(used for variant description)
(last modified December 2, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001001486.1 in the ATP2C1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007379.1, covering ATP2C1 transcript NM_001001486.1.
(upstream sequence)
. . . . . . g.5060
atgctgctgctaggggtggtgggagcagccgtgggacgcgtggccgggagcgggggtgac c.-121
. . . . . . g.5120
agcctgggattccgggggcttctcttccttgtcctcctcctctcctctctattcccagtg c.-61
. . . . . . g.5180
tggccgtggctgacactaaagactttgtagccatcaacccgagtgcagtttcgatggaaa c.-1
| 02 . . . . . . g.40880
ATGAAG | GTTGCACGTTTTCAAAAAATACCTAATGGTGAAAATGAGACAATGATTCCTGTA c.60
M K | V A R F Q K I P N G E N E T M I P V p.20
. . . . . | 03. g.42435
TTGACATCAAAAAAAGCAAGTGAATTACCAGTCAGTGAAGTTGCAAGCATTCTCCAA | GCT c.120
L T S K K A S E L P V S E V A S I L Q | A p.40
. . . . . . g.42495
GATCTTCAGAATGGTCTAAACAAATGTGAAGTTAGTCATAGGCGAGCCTTTCATGGCTGG c.180
D L Q N G L N K C E V S H R R A F H G W p.60
. . . . . | 04 . g.45038
AATGAGTTTGATATTAGTGAAGATGAGCCACTGTGGAAGAAGTATATTTCTCAG | TTTAAA c.240
N E F D I S E D E P L W K K Y I S Q | F K p.80
. . . . . . g.45098
AATCCCCTTATTATGCTGCTTCTGGCTTCTGCAGTCATCAGTGTTTTAATGCATCAGTTT c.300
N P L I M L L L A S A V I S V L M H Q F p.100
. . | 05 . . . . g.47874
GATGATGCCGTCAGTATCACTGTG | GCAATACTTATCGTTGTTACAGTTGCCTTTGTTCAG c.360
D D A V S I T V | A I L I V V T V A F V Q p.120
| 06 . . . . . . g.51100
| GAATATCGTTCAGAAAAATCTCTTGAAGAATTGAGTAAACTTGTGCCACCAGAATGCCAT c.420
| E Y R S E K S L E E L S K L V P P E C H p.140
| 07 . . . . . . g.52059
TG | TGTGCGTGAAGGAAAATTGGAGCATACACTTGCCCGAGACTTGGTTCCAGGTGATACA c.480
C | V R E G K L E H T L A R D L V P G D T p.160
. . . . . | 08 . g.64240
GTTTGCCTTTCTGTTGGGGATAGAGTTCCTGCTGACTTACGCTTGTTTGAG | GCTGTGGAT c.540
V C L S V G D R V P A D L R L F E | A V D p.180
. . . . . . g.64300
CTTTCCATTGATGAGTCCAGCTTGACAGGTGAGACAACGCCTTGTTCTAAGGTGACAGCT c.600
L S I D E S S L T G E T T P C S K V T A p.200
. . . . . . g.64360
CCTCAGCCAGCTGCAACTAATGGAGATCTTGCATCGAGAAGTAACATTGCCTTTATGGGA c.660
P Q P A A T N G D L A S R S N I A F M G p.220
. . | 09. . . . g.65455
ACACTGGTCAGATGTGGCAAAGCAAAG | GGTGTTGTCATTGGAACAGGAGAAAATTCTGAA c.720
T L V R C G K A K | G V V I G T G E N S E p.240
. . . | 10 . . . g.66538
TTTGGGGAGGTTTTTAAAATGATGCAAGCAGAAGAG | GCACCAAAAACCCCTCTGCAGAAG c.780
F G E V F K M M Q A E E | A P K T P L Q K p.260
. . . . . | 11 . g.69693
AGCATGGACCTCTTAGGAAAACAACTTTCCTTTTACTCCTTTGGTATAATAG | GAATCATC c.840
S M D L L G K Q L S F Y S F G I I G | I I p.280
. . . . . | 12 g.74382
ATGTTGGTTGGCTGGTTACTGGGAAAAGATATCCTGGAAATGTTTACTATTAGTGTAAG | T c.900
M L V G W L L G K D I L E M F T I S V S | p.300
. . . . . . g.74442
TTGGCTGTAGCAGCAATTCCTGAAGGTCTCCCCATTGTGGTCACAGTGACGCTAGCTCTT c.960
L A V A A I P E G L P I V V T V T L A L p.320
. . . . . . g.74502
GGTGTTATGAGAATGGTGAAGAAAAGGGCCATTGTGAAAAAGCTGCCTATTGTTGAAACT c.1020
G V M R M V K K R A I V K K L P I V E T p.340
| 13 . . . . . . g.75414
CTGG | GCTGCTGTAATGTGATTTGTTCAGATAAAACTGGAACACTGACGAAGAATGAAATG c.1080
L G | C C N V I C S D K T G T L T K N E M p.360
. . . . | 14 . . g.77573
ACTGTTACTCACATATTTACTTCAGATGGTCTGCATGCTGAG | GTTACTGGAGTTGGCTAT c.1140
T V T H I F T S D G L H A E | V T G V G Y p.380
. . . . . . g.77633
AATCAATTTGGGGAAGTGATTGTTGATGGTGATGTTGTTCATGGATTCTATAACCCAGCT c.1200
N Q F G E V I V D G D V V H G F Y N P A p.400
. | 15 . . . . g.77782
GTTAGCAGAATTGTTGAG | GCGGGCTGTGTGTGCAATGATGCTGTAATTAGAAACAATACT c.1260
V S R I V E | A G C V C N D A V I R N N T p.420
. . . . | 16 . g.79714
CTAATGGGGAAGCCAACAGAAGGGGCCTTAATTGCTCTTGCAATGAAG | ATGGGTCTTGAT c.1320
L M G K P T E G A L I A L A M K | M G L D p.440
. . . . . . g.79774
GGACTTCAACAAGACTACATCAGAAAAGCTGAATACCCTTTTAGCTCTGAGCAAAAGTGG c.1380
G L Q Q D Y I R K A E Y P F S S E Q K W p.460
. . . | 17 . . . g.85769
ATGGCTGTTAAGTGTGTACACCGAACACAGCAG | GACAGACCAGAGATTTGTTTTATGAAA c.1440
M A V K C V H R T Q Q | D R P E I C F M K p.480
. . . . . . g.85829
GGTGCTTACGAACAAGTAATTAAGTACTGTACTACATACCAGAGCAAAGGGCAGACCTTG c.1500
G A Y E Q V I K Y C T T Y Q S K G Q T L p.500
. . . . . . g.85889
ACACTTACTCAGCAGCAGAGAGATGTGTACCAACAAGAGAAGGCACGCATGGGCTCAGCG c.1560
T L T Q Q Q R D V Y Q Q E K A R M G S A p.520
. | 18 . . . . . g.89709
GGACTCAGAG | TTCTTGCTTTGGCTTCTGGTCCTGAACTGGGACAGCTGACATTTCTTGGC c.1620
G L R V | L A L A S G P E L G Q L T F L G p.540
. . . . . . g.89769
TTGGTGGGAATCATTGATCCACCTAGAACTGGTGTGAAAGAAGCTGTTACAACACTCATT c.1680
L V G I I D P P R T G V K E A V T T L I p.560
. . . . . . g.89829
GCCTCAGGAGTATCAATAAAAATGATTACTGGAGATTCACAGGAGACTGCAGTTGCAATC c.1740
A S G V S I K M I T G D S Q E T A V A I p.580
| 19 . . . . . . g.91051
G | CCAGTCGTCTGGGATTGTATTCCAAAACTTCCCAGTCAGTCTCAGGAGAAGAAATAGAT c.1800
A | S R L G L Y S K T S Q S V S G E E I D p.600
. . . | 20 . . g.103382
GCAATGGATGTTCAGCAGCTTTCACAAATAGTACCAAAG | GTTGCAGTATTTTACAGAGCT c.1860
A M D V Q Q L S Q I V P K | V A V F Y R A p.620
. . . | 21 . . . g.104372
AGCCCAAGGCACAAGATGAAAATTATTAAG | TCGCTACAGAAGAACGGTTCAGTTGTAGCC c.1920
S P R H K M K I I K | S L Q K N G S V V A p.640
. . . . . . g.104432
ATGACAGGAGATGGAGTAAATGATGCAGTTGCTCTGAAGGCTGCAGACATTGGAGTTGCG c.1980
M T G D G V N D A V A L K A A D I G V A p.660
. . . . . . g.104492
ATGGGCCAGACTGGTACAGATGTTTGCAAAGAGGCAGCAGACATGATCCTAGTGGATGAT c.2040
M G Q T G T D V C K E A A D M I L V D D p.680
. | 22. . . . . g.106496
GATTTTCAAACCATAAT | GTCTGCAATCGAAGAGGGTAAAGGGATTTATAATAACATTAAA c.2100
D F Q T I M | S A I E E G K G I Y N N I K p.700
. . | 23 . . . . g.107124
AATTTCGTTAGATTCCAGCTGAGCAC | GAGTATAGCAGCATTAACTTTAATCTCATTGGCT c.2160
N F V R F Q L S T | S I A A L T L I S L A p.720
. . . . . . g.107184
ACATTAATGAACTTTCCTAATCCTCTCAATGCCATGCAGATTTTGTGGATCAATATTATT c.2220
T L M N F P N P L N A M Q I L W I N I I p.740
. . | 24 . . . . g.108053
ATGGATGGACCCCCAGCTCAGAG | CCTTGGAGTAGAACCAGTGGATAAAGATGTCATTCGT c.2280
M D G P P A Q S | L G V E P V D K D V I R p.760
. . . . . . g.108113
AAACCTCCTCGCAACTGGAAAGACAGCATTTTGACTAAAAACTTGATACTTAAAATACTT c.2340
K P P R N W K D S I L T K N L I L K I L p.780
. . . . . | 25 . g.108713
GTTTCATCAATAATCATTGTTTGTGGGACTTTGTTTGTCTTCTGGCGTGAG | CTACGAGAC c.2400
V S S I I I V C G T L F V F W R E | L R D p.800
. . . . . . g.108773
AATGTGATTACACCTCGAGACACAACAATGACCTTCACATGCTTTGTGTTTTTTGACATG c.2460
N V I T P R D T T M T F T C F V F F D M p.820
. . | 26. . . . g.109961
TTCAATGCACTAAGTTCCAGATCCCAG | ACCAAGTCTGTGTTTGAGATTGGACTCTGCAGT c.2520
F N A L S S R S Q | T K S V F E I G L C S p.840
. . . . . . g.110021
AATAGAATGTTTTGCTATGCAGTTCTTGGATCCATCATGGGACAATTACTAGTTATTTAC c.2580
N R M F C Y A V L G S I M G Q L L V I Y p.860
. . . . | 27 . g.111641
TTTCCTCCGCTTCAGAAGGTTTTTCAGACTGAGAGCCTAAGCATACTGG | ATCTGTTGTTT c.2640
F P P L Q K V F Q T E S L S I L D | L L F p.880
. . . . . . g.111701
CTTTTGGGTCTCACCTCATCAGTGTGCATAGTGGCAGAAATTATAAAGAAGGTTGAAAGG c.2700
L L G L T S S V C I V A E I I K K V E R p.900
. . . . . | 28 . g.126568
AGCAGGGAAAAGATCCAGAAGCATGTTAGTTCGACATCATCATCTTTTCTTGAA | GTCTGG c.2760
S R E K I Q K H V S S T S S S F L E | V W p.920
. . . . . . g.126628
CTCTGGGAGAGGAGTGGACAGCAGCTGGTTGAGATACATCCCCATCTGGAGACAGGACTG c.2820
L W E R S G Q Q L V E I H P H L E T G L p.940
. . . g.126658
CCACTGACAGAAGATGTGAGCTGTGTCTAA c.2850
P L T E D V S C V X p.949
. . . . . . g.126718
gtccagtcttgtgcccagccgtgtctgcgccttcactctttggaactctgcatacaacat c.*60
. . . . . . g.126778
cttagcaccatcttcctgcagctcttccttacctaaataaagaaacagcccaagggcagt c.*120
. . . . . . g.126838
atttctaaaagcactgtaacagcttttcattttctccacatatactacaaattctataaa c.*180
. . . . . . g.126898
gaaagaaattaatttaaaaaaactaagatgtttttctcttctggcttcataaatgccttg c.*240
. . . . . . g.126958
ctgtataaattgaaatattgatactgaactgtctttttaatgatgacctaactttattca c.*300
. . . . . . g.127018
acccatcggaatttactttttccctgaaataagatcttttccactggtctactacctgac c.*360
. . . . . . g.127078
cataaacatgtctgcatttgaattctctaaaccctaaatctgtgtctatgaaaaatacaa c.*420
. . . . g.127123
atgactattaaatattattctctttactgttctctttcaccgaaa c.*465
(downstream sequence)
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