(used for variant description)
(last modified May 10, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_015711.3 in the GLTSCR1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering GLTSCR1 transcript NM_015711.3.
(upstream sequence)
. g.5014
gcgcggccagagcg c.-181
. . . . . . g.5074
gccggggacaggctccgaggcaggcccgacccgcctccccggcgccgccgtggctcgacg c.-121
. . | 02 . . . . g.67294
gagaccagctagg | ctggcccccaagaggaccctttccaagtccccagctgggggccctgt c.-61
. . . . . . | 03 g.70379
gtagacctggagtggacacgcccctccttcccttcatgattcgtttgtagcgcag | tggcg c.-1
. . . . | 04 . . g.70543
ATGGATGATGAGGATGGGAGATGCTTACTAGACGTGATTTG | TGACCCACAGGCCCTCAAT c.60
M D D E D G R C L L D V I C | D P Q A L N p.20
. . | 05 . . . . g.72691
GACTTCTTGCATGGATCCGAGAAG | CTTGACAGTGATGACCTCCTGGATAATCCCGGGGAG c.120
D F L H G S E K | L D S D D L L D N P G E p.40
. . . | 06 . . . g.76155
GCCCAAAGTGCCTTCTATGAAGGTCCTGGG | CTCCATGTGCAAGAAGCTTCCGGCAACCAC c.180
A Q S A F Y E G P G | L H V Q E A S G N H p.60
. . . . . . g.76215
CTGAACCCAGAGCCCAACCAGCCGGCCCCCAGTGTGGACCTAGACTTCCTGGAAGATGAC c.240
L N P E P N Q P A P S V D L D F L E D D p.80
. . . . . . g.76275
ATCCTGGGCTCTCCTGCGACAGGGGGCGGCGGCGGGGGCAGTGGGGGCGCTGACCAGCCC c.300
I L G S P A T G G G G G G S G G A D Q P p.100
. . . . . . g.76335
TGTGACATCCTCCAGCAGAGCCTCCAAGAGGCCAACATCACGGAGCAGACGCTGGAGGCC c.360
C D I L Q Q S L Q E A N I T E Q T L E A p.120
. . . . . . g.76395
GAGGCTGAGCTGGACCTGGGTCCCTTCCAGCTGCCCACCCTGCAGCCTGCGGATGGCGGG c.420
E A E L D L G P F Q L P T L Q P A D G G p.140
. . . . . . g.76455
GCAGGCCCGACGGGCGCTGGAGGGGCAGCGGCCGTGGCTGCGGGGCCCCAAGCCCTCTTC c.480
A G P T G A G G A A A V A A G P Q A L F p.160
. . . . . . g.76515
CCAGGCAGCACCGACCTGCTGGGGCTGCAGGGCCCGCCTACCGTGCTGACCCACCAGGCC c.540
P G S T D L L G L Q G P P T V L T H Q A p.180
. . . . . . g.76575
CTGGTGCCGCCCCAGGACGTGGTCAACAAGGCCCTGAGTGTGCAGCCCTTCCTGCAGCCT c.600
L V P P Q D V V N K A L S V Q P F L Q P p.200
. . . . . . g.76635
GTGGGCCTGGGCAATGTGACACTGCAGCCCATCCCGGGCCTCCAAGGCCTGCCCAATGGC c.660
V G L G N V T L Q P I P G L Q G L P N G p.220
. . . . . . g.76695
AGCCCTGGGGGTGCCACGGCGGCCACACTGGGCCTGGCGCCCATCCAGGTGGTGGGCCAG c.720
S P G G A T A A T L G L A P I Q V V G Q p.240
. . . . . . g.76755
CCCGTCATGGCGCTCAACACGCCCACCTCCCAGCTCCTGGCCAAGCAGGTGCCCGTCAGC c.780
P V M A L N T P T S Q L L A K Q V P V S p.260
. . . . . . g.76815
GGCTACCTGGCCTCGGCGGCTGGCCCCTCGGAGCCCGTGACGCTGGCGTCGGCCGGTGTC c.840
G Y L A S A A G P S E P V T L A S A G V p.280
. . . . . . g.76875
TCGCCACAGGGGGCTGGCCTGGTCATCCAGAAGAACCTCTCGGCCGCTGTGGCCACCACG c.900
S P Q G A G L V I Q K N L S A A V A T T p.300
. . . . . . g.76935
CTCAATGGGAACTCTGTGTTCGGAGGCGCGGGGGCCGCCTCGGCTCCCACCGGGACGCCC c.960
L N G N S V F G G A G A A S A P T G T P p.320
. . . . . . g.76995
TCGGGACAGCCGCTGGCGGTGGCCCCAGGCCTCGGCTCGTCGCCACTGGTCCCGGCGCCC c.1020
S G Q P L A V A P G L G S S P L V P A P p.340
. . . . . . g.77055
AACGTGATCCTGCATCGCACACCCACGCCCATCCAGCCCAAGCCCGCGGGGGTGCTGCCG c.1080
N V I L H R T P T P I Q P K P A G V L P p.360
. . . . . . g.77115
CCCAAGCTCTACCAGCTGACGCCCAAGCCGTTTGCGCCCGCGGGCGCCACGCTCACCATC c.1140
P K L Y Q L T P K P F A P A G A T L T I p.380
. . . . . . g.77175
CAGGGCGAGCCGGGGGCGCTCCCGCAGCAGCCCAAGGCCCCGCAGAACCTGACGTTCATG c.1200
Q G E P G A L P Q Q P K A P Q N L T F M p.400
. . . . . . g.77235
GCGGCGGGGAAGGCGGGCCAGAACGTGGTGCTGTCGGGCTTCCCCGCGCCTGCGCTGCAA c.1260
A A G K A G Q N V V L S G F P A P A L Q p.420
. . . . . . g.77295
GCGAACGTCTTCAAGCAGCCACCGGCCACCACCACCGGAGCGGCCCCGCCGCAGCCCCCC c.1320
A N V F K Q P P A T T T G A A P P Q P P p.440
. . . . . . g.77355
GGGGCCCTGAGCAAACCCATGAGCGTCCACCTCCTGAACCAAGGCAGCAGCATCGTCATC c.1380
G A L S K P M S V H L L N Q G S S I V I p.460
. . . . . . g.77415
CCCGCCCAGCACATGCTGCCGGGCCAGAACCAGTTCCTACTGCCTGGCGCCCCGGCGGTC c.1440
P A Q H M L P G Q N Q F L L P G A P A V p.480
. . . . . . g.77475
CAGCTCCCGCAGCAGCTCTCAGCCCTGCCGGCCAACGTGGGCGGGCAGATCCTGGCGGCC c.1500
Q L P Q Q L S A L P A N V G G Q I L A A p.500
. . . . . . g.77535
GCTGCCCCCCACACAGGTGGACAGCTCATCGCGAACCCCATCCTCACAAACCAGAACCTG c.1560
A A P H T G G Q L I A N P I L T N Q N L p.520
. . . . . . g.77595
GCGGGCCCACTGAGCCTGGGCCCCGTGTTGGCCCCCCACTCCGGGGCCCACAGCGCGCAC c.1620
A G P L S L G P V L A P H S G A H S A H p.540
. . . . . . g.77655
ATCCTCTCCGCCGCTCCCATCCAGGTGGGCCAGCCTGCGCTCTTCCAGATGCCCGTGTCG c.1680
I L S A A P I Q V G Q P A L F Q M P V S p.560
. . . . . . g.77715
CTGGCGGCGGGCAGCCTGCCCACGCAGAGCCAGCCAGCGCCCGCCGGGCCGGCCGCCACC c.1740
L A A G S L P T Q S Q P A P A G P A A T p.580
. . . . . . g.77775
ACTGTCCTCCAGGGGGTCACCCTGCCCCCCAGCGCCGTGGCCATGCTCAACACCCCCGAC c.1800
T V L Q G V T L P P S A V A M L N T P D p.600
. . . . . . g.77835
GGCCTGGTGCAGCCGGCCACCCCTGCCGCTGCCACCGGGGAGGCCGCGCCTGTCCTCACG c.1860
G L V Q P A T P A A A T G E A A P V L T p.620
. . . . . . g.77895
GTGCAGCCTGCCCCCCAGGCGCCCCCCGCGGTCAGCACACCCCTGCCCCTGGGCCTCCAG c.1920
V Q P A P Q A P P A V S T P L P L G L Q p.640
. . . . . . g.77955
CAGCCGCAGGCGCAGCAGCCCCCGCAGGCCCCCACCCCACAGGCCGCCGCCCCGCCTCAG c.1980
Q P Q A Q Q P P Q A P T P Q A A A P P Q p.660
. . . . . . g.78015
GCCACCACCCCCCAGCCCAGCCCTGGCCTGGCGTCTAGCCCGGAGAAGATCGTCCTGGGG c.2040
A T T P Q P S P G L A S S P E K I V L G p.680
. . . . . . g.78075
CAGCCGCCCTCTGCCACCCCCACGGCCATCCTCACTCAGGACTCCCTGCAGATGTTCCTG c.2100
Q P P S A T P T A I L T Q D S L Q M F L p.700
| 07 . . . . . . g.78834
CCCCAG | GAGAGGAGCCAGCAGCCCCTCTCCGCAGAGGGCCCCCACCTCTCCGTGCCTGCC c.2160
P Q | E R S Q Q P L S A E G P H L S V P A p.720
. . . . . . g.78894
TCGGTCATAGTCAGCGCCCCGCCTCCCGCCCAAGACCCAGCCCCAGCCACCCCCGTCGCC c.2220
S V I V S A P P P A Q D P A P A T P V A p.740
. . . . . . g.78954
AAAGGAGCTGGCCTCGGCCCTCAGGCCCCCGACAGCCAGGCTTCCCCGGCTCCGGCCCCC c.2280
K G A G L G P Q A P D S Q A S P A P A P p.760
| 08 . . . . . . g.90976
CAG | ATCCCGGCAGCGGCTCCGCTGAAGGGCCCAGGCCCCTCTTCGTCCCCGTCACTACCT c.2340
Q | I P A A A P L K G P G P S S S P S L P p.780
. . . . . . g.91036
CACCAGGCCCCTCTGGGGGACAGCCCCCACCTGCCCTCCCCACACCCCACCCGGCCCCCT c.2400
H Q A P L G D S P H L P S P H P T R P P p.800
. . . . . . g.91096
TCCCGCCCACCCTCCCGGCCACAGAGTGTGTCCCGCCCTCCCTCAGAGCCACCCTTGCAC c.2460
S R P P S R P Q S V S R P P S E P P L H p.820
. . . . . . g.91156
CCTTGCCCCCCACCCCAGGCCCCCCCAACTCTGCCTGGCATCTTTGTCATCCAAAACCAG c.2520
P C P P P Q A P P T L P G I F V I Q N Q p.840
. . . . . . g.91216
CTAGGCGTTCCCCCGCCTGCCAGCAACCCGGCCCCTACTGCCCCAGGCCCGCCGCAGCCG c.2580
L G V P P P A S N P A P T A P G P P Q P p.860
. . . . . . g.91276
CCTCTCCGCCCCCAGTCCCAGCCGCCTGAGGGACCGCTGCCCCCAGCCCCCCACCTCCCT c.2640
P L R P Q S Q P P E G P L P P A P H L P p.880
. . . . . . g.91336
CCATCCTCCACCTCCTCTGCTGTGGCCTCCTCCTCTGAGACGTCCTCCAGGTTGCCAGCC c.2700
P S S T S S A V A S S S E T S S R L P A p.900
. . . . . . g.91396
CCTACGCCATCCGACTTCCAGCTCCAGTTCCCACCCAGCCAGGGGCCCCACAAGTCCCCC c.2760
P T P S D F Q L Q F P P S Q G P H K S P p.920
. . . . . . g.91456
ACTCCCCCTCCAACCCTCCACCTGGTCCCTGAGCCGGCAGCACCCCCCCCACCGCCTCCT c.2820
T P P P T L H L V P E P A A P P P P P P p.940
. . . . . . g.91516
CGGACCTTCCAGATGGTGACCACCCCCTTCCCAGCGCTGCCCCAGCCGAAGGCTCTTCTC c.2880
R T F Q M V T T P F P A L P Q P K A L L p.960
. | 09 . . . . . g.91749
GAGAGATTTCACCAG | GTGCCGTCCGGAATCATCCTCCAGAACAAGGCTGGGGGGGCCCCT c.2940
E R F H Q | V P S G I I L Q N K A G G A P p.980
. . . . . . g.91809
GCCGCCCCGCAGACCTCCACCAGCCTGGGGCCCCTCACCAGCCCCGCTGCGTCTGTGCTG c.3000
A A P Q T S T S L G P L T S P A A S V L p.1000
. . . . . . g.91869
GTCAGTGGGCAGGCCCCATCTGGGACCCCCACTGCCCCCAGCCACGCCCCCGCCCCGGCA c.3060
V S G Q A P S G T P T A P S H A P A P A p.1020
. | 10 . . . . . g.92213
CCCATGGCCGCCACAG | GCCTCCCTCCTCTGCTTCCAGCCGAGAACAAGGCTTTTGCCAGC c.3120
P M A A T G | L P P L L P A E N K A F A S p.1040
. . . . . . g.92273
AACCTCCCGACCCTGAATGTGGCCAAGGCCGCTTCCTCCGGGCCAGGGAAGCCCTCCGGG c.3180
N L P T L N V A K A A S S G P G K P S G p.1060
| 11 . . . . . . g.93309
CTGCAG | TATGAGAGCAAACTGAGTGGCCTGAAGAAGCCCCCCACGCTTCAGCCCAGCAAG c.3240
L Q | Y E S K L S G L K K P P T L Q P S K p.1080
| 12 . . . . . g.95490
GAAGCCTG | TTTCCTGGAGCATTTGCACAAACACCAGGGCTCCGTCCTGCACCCCGACTAC c.3300
E A C | F L E H L H K H Q G S V L H P D Y p.1100
. . . . . . g.95550
AAGACGGCCTTCCCCTCCTTTGAGGACGCCCTGCATCGCCTCCTGCCCTACCATGTCTAC c.3360
K T A F P S F E D A L H R L L P Y H V Y p.1120
. . . | 13. . . g.95792
CAGGGCGCCCTCCCCTCCCCCAGTGACTACCACAAAG | TGGACGAGGAGTTTGAGACGGTC c.3420
Q G A L P S P S D Y H K V | D E E F E T V p.1140
. . . . . . g.95852
TCCACGCAGCTGCTGAAACGCACCCAGGCCATGCTCAATAAATATCGGCTCCTGCTCCTG c.3480
S T Q L L K R T Q A M L N K Y R L L L L p.1160
. | 14 . . . . . g.96155
GAGGAGTCCCGG | AGGGTGAGCCCCTCAGCGGAGATGGTAATGATCGACCGAATGTTCATT c.3540
E E S R | R V S P S A E M V M I D R M F I p.1180
. . . . . | 15 . g.98137
CAGGAGGAGAAGACCACCCTTGCCTTGGATAAACAGCTGGCCAAGGAGAAGCCGG | ACGAG c.3600
Q E E K T T L A L D K Q L A K E K P D | E p.1200
. . . . . . g.98197
TACGTGTCTTCCTCCCGCTCGCTCGGCCTCCCCATCGCAGCCTCTTCCGAGGGTCATCGG c.3660
Y V S S S R S L G L P I A A S S E G H R p.1220
. . . . . . g.98257
CTTCCCGGCCACGGCCCCCTGTCGTCTTCAGCTCCCGGGGCCTCCACCCAGCCCCCTCCA c.3720
L P G H G P L S S S A P G A S T Q P P P p.1240
. . . . . . g.98317
CACCTGCCCACCAAGCTTGTGATCCGGCACGGCGGGGCAGGCGGCTCCCCTTCGGTCACC c.3780
H L P T K L V I R H G G A G G S P S V T p.1260
. . . . . . g.98377
TGGGCCCGGGCGTCCTCCTCCCTGTCCTCCTCTTCCTCCTCCTCCTCTGCCGCCTCCTCC c.3840
W A R A S S S L S S S S S S S S A A S S p.1280
. . . . . . g.98437
TTGGACGCCGACGAGGACGGCCCCATGCCCTCCCGCAACCGCCCGCCCATCAAGACCTAC c.3900
L D A D E D G P M P S R N R P P I K T Y p.1300
. . . . . . g.98497
GAGGCCCGGAGCCGCATCGGGCTCAAGCTCAAGATCAAGCAGGAAGCCGGGCTCAGCAAG c.3960
E A R S R I G L K L K I K Q E A G L S K p.1320
. . . . . . g.98557
GTCGTGCACAACACGGCCCTGGACCCCGTGCACCAGCCCCCGCCACCCCCCGCTACCCTC c.4020
V V H N T A L D P V H Q P P P P P A T L p.1340
. . . . . . g.98617
AAGGTGGCCGAGCCCCCGCCACGGCCGCCACCACCACCGCCGCCCACGGGCCAGATGAAC c.4080
K V A E P P P R P P P P P P P T G Q M N p.1360
. . . . . . g.98677
GGCACGGTGGACCACCCGCCGCCTGCCGCCCCCGAGCGCAAGCCCCTGGGCACCGCCCCG c.4140
G T V D H P P P A A P E R K P L G T A P p.1380
. . . . . . g.98737
CACTGCCCGCGCCTGCCACTGCGCAAGACCTACCGCGAGAACGTGGGGGGCCCTGGCGCG c.4200
H C P R L P L R K T Y R E N V G G P G A p.1400
. . . . . . g.98797
CCGGAGGGGACGCCCGCAGGCAGGGCACGGGGAGGCAGCCCGGCGCCGCTGCCCGCCAAA c.4260
P E G T P A G R A R G G S P A P L P A K p.1420
. . . . . . g.98857
GTGGACGAGGCCACCAGCGGGCTCATCCGCGAGCTGGCGGCCGTGGAGGACGAGCTGTAC c.4320
V D E A T S G L I R E L A A V E D E L Y p.1440
. . . . . . g.98917
CAGCGTATGCTGAAGGGCCCCCCGCCAGAGCCCGCAGCCAGCGCCGCCCAAGGCACCGGG c.4380
Q R M L K G P P P E P A A S A A Q G T G p.1460
. . . . . . g.98977
GACCCCGACTGGGAGGCGCCCGGGCTGCCCCCTGCCAAGCGGCGCAAGTCCGAGTCGCCC c.4440
D P D W E A P G L P P A K R R K S E S P p.1480
. . . . . . g.99037
GACGTGGACCAGGCCAGCTTCTCCAGCGACAGCCCGCAGGATGACACGCTCACCGAGCAC c.4500
D V D Q A S F S S D S P Q D D T L T E H p.1500
. . . . . . g.99097
CTGCAGAGCGCCATCGACAGCATCCTGAACCTGCAGCAGGCCCCCGGCCGGACGCCCGCG c.4560
L Q S A I D S I L N L Q Q A P G R T P A p.1520
. . . . . . g.99157
CCCTCGTACCCCCACGCTGCCTCGGCCGGCACCCCCGCATCCCCGCCGCCCCTGCACAGG c.4620
P S Y P H A A S A G T P A S P P P L H R p.1540
. . . . . . g.99217
CCCGAGGCCTACCCACCCTCCAGTCACAACGGTGGCCTCGGCGCCAGGACGTTGACCAGA c.4680
P E A Y P P S S H N G G L G A R T L T R p.1560
g.99220
TAA c.4683
X p.1560
. . . . . . g.99280
caccgggccgcctccccttccccgtcccctcctcccgaagacgccgggacagtcgggtgt c.*60
. . . . . . g.99340
ccgccctcagcctcctggggactcgagccggggatcccctgacggtttttcttgcctaag c.*120
. . . . . . g.99400
ttatttgagtcacaaaggcctccttccctgccgcctgcttcagctgggttgctggggggt c.*180
. . . . . . g.99460
gggcgtggatttagggagggggctgtgatgtaaaacgtctcccctgccaaaggaggggca c.*240
. . . . . . g.99520
aagtgctgtgtcagttcctgtttcttcccatttcctggcacactctgcccctctgtccgg c.*300
. . . . . . g.99580
gggacacgcgcatgtgtttgccagggatggggccaccgggttgatgccaacgctccgggt c.*360
. . . . . . g.99640
gcctgtcttgtctgtgtggcttctcagatggtggagggtgctgggagctggcagggtcct c.*420
. . . . . . g.99700
tccagacagtctcagcctctccccgccgcccccaacaggctgtcaaacaaaaccggagag c.*480
. . . . . . g.99760
ggggtgggggagccagcctcccagcgtgctgtgcccgcaggcacccgtgtgacatccgca c.*540
. . . . . . g.99820
cgtccagctccgtgacctgtgtgtgtgtgtgtgtgcacaagtgagtgagagatttcgaac c.*600
. . . . . . g.99880
gcccacccctcgactttgaaatctgagcaaaacaagaaactggggtcttcctctcccccg c.*660
. . . . . . g.99940
aacctctccccagctagtcttccctctgttcttcctgcctccagccgcccgcgccagatt c.*720
. . . . . . g.100000
ttgaaatctcggagacaaaactagtactgtaagataaatttttttgtactgtatttattg c.*780
. . . . . . g.100060
tgtataacgatttttttaaaggagaattctgtacatttagaactcttgtaaattaaaaac c.*840
. . g.100082
cgatcctttttttaaaactgta c.*862
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center