(used for variant description)
(last modified October 18, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_014698.2 in the TMEM63A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering TMEM63A transcript NM_014698.2.
(upstream sequence)
. . g.5022
acgtttgcagatgctctccctg c.-601
. . . . . . g.5082
cgccgcgaccaccctgtgcttggcccagttctcccggaggcgtccagagactgggctcgt c.-541
. . . . . . g.5142
gccgggggacggaagagggtgcgccccggcggatcccttcttggagcctggacgtgagct c.-481
. . . . . . g.5202
ggccggtccggggcttgcagacctccgggaggagctgcggggctgagcggcgaccaggag c.-421
. . . . . . g.5262
gccaggccggggcagaggaccgccgagggccaccgcgggaggcgcagtcagctgcgtaca c.-361
. . . . . . g.5322
ggcttgcgccgccgcgggccaagactccaaattgggaaaggggtggccgcagctctgcgc c.-301
. . . . . . g.5382
atgtgcaggaggcgccggagtttcactttgtaacttttaagtggtcggaacacgccccgc c.-241
. . . . | 02 . . g.8335
gctgctgggtcccgccagacacgccgccgccgcag | gaaagtctacagtttggtaccccag c.-181
. . . . . . g.8395
gactcgctggtcaggaaagccctgcaggacatgagtgttaggcccgacgcctggcccttg c.-121
. . . . . . g.8455
gcagcttgggaggtggctggggctgcttttgcctttgccagagacagctccaactgagga c.-61
. . . . . | 03 . g.10140
cctctccaacgggcccatccacagtccttccttcccctagtgtctg | ggaagacaggcgcg c.-1
. . . . . . g.10200
ATGATGGACTCCCCGTTCCTGGAGCTGTGGCAGTCCAAGGCAGTGTCCATCAGGGAGCAG c.60
M M D S P F L E L W Q S K A V S I R E Q p.20
. . . . . . g.10260
CTGGGACTCGGGGACCGGCCCAACGACTCCTATTGCTACAACTCGGCCAAAAACAGCACC c.120
L G L G D R P N D S Y C Y N S A K N S T p.40
. . . . . . g.10320
GTGCTCCAGGGGGTCACCTTTGGTGGCATCCCCACTGTCCTGCTCATAGACGTCAGCTGC c.180
V L Q G V T F G G I P T V L L I D V S C p.60
| 04 . . . . . . g.13407
TTCCTG | TTCTTAATCTTGGTGTTTTCTATTATAAGAAGAAGATTCTGGGACTATGGCCGC c.240
F L | F L I L V F S I I R R R F W D Y G R p.80
. . | 05 . . . . g.15701
ATTGCCCTGGTGTCAGAAGCAGACAG | CGAGTCCAGATTTCAGAGATTGTCATCGACTTCC c.300
I A L V S E A D S | E S R F Q R L S S T S p.100
. . . | 06 . . . g.16634
TCCTCAGGTCAACAAGACTTTGAAAATGAGCTG | GGATGCTGTCCCTGGCTGACTGCCATC c.360
S S G Q Q D F E N E L | G C C P W L T A I p.120
. | 07 . . . . . g.19739
TTCCGTCTGCA | TGATGACCAGATCCTGGAATGGTGTGGGGAGGACGCCATCCACTACCTG c.420
F R L H | D D Q I L E W C G E D A I H Y L p.140
. . . . . . g.19799
TCCTTCCAGAGGCACATCATCTTCCTGTTGGTGGTGGTCAGCTTTTTGTCCCTGTGTGTC c.480
S F Q R H I I F L L V V V S F L S L C V p.160
. . . | 08 . . . g.20583
ATCCTGCCTGTCAACCTCTCAGGGGACTTGCTGG | ACAAAGACCCGTATAGTTTTGGGAGG c.540
I L P V N L S G D L L D | K D P Y S F G R p.180
. . | 09 . . . . g.21072
ACAACAATAGCAAACCTACAGACTGA | CAATGACCTCCTTTGGCTGCACACCATCTTTGCT c.600
T T I A N L Q T D | N D L L W L H T I F A p.200
. . . . . . g.21132
GTCATTTACCTCTTCCTCACTGTGGGTTTCATGCGGCACCACACTCAGTCCATTAAGTAC c.660
V I Y L F L T V G F M R H H T Q S I K Y p.220
. | 10 . . . . . g.21798
AAAGAGGAGAACCTG | GTGAGGCGGACCCTGTTCATCACAGGACTCCCCAGAGATGCCAGG c.720
K E E N L | V R R T L F I T G L P R D A R p.240
. . | 11 . . . . g.24903
AAGGAGACTGTGGAGAGCCACTTCCG | GGACGCGTATCCCACGTGTGAGGTGGTTGATGTG c.780
K E T V E S H F R | D A Y P T C E V V D V p.260
. . . . | 12. . g.25155
CAGCTGTGCTACAACGTGGCCAAACTGATCTACCTGTGCAAGGAGAA | AAAGAAGACTGAG c.840
Q L C Y N V A K L I Y L C K E K | K K T E p.280
. . . . . . g.25215
AAGAGCCTGACCTATTACACAAACCTGCAGGTGAAGACAGGCCAGCGGACCCTCATCAAC c.900
K S L T Y Y T N L Q V K T G Q R T L I N p.300
. . . . . | 13 . g.25378
CCCAAGCCCTGTGGCCAGTTTTGCTGCTGTGAAGTGCTGGGCTGTGAGTGG | GAAGACGCC c.960
P K P C G Q F C C C E V L G C E W | E D A p.320
. . . . . . g.25438
ATCTCTTACTACACACGGATGAAGGACAGGCTGCTGGAGAGGATCACAGAGGAAGAACGC c.1020
I S Y Y T R M K D R L L E R I T E E E R p.340
. . . . . . g.25498
CACGTCCAGGACCAGCCCCTGGGAATGGCCTTCGTCACCTTCCAGGAGAAGTCCATGGCC c.1080
H V Q D Q P L G M A F V T F Q E K S M A p.360
| 14 . . . . . . g.26778
ACCTA | CATCCTGAAAGATTTCAATGCCTGCAAGTGTCAGAGCCTTCAGTGCAAAGGTGAG c.1140
T Y | I L K D F N A C K C Q S L Q C K G E p.380
. . . . . . g.26838
CCCCAGCCGTCCTCCCATAGCAGGGAGCTCTATACCTCCAAGTGGACAGTCACCTTTGCT c.1200
P Q P S S H S R E L Y T S K W T V T F A p.400
. . | 15 . . . . g.28408
GCTGACCCTGAGGACATCTGCTG | GAAGAACCTCTCTATCCAGGGCCTCCGCTGGTGGCTA c.1260
A D P E D I C W | K N L S I Q G L R W W L p.420
. . . . . . g.28468
CAGTGGCTGGGCATCAACTTCACCCTCTTCCTGGGGCTATTTTTCCTGACCACACCCTCC c.1320
Q W L G I N F T L F L G L F F L T T P S p.440
. . . . . | 16. g.30706
ATCATCCTGTCCACCATGGACAAGTTTAATGTCACCAAACCCATCCATGCGCTGAAT | AAC c.1380
I I L S T M D K F N V T K P I H A L N | N p.460
. . . . . . g.30766
CCGATCATCAGCCAGTTCTTCCCCACCCTCCTGCTCTGGTCCTTCTCGGCCCTGCTCCCC c.1440
P I I S Q F F P T L L L W S F S A L L P p.480
. . . . | 17 . . g.30997
TCCATTGTCTACTACTCTACACTGCTGGAGTCTCACTGGACCAA | GTCGGGGGAAAACCAG c.1500
S I V Y Y S T L L E S H W T K | S G E N Q p.500
. . . . . . g.31057
ATCATGATGACCAAAGTCTACATATTCTTGATCTTCATGGTGCTGATCCTGCCCTCCCTG c.1560
I M M T K V Y I F L I F M V L I L P S L p.520
. | 18 . . . . . g.31828
GGTCTCACCAG | TCTAGATTTTTTCTTCCGGTGGCTCTTTGACAAAACTTCCTCGGAGGCC c.1620
G L T S | L D F F F R W L F D K T S S E A p.540
. | 19 . . . . . g.33974
TCCATCAGGTTGGA | GTGCGTCTTCCTGCCTGACCAGGGTGCCTTCTTTGTGAACTATGTC c.1680
S I R L E | C V F L P D Q G A F F V N Y V p.560
. . . . . . g.34034
ATCGCCTCGGCCTTCATCGGCAATGGCATGGAGCTGCTGCGGCTGCCAGGTCTCATCCTC c.1740
I A S A F I G N G M E L L R L P G L I L p.580
. . . . . | 20. g.34953
TATACCTTCCGCATGATCATGGCCAAGACGGCTGCTGACCGCAGGAATGTCAAGCAG | AAC c.1800
Y T F R M I M A K T A A D R R N V K Q | N p.600
. . . . . . g.35013
CAGGCCTTCCAGTACGAGTTTGGAGCCATGTATGCATGGATGCTGTGTGTCTTCACTGTC c.1860
Q A F Q Y E F G A M Y A W M L C V F T V p.620
. . . . | 21 . . g.37657
ATCGTGGCCTACAGCATCACTTGTCCCATCATCGCGCCATTTG | GCCTCATCTACATCCTG c.1920
I V A Y S I T C P I I A P F G | L I Y I L p.640
. . . . . . g.37717
CTCAAGCACATGGTGGACCGGCACAACCTCTACTTCGTCTACCTCCCAGCCAAGCTGGAG c.1980
L K H M V D R H N L Y F V Y L P A K L E p.660
. . . . . . g.37777
AAGGGGATCCACTTTGCCGCTGTGAACCAGGCCTTGGCAGCCCCCATCCTGTGCCTCTTC c.2040
K G I H F A A V N Q A L A A P I L C L F p.680
. . . | 22 . . . g.38736
TGGCTCTACTTCTTTTCCTTCCTGCGCCTGG | GTATGAAGGCCCCCGCCACTCTGTTCACC c.2100
W L Y F F S F L R L G | M K A P A T L F T p.700
. . . . . . g.38796
TTCCTGGTGCTGCTGCTCACCATCCTGGTCTGCCTGGCTCACACCTGCTTTGGATGCTTC c.2160
F L V L L L T I L V C L A H T C F G C F p.720
. . | 23. . . . g.39198
AAGCACCTCAGCCCTCTGAACTACAAA | ACAGAAGAGCCTGCAAGTGACAAAGGAAGTGAG c.2220
K H L S P L N Y K | T E E P A S D K G S E p.740
. . . | 24 . . . g.40536
GCAGAGGCCCACATGCCCCCACCGTTCACA | CCCTACGTGCCTCGGATTCTGAACGGCTTG c.2280
A E A H M P P P F T | P Y V P R I L N G L p.760
. . . . . . g.40596
GCCTCGGAGAGGACAGCACTGTCTCCGCAGCAGCAGCAGCAGCAGACCTATGGTGCCATC c.2340
A S E R T A L S P Q Q Q Q Q Q T Y G A I p.780
. . . . . . g.40656
CACAACATCAGCGGGACTATCCCTGGACAGTGCTTGGCGCAGAGCGCCACGGGCAGTGTG c.2400
H N I S G T I P G Q C L A Q S A T G S V p.800
. . g.40680
GCTGCTGCCCCCCAGGAGGCCTGA | c.2425
A A A P Q E A X p.807
| 25 . . . . . . g.40841
ggctgg | gtctcactgctctgaaaagacacaaccagaatggcctggggctcaggcccttgg c.*60
. . . . . . g.40901
ctgagtgggaatgcgttgggactgcccagctgagctatcaggtgcccatcttttctggtc c.*120
. . . . . . g.40961
ccagcagtggtgaggagagcacaggcaggcctcgcccctcccttgctcacccagtttccc c.*180
. . . . . . g.41021
ctccggcacaagcttccagctctgcagctggggtgacatccccagtggtttgtcgccaag c.*240
. . . . . . g.41081
accatgtggtggacttttcgccccccaaactgatgagtccgggagaatatatggagagag c.*300
. . . . . . g.41141
agatgtaacaaggggaaggcctcctcccttctgagcacacacacaaccgataaccaaaga c.*360
. . . . . . g.41201
gatgctgcagtccaggtctgaggtcccgctggcatccagctccctgctccatggccagtc c.*420
. . . . . . g.41261
cctccccagcccagcagtccctccaggctacatccaggagtaagctatggggaacaggtt c.*480
. . . . . . g.41321
gggaggtggccagtgctcctgccagctgtgcacacatctctgtatcccgctagagttctg c.*540
. . . . . . g.41381
tgtttttgtatcatgttgtcagggacgctagctgggtcagggttaccccatagcaggcag c.*600
. . . . . . g.41441
ggacaaggaccactcataatatgcccattggaccacagttaagatccagcctctctcacc c.*660
. . . . . . g.41501
tcttcagggctgagtgcatgagtctgcacctccaggcaggctctgtgcagtactcacccc c.*720
. . . . . . g.41561
ctccgtctgctccctccaaggtgtgggggtgggcagtgctcagggcctcctcggagccaa c.*780
. . . . . . g.41621
aggacagcatggtcggcacagaggaaggggtacctgggctgggtgcagggccatcccact c.*840
. . . . . . g.41681
gcccttgagctgtggctctggcaggaaggaggggcagcccatccctcttctccctcctgg c.*900
. . . . . . g.41741
ggattctggggaatgggatgcaacttaagacttctgcctgagaagcctcctccctgctgc c.*960
. . . . . . g.41801
ctccagggggcaccaaggcacaagcctgtgcagtaggggcgggatgggggtgtggaagag c.*1020
. . . . . . g.41861
caggtccaggctcctagcacaactggcctggggccttggcacctctgtaggccctgcctg c.*1080
. . . . . . g.41921
tgcctgtccgctggcctggggggcctgggcttatctgggccttctcactcagggactctc c.*1140
. . . . . . g.41981
ttgacgctgacttgcccccgcagtggtggccagtgctgcctctgctccaagctgcccctg c.*1200
. . . . . . g.42041
cgctgggaggggtgggggcggtgccattggtctggtgcagcatagccctggccagtggcc c.*1260
. . . . . . g.42101
tcatccccagcaggcctcccgtgcctctgccagcaaggaggggccggccagctctgcttg c.*1320
. . . . . . g.42161
cacagggggccccatgtggggtcagcgcacgctcatgtcactgagttccagccgctttta c.*1380
. . g.42188
gagtaaagtcgtttatcatcaaagcca c.*1407
(downstream sequence)
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