(used for variant description)
(last modified October 16, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_138462.2 in the ZMYND19 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering ZMYND19 transcript NM_138462.2.
(upstream sequence)
. . . . g.5042
gcggtggcggcggcggcggcggcgcgtggcaggtccggcggg c.-181
. . . . . . g.5102
cgcgaggcggcggcggaggcccgagcccggcccagcctcgtcccgcccggagcccgcctg c.-121
. . . . . . g.5162
gctgctaccccgaccccggctccggtcccgtcctgtcccggcgcgccgcggcctcgcccc c.-61
. . . . . . g.5222
ggcccccgctcggcgcctcccgagggagcggcgctgccggccgagagcgcaggcccggcc c.-1
. . . . . | 02 . g.6776
ATGACCGACTTCAAATTGGGTATCGTGCGGCTCGGCCGGGTGGCCGGGAAG | ACCAAATAC c.60
M T D F K L G I V R L G R V A G K | T K Y p.20
. . . . . | 03 . g.7671
ACGCTGATCGATGAGCAGGACATCCCGCTGGTGGAGAGCTACTCCTTTGAG | GCCCGAATG c.120
T L I D E Q D I P L V E S Y S F E | A R M p.40
. . . . . . g.7731
GAAGTGGATGCAGATGGAAATGGTGCTAAGATATTTGCCTATGCCTTTGACAAGAACCGA c.180
E V D A D G N G A K I F A Y A F D K N R p.60
. . . | 04 . . g.8400
GGAAGGGGCTCTGGGAGACTCCTTCATGAGCTGCTGTG | GGAGCGGCACCGGGGGGGCGTG c.240
G R G S G R L L H E L L W | E R H R G G V p.80
. . . . . . g.8460
GCCCCGGGCTTCCAGGTGGTGCACCTCAACGCTGTGACCGTGGACAATCGCCTGGACAAC c.300
A P G F Q V V H L N A V T V D N R L D N p.100
. . . . . | 05 g.12323
CTGCAACTGGTGCCGTGGGGCTGGCGGCCCAAGGCTGAAGAGACCTCCAGCAAGCAGAG | G c.360
L Q L V P W G W R P K A E E T S S K Q R | p.120
. . . . . . g.12383
GAGCAAAGCTTGTATTGGCTTGCAATTCAGCAGCTGCCTACAGACCCTATAGAAGAACAG c.420
E Q S L Y W L A I Q Q L P T D P I E E Q p.140
. . . . . . g.12443
TTTCCTGTCCTAAATGTGACCCGGTATTATAATGCCAACGGGGATGTAGTGGAAGAGGAG c.480
F P V L N V T R Y Y N A N G D V V E E E p.160
. . . . . . g.12503
GAGAACTCTTGCACCTACTATGAGTGCCACTACCCTCCCTGCACAGTGATTGAGAAGCAG c.540
E N S C T Y Y E C H Y P P C T V I E K Q p.180
| 06 . . . . . . g.12859
| CTCCGGGAGTTCAACATCTGTGGGCGCTGCCAGGTGGCCCGGTACTGCGGCTCCCAGTGC c.600
| L R E F N I C G R C Q V A R Y C G S Q C p.200
. . . . . . g.12919
CAGCAGAAGGACTGGCCTGCCCACAAGAAGCACTGTCGGGAGAGGAAGCGTCCCTTCCAG c.660
Q Q K D W P A H K K H C R E R K R P F Q p.220
. . g.12943
CATGAGCTTGAGCCAGAGCGATGA c.684
H E L E P E R X p.227
. . . . . . g.13003
cgggcaggggagccacacatactcacagcccccgggctctaccctgggcacagcagagac c.*60
. . . . . . g.13063
agactggtggttgaacctggaggtgccaaaaaagccagctgcgggcccaggacagctgcc c.*120
. . . . . . g.13123
gtgagactcccgatgtcacaggcagtctgtgtggttacagcgcccctcagtgttcatctc c.*180
. . . . . . g.13183
cagcagagacaacggaggaggctcccaccaggacggttctcattatttatatgttaatat c.*240
. . . . . . g.13243
gtttgtaaactcatgtacagttttttttgggggggaggcaatgggaagggtagaaattac c.*300
. . . . . . g.13303
aaatagaatcatttgctgtaatccttaaatggcaaacggtcaggccacgtgactaaaaac c.*360
. . . . . . g.13363
tgtcctgttgtcgaagcttctcccctgggccgccgggagccccgtggagcgcggcctgca c.*420
. . . . g.13407
cgggagttgtgtccacaaaggcaaagtaaaggggtggaatcatc c.*464
(downstream sequence)
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