(used for variant description)
(last modified November 16, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_004320.4 in the ATP2A1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023327.1, covering ATP2A1 transcript NM_004320.4.
(upstream sequence)
g.5004
ggcc c.-181
. . . . . . g.5064
ggctgctcaagtgggacgggggtcagagctttgtggagggaagaaaaacctggagggggc c.-121
. . . . . . g.5124
aggagagtaaaaagaagaaacccaggcagacaggcagttggacacactgaggaagacccc c.-61
. . . . . . g.5184
ccacgagtgggaaccccctggaaggaacacaccggccccggcccccaggaagggagcaca c.-1
. . . . . . g.5244
ATGGAGGCCGCTCATGCTAAAACCACGGAGGAATGTTTGGCCTATTTTGGGGTGAGTGAG c.60
M E A A H A K T T E E C L A Y F G V S E p.20
. . . . . | 02 g.5613
ACCACGGGCCTCACCCCGGACCAAGTTAAGCGGAATCTGGAGAAATACGGCCTCAATG | AG c.120
T T G L T P D Q V K R N L E K Y G L N E | p.40
. | 03 . . . . . g.6057
CTCCCTGCTGAGGAAG | GGAAGACCCTGTGGGAGCTGGTGATAGAGCAGTTTGAAGACCTC c.180
L P A E E G | K T L W E L V I E Q F E D L p.60
. . . | 04 . . g.7448
CTGGTGCGGATTCTCCTCCTGGCCGCATGCATTTCCTTC | GTGCTGGCCTGGTTTGAGGAA c.240
L V R I L L L A A C I S F | V L A W F E E p.80
. . . . . . g.7508
GGTGAAGAGACCATCACTGCCTTTGTTGAACCCTTTGTCATCCTCTTGATCCTCATTGCC c.300
G E E T I T A F V E P F V I L L I L I A p.100
. . | 05 . . . . g.8999
AATGCCATCGTGGGGGTTTGGCAG | GAGCGGAACGCAGAGAACGCCATCGAGGCCCTGAAG c.360
N A I V G V W Q | E R N A E N A I E A L K p.120
. . . . . . g.9059
GAGTATGAGCCAGAGATGGGGAAGGTCTACCGGGCTGACCGCAAGTCAGTGCAAAGGATC c.420
E Y E P E M G K V Y R A D R K S V Q R I p.140
. . . . | 06 . . g.11104
AAGGCTCGGGACATCGTCCCTGGGGACATCGTGGAGGTGGCTG | TGGGGGACAAAGTCCCT c.480
K A R D I V P G D I V E V A V | G D K V P p.160
. . . . . . g.11164
GCAGACATCCGAATCCTCGCCATCAAATCCACCACGCTGCGGGTTGACCAGTCCATCCTG c.540
A D I R I L A I K S T T L R V D Q S I L p.180
| 07 . . . . . . g.13757
ACAG | GCGAGTCTGTATCTGTCATCAAACACACGGAGCCCGTTCCTGACCCCCGAGCTGTC c.600
T G | E S V S V I K H T E P V P D P R A V p.200
. . . | 08 . . . g.13967
AACCAGGACAAGAAGAACATGCTTTTCTCG | GGCACCAACATTGCAGCCGGCAAGGCCTTG c.660
N Q D K K N M L F S | G T N I A A G K A L p.220
. . . . . . g.14027
GGCATCGTGGCCACCACTGGTGTGGGCACCGAGATTGGGAAGATCCGAGACCAAATGGCT c.720
G I V A T T G V G T E I G K I R D Q M A p.240
. . . . . . g.14087
GCCACAGAACAGGACAAGACCCCCTTGCAGCAGAAGCTGGATGAGTTTGGGGAGCAGCTC c.780
A T E Q D K T P L Q Q K L D E F G E Q L p.260
. . . . . . g.14147
TCCAAGGTCATCTCCCTCATCTGTGTGGCTGTCTGGCTTATCAACATTGGCCACTTCAAC c.840
S K V I S L I C V A V W L I N I G H F N p.280
. . . . . . g.14207
GACCCCGTCCATGGGGGCTCCTGGTTCCGCGGGGCCATCTACTACTTTAAGATTGCCGTG c.900
D P V H G G S W F R G A I Y Y F K I A V p.300
. . | 09 . . . g.15331
GCCTTGGCTGTGGCTGCCATCCCCGAAG | GTCTTCCTGCAGTCATCACCACCTGCCTGGCC c.960
A L A V A A I P E G | L P A V I T T C L A p.320
. . . . . . g.15391
CTGGGTACCCGTCGGATGGCAAAGAAGAATGCCATTGTAAGAAGCTTGCCCTCCGTAGAG c.1020
L G T R R M A K K N A I V R S L P S V E p.340
. . . . . . g.15451
ACCCTGGGCTGCACCTCTGTCATCTGTTCCGACAAGACAGGCACCCTCACCACCAACCAG c.1080
T L G C T S V I C S D K T G T L T T N Q p.360
. | 10 . . . . . g.20712
ATGTCTGTCTGCAAG | ATGTTTATCATTGACAAGGTGGATGGGGACATCTGCCTCCTGAAT c.1140
M S V C K | M F I I D K V D G D I C L L N p.380
. . . . | 11 . . g.21033
GAGTTCTCCATCACCGGCTCCACTTACGCTCCAGAGGGAGAGGT | CTTGAAGAATGATAAG c.1200
E F S I T G S T Y A P E G E V | L K N D K p.400
. . . . . . g.21093
CCAGTCCGGCCAGGGCAGTATGACGGGCTGGTGGAGCTGGCCACCATCTGTGCCCTCTGC c.1260
P V R P G Q Y D G L V E L A T I C A L C p.420
. . | 12. . . . g.21367
AATGACTCCTCCTTGGACTTCAACGAG | GCCAAAGGTGTCTATGAGAAGGTCGGCGAGGCC c.1320
N D S S L D F N E | A K G V Y E K V G E A p.440
. . . . . . g.21427
ACCGAGACAGCACTCACCACCCTGGTGGAGAAGATGAATGTGTTCAACACGGATGTGAGA c.1380
T E T A L T T L V E K M N V F N T D V R p.460
. . . | 13 . . g.24533
AGCCTCTCGAAGGTGGAGAGAGCCAACGCCTGCAACTCG | GTGATCCGCCAGCTAATGAAG c.1440
S L S K V E R A N A C N S | V I R Q L M K p.480
. . . . . . g.24593
AAGGAATTCACCCTGGAGTTCTCCCGAGACAGAAAGTCCATGTCTGTCTATTGCTCCCCA c.1500
K E F T L E F S R D R K S M S V Y C S P p.500
. . . . | 14 . . g.24760
GCCAAATCTTCCCGGGCTGCTGTGGGCAACAAGATGTTTGTCAAG | GGTGCCCCTGAGGGC c.1560
A K S S R A A V G N K M F V K | G A P E G p.520
. . . . . . g.24820
GTCATCGACCGCTGTAACTATGTGCGAGTTGGCACCACCCGGGTGCCACTGACGGGGCCG c.1620
V I D R C N Y V R V G T T R V P L T G P p.540
. . . . . . g.24880
GTGAAGGAAAAGATCATGGCGGTGATCAAGGAGTGGGGCACTGGCCGGGACACCCTGCGC c.1680
V K E K I M A V I K E W G T G R D T L R p.560
. . . . . . g.24940
TGCTTGGCCCTGGCCACCCGGGACACCCCCCCGAAGCGAGAGGAAATGGTCCTGGATGAC c.1740
C L A L A T R D T P P K R E E M V L D D p.580
. . | 15 . . . . g.27129
TCTGCCAGGTTCCTGGAGTATGAG | ACGGACCTGACATTCGTGGGTGTAGTGGGCATGCTG c.1800
S A R F L E Y E | T D L T F V G V V G M L p.600
. . . . . . g.27189
GACCCTCCGCGCAAGGAGGTCACGGGCTCCATCCAGCTGTGCCGTGACGCCGGGATCCGG c.1860
D P P R K E V T G S I Q L C R D A G I R p.620
. . . . . . g.27249
GTGATCATGATCACTGGGGACAACAAGGGCACAGCCATTGCCATCTGCCGGCGAATTGGC c.1920
V I M I T G D N K G T A I A I C R R I G p.640
. . . . . . g.27309
ATCTTTGGGGAGAACGAGGAGGTGGCCGATCGCGCCTACACGGGCCGAGAGTTCGACGAC c.1980
I F G E N E E V A D R A Y T G R E F D D p.660
. . . . . . g.27369
CTGCCCCTGGCTGAACAGCGGGAAGCCTGCCGACGTGCCTGCTGCTTCGCCCGTGTGGAG c.2040
L P L A E Q R E A C R R A C C F A R V E p.680
. . . . . . g.27429
CCCTCGCACAAGTCCAAGATTGTGGAGTACCTGCAGTCCTACGATGAGATCACAGCCATG c.2100
P S H K S K I V E Y L Q S Y D E I T A M p.700
| 16 . . . . . . g.28435
| ACAGGTGATGGCGTCAATGACGCCCCTGCCCTGAAGAAGGCTGAGATTGGCATTGCCATG c.2160
| T G D G V N D A P A L K K A E I G I A M p.720
. . . . . . g.28495
GGATCTGGCACTGCCGTGGCCAAGACTGCCTCTGAGATGGTGCTGGCTGACGACAACTTC c.2220
G S G T A V A K T A S E M V L A D D N F p.740
. . . . . . g.28555
TCCACCATCGTAGCTGCTGTGGAGGAGGGCCGCGCCATCTACAACAACATGAAGCAGTTC c.2280
S T I V A A V E E G R A I Y N N M K Q F p.760
. . . . | 17 . . g.28715
ATCCGCTACCTCATTTCCTCCAACGTGGGCGAGGTGGTCTG | TATCTTCCTGACCGCTGCC c.2340
I R Y L I S S N V G E V V C | I F L T A A p.780
. . . . . . g.28775
CTGGGGCTGCCTGAGGCCCTGATCCCGGTGCAGCTGCTATGGGTGAACTTGGTGACCGAC c.2400
L G L P E A L I P V Q L L W V N L V T D p.800
. . . . . . g.28835
GGGCTCCCAGCCACAGCCCTGGGCTTCAACCCACCAGACCTGGACATCATGGACCGCCCC c.2460
G L P A T A L G F N P P D L D I M D R P p.820
. . . . . . g.28895
CCCCGGAGCCCCAAGGAGCCCCTCATCAGTGGCTGGCTCTTCTTCCGCTACATGGCAATC c.2520
P R S P K E P L I S G W L F F R Y M A I p.840
| 18 . . . . . . g.29148
GGGG | GCTATGTGGGTGCAGCCACCGTGGGAGCAGCTGCCTGGTGGTTCCTGTACGCTGAG c.2580
G G | Y V G A A T V G A A A W W F L Y A E p.860
. . . | 19 . . . g.29320
GATGGGCCTCATGTCAACTACAGCCAGCTG | ACTCACTTCATGCAGTGCACCGAGGACAAC c.2640
D G P H V N Y S Q L | T H F M Q C T E D N p.880
. . . . . . g.29380
ACCCACTTTGAGGGCATAGACTGTGAGGTCTTCGAGGCCCCCGAGCCCATGACCATGGCC c.2700
T H F E G I D C E V F E A P E P M T M A p.900
. . . . | 20 . . g.29558
CTGTCCGTGCTGGTGACCATCGAGATGTGCAATGCACTGAACAG | CCTGTCCGAGAACCAG c.2760
L S V L V T I E M C N A L N S | L S E N Q p.920
. . . . . . g.29618
TCCCTGCTGCGGATGCCACCCTGGGTGAACATCTGGCTGCTGGGCTCCATCTGCCTCTCC c.2820
S L L R M P P W V N I W L L G S I C L S p.940
. . . . | 21 . . g.29853
ATGTCCCTGCACTTCCTCATCCTCTATGTTGACCCCCTGCCG | ATGATCTTCAAGCTCCGG c.2880
M S L H F L I L Y V D P L P | M I F K L R p.960
. . . . . . g.29913
GCCCTGGACCTCACCCAGTGGCTCATGGTCCTCAAGATCTCACTGCCAGTCATTGGGCTC c.2940
A L D L T Q W L M V L K I S L P V I G L p.980
. . . . | 22 g.30232
GACGAAATCCTCAAGTTCGTTGCTCGGAACTACCTAGAGG | GATAA c.2985
D E I L K F V A R N Y L E G | X p.994
. . . | 23. . . g.30730
ctgttccccctcctccatctctgagcccgtgtcacag | atccagaagatgaaagaaggaag c.*60
. . . . . . g.30790
tgagcatccttttgctctgtcctccccaccccgatagtgacacatcttcaggcagagctg c.*120
. . . . . . g.30850
tggcacagacccccgtcctgtcccccacacccgtgtcatgtgtctgtttataaacatgtc c.*180
. . . . . . g.30910
cccttccctttccttccccctcggccacccgcctccctctcaaccttgtaaattcccctt c.*240
. . . . . . g.30970
cccaaccccgaggggcttgcagggacaaggcgaccgactgcgctgagctgcttatttatt c.*300
. . . . . . g.31030
gaaaataaacgacggaaaagtctggccttgcctctgtgcaagcttggaggcctgggtcgc c.*360
g.31037
cgctgtg c.*367
(downstream sequence)
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