(used for variant description)
(last modified May 23, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001014987.1 in the LAT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering LAT transcript NM_001014987.1.
(upstream sequence)
. . . . . g.5292
caggcgggcgggagggcgggcacggagaggcgggcgccgaggaggggcaggt c.-301
. . . . . . g.5352
agggctgggacgcaggggtaactggatcccccgacttcagcccaggccctggtctgacca c.-241
. . . . . . g.5412
ccctgggagcagggactttccacagtcagctggacgcacactcagcccagtaaaagaggg c.-181
. . . . . . g.5472
gacccatcccgggagccccggggagggcacagctgcctcctcccgggctcccctgccacc c.-121
. . . . . . g.5532
tggtgcctacctgccccctgctccctgccgggtccggtcctcaccccatcttcatctggc c.-61
. . . . . . g.5592
cttgactctgcccttgaggggcctaggggtgcagccagcctgctccgagctcccctgcag c.-1
. . . . . . g.5652
ATGGAGGAGGCCATCCTGGTCCCCTGCGTGCTGGGGCTCCTGCTGCTGCCCATCCTGGCC c.60
M E E A I L V P C V L G L L L L P I L A p.20
. . . . | 02 . . g.5907
ATGTTGATGGCACTGTGTGTGCACTGCCACAGACTGCCAG | GCTCCTACGACAGCACATCC c.120
M L M A L C V H C H R L P G | S Y D S T S p.40
| 03 . . . | 04 . . g.6326
TCAGATAG | TTTGTATCCAAGGGGCATCCAGTTCAAACGGCCTC | ACACGGTTGCCCCCTGG c.180
S D S | L Y P R G I Q F K R P H | T V A P W p.60
. . . . . . g.6386
CCACCTGCCTACCCACCTGTCACCTCCTACCCACCCCTGAGCCAGCCAGACCTGCTCCCC c.240
P P A Y P P V T S Y P P L S Q P D L L P p.80
| 05 . . . . . . g.6611
ATCCC | AAGATCCCCGCAGCCCCTTGGGGGCTCCCACCGGACGCCATCTTCCCGGCGGGAT c.300
I P | R S P Q P L G G S H R T P S S R R D p.100
. | 06 . . . | 07 . . g.6851
TCTGATGGTG | CCAACAGTGTGGCGAGCTACGAGAACGAGG | AACCAGCCTGTGAGGATGCG c.360
S D G A | N S V A S Y E N E E | P A C E D A p.120
. . . | 08 . . g.6995
GATGAGGATGAGGACGACTATCACAACCCAGGCTACCT | GGTGGTGCTTCCTGACAGCACC c.420
D E D E D D Y H N P G Y L | V V L P D S T p.140
. . . . . . g.7055
CCGGCCACTAGCACTGCTGCCCCATCAGCTCCTGCACTCAGCACCCCTGGCATCCGAGAC c.480
P A T S T A A P S A P A L S T P G I R D p.160
. | 09 . . . . . g.9748
AGTGCCTTCTCCA | TGGAGTCCATTGATGATTACGTGAACGTTCCGGAGAGCGGGGAGAGC c.540
S A F S M | E S I D D Y V N V P E S G E S p.180
. | 10 . . . . . g.9992
GCAGAAGCGTCTCTGG | ATGGCAGCCGGGAGTATGTGAATGTGTCCCAGGAACTGCATCCT c.600
A E A S L D | G S R E Y V N V S Q E L H P p.200
. . | 11 . . . . g.10145
GGAGCGGCTAAGACTGAGCCTG | CCGCCCTGAGTTCCCAGGAGGCAGAGGAAGTGGAGGAA c.660
G A A K T E P A | A L S S Q E A E E V E E p.220
. . . . g.10187
GAGGGGGCTCCAGATTACGAGAATCTGCAGGAGCTGAACTGA | c.703
E G A P D Y E N L Q E L N X p.233
| 12. . . . . . g.10416
gggcctg | tggaggccgagtctgtcctggaaccaggcttgcctgggacggctgagctgggc c.*60
. . . . . . g.10476
agctggaagtggctctggggtcctcacatggcgtcctgcccttgctccagcctgacaaca c.*120
. . . . . . g.10536
gcctgagaaatccccccgtaacttattatcactttggggttcggcctgtgtcccccgaac c.*180
. . . . . . g.10596
gctctgcaccttctgacgcagcctgagaatgacctgccctggccccagccctactctgtg c.*240
. . . . . . g.10656
taatagaataaaggcctgcgtgtgtctgtgttgagcgtgcgtctgtgtgtgcctgtgtgc c.*300
. . . . . . g.10716
gagtctgagtcagagatttggagatgtctctgtgtgtttgtgtgtatctgtgggtctcca c.*360
. . . . . . g.10776
tcctccatgggggctcagccaggtgctgtgacaccccccttctgaatgaagccttctgac c.*420
. . . . . . g.10836
ctgggctggcactgctgggggtgaggacacattgccccatgagacagtcccagaacacgg c.*480
. . . . . . g.10896
cagctgctggctgtgacaatggtttcaccatccttagaccaagggatgggacctgatgac c.*540
. . . . . . g.10956
ctgggaggactctcttagttcttaccttttgtggttctcaataaaacagaacttaaaaaa c.*600
g.10958
tt c.*602
(downstream sequence)
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