(used for variant description)
(last modified June 21, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_001135686.1 in the TARM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering TARM1 transcript NM_001135686.1.
(upstream sequence)
. . g.5025
actctgggagggctaaggagccatc c.-1
. . . | 02 . . . g.10490
ATGATCCCTAAGCTGCTTTCCCTCCTCTGTTTCA | GACTGTGCGTGGGCCAAGGAGACACA c.60
M I P K L L S L L C F R | L C V G Q G D T p.20
. | 03 . . . . . g.11318
AGGGGAGATG | GGTCACTGCCCAAGCCGTCCCTCAGTGCCTGGCCCAGCTCGGTGGTCCCT c.120
R G D G | S L P K P S L S A W P S S V V P p.40
. . . . . . g.11378
GCCAACAGCAATGTGACGCTGCGATGTTGGACTCCTGCCAGAGGTGTGAGCTTTGTTCTC c.180
A N S N V T L R C W T P A R G V S F V L p.60
. . . . . . g.11438
AGGAAGGGAGGAATTATTCTGGAGTCCCCGAAGCCCCTTGATTCTACAGAGGGCGCGGCC c.240
R K G G I I L E S P K P L D S T E G A A p.80
. . . . . . g.11498
GAATTTCACCTCAATAATCTAAAAGTCAGAAATGCTGGAGAGTACACCTGTGAATACTAC c.300
E F H L N N L K V R N A G E Y T C E Y Y p.100
. . . . . . g.11558
AGAAAAGCATCCCCCCACATCCTTTCACAGCGCAGTGACGTCCTTCTACTGTTGGTGACA c.360
R K A S P H I L S Q R S D V L L L L V T p.120
| 04 . . . . . . g.12225
G | GACATTTATCTAAACCTTTCCTCCGAACCTACCAAAGGGGTACAGTGACCGCAGGTGGA c.420
G | H L S K P F L R T Y Q R G T V T A G G p.140
. . . . . . g.12285
AGGGTGACTCTGCAGTGCCAGAAGCGAGACCAATTGTTTGTGCCTATCATGTTCGCTCTA c.480
R V T L Q C Q K R D Q L F V P I M F A L p.160
. . . . . . g.12345
CTGAAGGCAGGGACGCCATCACCCATCCAGCTGCAGAGTCCAGCGGGGAAGGAGATAGAC c.540
L K A G T P S P I Q L Q S P A G K E I D p.180
. . . . . . g.12405
TTCTCTCTGGTGGACGTGACAGCCGGCGATGCTGGGAACTACAGCTGCATGTACTACCAG c.600
F S L V D V T A G D A G N Y S C M Y Y Q p.200
. . . . . | 05 g.16222
ACAAAGTCTCCCTTCTGGGCCTCAGAACCCAGTGATCAGCTTGAGATATTGGTGACAG | TT c.660
T K S P F W A S E P S D Q L E I L V T V | p.220
. . . . . . g.16282
CCCCCAGGTACCACATCGAGCAACTACTCCCTGGGTAACTTCGTACGACTGGGTCTGGCT c.720
P P G T T S S N Y S L G N F V R L G L A p.240
. . . . . . g.16342
GCCGTAATTGTGGTTATCATGGGAGCTTTCCTGGTGGAGGCCTGGTACAGCCGGAATGTG c.780
A V I V V I M G A F L V E A W Y S R N V p.260
. . . g.16378
TCTCCAGGTGAATCAGAGGCCTTCAAACCAGAGTGA c.816
S P G E S E A F K P E X p.271
. . . . . g.16434
ctccatcttgaaccggggctgggtaaactgaggctgcaacctgctggactgcattc c.*56
(downstream sequence)
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