(used for variant description)
(last modified September 18, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001470.2 in the GABBR1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering GABBR1 transcript NM_001470.2.
(upstream sequence)
. . . g.5036
ccctctcttccccccgccctgccttcccttgcaccc c.-301
. . . . . . g.5096
tccttcttccctccgcccgggagctctccctggtccccggcgccgcctccttccctcccg c.-241
. . . . . . g.5156
gctccccgctccccgctcccgtggctgccgccgccccggggaagaagagacaggggtggg c.-181
. . . . . . g.5216
gtttgggggaagcgagagaggaggggagagaccctggccaggctggagcctggattcgag c.-121
. . . . . . g.5276
gggaggagggacgggaggaggagaaaggtggaggagaagggaggggggagcggggaggag c.-61
. . . . . . g.5336
cggccgggcctggggccttgaggcccggggagagccggggagccgggcccgcgcgccgag c.-1
| 02 . . . . . . g.5860
| ATGTTGCTGCTGCTGCTACTGGCGCCACTCTTCCTCCGCCCCCCGGGCGCGGGCGGGGCG c.60
| M L L L L L L A P L F L R P P G A G G A p.20
. . | 03 . . . . g.6621
CAGACCCCCAACGCCACCTCAGAAG | GTTGCCAGATCATACACCCGCCCTGGGAAGGGGGC c.120
Q T P N A T S E G | C Q I I H P P W E G G p.40
. . . . . . g.6681
ATCAGGTACCGGGGCCTGACTCGGGACCAGGTGAAGGCTATCAACTTCCTGCCAGTGGAC c.180
I R Y R G L T R D Q V K A I N F L P V D p.60
. . . . . . g.6741
TATGAGATTGAGTATGTGTGCCGGGGGGAGCGCGAGGTGGTGGGGCCCAAGGTCCGCAAG c.240
Y E I E Y V C R G E R E V V G P K V R K p.80
. . . . | 04 . g.7553
TGCCTGGCCAACGGCTCCTGGACAGATATGGACACACCCAGCCGCTGTG | TCCGAATCTGC c.300
C L A N G S W T D M D T P S R C V | R I C p.100
. . . . . . g.7613
TCCAAGTCTTATTTGACCCTGGAAAATGGGAAGGTTTTCCTGACGGGTGGGGACCTCCCA c.360
S K S Y L T L E N G K V F L T G G D L P p.120
. . . . . . g.7673
GCTCTGGACGGAGCCCGGGTGGATTTCCGGTGTGACCCCGACTTCCATCTGGTGGGCAGC c.420
A L D G A R V D F R C D P D F H L V G S p.140
. . . . . | 05 . g.9083
TCCCGGAGCATCTGTAGTCAGGGCCAGTGGAGCACCCCCAAGCCCCACTGCCAGG | TGAAT c.480
S R S I C S Q G Q W S T P K P H C Q V | N p.160
. | 06 . . . . . g.10583
CGAACGCCACACTCAG | AACGGCGCGCAGTGTACATCGGGGCACTGTTTCCCATGAGCGGG c.540
R T P H S E | R R A V Y I G A L F P M S G p.180
. . . . . . g.10643
GGCTGGCCAGGGGGCCAGGCCTGCCAGCCCGCGGTGGAGATGGCGCTGGAGGACGTGAAT c.600
G W P G G Q A C Q P A V E M A L E D V N p.200
. . . . . | 07. g.14164
AGCCGCAGGGACATCCTGCCGGACTATGAGCTCAAGCTCATCCACCACGACAGCAAG | TGT c.660
S R R D I L P D Y E L K L I H H D S K | C p.220
. . . . . . g.14224
GATCCAGGCCAAGCCACCAAGTACCTATATGAGCTGCTCTACAACGACCCTATCAAGATC c.720
D P G Q A T K Y L Y E L L Y N D P I K I p.240
. . . . . . g.14284
ATCCTTATGCCTGGCTGCAGCTCTGTCTCCACGCTGGTGGCTGAGGCTGCTAGGATGTGG c.780
I L M P G C S S V S T L V A E A A R M W p.260
. | 08 . . . . . g.14758
AACCTCATTGTG | CTTTCCTATGGCTCCAGCTCACCAGCCCTGTCAAACCGGCAGCGTTTC c.840
N L I V | L S Y G S S S P A L S N R Q R F p.280
. . . . . . g.14818
CCCACTTTCTTCCGAACGCACCCATCAGCCACACTCCACAACCCTACCCGCGTGAAACTC c.900
P T F F R T H P S A T L H N P T R V K L p.300
. . . . . . g.14878
TTTGAAAAGTGGGGCTGGAAGAAGATTGCTACCATCCAGCAGACCACTGAGGTCTTCACT c.960
F E K W G W K K I A T I Q Q T T E V F T p.320
| 09 . . . . . . g.16037
TCG | ACTCTGGACGACCTGGAGGAACGAGTGAAGGAGGCTGGAATTGAGATTACTTTCCGC c.1020
S | T L D D L E E R V K E A G I E I T F R p.340
. . . . | 10 . . g.16383
CAGAGTTTCTTCTCAGATCCAGCTGTGCCCGTCAAAAACCTGAAG | CGCCAGGATGCCCGA c.1080
Q S F F S D P A V P V K N L K | R Q D A R p.360
. . . . . | 11 . g.16902
ATCATCGTGGGACTTTTCTATGAGACTGAAGCCCGGAAAGTTTTTTGTGAG | GTGTACAAG c.1140
I I V G L F Y E T E A R K V F C E | V Y K p.380
. . . . . . g.16962
GAGCGTCTCTTTGGGAAGAAGTACGTCTGGTTCCTCATTGGGTGGTATGCTGACAATTGG c.1200
E R L F G K K Y V W F L I G W Y A D N W p.400
. . . . . . g.17022
TTCAAGATCTACGACCCTTCTATCAACTGCACAGTGGATGAGATGACTGAGGCGGTGGAG c.1260
F K I Y D P S I N C T V D E M T E A V E p.420
. . . . . . g.17082
GGCCACATCACAACTGAGATTGTCATGCTGAATCCTGCCAATACCCGCAGCATTTCCAAC c.1320
G H I T T E I V M L N P A N T R S I S N p.440
| 12 . . . . . . g.24757
ATG | ACATCCCAGGAATTTGTGGAGAAACTAACCAAGCGACTGAAAAGACACCCTGAGGAG c.1380
M | T S Q E F V E K L T K R L K R H P E E p.460
. . . . . . g.24817
ACAGGAGGCTTCCAGGAGGCACCGCTGGCCTATGATGCCATCTGGGCCTTGGCACTGGCC c.1440
T G G F Q E A P L A Y D A I W A L A L A p.480
. . . . . . g.24877
CTGAACAAGACATCTGGAGGAGGCGGCCGTTCTGGTGTGCGCCTGGAGGACTTCAACTAC c.1500
L N K T S G G G G R S G V R L E D F N Y p.500
. . . . . . g.24937
AACAACCAGACCATTACCGACCAAATCTACCGGGCAATGAACTCTTCGTCCTTTGAGGGT c.1560
N N Q T I T D Q I Y R A M N S S S F E G p.520
| 13 . . . . . . g.25625
GTCTCT | GGCCATGTGGTGTTTGATGCCAGCGGCTCTCGGATGGCATGGACGCTTATCGAG c.1620
V S | G H V V F D A S G S R M A W T L I E p.540
. | 14 . . . . . g.27234
CAGCTTCAGG | GTGGCAGCTACAAGAAGATTGGCTACTATGACAGCACCAAGGATGATCTT c.1680
Q L Q G | G S Y K K I G Y Y D S T K D D L p.560
. . | 15 . . . g.28838
TCCTGGTCCAAAACAGATAAATGGATTG | GAGGGTCCCCCCCAGCTGACCAGACCCTGGTC c.1740
S W S K T D K W I G | G S P P A D Q T L V p.580
. . . . . . g.28898
ATCAAGACATTCCGCTTCCTGTCACAGAAACTCTTTATCTCCGTCTCAGTTCTCTCCAGC c.1800
I K T F R F L S Q K L F I S V S V L S S p.600
. . . . . | 16 g.29453
CTGGGCATTGTCCTAGCTGTTGTCTGTCTGTCCTTTAACATCTACAACTCACATGTCCG | T c.1860
L G I V L A V V C L S F N I Y N S H V R | p.620
. . . . . . g.29513
TATATCCAGAACTCACAGCCCAACCTGAACAACCTGACTGCTGTGGGCTGCTCACTGGCT c.1920
Y I Q N S Q P N L N N L T A V G C S L A p.640
. . . . . . g.29573
TTAGCTGCTGTCTTCCCCCTGGGGCTCGATGGTTACCACATTGGGAGGAACCAGTTTCCT c.1980
L A A V F P L G L D G Y H I G R N Q F P p.660
. | 17 . . . . . g.31015
TTCGTCTGCCAG | GCCCGCCTCTGGCTCCTGGGCCTGGGCTTTAGTCTGGGCTACGGTTCC c.2040
F V C Q | A R L W L L G L G F S L G Y G S p.680
. . . . . . g.31075
ATGTTCACCAAGATTTGGTGGGTCCACACGGTCTTCACAAAGAAGGAAGAAAAGAAGGAG c.2100
M F T K I W W V H T V F T K K E E K K E p.700
| 18 . . . . . g.31232
TGGAGGAAG | ACTCTGGAACCCTGGAAGCTGTATGCCACAGTGGGCCTGCTGGTGGGCATG c.2160
W R K | T L E P W K L Y A T V G L L V G M p.720
. . . . . | 19. g.31704
GATGTCCTCACTCTCGCCATCTGGCAGATCGTGGACCCTCTGCACCGGACCATTGAG | ACA c.2220
D V L T L A I W Q I V D P L H R T I E | T p.740
. . . . . . g.31764
TTTGCCAAGGAGGAACCTAAGGAAGATATTGACGTCTCTATTCTGCCCCAGCTGGAGCAT c.2280
F A K E E P K E D I D V S I L P Q L E H p.760
. . . | 20 . . . g.32518
TGCAGCTCCAGGAAGATGAATACATGGCTTG | GCATTTTCTATGGTTACAAGGGGCTGCTG c.2340
C S S R K M N T W L G | I F Y G Y K G L L p.780
. . . . . . g.32578
CTGCTGCTGGGAATCTTCCTTGCTTATGAGACCAAGAGTGTGTCCACTGAGAAGATCAAT c.2400
L L L G I F L A Y E T K S V S T E K I N p.800
. . . | 21 . . g.33218
GATCACCGGGCTGTGGGCATGGCTATCTACAATGTGGCA | GTCCTGTGCCTCATCACTGCT c.2460
D H R A V G M A I Y N V A | V L C L I T A p.820
. . . . . . g.33278
CCTGTCACCATGATTCTGTCCAGCCAGCAGGATGCAGCCTTTGCCTTTGCCTCTCTTGCC c.2520
P V T M I L S S Q Q D A A F A F A S L A p.840
. . . . | 22 . g.33560
ATAGTTTTCTCCTCCTATATCACTCTTGTTGTGCTCTTTGTGCCCAAG | ATGCGCAGGCTG c.2580
I V F S S Y I T L V V L F V P K | M R R L p.860
. . . . . . g.33620
ATCACCCGAGGGGAATGGCAGTCGGAGGCGCAGGACACCATGAAGACAGGGTCATCGACC c.2640
I T R G E W Q S E A Q D T M K T G S S T p.880
. . . . . . g.33680
AACAACAACGAGGAGGAGAAGTCCCGGCTGTTGGAGAAGGAGAACCGTGAACTGGAAAAG c.2700
N N N E E E K S R L L E K E N R E L E K p.900
. | 23 . . . . . g.34517
ATCATTGCTGAG | AAAGAGGAGCGTGTCTCTGAACTGCGCCATCAACTCCAGTCTCGGCAG c.2760
I I A E | K E E R V S E L R H Q L Q S R Q p.920
. . . . . . g.34577
CAGCTCCGCTCCCGGCGCCACCCACCGACACCCCCAGAACCCTCTGGGGGCCTGCCCAGG c.2820
Q L R S R R H P P T P P E P S G G L P R p.940
. . . . . . g.34637
GGACCCCCTGAGCCCCCCGACCGGCTTAGCTGTGATGGGAGTCGAGTGCATTTGCTTTAT c.2880
G P P E P P D R L S C D G S R V H L L Y p.960
g.34643
AAGTGA c.2886
K X p.961
. . . . . . g.34703
gggtagggtgagggaggacaggccagtagggggagggaaagggagaggggaagggcaggg c.*60
. . . . . . g.34763
gactcaggaagcagggggtccccatccccagctgggaagaacatgctatccaatctcatc c.*120
. . . . . . g.34823
tcttgtaaatacatgtccccctgtgagttctgggctgatttgggtctctcatacctctgg c.*180
. . . . . . g.34883
gaaacagacctttttctctcttactgcttcatgtaattttgtatcacctcttcacaattt c.*240
. . . . . . g.34943
agttcgtacctggcttgaagctgctcactgctcacacgctgcctcctcagcagcctcact c.*300
. . . . . . g.35003
gcatctttctcttcccatgcaacaccctcttctagttaccacggcaacccctgcagctcc c.*360
. . . . . . g.35063
tctgcctttgtgctctgttcctgtccagcaggggtctcccaacaagtgctctttccaccc c.*420
. . . . . . g.35123
caaaggggcctctccttttctccactgtcataatctctttccatcttacttgcccttcta c.*480
. . . . . . g.35183
tactttctcacatgtggctccccctgaattttgcttcctttgggagctcattcttttcgc c.*540
. . . . . . g.35243
caaggctcacatgctccttgcctctgctctgtgcactcacgctcagcacacatgcatcct c.*600
. . . . . . g.35303
cccctctcctgcgtgtgcccactgaacatgctcatgtgtacacacgcttttcccgtatgc c.*660
. . . . . . g.35363
tttcttcatgttcagtcacatgtgctctcgggtgccctgcattcacagctacgtgtgccc c.*720
. . . . . . g.35423
ctctcatggtcatgggtctgcccttgagcgtgtttgggtaggcatgtgcaatttgtctag c.*780
. . . . . . g.35483
catgctgagtcatgtctttcctatttgcacacgtccatgtttatccatgtactttccctg c.*840
. . . . . . g.35543
tgtaccctccatgtaccttgtgtactttcttcccttaaatcatggtattcttctgacaga c.*900
. . . . . . g.35603
gccatatgtaccctaccctgcacattgttatgcacttttccccaattcatgtttggtggg c.*960
. . . . . . g.35663
gccatccacaccctctccttgtcacagaatctccatttctgctcagattccccccatctc c.*1020
. . . . . . g.35723
cattgcattcatgtactaccctcagtctacactcacaatcatcttctcccaagactgctc c.*1080
. . . . . . g.35783
ccttttgttttgtgtttttttgaggggaattaaggaaaaataagtgggggcaggtttgga c.*1140
. . . . . . g.35843
gagctgcttccagtggatagttgatgagaatcctgaccaaaggaaggcacccttgactgt c.*1200
. . . . . . g.35903
tgggatagacagatggacctatggggtgggaggtggtgtccctttcacactgtggtgtct c.*1260
. . . . . g.35958
cttggggaaggatctccccgaatctcaataaaccagtgaacagtgtgactcggca c.*1315
(downstream sequence)
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