(used for variant description)
(last modified May 12, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001007026.1 in the ATN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008047.1, covering ATN1 transcript NM_001007026.1.
(upstream sequence)
. . . . . g.5057
gacgccatactggacgccaagtgggaggaacttcaaggctgtcccctgcgggcctcc c.-181
. . | 02. . . . g.14419
cgctctgcttctgcgaag | gtttcattgaaaacagatcctgcaaaagttccaggtgcccac c.-121
. . . . . . g.14479
actggaaacttggagatcctgcttcccagaccacagctgtggggaacttggggtggagca c.-61
. . . . . . g.14539
gagaagtttctgtattcagctgcccaggcagaggagaatggggtctccacagcctgaaga c.-1
. . | 03. . . . g.14746
ATGAAGACACGACAGAATAAAGACTCG | ATGTCAATGAGGAGTGGACGGAAGAAAGAGGCC c.60
M K T R Q N K D S | M S M R S G R K K E A p.20
. . . . . . g.14806
CCTGGGCCCCGGGAAGAACTGAGATCGAGGGGCCGGGCCTCCCCTGGAGGGGTCAGCACG c.120
P G P R E E L R S R G R A S P G G V S T p.40
. . . . | 04 . . g.15017
TCCAGCAGTGATGGCAAAGCTGAGAAGTCCAGGCAGACAGCCAAG | AAGGCCCGAGTAGAG c.180
S S S D G K A E K S R Q T A K | K A R V E p.60
. . . . . . g.15077
GAAGCCTCCACCCCAAAGGTCAACAAGCAGGGTCGGAGTGAGGAGATCTCAGAGAGTGAA c.240
E A S T P K V N K Q G R S E E I S E S E p.80
. . . | 05 . . g.16105
AGTGAGGAGACCAATGCACCAAAAAAGACCAAAACTGAG | CAGGAACTCCCTCGGCCACAG c.300
S E E T N A P K K T K T E | Q E L P R P Q p.100
. . . . . . g.16165
TCTCCCTCCGATCTGGATAGCTTGGACGGGCGGAGCCTTAATGATGATGGCAGCAGCGAC c.360
S P S D L D S L D G R S L N D D G S S D p.120
. . . . . . g.16225
CCTAGGGATATCGACCAGGACAACCGAAGCACGTCCCCCAGTATCTACAGCCCTGGAAGT c.420
P R D I D Q D N R S T S P S I Y S P G S p.140
. . . . . . g.16285
GTGGAGAATGACTCTGACTCATCTTCTGGCCTGTCCCAGGGCCCAGCCCGCCCCTACCAC c.480
V E N D S D S S S G L S Q G P A R P Y H p.160
. . . . . . g.16345
CCACCTCCACTCTTTCCTCCTTCCCCTCAACCGCCAGACAGCACCCCTCGACAGCCAGAG c.540
P P P L F P P S P Q P P D S T P R Q P E p.180
. . . . . . g.16405
GCTAGCTTTGAACCCCATCCTTCTGTGACACCCACTGGATATCATGCTCCCATGGAGCCC c.600
A S F E P H P S V T P T G Y H A P M E P p.200
. . . . . . g.16465
CCCACATCTCGAATGTTCCAGGCTCCTCCTGGGGCCCCTCCCCCTCACCCACAGCTCTAT c.660
P T S R M F Q A P P G A P P P H P Q L Y p.220
. . . . . . g.16525
CCTGGGGGCACTGGTGGAGTTTTGTCTGGACCCCCAATGGGTCCCAAGGGGGGAGGGGCT c.720
P G G T G G V L S G P P M G P K G G G A p.240
. . . . . . g.16585
GCCTCATCAGTGGGGGGCCCTAATGGGGGTAAGCAGCACCCCCCACCCACTACTCCCATT c.780
A S S V G G P N G G K Q H P P P T T P I p.260
. . . . . . g.16645
TCAGTATCAAGCTCTGGGGCTAGTGGTGCTCCCCCAACAAAGCCGCCTACCACTCCAGTG c.840
S V S S S G A S G A P P T K P P T T P V p.280
. . . . . . g.16705
GGTGGTGGGAACCTACCTTCTGCTCCACCACCAGCCAACTTCCCCCATGTGACACCGAAC c.900
G G G N L P S A P P P A N F P H V T P N p.300
. . . . . . g.16765
CTGCCTCCCCCACCTGCCCTGAGACCCCTCAACAATGCATCAGCCTCTCCCCCTGGCCTG c.960
L P P P P A L R P L N N A S A S P P G L p.320
. . . . . . g.16825
GGGGCCCAACCACTACCTGGTCATCTGCCCTCTCCCCACGCCATGGGACAGGGTATGGGT c.1020
G A Q P L P G H L P S P H A M G Q G M G p.340
. . . . . . g.16885
GGACTTCCTCCTGGCCCAGAGAAGGGCCCAACTCTGGCTCCTTCACCCCACTCTCTGCCT c.1080
G L P P G P E K G P T L A P S P H S L P p.360
. . . . . . g.16945
CCTGCTTCCTCTTCTGCTCCAGCGCCCCCCATGAGGTTTCCTTATTCATCCTCTAGTAGT c.1140
P A S S S A P A P P M R F P Y S S S S S p.380
. . . . . . g.17005
AGCTCTGCAGCAGCCTCCTCTTCCAGTTCTTCCTCCTCTTCCTCTGCCTCCCCCTTCCCA c.1200
S S A A A S S S S S S S S S S A S P F P p.400
. . . . . . g.17065
GCTTCCCAGGCATTGCCCAGCTACCCCCACTCTTTCCCTCCCCCAACAAGCCTCTCTGTC c.1260
A S Q A L P S Y P H S F P P P T S L S V p.420
. . . . . . g.17125
TCCAATCAGCCCCCCAAGTATACTCAGCCTTCTCTCCCATCCCAGGCTGTGTGGAGCCAG c.1320
S N Q P P K Y T Q P S L P S Q A V W S Q p.440
. . . . . . g.17185
GGTCCCCCACCACCTCCTCCCTATGGCCGCCTCTTAGCCAACAGCAATGCCCATCCAGGC c.1380
G P P P P P P Y G R L L A N S N A H P G p.460
. . . . . . g.17245
CCCTTCCCTCCCTCTACTGGGGCCCAGTCCACCGCCCACCCACCAGTCTCAACACATCAC c.1440
P F P P S T G A Q S T A H P P V S T H H p.480
. . . . . . g.17305
CATCACCACCAGCAACAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG c.1500
H H H Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q Q p.500
. . . . . . g.17365
CAGCAGCATCACGGAAACTCTGGGCCCCCTCCTCCTGGAGCATTTCCCCACCCACTGGAG c.1560
Q Q H H G N S G P P P P G A F P H P L E p.520
. . . . . . g.17425
GGCGGTAGCTCCCACCACGCACACCCTTACGCCATGTCTCCCTCCCTGGGGTCTCTGAGG c.1620
G G S S H H A H P Y A M S P S L G S L R p.540
. . . . . . g.17485
CCCTACCCACCAGGGCCAGCACACCTGCCCCCACCTCACAGCCAGGTGTCCTACAGCCAA c.1680
P Y P P G P A H L P P P H S Q V S Y S Q p.560
. . . . . . g.17545
GCAGGCCCCAATGGCCCTCCAGTCTCTTCCTCTTCCAACTCTTCCTCTTCCACTTCTCAA c.1740
A G P N G P P V S S S S N S S S S T S Q p.580
. . . . . . g.17605
GGGTCCTACCCATGTTCACACCCCTCCCCTTCCCAGGGCCCTCAAGGGGCGCCCTACCCT c.1800
G S Y P C S H P S P S Q G P Q G A P Y P p.600
. . . . . . g.17665
TTCCCACCGGTGCCTACGGTCACCACCTCTTCGGCTACCCTTTCCACGGTCATTGCCACC c.1860
F P P V P T V T T S S A T L S T V I A T p.620
. . . . . . g.17725
GTGGCTTCCTCGCCAGCAGGCTACAAAACGGCCTCCCCACCTGGGCCCCCACCGTACGGA c.1920
V A S S P A G Y K T A S P P G P P P Y G p.640
. . . . . . g.17785
AAGAGAGCCCCGTCCCCGGGGGCCTACAAGACAGCCACCCCACCCGGATACAAACCCGGG c.1980
K R A P S P G A Y K T A T P P G Y K P G p.660
. . . . . . g.17845
TCGCCTCCCTCCTTCCGAACGGGGACCCCACCGGGCTATCGAGGAACCTCGCCACCTGCA c.2040
S P P S F R T G T P P G Y R G T S P P A p.680
. . . . . . g.17905
GGCCCAGGGACCTTCAAGCCGGGCTCGCCCACCGTGGGACCTGGGCCCCTGCCACCTGCG c.2100
G P G T F K P G S P T V G P G P L P P A p.700
. . . . . . g.17965
GGGCCCTCAGGCCTGCCATCGCTGCCACCACCACCTGCGGCCCCTGCCTCAGGGCCGCCC c.2160
G P S G L P S L P P P P A A P A S G P P p.720
. . . . . . g.18025
CTGAGCGCCACGCAGATCAAACAGGAGCCGGCTGAGGAGTATGAGACCCCCGAGAGCCCG c.2220
L S A T Q I K Q E P A E E Y E T P E S P p.740
. . . . . . g.18085
GTGCCCCCAGCCCGCAGCCCCTCGCCCCCTCCCAAGGTGGTAGATGTACCCAGCCATGCC c.2280
V P P A R S P S P P P K V V D V P S H A p.760
. | 06 . . . . . g.18428
AGTCAGTCTGCCAG | GTTCAACAAACACCTGGATCGCGGCTTCAACTCGTGCGCGCGCAGC c.2340
S Q S A R | F N K H L D R G F N S C A R S p.780
. . . . . . g.18488
GACCTGTACTTCGTGCCACTGGAGGGCTCCAAGCTGGCCAAGAAGCGGGCCGACCTGGTG c.2400
D L Y F V P L E G S K L A K K R A D L V p.800
. . . . . . g.18548
GAGAAGGTGCGGCGCGAGGCCGAGCAGCGCGCGCGCGAAGAAAAGGAGCGCGAGCGCGAG c.2460
E K V R R E A E Q R A R E E K E R E R E p.820
. . . . . | 07. g.19021
CGGGAACGCGAGAAAGAGCGCGAGCGCGAGAAGGAGCGCGAGCTTGAACGCAGCGTG | AAG c.2520
R E R E K E R E R E K E R E L E R S V | K p.840
. . . . . . g.19081
TTGGCTCAGGAGGGCCGTGCTCCGGTGGAATGCCCATCTCTGGGCCCAGTGCCCCATCGC c.2580
L A Q E G R A P V E C P S L G P V P H R p.860
. . . . . . g.19141
CCTCCATTTGAACCGGGCAGTGCGGTGGCTACAGTGCCCCCCTACCTGGGTCCTGACACT c.2640
P P F E P G S A V A T V P P Y L G P D T p.880
. . . . . . g.19201
CCAGCCTTGCGCACTCTCAGTGAATATGCCCGGCCTCATGTCATGTCTCCTGGCAATCGC c.2700
P A L R T L S E Y A R P H V M S P G N R p.900
. . . . . . g.19261
AACCATCCATTCTACGTGCCCCTGGGGGCAGTGGACCCGGGGCTCCTGGGTTACAATGTC c.2760
N H P F Y V P L G A V D P G L L G Y N V p.920
. . . . . . g.19321
CCGGCCCTGTACAGCAGTGATCCAGCTGCCCGGGAGAGGGAACGGGAAGCCCGTGAACGA c.2820
P A L Y S S D P A A R E R E R E A R E R p.940
. . . . . . g.19381
GACCTCCGTGACCGCCTCAAGCCTGGCTTTGAGGTGAAGCCTAGTGAGCTGGAACCCCTA c.2880
D L R D R L K P G F E V K P S E L E P L p.960
. . . . . . g.19441
CATGGGGTCCCTGGGCCGGGCTTGGATCCCTTTCCCCGACATGGGGGCCTGGCTCTGCAG c.2940
H G V P G P G L D P F P R H G G L A L Q p.980
. . . . . . g.19501
CCTGGCCCACCTGGCCTGCACCCTTTCCCCTTTCATCCGAGCCTGGGGCCCCTGGAGCGA c.3000
P G P P G L H P F P F H P S L G P L E R p.1000
. . . . . . g.19561
GAACGTCTAGCGCTGGCAGCTGGGCCAGCCCTGCGGCCTGACATGTCCTATGCTGAGCGG c.3060
E R L A L A A G P A L R P D M S Y A E R p.1020
. . . . . . g.19621
CTGGCAGCTGAGAGGCAGCACGCAGAAAGGGTGGCGGCCCTGGGCAATGACCCACTGGCC c.3120
L A A E R Q H A E R V A A L G N D P L A p.1040
. . . . . . g.19681
CGGCTGCAGATGCTCAATGTGACTCCCCATCACCACCAGCACTCCCACATCCACTCGCAC c.3180
R L Q M L N V T P H H H Q H S H I H S H p.1060
. . . | 08 . . . g.21443
CTGCACCTGCACCAGCAAGATGCTATCCATGCAG | CCTCTGCCTCGGTGCACCCTCTCATT c.3240
L H L H Q Q D A I H A A | S A S V H P L I p.1080
. . . . . . g.21503
GACCCCCTGGCCTCAGGGTCTCACCTTACCCGGATCCCCTACCCAGCTGGAACTCTCCCT c.3300
D P L A S G S H L T R I P Y P A G T L P p.1100
. . . . . | 09 g.21913
AACCCCCTGCTTCCTCACCCTCTGCACGAGAACGAAGTTCTTCGTCACCAGCTCTTTG | CT c.3360
N P L L P H P L H E N E V L R H Q L F A | p.1120
. . . . . . g.21973
GCCCCTTACCGGGACCTGCCGGCCTCCCTTTCTGCCCCGATGTCAGCAGCTCATCAGCTG c.3420
A P Y R D L P A S L S A P M S A A H Q L p.1140
. . . . . . g.22033
CAGGCCATGCACGCACAGTCAGCTGAGCTGCAGCGCTTGGCGCTGGAACAGCAGCAGTGG c.3480
Q A M H A Q S A E L Q R L A L E Q Q Q W p.1160
. . . . . | 10 g.22285
CTGCATGCCCATCACCCGCTGCACAGTGTGCCGCTGCCTGCCCAGGAGGACTACTACAG | T c.3540
L H A H H P L H S V P L P A Q E D Y Y S | p.1180
. . . g.22318
CACCTGAAGAAGGAAAGCGACAAGCCACTGTAG c.3573
H L K K E S D K P L X p.1190
. . . . . . g.22378
aacctgcgatcaagagagcaccatggctcctacattggaccttggagcacccccaccctc c.*60
. . . . . . g.22438
cccccaccgtgcccttggcctgccacccagagccaagagggtgctgctcagttgcagggc c.*120
. . . . . . g.22498
ctccgcagctggacagagagtgggggagggagggacagacagaaggccaaggcccgatgt c.*180
. . . . . . g.22558
ggtgtgcagaggtggggaggtggcgaggatggggacagaaagcgcacagaatcttggacc c.*240
. . . . . . g.22618
aggtctctcttccttgtcccccctgcttttctcctcccccatgcccaacccctgtggccg c.*300
. . . . . . g.22678
ccgcccctcccctgccccgttggtgtgattatttcatctgttagatgtggctgttttgcg c.*360
. . . . . . g.22738
tagcatcgtgtgccacccctgcccctccccgatccctgtgtgcgcgccccctctgcaatg c.*420
. . . . . . g.22798
tatgccccttgccccttccccacactaataatttatatatataaatatctatatgacgct c.*480
. . . . . . g.22858
cttaaaaaaacatcccaaccaaaaccaaccaaacaaaaacatcctcacaactccccagga c.*540
g.22859
a c.*541
(downstream sequence)
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