(used for variant description)
(last modified December 22, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_005149.2 in the TBX19 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering TBX19 transcript NM_005149.2.
(upstream sequence)
. . . . . g.5051
tagaagcaggcaagttgggtaacggctctcggcaaagttcgagaagtgcct c.-1
. . . . . . g.5111
ATGGCCATGAGTGAGCTGGGCACTCGGAAGCCCAGCGATGGCACTGTTTCTCATCTGCTC c.60
M A M S E L G T R K P S D G T V S H L L p.20
. . . . . . g.5171
AATGTGGTGGAGAGTGAGCTTCAGGCAGGGAGGGAAAAAGGCGACCCTACGGAGAAGCAA c.120
N V V E S E L Q A G R E K G D P T E K Q p.40
. . . . . . g.5231
CTTCAGATCATCCTGGAGGATGCACCTCTCTGGCAGAGATTCAAGGAAGTCACTAATGAG c.180
L Q I I L E D A P L W Q R F K E V T N E p.60
. . | 02 . . . . g.15157
ATGATTGTGACCAAGAATGGCAG | ACGGATGTTTCCAGTCCTAAAGATTAGTGTCACAGGG c.240
M I V T K N G R | R M F P V L K I S V T G p.80
. . . . . . g.15217
TTGGACCCCAATGCCATGTACTCCCTCCTGCTGGACTTTGTCCCTACGGACAGTCACCGC c.300
L D P N A M Y S L L L D F V P T D S H R p.100
. . . . . . g.15277
TGGAAGTACGTCAACGGGGAATGGGTGCCCGCTGGCAAGCCAGAGGTCTCCAGCCACAGC c.360
W K Y V N G E W V P A G K P E V S S H S p.120
. . . . . . g.15337
TGCGTCTACATTCACCCGGACTCCCCCAACTTTGGGGCCCACTGGATGAAAGCTCCCATC c.420
C V Y I H P D S P N F G A H W M K A P I p.140
. . . . | 03 . g.17116
TCCTTCAGCAAAGTGAAGCTGACCAACAAGCTCAATGGAGGCGGGCAG | ATAATGTTGAAT c.480
S F S K V K L T N K L N G G G Q | I M L N p.160
. . . . . . g.17176
TCTCTGCATAAATATGAACCCCAGGTTCACATAGTGCGTGTTGGAAGTGCCCATCGAATG c.540
S L H K Y E P Q V H I V R V G S A H R M p.180
. . . . . . g.17236
GTAACAAACTGCTCCTTCCCTGAAACCCAGTTCATAGCCGTGACTGCCTATCAGAATGAG c.600
V T N C S F P E T Q F I A V T A Y Q N E p.200
| 04 . . . . . . g.21741
GAG | ATAACGGCTCTCAAAATCAAGTACAATCCTTTTGCCAAAGCCTTCTTGGATGCCAAG c.660
E | I T A L K I K Y N P F A K A F L D A K p.220
| 05 . . . . . . g.24437
GAAAG | AAATCACCTAAGAGACGTACCGGAGGCTATCTCTGAGAGCCAGCATGTGACCTAT c.720
E R | N H L R D V P E A I S E S Q H V T Y p.240
| 06. . . . . . g.29021
TCTCACT | TGGGAGGCTGGATCTTTTCCAATCCAGATGGAGTGTGCACAGCAGGAAACTCC c.780
S H L | G G W I F S N P D G V C T A G N S p.260
. . . . . . g.29081
AATTACCAGTATGCCGCTCCTCTGCCTCTGCCTGCTCCCCACACCCACCATGGCTGTGAG c.840
N Y Q Y A A P L P L P A P H T H H G C E p.280
. . . . . . g.29141
CACTATTCGGGTCTCCGAGGACACCGGCAGGCTCCCTACCCTTCTGCGTACATGCACAGA c.900
H Y S G L R G H R Q A P Y P S A Y M H R p.300
. | 07 . . . . . g.32746
AACCATTCTCCCTCAG | TGAATTTGATAGAAAGCTCAAGCAATAATCTGCAAGTTTTCTCG c.960
N H S P S V | N L I E S S S N N L Q V F S p.320
. . . . . . g.32806
GGACCTGACAGCTGGACTTCCTTATCCTCCACACCCCATGCCAGCATCCTGTCTGTACCC c.1020
G P D S W T S L S S T P H A S I L S V P p.340
. . . | 08 . . . g.36696
CACACCAACGGACCAATCAATCCAGGGCCCAG | CCCCTACCCGTGCCTGTGGACCATCAGC c.1080
H T N G P I N P G P S | P Y P C L W T I S p.360
. . . . . . g.36756
AATGGTGCCGGAGGCCCCAGTGGGCCAGGCCCGGAGGTGCACGCCAGCACCCCAGGAGCA c.1140
N G A G G P S G P G P E V H A S T P G A p.380
. . . . . . g.36816
TTTCTCCTCGGAAACCCAGCTGTGACTTCACCCCCTTCTGTGCTCTCCACCCAAGCACCC c.1200
F L L G N P A V T S P P S V L S T Q A P p.400
. . . . . . g.36876
ACTTCGGCTGGTGTGGAGGTTCTGGGGGAGCCCTCGCTAACCAGCATTGCTGTGTCCACC c.1260
T S A G V E V L G E P S L T S I A V S T p.420
. . . . . . g.36936
TGGACAGCAGTGGCCTCGCATCCCTTCGCGGGCTGGGGTGGCCCAGGAGCGGGTGGGCAC c.1320
W T A V A S H P F A G W G G P G A G G H p.440
. . g.36963
CATTCTCCTTCCTCACTGGATGGTTAA c.1347
H S P S S L D G X p.448
. . . . . . g.37023
gcaggatcctaggagcctctttgcacagcgatccttccatgtgtagagtgcttagaaacc c.*60
. . . . . . g.37083
ccatcaactgatctagtgagtcagactgtggaatctcccttcccactagctggaggtgga c.*120
. . . . . . g.37143
ggtgggttattacagaagtcatactgggagagggttcagtttggatgatgctagttagat c.*180
. . . . . . g.37203
catttgcatctctccaccattttcttctgcactcccattttctctgcagcttattcttgc c.*240
. . . . . . g.37263
catgcttaggtgacagaagtttgttaagtaccatccttgtgccctgcctcttattctcaa c.*300
. . . . . . g.37323
atcgttctggaaagcctcacttccttttctgtggagaaggtgcaaagctgttaaatgagc c.*360
. . . . . . g.37383
tcagagtttacctagctaaggccactgcttcctgctttgtgaagcctggaaagtatgtgt c.*420
. . . . . . g.37443
ggccacagggctcaggttcacacttctgctttgagaccaggatggggtgtaagccataga c.*480
. . . . . . g.37503
gtaaggttaacaaaaagaataaagctaatcatgtattacaaacagcagtgtgcccagact c.*540
. . . . . . g.37563
tgtggaaatgaagtcatgtcactcctctgctcagaaaccttcaatggttcaccattacca c.*600
. . . . . . g.37623
gtggaatgaagtcaattctcctcactataactgggtgtggtagtttaagcctataatctc c.*660
. . . . . . g.37683
agcccttttggaggccaaggtaagaggatcgcttgaggtcaggagttcgagaccagcttg c.*720
. . . . . . g.37743
tgcaacaaagtgagagcctgtctctacaaaaaatagtcatgcacacaaaattagctgggc c.*780
. . . . . . g.37803
atggtggcctgtgcctatagtcccaactacttagaggaggatcgcttgatctcaggaggt c.*840
. . . . . . g.37863
tgaggctgcagtgaattatgattgtggcattgcactccagcctgggtggtagatcaaggc c.*900
. . . . . . g.37923
tttgtttcatttgaaaaaaaagaaagaaagaaagaaagaaagaaatcctactacgagcga c.*960
. . . . . . g.37983
tcacaccatctggcctgaaaccacttccccagcttaggtccctctgttatcctgttggcc c.*1020
. . . . . . g.38043
tcctatgtattggtcaaggcaggcatctctgttctctgaacattcattgcactttcccac c.*1080
. . . . . . g.38103
ctctataccttgcctgtgccttagtgtcctcttttttccagttcacctgtgcgaatccga c.*1140
. . . . . . g.38163
cccacctcccagagcctggctgaaacgtcactccctgcatccaacatctgatctgctgag c.*1200
. . . . . . g.38223
atatgtctgatctatctctgctcgctgttctcccgttgtttttgcctctgccatagagct c.*1260
. . . . . . g.38283
cacctcattttgccttgtatttttgttacctgtgagtgtgtctctccctattagactgta c.*1320
. . . . . . g.38343
agcctctcgagggtgaggcctagccttcttgtctttgtaacccacagcagctggtactgt c.*1380
. . . . g.38387
gccttgcctattgtaggtgcccaataaacatttgctgaactgaa c.*1424
(downstream sequence)
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