . . g.37752
ATAAAGCTGATCACTTCAGTGGCAGATGTGGTGAACAATGACCCTATGGTTGGAAGCAAG c.1920
I K L I T S V A D V V N N D P M V G S K p.640
. . . . | 17 . g.39439
TTGAAAGTCATCTTCTTGGAGAACTACAGAGTATCTCTTGCTGAAAAAG | TCATTCCAGCC c.1980
L K V I F L E N Y R V S L A E K V | I P A p.660
. . . . . . g.39499
ACAGATCTGTCAGAGCAGATTTCCACTGCAGGCACCGAAGCCTCGGGGACAGGCAATATG c.2040
T D L S E Q I S T A G T E A S G T G N M p.680
. . . . . . g.39559
AAGTTCATGCTAAATGGGGCCCTAACTATCGGGACCATGGATGGGGCCAATGTGGAAATG c.2100
K F M L N G A L T I G T M D G A N V E M p.700
. . . . . . g.39619
GCAGAAGAAGCTGGGGAAGAGAACCTGTTCATCTTTGGCATGAGGATAGATGATGTGGCT c.2160
A E E A G E E N L F I F G M R I D D V A p.720
. | 18. . . . . g.40618
GCTTTGGACAAGAAAGG | GTACGAGGCAAAAGAATACTATGAGGCACTTCCAGAGCTGAAG c.2220
A L D K K G | Y E A K E Y Y E A L P E L K p.740
. . . . . . g.40678
CTGGTCATTGATCAAATTGACAATGGCTTTTTTTCTCCCAAGCAGCCTGACCTCTTCAAA c.2280
L V I D Q I D N G F F S P K Q P D L F K p.760
. . . | 19 . . . g.41221
GATATCATCAACATGCTATTTTATCATGACAG | GTTTAAAGTCTTTGCAGACTACGAAGCC c.2340
D I I N M L F Y H D R | F K V F A D Y E A p.780
. . . | 20 . . g.43995
TATGTCAAGTGTCAAGATAAAGTGAGTCAGCTGTACATG | AATCCAAAGGCCTGGAACACA c.2400
Y V K C Q D K V S Q L Y M | N P K A W N T p.800
. . . . . . g.44055
ATGGTACTCAAAAACATAGCTGCCTCGGGGAAATTCTCCAGTGACCGAACAATTAAAGAA c.2460
M V L K N I A A S G K F S S D R T I K E p.820
. . . . . . g.44115
TATGCCCAAAACATCTGGAACGTGGAACCTTCAGATCTAAAGATTTCTCTATCCAATGAA c.2520
Y A Q N I W N V E P S D L K I S L S N E p.840
. . g.44139
TCTAACAAAGTCAATGGAAATTGA c.2544
S N K V N G N X p.847
. . . . . . g.44199
actctagaattgtctctagaaaacatagcttcttactgaacttgaacatttttacaacat c.*60
. . . . . . g.44259
tcactggtttttgttttgttagctaataatctataatagttgagtatctctgggaatggg c.*120
. . . . . g.44314
gagggaaattatatgtaatagagcttaaaaataaagtgtcaatttccaagggcta c.*175
(downstream sequence)
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