(used for variant description)
(last modified October 24, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001183.4 in the ATP6AP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_052807.1, covering ATP6AP1 transcript NM_001183.4.
(upstream sequence)
g.5001
g c.-61
. . . . . . g.5061
ggggcaacggtcacctgatctgcggctgtcgaggccgctgaggcagtggaggctgaggct c.-1
. . . . . . g.5121
ATGATGGCGGCCATGGCGACGGCTCGAGTGCGGATGGGGCCGCGATGCGCCCAGGCGCTC c.60
M M A A M A T A R V R M G P R C A Q A L p.20
. . . . . . g.5181
TGGCGCATGCCGTGGCTGCCGGTGTTTTTGTCGTTGGCGGCGGCGGCGGCGGCGGCAGCG c.120
W R M P W L P V F L S L A A A A A A A A p.40
. . . . | 02 . . g.5435
GCGGAGCAGCAGGTCCCGCTGGTGCTGTGGTCGAGTGACCG | GGACTTGTGGGCTCCTGCG c.180
A E Q Q V P L V L W S S D R | D L W A P A p.60
. . . . . . g.5495
GCCGACACTCATGAAGGCCACATCACCAGCGACTTGCAGCTCTCTACCTACTTAGATCCC c.240
A D T H E G H I T S D L Q L S T Y L D P p.80
. . . . | 03 . g.8210
GCCCTGGAGCTGGGTCCCAGGAATGTGCTGCTGTTCCTGCAGGACAAG | CTGAGCATTGAG c.300
A L E L G P R N V L L F L Q D K | L S I E p.100
. . . . . . g.8270
GATTTCACAGCATATGGCGGTGTGTTTGGAAACAAGCAGGACAGCGCCTTTTCTAACCTA c.360
D F T A Y G G V F G N K Q D S A F S N L p.120
| 04 . . . . . . g.8691
GAG | AATGCCCTGGACCTGGCCCCCTCCTCACTGGTGCTTCCTGCCGTCGACTGGTATGCA c.420
E | N A L D L A P S S L V L P A V D W Y A p.140
. . . . . . g.8751
GTCAGCACTCTGACCACTTACCTGCAGGAGAAGCTCGGGGCCAGCCCCTTGCATGTGGAC c.480
V S T L T T Y L Q E K L G A S P L H V D p.160
. . . . . . g.8811
CTGGCCACCCTGCGGGAGCTGAAGCTCAATGCCAGCCTCCCTGCTCTGCTGCTCATTCGC c.540
L A T L R E L K L N A S L P A L L L I R p.180
. | 05. . . . | 06 g.10005
CTGCCCTACACAGCCAG | CTCTGGTCTGATGGCACCCAGGGAAGTCCTCACAGGCAACG | AT c.600
L P Y T A S | S G L M A P R E V L T G N D | p.200
. . . . . . g.10065
GAGGTCATCGGGCAGGTCCTGAGCACACTCAAGTCCGAAGATGTCCCATACACAGCGGCC c.660
E V I G Q V L S T L K S E D V P Y T A A p.220
. . | 07 . . . . g.10612
CTCACAGCGGTCCGCCCTTCCAGG | GTGGCCCGTGATGTAGCCGTGGTGGCCGGAGGGCTA c.720
L T A V R P S R | V A R D V A V V A G G L p.240
. . . . . . g.10672
GGTCGCCAGCTGCTACAAAAACAGCCAGTATCACCTGTGATCCATCCTCCTGTGAGTTAC c.780
G R Q L L Q K Q P V S P V I H P P V S Y p.260
. . . . . . g.10732
AATGACACCGCTCCCCGGATCCTGTTCTGGGCCCAAAACTTCTCTGTGGCGTACAAGGAC c.840
N D T A P R I L F W A Q N F S V A Y K D p.280
. . . . . . g.10792
CAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTGCAGGAACTCAACCTGACTGGCTCC c.900
Q W E D L T P L T F G V Q E L N L T G S p.300
. . | 08 . . . . g.11544
TTCTGGAATGACTCCTTTGCCAG | GCTCTCACTGACCTATGAACGACTCTTTGGTACCACA c.960
F W N D S F A R | L S L T Y E R L F G T T p.320
. | 09 . . . . . g.11691
GTGACATTCAA | GTTCATTCTGGCCAACCGCCTCTACCCAGTGTCTGCCCGGCACTGGTTT c.1020
V T F K | F I L A N R L Y P V S A R H W F p.340
. . . . . . g.11751
ACCATGGAGCGCCTCGAAGTCCACAGCAATGGCTCCGTCGCCTACTTCAATGCTTCCCAG c.1080
T M E R L E V H S N G S V A Y F N A S Q p.360
. . . . . . g.11811
GTCACAGGGCCCAGCATCTACTCCTTCCACTGCGAGTATGTCAGCAGCCTGAGCAAGAAG c.1140
V T G P S I Y S F H C E Y V S S L S K K p.380
. . . . . . g.11871
GGTAGTCTCCTCGTGGCCCGCACGCAGCCCTCTCCCTGGCAGATGATGCTTCAGGACTTC c.1200
G S L L V A R T Q P S P W Q M M L Q D F p.400
| 10 . . . . . . g.12107
CAG | ATCCAGGCTTTCAACGTAATGGGGGAGCAGTTCTCCTACGCCAGCGACTGTGCCAGC c.1260
Q | I Q A F N V M G E Q F S Y A S D C A S p.420
. . . . . . g.12167
TTCTTCTCCCCCGGCATCTGGATGGGGCTGCTCACCTCCCTGTTCATGCTCTTCATCTTC c.1320
F F S P G I W M G L L T S L F M L F I F p.440
. . . . . . g.12227
ACCTATGGCCTGCACATGATCCTCAGCCTCAAGACCATGGATCGCTTTGATGACCACAAG c.1380
T Y G L H M I L S L K T M D R F D D H K p.460
. . . g.12260
GGCCCCACTATTTCTTTGACCCAGATTGTGTGA c.1413
G P T I S L T Q I V X p.470
. . . . . . g.12320
ccctgtgccagtgggggggttgagggtgggacggtgtccgtgttgttgctttcccaccct c.*60
. . . . . . g.12380
gcagcgcactggactgaagagcttccctcttcctactgcagcatgaactgcaagctcccc c.*120
. . . . . . g.12440
tcagcccatcttgctccctcttcagcccgctgaggagctttcttgggctgcccccatctc c.*180
. . . . . . g.12500
tcccaacaaggtgtacatattctgcgtagatgctagaccaaccagcttcccagggttcgt c.*240
. . . . . . g.12560
cgctgtgaggcgtaagggacatgaattctagggtctcctttctccttatttattcttgtg c.*300
. . . . . . g.12620
gctacatcatccctggctgtggatagtgcttttgtgtagcaaatgctccctccttaaggt c.*360
. . . . . . g.12680
tatagggctccctgagtttgggagtgtggaagtactacttaactgtctgtcctgcttggc c.*420
. . . . . . g.12740
tgtcgttatcgttttctggtgatgttgtgctaacaataagaagtacacgggtttatttct c.*480
. . . . . . g.12800
gtggcctgagaaggaagggacctccacgacaggtgggctgggtgcgatcgccggctgttt c.*540
. . . . . . g.12860
ggcatgttcccaccgggagtgccgggcaggagcatggggtgcttggttgtttccttccta c.*600
. . g.12885
ataaaataaacgcgggtcgccatgc c.*625
(downstream sequence)
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