(used for variant description)
(last modified August 30, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_000170.2 in the GLDC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering GLDC transcript NM_000170.2.
(upstream sequence)
. g.5013
ctttgcgcgagtg c.-181
. . . . . . g.5073
tcttggttgagcgcagcgcccattcattgcccgcgagcgtccatccatctgtccggccga c.-121
. . . . . . g.5133
ctgtccagcgaaaggggctccaggccgggcgcagccgccacccgggggaccgaggccagg c.-61
. . . . . . g.5193
agaggggccaagagcgcggctgacccttgcgggccggggcaggggacggtggccgcggcc c.-1
. . . . . . g.5253
ATGCAGTCCTGTGCCAGGGCGTGGGGGCTGCGCCTGGGCCGCGGGGTCGGGGGCGGCCGC c.60
M Q S C A R A W G L R L G R G V G G G R p.20
. . . . . . g.5313
CGCCTGGCTGGGGGATCGGGGCCGTGCTGGGCGCCGCGGAGCCGGGACAGCAGCAGTGGC c.120
R L A G G S G P C W A P R S R D S S S G p.40
. . . . . . g.5373
GGCGGGGACAGCGCCGCGGCTGGGGCCTCGCGCCTCCTGGAGCGCCTTCTGCCCAGACAC c.180
G G D S A A A G A S R L L E R L L P R H p.60
. . . . . . g.5433
GACGACTTCGCTCGGAGGCACATCGGCCCTGGGGACAAAGACCAGAGAGAGATGCTGCAG c.240
D D F A R R H I G P G D K D Q R E M L Q p.80
. | 02 . . . . . g.6045
ACCTTGGGGCTGGCG | AGCATTGATGAATTGATCGAGAAGACGGTCCCTGCCAACATCCGT c.300
T L G L A | S I D E L I E K T V P A N I R p.100
. . . | 03 . . . g.30399
TTGAAAAGACCCTTGAAAATGGAAGACCCTGTTT | GTGAAAATGAAATCCTTGCAACTCTG c.360
L K R P L K M E D P V C | E N E I L A T L p.120
. . . . . . g.30459
CATGCCATTTCAAGCAAAAACCAGATCTGGAGATCGTATATTGGCATGGGCTATTATAAC c.420
H A I S S K N Q I W R S Y I G M G Y Y N p.140
. . . . . | 04 . g.40346
TGCTCAGTGCCACAGACGATTTTGCGGAACTTACTGGAGAACTCAGGATG | GATCACCCAG c.480
C S V P Q T I L R N L L E N S G W | I T Q p.160
. . . . . . g.40406
TATACTCCATACCAGCCTGAGGTGTCTCAGGGGAGGCTGGAGAGTTTACTCAACTACCAG c.540
Y T P Y Q P E V S Q G R L E S L L N Y Q p.180
. . . . . . g.40466
ACCATGGTGTGTGACATCACAGGCCTGGACATGGCCAATGCATCCCTGCTGGATGAGGGG c.600
T M V C D I T G L D M A N A S L L D E G p.200
. . . | 05 . . . g.44048
ACTGCAGCCGCAGAGGCACTGCAGCTGTGCTACAG | ACACAACAAGAGGAGGAAATTTCTC c.660
T A A A E A L Q L C Y R | H N K R R K F L p.220
. . . . . | 06 . g.45421
GTTGATCCCCGTTGCCACCCACAGACAATAGCTGTTGTCCAGACTCGAGCCAA | ATATACT c.720
V D P R C H P Q T I A V V Q T R A K | Y T p.240
. . . . . . g.45481
GGAGTCCTCACTGAGCTGAAGTTACCCTGTGAAATGGACTTCAGTGGAAAAGATGTCAGT c.780
G V L T E L K L P C E M D F S G K D V S p.260
. . . . . . g.45541
GGAGTGTTGTTCCAGTACCCAGACACGGAGGGGAAGGTGGAAGACTTTACGGAACTCGTG c.840
G V L F Q Y P D T E G K V E D F T E L V p.280
. . | 07 . . . . g.45947
GAGAGAGCTCATCAGAGTGGG | AGCCTGGCCTGCTGTGCTACTGACCTTTTAGCTTTGTGC c.900
E R A H Q S G | S L A C C A T D L L A L C p.300
. . . . . . g.46007
ATCTTGAGGCCACCTGGAGAATTTGGGGTAGACATCGCCCTGGGCAGCTCCCAGAGATTT c.960
I L R P P G E F G V D I A L G S S Q R F p.320
. . . . . . g.46067
GGAGTGCCACTGGGCTATGGGGGACCCCATGCAGCATTTTTTGCTGTCCGAGAAAGCTTG c.1020
G V P L G Y G G P H A A F F A V R E S L p.340
. . . | 08 . . g.48509
GTGAGAATGATGCCTGGAAGAATGGTGGGGGTAACAAG | AGATGCCACTGGGAAAGAAGTG c.1080
V R M M P G R M V G V T R | D A T G K E V p.360
. . . . . . g.48569
TATCGTCTTGCTCTTCAAACCAGGGAGCAACACATTCGGAGAGACAAGGCTACCAGCAAC c.1140
Y R L A L Q T R E Q H I R R D K A T S N p.380
. | 09 . . . . . g.55618
ATCTGTACAGCTCAG | GCCCTCTTGGCGAATATGGCTGCCATGTTTGCAATCTACCATGGT c.1200
I C T A Q | A L L A N M A A M F A I Y H G p.400
. . . . . . g.55678
TCCCATGGGCTGGAGCATATTGCTAGGAGGGTACATAATGCCACTTTGATTTTGTCAGAA c.1260
S H G L E H I A R R V H N A T L I L S E p.420
| 10 . . . . . . g.57761
G | GTCTCAAGCGAGCAGGGCATCAACTCCAGCATGACCTGTTCTTTGATACCTTGAAGATT c.1320
G | L K R A G H Q L Q H D L F F D T L K I p.440
. . . . . . g.57821
CAGTGTGGCTGCTCAGTGAAGGAGGTCTTGGGCAGGGCCGCTCAGCGGCAGATCAATTTT c.1380
Q C G C S V K E V L G R A A Q R Q I N F p.460
. . | 11 . . . . g.58508
CGGCTTTTTGAGGATGGCACA | CTTGGTATTTCTCTTGATGAAACAGTCAATGAAAAAGAT c.1440
R L F E D G T | L G I S L D E T V N E K D p.480
. . . . | 12 . . g.61418
CTGGACGATTTGTTGTGGATCTTTGGTTGTGAGTCATCTGCA | GAACTGGTTGCTGAAAGC c.1500
L D D L L W I F G C E S S A | E L V A E S p.500
. . . . . . g.61478
ATGGGAGAGGAGTGCAGAGGTATTCCAGGGTCTGTGTTCAAGAGGACCAGCCCGTTCCTC c.1560
M G E E C R G I P G S V F K R T S P F L p.520
. . | 13 . . . . g.62030
ACCCATCAAGTGTTCAACAG | CTACCACTCTGAAACAAACATTGTCCGGTACATGAAGAAA c.1620
T H Q V F N S | Y H S E T N I V R Y M K K p.540
. . . . | 14 . . g.62265
CTGGAAAATAAAGACATTTCCCTTGTTCACAGCATGATTCCACTG | GGATCCTGCACCATG c.1680
L E N K D I S L V H S M I P L | G S C T M p.560
. . | 15. . . . g.63442
AAACTGAACAGTTCGTCTGAACTCGCA | CCTATCACATGGAAAGAATTTGCAAACATCCAC c.1740
K L N S S S E L A | P I T W K E F A N I H p.580
. . . . . . g.63502
CCCTTTGTGCCTCTGGATCAAGCTCAAGGATATCAGCAGCTTTTCCGAGAGCTTGAGAAG c.1800
P F V P L D Q A Q G Y Q Q L F R E L E K p.600
. . . . . | 16 . g.85273
GATTTGTGTGAACTCACAGGTTATGACCAGGTCTGTTTCCAGCCAAACAG | CGGAGCCCAG c.1860
D L C E L T G Y D Q V C F Q P N S | G A Q p.620
. . . . . . g.85333
GGAGAATATGCTGGACTGGCCACTATCCGAGCCTACTTAAACCAGAAAGGAGAGGGGCAC c.1920
G E Y A G L A T I R A Y L N Q K G E G H p.640
| 17 . . . . . . g.92062
AGAACG | GTTTGCCTCATTCCGAAATCAGCACATGGGACCAACCCAGCAAGTGCCCACATG c.1980
R T | V C L I P K S A H G T N P A S A H M p.660
. . . . . . g.92122
GCAGGCATGAAGATTCAGCCTGTGGAGGTGGATAAATATGGGAATATCGATGCAGTTCAC c.2040
A G M K I Q P V E V D K Y G N I D A V H p.680
. | 18 . . . . . g.94438
CTCAAGGCCATG | GTGGATAAGCACAAGGAGAACCTAGCAGCTATCATGATTACATACCCA c.2100
L K A M | V D K H K E N L A A I M I T Y P p.700
. . . . . . g.94498
TCCACCAATGGGGTGTTTGAAGAGAACATCAGTGACGTGTGTGACCTCATCCATCAACAT c.2160
S T N G V F E E N I S D V C D L I H Q H p.720
. . . . | 19 . . g.95929
GGAGGACAGGTCTACCTAGACGGGGCAAATATGAATGCTCAG | GTGGGAATCTGTCGCCCT c.2220
G G Q V Y L D G A N M N A Q | V G I C R P p.740
. . . . . . g.95989
GGAGACTTCGGGTCTGATGTCTCGCACCTAAATCTTCACAAGACCTTCTGCATTCCCCAC c.2280
G D F G S D V S H L N L H K T F C I P H p.760
. . . | 20 . . . g.97208
GGAGGAGGTGGTCCTGGCATGGGGCCCATCGGAGT | GAAGAAACATCTCGCCCCGTTTTTG c.2340
G G G G P G M G P I G V | K K H L A P F L p.780
. . . . . . g.97268
CCCAATCATCCCGTCATTTCACTAAAGCGGAATGAGGATGCCTGTCCTGTGGGAACCGTC c.2400
P N H P V I S L K R N E D A C P V G T V p.800
. . . . . | 21. g.99781
AGTGCGGCCCCATGGGGCTCCAGTTCCATCTTGCCCATTTCCTGGGCTTATATCAAG | ATG c.2460
S A A P W G S S S I L P I S W A Y I K | M p.820
. . . . . . g.99841
ATGGGAGGCAAGGGTCTTAAACAAGCCACGGAAACTGCGATATTAAATGCCAACTACATG c.2520
M G G K G L K Q A T E T A I L N A N Y M p.840
. . . . | 22 . g.110557
GCCAAGCGATTAGAAACACACTACAGAATTCTTTTCAGGGGTGCAAGAG | GTTATGTGGGT c.2580
A K R L E T H Y R I L F R G A R G | Y V G p.860
. . . . . . g.110617
CATGAATTTATTTTGGACACGAGACCCTTCAAAAAGTCTGCAAATATTGAGGCTGTGGAT c.2640
H E F I L D T R P F K K S A N I E A V D p.880
. . | 23 . . . . g.114491
GTGGCCAAGAGACTCCAGGATTATG | GATTTCACGCCCCTACCATGTCCTGGCCTGTGGCA c.2700
V A K R L Q D Y G | F H A P T M S W P V A p.900
. . . . . . g.114551
GGGACCCTCATGGTGGAGCCCACTGAGTCGGAGGACAAGGCAGAGCTGGACAGATTCTGT c.2760
G T L M V E P T E S E D K A E L D R F C p.920
. . . . . . g.114611
GATGCCATGATCAGCATTCGGCAGGAAATTGCTGACATTGAGGAGGGCCGCATCGACCCC c.2820
D A M I S I R Q E I A D I E E G R I D P p.940
. | 24 . . . . g.115946
AGGGTCAATCCGCTGAAG | ATGTCTCCACACTCCCTGACCTGCGTTACATCTTCCCACTGG c.2880
R V N P L K | M S P H S L T C V T S S H W p.960
. . . | 25 . . g.117553
GACCGGCCTTATTCCAGAGAGGTGGCAGCATTCCCACTC | CCCTTCGTGAAACCAGAGAAC c.2940
D R P Y S R E V A A F P L | P F V K P E N p.980
. . . . . . g.117613
AAATTCTGGCCAACGATTGCCCGGATTGATGACATATATGGAGATCAGCACCTGGTTTGT c.3000
K F W P T I A R I D D I Y G D Q H L V C p.1000
. . . . . . g.117673
ACCTGCCCACCCATGGAAGTTTATGAGTCTCCATTTTCTGAACAAAAGAGGGCGTCTTCT c.3060
T C P P M E V Y E S P F S E Q K R A S S p.1020
g.117676
TAG c.3063
X p.1020
. . . . . . g.117736
tcctctgtccctaagtttaaaggactgatttgatgcctctccccagagcatttgataagc c.*60
. . . . . . g.117796
aagaaagatttcatctcccaccccagcctcaagtaggagttttatatactgtgtatatct c.*120
. . . . . . g.117856
ctgtaatctctgtcaaggtaaatgtaaatacagtagctggagggagtcgaagctgatggt c.*180
. . . . . . g.117916
tggaagacggatttgctttggtattctgcttccacatgtgccagttgcctggattgggag c.*240
. . . . . . g.117976
ccattttgtgttttgcgtagaaagttttaggaactttaacttttaatgtggcaagtttgc c.*300
. . . . . . g.118036
agatgtcatagaggctatcctggagacttaatagacatttttttgttccaaaagagtcca c.*360
. . . . . . g.118096
tgtggactgtgccatctgtgggaaatcccagggcaaatgtttacattttgtataccctga c.*420
. . . . . . g.118156
agaactctttttcctctaatatgcctaatctgtaatcacatttctgagtgttctcctctt c.*480
. . . . . . g.118216
tttctgtgtgaggtttttttttttttaatctgcatttattagtattctaataaaagcatc c.*540
. g.118229
ttgatcggaagaa c.*553
(downstream sequence)
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