(used for variant description)
(last modified August 7, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_018426.1 in the TMEM63B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering TMEM63B transcript NM_018426.1.
(upstream sequence)
g.5004
aacc c.-61
. . . . | 02 . . g.11946
cggggctccgagccggagccgagtctgcgcctgggg | gaggaccatgcggcagtagcagcc c.-1
. . . . . . g.12006
ATGCTGCCCTTTCTGCTGGCCACACTGGGCACCACAGCCCTCAACAACAGCAACCCCAAG c.60
M L P F L L A T L G T T A L N N S N P K p.20
. . . . . . g.12066
GACTACTGCTACAGCGCCCGCATCCGCAGCACTGTCCTGCAGGGCCTGCCCTTTGGGGGC c.120
D Y C Y S A R I R S T V L Q G L P F G G p.40
. . . | 03 . . g.12399
GTCCCCACCGTGCTGGCTCTCGACTTCATGTGCTTCCTT | GCACTGCTGTTCTTATTCTCT c.180
V P T V L A L D F M C F L | A L L F L F S p.60
. . . . . | 04 g.12690
ATCCTCCGGAAGGTGGCCTGGGACTATGGGCGGCTGGCCTTGGTGACAGATGCAGACAG | G c.240
I L R K V A W D Y G R L A L V T D A D R | p.80
. . . | 05 . . g.13732
CTTCGGCGGCAGGAGAGGGACCGAGTGGAACAGGAATA | TGTGGCTTCAGCTATGCACGGG c.300
L R R Q E R D R V E Q E Y | V A S A M H G p.100
. . . . . . g.13792
GACAGCCATGACCGGTATGAGCGTCTCACCTCTGTCTCCAGCTCCGTTGACTTTGACCAA c.360
D S H D R Y E R L T S V S S S V D F D Q p.120
| 06 . . . | 07. . g.16841
AGGGACAAT | GGTTTCTGTTCCTGGCTGACAGCCATCTTCAGGATAAA | GGATGATGAGATC c.420
R D N | G F C S W L T A I F R I K | D D E I p.140
. . . . . . g.16901
CGGGACAAATGTGGGGGCGATGCCGTGCACTACCTGTCCTTTCAGCGGCACATCATCGGG c.480
R D K C G G D A V H Y L S F Q R H I I G p.160
. . . . . . g.16961
CTGCTGGTGGTTGTGGGCGTCCTCTCCGTAGGCATCGTGCTGCCTGTCAACTTCTCAGGG c.540
L L V V V G V L S V G I V L P V N F S G p.180
. | 08 . . . . . g.17119
GACCTGCTGG | AGAACAATGCCTACAGCTTTGGGAGAACCACCATTGCCAACTTGAAATCA c.600
D L L E | N N A Y S F G R T T I A N L K S p.200
| 09 . . . . . . g.17671
GG | GAACAACCTGCTATGGCTGCACACCTCCTTCGCCTTCCTGTATCTGCTGCTCACCGTC c.660
G | N N L L W L H T S F A F L Y L L L T V p.220
. . . . . | 10 . g.18398
TACAGCATGCGTAGACACACCTCCAAGATGCGCTACAAGGAGGATGATCTG | GTGAAGCGG c.720
Y S M R R H T S K M R Y K E D D L | V K R p.240
. . . . . . g.18458
ACCCTCTTCATCAATGGAATCTCCAAATATGCAGAGTCAGAAAAGATCAAGAAGCATTTT c.780
T L F I N G I S K Y A E S E K I K K H F p.260
| 11 . . . . . . g.24266
GA | GGAAGCCTACCCCAACTGCACAGTTCTCGAAGCCCGCCCGTGTTACAACGTGGCTCGC c.840
E | E A Y P N C T V L E A R P C Y N V A R p.280
. . | 12 . . . . g.24775
CTAATGTTCCTCGATGCAGAGAG | GAAGAAGGCCGAGCGGGGAAAGCTGTACTTCACAAAC c.900
L M F L D A E R | K K A E R G K L Y F T N p.300
. . . . . . g.24835
CTCCAGAGCAAGGAGAACGTGCCTACCATGATCAACCCCAAGCCCTGTGGCCACCTCTGC c.960
L Q S K E N V P T M I N P K P C G H L C p.320
. . | 13. . . . g.25646
TGCTGTGTGGTGCGAGGCTGTGAGCAG | GTGGAGGCCATTGAGTACTACACAAAGCTGGAG c.1020
C C V V R G C E Q | V E A I E Y Y T K L E p.340
. . . . . . g.25706
CAGAAGCTGAAGGAAGACTACAAGCGGGAGAAGGAGAAGGTGAATGAGAAGCCTCTTGGC c.1080
Q K L K E D Y K R E K E K V N E K P L G p.360
. . . . | 14 . . g.25893
ATGGCCTTTGTCACCTTCCACAATGAGACTATCACCGCCAT | CATCCTGAAGGACTTCAAC c.1140
M A F V T F H N E T I T A I | I L K D F N p.380
. . . . . . g.25953
GTGTGTAAATGCCAGGGCTGCACCTGCCGTGGGGAGCCACGCCCCTCATCCTGCAGCGAG c.1200
V C K C Q G C T C R G E P R P S S C S E p.400
. . . . . | 15 g.26154
TCCCTGCACATCTCCAACTGGACCGTGTCCTATGCCCCTGACCCTCAGAACATCTACTG | G c.1260
S L H I S N W T V S Y A P D P Q N I Y W | p.420
. . . . . . g.26214
GAGCACCTCTCCATCCGAGGCTTCATCTGGTGGCTGCGCTGCCTGGTCATCAATGTCGTC c.1320
E H L S I R G F I W W L R C L V I N V V p.440
. . . . . . g.26274
CTCTTCATCCTCCTCTTCTTCCTCACCACTCCAGCCATCATCATCACCACCATGGACAAG c.1380
L F I L L F F L T T P A I I I T T M D K p.460
. . . | 16 . . . g.27247
TTCAACGTCACCAAGCCTGTGGAGTACCTCAAC | AACCCCATCATCACCCAGTTCTTCCCC c.1440
F N V T K P V E Y L N | N P I I T Q F F P p.480
. . . . . . g.27307
ACCCTGCTGCTGTGGTGCTTCTCGGCCCTCCTTCCCACCATCGTCTACTACTCAGCCTTC c.1500
T L L L W C F S A L L P T I V Y Y S A F p.500
. . | 17 . . . . g.27625
TTTGAAGCCCACTGGACACG | CTCTGGGGAGAACAGGACAACCATGCACAAGTGCTACACT c.1560
F E A H W T R | S G E N R T T M H K C Y T p.520
. . . . | 18. . g.27938
TTCCTCATCTTCATGGTGCTGCTCCTACCCTCGCTGGGACTGAGCAG | CCTGGACCTCTTC c.1620
F L I F M V L L L P S L G L S S | L D L F p.540
. . . . . | 19 . g.29214
TTCCGCTGGCTCTTTGATAAGAAATTCTTGGCTGAGGCAGCTATTCGGTTTGA | GTGTGTG c.1680
F R W L F D K K F L A E A A I R F E | C V p.560
. . . . . . g.29274
TTCCTGCCCGACAACGGCGCCTTCTTCGTGAACTACGTCATTGCCTCAGCCTTTATCGGC c.1740
F L P D N G A F F V N Y V I A S A F I G p.580
. . . . . . g.29334
AACGCCATGGACCTGCTGCGCATCCCAGGCCTGCTCATGTACATGATCCGGCTCTGCCTG c.1800
N A M D L L R I P G L L M Y M I R L C L p.600
. . . | 20 . . . g.29978
GCGCGCTCGGCCGCCGAGAGGCGCAACGTGAAGCGG | CATCAGGCCTACGAGTTCCAGTTT c.1860
A R S A A E R R N V K R | H Q A Y E F Q F p.620
. . . . . . g.30038
GGCGCAGCCTACGCCTGGATGATGTGCGTCTTCACGGTGGTCATGACCTACAGTATCACC c.1920
G A A Y A W M M C V F T V V M T Y S I T p.640
. . | 21 . . . . g.31075
TGCCCCATCATCGTGCCCTTCG | GGCTCATGTACATGCTGCTGAAGCACCTGGTAGACAGG c.1980
C P I I V P F G | L M Y M L L K H L V D R p.660
. . . . . . g.31135
TACAATCTCTACTACGCCTACCTGCCGGCCAAGCTGGACAAGAAGATCCACTCGGGGGCT c.2040
Y N L Y Y A Y L P A K L D K K I H S G A p.680
. . . . . . g.31195
GTGAACCAGGTGGTGGCCGCGCCCATCCTCTGCCTCTTCTGGCTGCTCTTCTTTTCCACC c.2100
V N Q V V A A P I L C L F W L L F F S T p.700
. | 22 . . . . . g.31484
ATGCGCACGG | GGTTCCTAGCTCCCACGTCTATGTTCACATTTGTGGTCCTGGTCATCACC c.2160
M R T G | F L A P T S M F T F V V L V I T p.720
. . . . . . g.31544
ATCGTCATCTGTCTCTGCCACGTCTGCTTTGGACACTTCAAATACCTCAGTGCCCACAAC c.2220
I V I C L C H V C F G H F K Y L S A H N p.740
| 23 . . . . . . g.31780
TACAAG | ATTGAGCACACGGAGACAGATACTGTGGACCCCAGAAGCAATGGACGGCCCCCC c.2280
Y K | I E H T E T D T V D P R S N G R P P p.760
. . | 24. . . . g.32086
ACTGCTGCTGCTGTCCCCAAATCTGCG | AAATACATCGCTCAGGTGCTGCAGGACTCAGAG c.2340
T A A A V P K S A | K Y I A Q V L Q D S E p.780
. . . . . . g.32146
GTGGACGGGGATGGGGATGGGGCTCCTGGGAGCTCAGGGGATGAGCCCCCATCATCCTCA c.2400
V D G D G D G A P G S S G D E P P S S S p.800
. . . . . . g.32206
TCCCAAGATGAGGAGTTGCTGATGCCACCCGACGCCCTCACGGACACAGACTTCCAGTCT c.2460
S Q D E E L L M P P D A L T D T D F Q S p.820
. . . g.32245
TGCGAGGACAGCCTCATAGAGAATGAGATTCACCAGTAA c.2499
C E D S L I E N E I H Q X p.832
. . . . . . g.32305
ggggagggaggggccctggaggccacatcctgccccaccccacccccactcccacggaca c.*60
. . . . . . g.32365
ctaaaacgctaataatttattagatctaaagccccttcctccccagcccctgctttcatt c.*120
. . . . . . g.32425
aaggtatttaaacttgggggtttcactgctctcccccatgatggagggagggagcccccc c.*180
. . . . . . g.32485
aacctcagtgaggagagccccgagccggccccggggcaaagaggggtgcagagggagttc c.*240
. . . . . . g.32545
ccccagatcagtaccccccacccctccccagctagtagcatgaccaggagagggttaatg c.*300
. . . . . . g.32605
agagccaagaggagtacctggtgcacctggtgccggtggctggagacctggggggcaggt c.*360
. . . . . . g.32665
ggatctggggctgttcccccccctccgttttttccaccccacagttcctcctgggatctg c.*420
. . . . . . g.32725
gccctccagggaagtggagcctccagcccctaggggatgcatgaggggggagggggtgct c.*480
. . . . . . g.32785
gagtgggaggaagagtcaggctcacagctggggtggcctgggggtgggggtgggcaaggc c.*540
. . . . . . g.32845
tgacactggaaaatgggtttttgcactgttttttttttggtttttttgttcttttttgtt c.*600
. . . g.32881
tttttcctttaaaataaaaacaaagaaaagctctga c.*636
(downstream sequence)
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