(used for variant description)
(last modified November 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001044385.2 in the TMEM237 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032049.1, covering TMEM237 transcript NM_001044385.2.
(upstream sequence)
g.5009
agggggcgg c.-121
. . . . . . g.5069
ctgcctcgccaggcgccacgaagccccggcgtcccacaggtcccggaggccgctgcgtcg c.-61
. . . . . . g.5129
cggggagctgggctcgggccgccggcggttgcgccggggcagccccgcggggagagcacc c.-1
. . . . | 02 . . g.7623
ATGAGGACTGACTCGGGGGCTCGGCTGGAGGAGGGCCACCTG | CGTCCTCCACGAGCTCTT c.60
M R T D S G A R L E E G H L | R P P R A L p.20
. | 03 | 04 . . . . g.9525
CCACCTGTGCCAAG | TCAAG | ATGATATTCCACTTAGTCGTCCTAAGAAAAAGAAGCCCAGA c.120
P P V P S | Q D | D I P L S R P K K K K P R p.40
. | 05 . . . . . g.11688
ACAAAAAACACACCAG | CAAGTGCTTCTTTGGAAGGCCTTGCTCAGACTGCTGGTCGAAGG c.180
T K N T P A | S A S L E G L A Q T A G R R p.60
. . . . . . g.11748
CCCTCTGAGGGCAATGAGCCATCAACTAAAGAACTCAAAGAGCACCCAGAGGCTCCTGTT c.240
P S E G N E P S T K E L K E H P E A P V p.80
. . . | 06 . . . g.15124
CAAAGAAGACAGAAAAAGACAAGGCTACCTCTTG | AATTGGAGACTTCCTCCACCCAAAAG c.300
Q R R Q K K T R L P L E | L E T S S T Q K p.100
. . . . . . g.15184
AAGTCATCTAGTTCATCTTTATTACGAAATGAAAATGGTATTGATGCGGAGCCAGCTGAG c.360
K S S S S S L L R N E N G I D A E P A E p.120
. . . | 07 . . . g.16346
GAGGCAGTTATTCAAAAACCTCGGAGGAAGACAAA | GAAAACCCAGCCAGCAGAATTACAG c.420
E A V I Q K P R R K T K | K T Q P A E L Q p.140
. . . . . . g.16406
TATGCCAATGAGCTAGGAGTAGAAGATGAAGACATAATCACTGATGAGCAAACTACTGTG c.480
Y A N E L G V E D E D I I T D E Q T T V p.160
. . . . . . g.16466
GAACAGCAGTCTGTATTCACTGCACCCACTGGCATTAGCCAGCCTGTAGGCAAAGTATTT c.540
E Q Q S V F T A P T G I S Q P V G K V F p.180
. | 08 . . . . . g.18724
GTGGAAAAAAGCC | GGAGATTCCAGGCTGCTGATCGTTCAGAGTTGATAAAGACCACAGAA c.600
V E K S R | R F Q A A D R S E L I K T T E p.200
. . . . . . g.18784
AACATAGATGTGTCAATGGACGTGAAGCCTTCCTGGACCACCAGAGATGTGGCACTTACA c.660
N I D V S M D V K P S W T T R D V A L T p.220
. | 09. . . . . g.19151
GTGCACCGGGCTTTCAG | GATGATTGGTCTCTTTTCTCATGGATTCTTGGCTGGCTGTGCT c.720
V H R A F R | M I G L F S H G F L A G C A p.240
. . . . . . g.19211
GTGTGGAATATTGTTGTGATATATGTTCTAGCAGGAGATCAGCTATCCAACCTCTCAAAC c.780
V W N I V V I Y V L A G D Q L S N L S N p.260
. . . . . . g.19271
CTTCTGCAACAATACAAGACCCTAGCGTATCCATTCCAGAGTCTTCTGTACTTGCTTTTG c.840
L L Q Q Y K T L A Y P F Q S L L Y L L L p.280
. . | 10 . . . g.20411
GCTCTGAGTACAATTTCAGCTTTTGACAG | GATTGACTTTGCTAAAATATCAGTAGCAATC c.900
A L S T I S A F D R | I D F A K I S V A I p.300
. . . . | 11 . . g.21132
CGAAATTTTTTGGCCCTGGATCCTACAGCTTTAGCATCTTTCT | TGTACTTTACTGCTCTT c.960
R N F L A L D P T A L A S F L | Y F T A L p.320
. . . . . . g.21192
ATACTATCTCTGAGTCAGCAAATGACAAGTGACAGAATCCACCTTTACACACCTTCTTCT c.1020
I L S L S Q Q M T S D R I H L Y T P S S p.340
. | 12. . . . . g.22425
GTTAATGGTAGCCTCTG | GGAAGCAGGAATTGAGGAACAGATTCTCCAGCCATGGATTGTG c.1080
V N G S L W | E A G I E E Q I L Q P W I V p.360
. . . . . . g.22485
GTGAATCTCGTGGTGGCTCTTCTGGTTGGATTATCTTGGCTATTTTTGTCTTATAGGCCA c.1140
V N L V V A L L V G L S W L F L S Y R P p.380
. | 13 . . . . g.24248
GGCATGGATCTTAGTGAAG | AGTTAATGTTCTCCTCAGAGGTGGAAGAATATCCTGATAAA c.1200
G M D L S E E | L M F S S E V E E Y P D K p.400
. . g.24275
GAGAAAGAAATCAAAGCCTCTTCATAA c.1227
E K E I K A S S X p.408
. . . . . . g.24335
taccagctcacctttggaggaataatgacccagtatttgtcccatttttgtttttaaatg c.*60
. . . . . . g.24395
tatttttataagatgtatacatgtgtatttgtaatagattttttgattatataatactga c.*120
. . . . . . g.24455
aacatctctcaatattatgaaaaatgttaaaattgtgtttgctgtttatgtctaaacatt c.*180
. . . . . . g.24515
aatttgtctagcattatcatcttaatgacaaagggaataatgaactagaaaccagcaagt c.*240
. . . . . . g.24575
gaaagtgtttatttcctattttctcaaaacagttgtatttataactattaccttaaaaag c.*300
. . . . . . g.24635
cactggtttagaaaaagccataacttaaatagtgttataaaatatatatcaggtttaaac c.*360
. . . . . . g.24695
ataaatttagcgaatatggtagaagggaaaaaagccttcatttttgacctccccttactg c.*420
. . . . . . g.24755
aataaattgaaatatgaagtttgtcttttctgaaactggcttagtgattgagtatcatgt c.*480
. . . . . . g.24815
aataattataatataatttagcttgaaagatgctctacattatgaccaataaaaagggaa c.*540
. . . . . . g.24875
tgtatgttttgtttgaaaaattatataacctaaattttttacctagaagtaactaaaaag c.*600
. . . . . . g.24935
ttgcttctcattataatctgtactagtggttctcatatctggttgtacatcaggatcata c.*660
. . . . . . g.24995
gagggagattttaaaaatctatgtagcaaaagaggctgagcagggcaaggctcaggggaa c.*720
. . . . . . g.25055
taaaggagagacctgtgagcttgtgggctcccagttgacatctgcagtaccctttcctct c.*780
. . . . . . g.25115
gtcccttttttctgagtgacaagaaataggagtagaaattcaccatctctgttctccagc c.*840
. . . . . . g.25175
tctttgtcagagaggtttctggttttccaggaaatccccctcttgagatgggtcctgcac c.*900
. . . . . . g.25235
tgggaaagatctcttcagaactatatccaatggtacctcagctgttgtatatgagaccct c.*960
. . . . . . g.25295
aaagctcaagttgaggagaagactagctatgggaaaaaatgtttcaaaggctgttgagca c.*1020
. . . . . . g.25355
catcaataaaactattgagcctgccctgattagcaagcacctgaatgttatagaacagaa c.*1080
. . . . . . g.25415
gaggattgacaaattgatgatagagacagttgaccctgacaataggtctaaatttggagt c.*1140
. . . . . . g.25475
gaacattatactgggaatctcttttgctgtttgtaaggctggagctgccgaaaagggatt c.*1200
. . . . . . g.25535
ctccctgctgtcacagaattgtgaatttgctggcaattctgaaggcatcctgctagttcc c.*1260
. . . . . . g.25595
agctttcactgtgaccagcaatggttctcaatctggcaataagctggcagtataggagtt c.*1320
. . . . . . g.25655
cataatcttccccgtcagcaaacttcagggaagccatgctcgttagagccaaggcttagc c.*1380
. . . . . . g.25715
acacttgagccgtgtcatcaaagagaaatgtgagaaagctgctgccaatgtgggggattg c.*1440
. . . . . . g.25775
tggtaggctgcataatgtctcctaaagatgtccatgtcctaatccctggaacttgtgaat c.*1500
. . . . . . g.25835
atactactttacttggccaaagggatttgcagatatgattaaggttatgaaccttaaaac c.*1560
. . . . . . g.25895
ggggacattatcctgtattatccagaagggtccagtgtaatcttatgagtccttaaaagc c.*1620
. . . . . . g.25955
agagaagaaagccttttatgtctgtggtcagagaggtcagaagttatgatattgctggct c.*1680
. . . . . . g.26015
ttgaagatggaagagggggccatgagccaaggagagtgatgaccttgcagctgagtacgg c.*1740
. . . . . . g.26075
cccttggccaacaatgagcaaggaaatggatttcagtcacataaccacaaggaactgagt c.*1800
. . . . . . g.26135
tctatgagtatcccaaatgagcaaggaaacaaatcctcccctagagccaagaaaggaagg c.*1860
. . . . . . g.26195
cagctctgtggataccttggttttggcctggtgctgcccatgtcatacttttgacataca c.*1920
. . . . . . g.26255
gaactgtaagatagcaagtgtatgttgactaagctgctaaattggtggtgattgcttatg c.*1980
. . . . . . g.26315
gcagcaatagaaagctatatatcctagagaataaagaaggctagagctgctgtggaatgc c.*2040
. . . . . . g.26375
acttgggaaagctggctacattgataatatgtaactgccatgggcatagttgcctttgta c.*2100
. . . . . . g.26435
ttcttccaggtctgggaagtacaacttagacttcagatctcgtaatgacccaggaggcat c.*2160
. . . . . . g.26495
ataaacctgagcagctagtggccctgtacaagtccttcatcagggaaaaacattgagtat c.*2220
. . . . . . g.26555
tccctgattaaggacttgtacagaggactctgttttccctggtgtttctggtgtgtctca c.*2280
. . . . . . g.26615
aaaattgtttgactgtgatgacagggaagtttggaagaagttcactgctaatgcatgtct c.*2340
. . . . . . g.26675
ccaggaagcagggaatgatctcacagtgacacttgaggcacattgctgaggccgtcgatg c.*2400
. . . . . . g.26735
agaattcatgtaactttctccagcttacagtggactagattgacatgcaagctgatccag c.*2460
. . . . . . g.26795
tccaattggtagggcatcatggtttctcattactcactgacttaaaatacttttattgcc c.*2520
. . . . . . g.26855
atcctggtgaagcactgcactgggtagataacacaggggcaccttgctgatcagagccct c.*2580
. . . . . . g.26915
tggccaggtacaaagagctcagtttctaaaactctgtcatttcaataatgttataaattg c.*2640
. . . . . . g.26975
aatcatacagtatgtaattttatgggattcgctttttttctgttgatctctttttttctg c.*2700
. . . . . . g.27035
agtcatctcagctgttgtgtgtatcaatagttcatttccttttactgttttgtttggttt c.*2760
. . . . . . g.27095
aactcattgacctattgaaggatatctgggctcattccagtctgtgaataatgctgctgt c.*2820
. . . . . . g.27155
ggacattcatgtgcaagtttttgtgtgaacattaagttttcatttctttaagataaatgc c.*2880
. . . . . . g.27215
ccaggagtgaaactgatgggttgtatgtagttacaaactgccaagctgttttccagagtt c.*2940
. . . . . . g.27275
ggcggtaccattctaatttcccatgacaattttttgaagagtccaagctagttgctttag c.*3000
. . . . . . g.27335
agtgcctcacctacattttttaattgtctgactttttcctaatgacatcacttaatttgt c.*3060
. . . . . . g.27395
tcctcaatctcctgaatttcctatagactggaggttaggtctggtggtttgattagattt c.*3120
. . . . . . g.27455
tttaaaaaaatatgacttcatctgtgatgctgtgtactttatgttgcataacatgaaccc c.*3180
. . . . . . g.27515
taagaacagagtgagctgctggacagcaagtttcatggggtgcagtaattaacacaccac c.*3240
. . . . . . g.27575
atagtataaatctgaaataatgacaaatgtgttaagggccttgggatattgggccatgta c.*3300
. . . . . . g.27635
ctctgaggagcacaaggtgaggtgcaggttcctgcccctaaagaactctatcttttgaga c.*3360
. . . . . . g.27695
ttagcaactaacagtgtgagcccactaataggatgtgaaagttgtcaaaatcaagttctg c.*3420
. . . . . . g.27755
gtcattgtgttaaaaatcctaacaaatagagctggggaaggccgtgaaaggacgattttc c.*3480
. . . . . . g.27815
atgcacagatgtctgataatgaggactatcattaaaagactgcacaaaaccacaccttgc c.*3540
. . . . . . g.27875
acaaaggccatcacaacctgacacacacaaaaaatacttctatgaggacatttgcccagc c.*3600
. . . . . . g.27935
aactccctgtccaatgtccaactggcaacatccttgttattgatccttgtagccaaggat c.*3660
. . . . . . g.27995
aattctctcaaaacaatcatttttgctttaaaaaccgttgtcttccttgacctccctgta c.*3720
. . . . . . g.28055
tatgcacatagtttactgtggcacttgtattcttattgcaatgcctactcctgaataaac c.*3780
. . . . . . g.28115
atcattttctttcagagagtctccctctctgttatttaggctgacaaggatatgccaaga c.*3840
. . . . . . g.28175
agtagcttggatatagcagttaactctgcctttaggatatgtgtatggggatataagagt c.*3900
. . . . . . g.28235
taactaaaagctgacctttgagttggtccttgaataaaagaagaatagattccaaaaata c.*3960
. . . . . . g.28295
agaggaataaataatgatcctgagctaggagagtacattttgcagacctttggtttccat c.*4020
. . . . . g.28346
attaagaaattcagatttttatgtacaataaagaagttctggaattctctg c.*4071
(downstream sequence)
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