(used for variant description)
(last modified September 24, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_012338.3 in the TSPAN12 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023203.1, covering TSPAN12 transcript NM_012338.3.
(upstream sequence)
. g.5014
ggccctggctgccg c.-361
. . . . . . g.5074
ccgctgcctcgtccggactcggagaggacttgggagggacagcggcgctgggaggtggct c.-301
. . . . . . g.5134
tagcagagactttccagcaactgctgcccaggacttttttttttttttttctttttccca c.-241
. . . . . . g.5194
ggaggcggcgacggcggcggcggggggagaggaagagaaagaagcgtctccagctgaagc c.-181
. . . . . . g.5254
caatgcagccctccggctctccgcgaagaagttccctgccccgatgagcccccgccgtgc c.-121
. . . . . | 02 g.6300
gtccccgactatccccaggcgggcgtggggcaccgggcccagcgccgacg | atcgctgccg c.-61
. . . . . . g.6360
ttttgcccttgggagtaggatgtggtgaaaggatggggcttctcccttacggggctcaca c.-1
. . . . . . g.6420
ATGGCCAGAGAAGATTCCGTGAAGTGTCTGCGCTGCCTGCTCTACGCCCTCAATCTGCTC c.60
M A R E D S V K C L R C L L Y A L N L L p.20
| 03 . . . . . . g.23068
TTTTGG | TTAATGTCCATCAGTGTGTTGGCAGTTTCTGCTTGGATGAGGGACTACCTAAAT c.120
F W | L M S I S V L A V S A W M R D Y L N p.40
. . | 04 . . . g.24242
AATGTTCTCACTTTAACTGCAGAAACGAG | GGTAGAGGAAGCAGTCATTTTGACTTACTTT c.180
N V L T L T A E T R | V E E A V I L T Y F p.60
. . . . . . g.24302
CCTGTGGTTCATCCGGTCATGATTGCTGTTTGCTGTTTCCTTATCATTGTGGGGATGTTA c.240
P V V H P V M I A V C C F L I I V G M L p.80
. . . . | 05 . . g.47335
GGATATTGTGGAACGGTGAAAAGAAATCTGTTGCTTCTTGCATGG | TACTTTGGAAGTTTG c.300
G Y C G T V K R N L L L L A W | Y F G S L p.100
. . . . . . g.47395
CTTGTCATTTTCTGTGTAGAACTGGCTTGTGGCGTTTGGACATATGAACAGGAACTTATG c.360
L V I F C V E L A C G V W T Y E Q E L M p.120
| 06 . . . . . . g.52613
| GTTCCAGTACAATGGTCAGATATGGTCACTTTGAAAGCCAGGATGACAAATTATGGATTA c.420
| V P V Q W S D M V T L K A R M T N Y G L p.140
. . . . | 07 . g.56443
CCTAGATATCGGTGGCTTACTCATGCTTGGAATTTTTTTCAGAGAGAG | TTTAAGTGCTGT c.480
P R Y R W L T H A W N F F Q R E | F K C C p.160
. . . . . . g.56503
GGAGTAGTATATTTCACTGACTGGTTGGAAATGACAGAGATGGACTGGCCCCCAGATTCC c.540
G V V Y F T D W L E M T E M D W P P D S p.180
. . . . . . g.56563
TGCTGTGTTAGAGAATTCCCAGGATGTTCCAAACAGGCCCACCAGGAAGATCTCAGTGAC c.600
C C V R E F P G C S K Q A H Q E D L S D p.200
. | 08 . . . . . g.74274
CTTTATCAAGAG | GGTTGTGGGAAGAAAATGTATTCCTTTTTGAGAGGAACCAAACAACTG c.660
L Y Q E | G C G K K M Y S F L R G T K Q L p.220
. . . . . . g.74334
CAGGTGCTGAGGTTTCTGGGAATCTCCATTGGGGTGACACAAATCCTGGCCATGATTCTC c.720
Q V L R F L G I S I G V T Q I L A M I L p.240
. . . . . . g.74394
ACCATTACTCTGCTCTGGGCTCTGTATTATGATAGAAGGGAGCCGGGGACAGACCAAATG c.780
T I T L L W A L Y Y D R R E P G T D Q M p.260
. . . . . . g.74454
ATGTCCTTGAAGAATGACAACTCTCAGCACCTGTCATGTCCCTCAGTAGAACTGTTGAAA c.840
M S L K N D N S Q H L S C P S V E L L K p.280
. . . . . . g.74514
CCAAGCCTGTCAAGAATCTTTGAACACACATCCATGGCAAACAGCTTTAATACACACTTT c.900
P S L S R I F E H T S M A N S F N T H F p.300
. g.74532
GAGATGGAGGAGTTATAA c.918
E M E E L X p.305
. . . . . . g.74592
aaagaaatgtcacagaagaaaaccacaaacttgttttactggacttgtgaatttttgagt c.*60
. . . . . . g.74652
acatactatgtgtttcagaaatatgtagaaataaaaatgttgccataaaataacacctaa c.*120
. . . . . . g.74712
gcatatactattctatgctttaaaatgaggatggaaaagtttcatgtcataagtcaccac c.*180
. . . . . . g.74772
ctggacaataattgatgcccttaaaatgctgaagacagatgtcatacccactgtgtagcc c.*240
. . . . . . g.74832
tgtgtatgacttttactgaacacagttatgttttgaggcagcatggtttgattagcattt c.*300
. . . . . . g.74892
ccgcatccatgcaaacgagtcacatatggtgggactggagccatagtaaaggttgattta c.*360
. . . . . . g.74952
cttctaccaactagtatataaagtactaattaaatgctaacataggaagttagaaaatac c.*420
. . . . . . g.75012
taataacttttattactcagcgatctattcttctgatgctaaataaattatatatcagaa c.*480
. . . . . . g.75072
aactttcaatattggtgactacctaaatgtgatttttgctggttactaaaatattcttac c.*540
. . . . . . g.75132
cacttaaaagagcaagctaacacattgtcttaagctgatcagggattttttgtatataag c.*600
. . . . . . g.75192
tctgtgttaaatctgtataattcagtcgatttcagttctgataatgttaagaataaccat c.*660
. . . . . . g.75252
tatgaaaaggaaaatttgtcctgtatagcatcattatttttagcctttcctgttaataaa c.*720
. . . . . . g.75312
gctttactattctgtcctgggcttatattacacatataactgttatttaaatacttaacc c.*780
. . . . . . g.75372
actaattttgaaaattaccagtgtgatacataggaatcattattcagaatgtagtctggt c.*840
. . . . . . g.75432
ctttaggaagtattaataagaaaatttgcacataacttagttgattcagaaaggacttgt c.*900
. . . . . . g.75492
atgctgtttttctcccaaatgaagactctttttgacactaaacactttttaaaaagctta c.*960
. . . . . . g.75552
tctttgccttctccaaacaagaagcaatagtctccaagtcaatataaattctacagaaaa c.*1020
. . . . . . g.75612
tagtgttctttttctccagaaaaatgcttgtgagaatcattaaaacatgtgacaatttag c.*1080
. . . . . . g.75672
agattctttgttttatttcactgattaatatactgtggcaaattacacagattattaaat c.*1140
. . . . . . g.75732
ttttttacaagagtatagtatatttatttgaaatgggaaaagtgcattttactgtatttt c.*1200
. . . . . . g.75792
gtgtattttgtttatttctcagaatatggaaagaaaattaaaatgtgtcaataaatattt c.*1260
. g.75804
tctagagagtaa c.*1272
(downstream sequence)
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