(used for variant description)
(last modified November 26, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_021961.5 in the TEAD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021302.1, covering TEAD1 transcript NM_021961.5.
(upstream sequence)
. . g.5020
ttccgaacattcttagcatc c.-601
. . . . . . g.5080
gctcgcgccgcgccgcgccgcctgagccgagccgagcctctgctgccgccgccgcggccc c.-541
. . . . . . g.5140
cgccgcccgccgcgggcgcccaccaagcactttgcagactcgcttccaccctgcgggcca c.-481
. . . . . . g.5200
ttccgcgcggcggggcccgggcccggggcggccgcgtccaggcacaggccatgcagtgac c.-421
. . . . . . g.5260
gcccccccacccctccacctttgcccggagcgcgggcagcagcccagcgcgccagccggc c.-361
. . . . . . g.5320
cccggggcaggagcggtgctaggcaggggtggggtggccgggcccagggaccgggagccg c.-301
. . . . . . g.5380
gggagggagccgggcaccgagcagagggcgggggaagcggcgccgaagtttgcctcggac c.-241
. . . . | 02 . . g.6014
tcgccgggcgctgcggtggctccctgggccgag | gactgttgctgccgctgccgccgccgc c.-181
. . . . . . g.6074
ttcattgcacattcaagtggaaaattttcaggagtcagcagaaacattgtgtccaaaaaa c.-121
. . . . . . g.6134
gactgagtcgcagttaccaccaaacccaggaggagactctccctggaaaacttcccttcc c.-61
. | 03 . . . . . g.94811
ctttcg | gtttattttcttgaaaaggctccaggcttcggcttggaaaatcccaccgccaaa c.-1
. . . . . . g.94871
ATTGAGCCCAGCAGCTGGAGCGGCAGTGAGAGCCCTGCCGAAAACATGGAAAGGATGAGT c.60
I E P S S W S G S E S P A E N M E R M S p.20
. . . . . . g.94931
GACTCTGCAGATAAGCCAATTGACAATGATGCAGAAGGGGTCTGGAGCCCCGACATCGAG c.120
D S A D K P I D N D A E G V W S P D I E p.40
. . . . . . g.94991
CAAAGCTTTCAGGAGGCCCTGGCTATCTATCCACCATGTGGGAGGAGGAAAATCATCTTA c.180
Q S F Q E A L A I Y P P C G R R K I I L p.60
. . | 04 . . . . g.192866
TCAGACGAAGGCAAAATGTATG | GTAGGAATGAATTGATAGCCAGATACATCAAACTCAGG c.240
S D E G K M Y G | R N E L I A R Y I K L R p.80
. . | 05. . . . g.195449
ACAGGCAAGACGAGGACCAGAAAACAG | GTGTCTAGTCACATTCAGGTTCTTGCCAGAAGG c.300
T G K T R T R K Q | V S S H I Q V L A R R p.100
. . . | 06 . . . g.210316
AAATCTCGTGATTTTCATTCCAAGCTAAAG | GATCAGACTGCAAAGGATAAGGCCCTGCAG c.360
K S R D F H S K L K | D Q T A K D K A L Q p.120
. . . . . . g.210376
CACATGGCGGCCATGTCCTCAGCCCAGATCGTCTCGGCCACTGCCATTCATAACAAGCTG c.420
H M A A M S S A Q I V S A T A I H N K L p.140
. . . . | 07 . . g.211598
GGGCTGCCTGGGATTCCACGCCCGACCTTCCCAGGGGCGCCGGGG | TTCTGGCCGGGAATG c.480
G L P G I P R P T F P G A P G | F W P G M p.160
. . . | 08 . . . g.212502
ATTCAAACAGGGCAGCCAGGATCCTCACAAGA | CGTCAAGCCTTTTGTGCAGCAGGCCTAC c.540
I Q T G Q P G S S Q D | V K P F V Q Q A Y p.180
. . . | 09 . . . g.213605
CCCATCCAGCCAGCGGTCACAGCCCCCATTCCAG | GGTTTGAGCCTGCATCGGCCCCAGCT c.600
P I Q P A V T A P I P G | F E P A S A P A p.200
. . . . . . g.213665
CCCTCAGTCCCTGCCTGGCAAGGTCGCTCCATTGGCACAACCAAGCTTCGCCTGGTGGAA c.660
P S V P A W Q G R S I G T T K L R L V E p.220
. . . | 10 . . g.232539
TTTTCAGCTTTTCTCGAGCAGCAGCGAGACCCAGACTCG | TACAACAAACACCTCTTCGTG c.720
F S A F L E Q Q R D P D S | Y N K H L F V p.240
. . . . . . g.232599
CACATTGGGCATGCCAACCATTCTTACAGTGACCCATTGCTTGAATCAGTGGACATTCGT c.780
H I G H A N H S Y S D P L L E S V D I R p.260
. . . . . . g.232659
CAGATTTATGACAAATTTCCTGAAAAGAAAGGTGGCTTAAAGGAACTGTTTGGAAAGGGC c.840
Q I Y D K F P E K K G G L K E L F G K G p.280
. . . | 11 . . . g.255517
CCTCAAAATGCCTTCTTCCTCGTAAAATTCTGG | GCTGATTTAAACTGCAATATTCAAGAT c.900
P Q N A F F L V K F W | A D L N C N I Q D p.300
. . . . . . g.255577
GATGCTGGGGCTTTTTATGGTGTAACCAGTCAGTACGAGAGTTCTGAAAATATGACAGTC c.960
D A G A F Y G V T S Q Y E S S E N M T V p.320
. . . . . | 12 . g.260758
ACCTGTTCCACCAAAGTTTGCTCCTTTGGGAAGCAAGTAGTAGAAAAAGTAGAG | ACGGAG c.1020
T C S T K V C S F G K Q V V E K V E | T E p.340
. . . . . . g.260818
TATGCAAGGTTTGAGAATGGCCGATTTGTATACCGAATAAACCGCTCCCCAATGTGTGAA c.1080
Y A R F E N G R F V Y R I N R S P M C E p.360
. . . . . . g.260878
TATATGATCAACTTCATCCACAAGCTCAAACACTTACCAGAGAAATATATGATGAACAGT c.1140
Y M I N F I H K L K H L P E K Y M M N S p.380
. . | 13. . . . g.267720
GTTTTGGAAAACTTCACAATTTTATTG | GTGGTAACAAACAGGGATACACAAGAAACTCTA c.1200
V L E N F T I L L | V V T N R D T Q E T L p.400
. . . . . . g.267780
CTCTGCATGGCCTGTGTGTTTGAAGTTTCAAATAGTGAACACGGAGCACAACATCATATT c.1260
L C M A C V F E V S N S E H G A Q H H I p.420
. . g.267801
TACAGGCTTGTAAAGGACTGA c.1281
Y R L V K D X p.426
. . . . . . g.267861
acatggttatttatatatatagatatctgtatatacacacacacatatgtgcacacacac c.*60
. . . . . . g.267921
actctctctccattatcgaacgactgactgtaaacctcaccacacagggtggtgccctgg c.*120
. . . . . . g.267981
ccccgaggtcaccccgacttttctaaatcttgtttgagtgaagtcattttttcatgtgtt c.*180
. . . . . . g.268041
catactatcattgtagctgtgaagttctggtacagttgtaaaaagagaaattgagttgtt c.*240
. . . . . . g.268101
tctctatgttcttcagatgtgcagcccacaattcctcgggaaaggtgaacctgaacaacc c.*300
. . . . . . g.268161
caagtctctctctgcagagccctgtttctaattgtggtagaaaatattgagacagagcat c.*360
. . . . . . g.268221
ttgccatgggacatttacagcctttatacaaatgtatttagttctcttttttccaacata c.*420
. . . . . . g.268281
aaattcttgttttaagatacaagtaaaattaatctttaaatataaatgtaaattagtaca c.*480
. . . . . . g.268341
caaaactaagaatctttagacttatctttgtaactaattagggtggaagttatgaaagaa c.*540
. . . . . . g.268401
tgtaattcactaaattattttttaaatgaaacctttttttttctttttgaaaccaaatgt c.*600
. . . . . . g.268461
taaactatagccttaagaaatgcttggtagaagtgtcctaatgagacaaatttgtacttt c.*660
. . . . . . g.268521
tatcctcaaggttaacactaatctcctaatccattaaactcttgaacaggtattacaaag c.*720
. . . . . . g.268581
gaagaaaacttcaccccttatccttaacatatatagtatatttaaaaaatataaaattgt c.*780
. . . . . . g.268641
attgtactaatgtgatgatggattatttaatgaaaaagaaaaaatggctctttttgcaat c.*840
. . . . . . g.268701
aagtagatacatactgaaaaaatctaaacttacaatgtttatagtcttgtgtgtgcagtt c.*900
. . . . . . g.268761
atattttatatggacgaccaaattttttattaagatgagtaaatatttgaaccactgaat c.*960
. . . . . . g.268821
tttaataacaaaattttaaaattggcatgaatacggaatactgcactgtgagatgcaaag c.*1020
. . . . . . g.268881
tatacagaatctgtggctgggagaaaatttcatcaaatagacaagtaaaaggctcatcag c.*1080
. . . . . . g.268941
ttttagcatctctgctccccagaaaattgtaagcatcctcaccagcctgtggatacattc c.*1140
. . . . . . g.269001
tttatttctagtgacccaatatgcatattaacctgctataactagggctatatgtgtagg c.*1200
. . . . . . g.269061
tatgtgtatacatatacacaaatgcacatatagagttaacacatttagtgaacacttgtt c.*1260
. . . . . . g.269121
tagtgtcactcagtttgctaggtgctgatatgtacgtatatctcaatgtgtctgtagact c.*1320
. . . . . . g.269181
tagatacatcctcttgaagcacatccatttctttagcgtctctcagtaagttacagtact c.*1380
. . . . . . g.269241
tgtttgacttaggtttaagaggcccagctacctatctctgaccttttcaaataggctcat c.*1440
. . . . . . g.269301
ttgggagattcttttgccaggagagattcaactttccaatctaagtattccagagcattg c.*1500
. . . . . . g.269361
cccaggcagagttggtttgatgtggccagatgttttgagttatttcccttaagtgtttca c.*1560
. . . . . . g.269421
ctggggagagaacagggagtgctcctccagcttcccaaagaaatatgtttttgtaagtgg c.*1620
. . . . . . g.269481
taggaacatgtgcacacaatagaacatgaaataagttttttaacttgtaaaacatgtcaa c.*1680
. . . . . . g.269541
gatttttccaccaagctagaaaataaaaaacttagttctaccacatccaattaacttaca c.*1740
. . . . . . g.269601
cacccccttccctgtctcaacacctgctttgaccctgcttttctattattacatcagtca c.*1800
. . . . . . g.269661
gcatcttgtggtccctaacatgaggatgtggctggctcgtgggaaacagcaaaacactaa c.*1860
. . . . . . g.269721
gcctgacctctcccaaattgggaagaccagaggagaaagtgcaaaactgtccccatttgg c.*1920
. . . . . . g.269781
aatgcccattccttctagaaaccagttggacagtgctcctctgcccttcataaacagact c.*1980
. . . . . . g.269841
actgttgggtccctgattccaggctggcctgtgaaggattgccccaggtgtcccctttca c.*2040
. . . . . . g.269901
cggttgtcacatttacagtgacttctgttgaacacccctcttagggatgtttcttttgct c.*2100
. . . . . . g.269961
cttatttcctgcatctttccttaagggaagccccatcctctcccaggaccaggagtttat c.*2160
. . . . . . g.270021
gaccaggcgagcacaaatggctaaaagccaagctgtcctagaacttcagtgggagagctg c.*2220
. . . . . . g.270081
tctggttcatattctacccaggaatggtacttttcagtgcagccaggagggctcttggga c.*2280
. . . . . . g.270141
tttcctttccaaagcacaaaaatactgggacccaagaagaacagctagaggacaactctg c.*2340
. . . . . . g.270201
ttggcacagagacggggacagcccagtctgctgacctcacagggtcagctgggcccccct c.*2400
. . . . . . g.270261
ggtgcttcaccacctgcatcctcttgctcagaatgcctttgcagttgagttttctgggtt c.*2460
. . . . . . g.270321
tctatgattgaccttgaggtttactccttgctcttacaacatttctaaggatttttaaaa c.*2520
. . . . . . g.270381
gtttacttcttgtcttgttcttctaaagctttctccaggacagatattttccctgtctta c.*2580
. . . . . . g.270441
accactggtccagtcatcccagtgggcttctctttgtctctcccagattagacctttggg c.*2640
. . . . . . g.270501
tgagattggcatcacaacatctaatctgagtctgtcttttgtccttcattctgtatggca c.*2700
. . . . . . g.270561
gtctccctttgttataaaagctttctaaagcatactaaagaagccttcccagagccccgt c.*2760
. . . . . . g.270621
cttgcttctcttccaggtgctctatcccctcgagaccctctggtgccaggcttgcttcac c.*2820
. . . . . . g.270681
ggccatcttgtgttgtcactgcagagtttggaggccagttttccacagcctaaacaggga c.*2880
. . . . . . g.270741
ggagctgcagaatggggctctggtctctgggcattcatttccctcatagaggctgagaat c.*2940
. . . . . . g.270801
aaaacaaggacttattcacacatgttctagaaccccagaatggcccaagttacctgagac c.*3000
. . . . . . g.270861
cagggtttctcaaccttgacaccattgacattttggactgggtaattctttgttctgcag c.*3060
. . . . . . g.270921
agctgtcctttgcactgtaggagatttactaatatccctggcctctacccagtagtacca c.*3120
. . . . . . g.270981
ctagcacctattccccacccagcgtgtctccagatattgtcaaatatcccatcgggtgca c.*3180
. . . . . . g.271041
aaatgatccctggtcaagatctgttgcccaagatgttacaggtcacaatgaccacatttg c.*3240
. . . . . . g.271101
aaattgttttccctttcattttaccctgtgaaagcatctctcctagagccttgcaagagg c.*3300
. . . . . . g.271161
caggtgacattgtgtccatatttcttcctgtttcagaacttctgtttcacaacaatttct c.*3360
. . . . . . g.271221
ctctcgctacaagtattctttcactcagcactggggaagttgggaacagctggtcaccat c.*3420
. . . . . . g.271281
catccctttaatcaactcacacctgtttaaagagtgtttctgatttgaccttcatccctt c.*3480
. . . . . . g.271341
agtttactggcgttaaaaaaagtctcagcaattttcattatttctcgtgggtctcattat c.*3540
. . . . . . g.271401
caaacctttacttatttcggcatatttcctctgggcttcttctagtttctgccttacaag c.*3600
. . . . . . g.271461
caatgctgttctgtaaatttattgaaacctctggaacatttcacctttagagatggagga c.*3660
. . . . . . g.271521
tggaaggattggtaccagaagagggctaagatacgttttctgtcttgagctgaaagcaca c.*3720
. . . . . . g.271581
gtctactctccttcgttttgtcgatgagaaagttgaggccagaggggaggtgacatgttt c.*3780
. . . . . . g.271641
agagtcacccagctggttagtgacagaaaaagcgtgagagttgtctaggattcctgccac c.*3840
. . . . . . g.271701
tttggtccctggcctctcctgggggaggctgctgttcttaggtgctctaagcttaatccc c.*3900
. . . . . . g.271761
tcagaatgtgtggacaggtcagcttagaagagatggggagattcaggatccccctgtgcc c.*3960
. . . . . . g.271821
agagcacagcctcaccggatgctgcttcccacactgaagtgtcctgtccgaccattgcta c.*4020
. . . . . . g.271881
tctgaggcatccacaagcaggtaggaaagctggcgagccattttacttcctgaggacaat c.*4080
. . . . . . g.271941
tccccagccacaggctctgagtcaaatttctatttggtaagcatcctagcagcaaagtcc c.*4140
. . . . . . g.272001
tgcactcagaccagccaaaaaacagcccccattccaagtacttggtgtcaaaagtccccg c.*4200
. . . . . . g.272061
aacgacttttaaacccaagtcttcttaaggtttcagtactgtggtggctttagcagttgt c.*4260
. . . . . . g.272121
ttttgtgcaactataaattatttaaatcatctgagatgacagtcaattttacaaaccagg c.*4320
. . . . . . g.272181
tacatattaatttgtataattttgtatatgctctggtacactacctgaactaacgaaggg c.*4380
. . . . . . g.272241
tagaactaattctgtttgtcagtgttcacacctgtaacattaggaggatatgtctgcatt c.*4440
. . . . . . g.272301
gcttatttctttatgttggtgtttctgtggcaaagccctgcacatggcatttctgaaaag c.*4500
. . . . . . g.272361
ccttaaatctttaagatgttgcatgtagggtatgcagtgcaaaaggctgcctcagaactg c.*4560
. . . . . . g.272421
tgagcccttttgtaagctggaagcatttctcttactactgttacttttgtaggaagtttt c.*4620
. . . . . . g.272481
caattcagagctgccaaagtgttcccgtaagcagtgccttagtaataccttagtcatgcc c.*4680
. . . . . . g.272541
gccagccttttcttacaccaattcctaatgttcatttacgaattggcccaatattggaaa c.*4740
. . . . . . g.272601
caaaacaagcaaaaattgtcttcatttttgttttgtaagcccattttttctccagttcta c.*4800
. . . . . . g.272661
taggaaactgactgcttggtgtaaaatccgaaactggacacaagtcagttctttcaccac c.*4860
. . . . . . g.272721
actcaaatgtatataccaaaacaaaaggttgcaacttcatagtttactatgaaaagcaaa c.*4920
. . . . . . g.272781
ttgtactttttaatgttgccttttaaattcatgaccaaatacttagctatttgtgaatct c.*4980
. . . . . . g.272841
tctgcactctagcatgaaagtgcctttggtttgagattccagcttagaaaagtgctgcca c.*5040
. . . . . . g.272901
taataacgataatttgtagagagaccaaaaatattttgagatcaccgtaatgcctttggt c.*5100
. . . . . . g.272961
ttaccgggatgagtaaccaaccacaggcctctgttcacaagagcacgacgtggtccccgc c.*5160
. . . . . . g.273021
ctgctgctagtctgtctgccactgggggcctcccaacatccatagcacacttcagcggaa c.*5220
. . . . . . g.273081
ggaccccagaaactgttgtgtttgtgtgtgctgatgacctagtgtgtcatttcacctcgt c.*5280
. . . . . . g.273141
cacccagccctgcgtccggatgaggggacttctgcacaaatgacagaatctcggctggtg c.*5340
. . . . . . g.273201
gacagatactacagctttctcctcctccttgtgttcgtgttcagtctctgtggagacttt c.*5400
. . . . . . g.273261
cttttccattcaaatgacagtgcgcacttatctggtttacacaatgataccattttgaaa c.*5460
. . . . . . g.273321
gttggaagcctcaaactgagacgacagtgcagaacaaaacaaaagtgagttagggtcgtt c.*5520
. . . . . . g.273381
aaaattgaagtgttcttcttagggcaaacatgttgactccgagtattgtgtatgaatgtg c.*5580
. . . . . . g.273441
ctacgagaaacttccaaagagcaccattcacaatttggcattttcaaagaatgttccagc c.*5640
. . . . . . g.273501
cctcaaaggggcaactctttaaagtccttgttggcttttatccaaaccttgtagaaattg c.*5700
. . . . . . g.273561
ggaaagctgatagaggtaaggaagacgagtgaaaaggacaagaaggccaaacaccagcca c.*5760
. . . . . . g.273621
aaaagaaactaggaaaaaaagattttctttgctaatatagatgtaaaaataacatcagac c.*5820
. . . . . . g.273681
atctttgaaaattagcctctaaactcttaatacatacgttctgtgtgtctctacctggcg c.*5880
. . . . . . g.273741
tctttaagaatatcctctctgggctctgaaattttaggagtgattcttatccactccaag c.*5940
. . . . . . g.273801
ttgtaagtatttgtagaaatttgtgcaaacaaacaaaaactatcaaatgaaaagaaaatg c.*6000
. . . . . . g.273861
tactcaacctaacttatagttagcagctggaattctcaactcttccctgccagcactata c.*6060
. . . . . . g.273921
ccacagtgtggaagaaattagtcaaatgcttgttttcctgcttctcttttcaactgttac c.*6120
. . . . . . g.273981
tgtgctttgtttgaaagtagttttctctctcaaagccgttgcttatatcgttaagaatga c.*6180
. . . . . . g.274041
aggtttgtgtttaaaatttattgcattgcaaagggtagtttcactgaagtcatgcaccat c.*6240
. . . . . . g.274101
taaataagatgaaatatttgtatttattgtcctacttcctaagccgtaacttcttttcct c.*6300
. . . . . . g.274161
ctgtgaatttgcattgagtcactcatgctacactacatcgctttagtatttgagatggca c.*6360
. . . . . . g.274221
tttatgtttcctctcgtttatcatgaaatggggtcagattccatcagattccacctctgt c.*6420
. . . . . . g.274281
caggtggactcttgtctgccttccatgatgagattttttttctccttcccctttctttaa c.*6480
. . . . . . g.274341
gagaggctgacagatctaggtgtcaatcaattggaaaccagtctctgattttttttcatt c.*6540
. . . . . . g.274401
agttattttctatcattagtttcactgtgtaaattagatatcaactgcacttctttaaaa c.*6600
. . . . . . g.274461
aaaaatacatctccctattacctccttgaaagatttacttctgtaggcctttttcaatag c.*6660
. . . . . . g.274521
gctcatgactgcagacaaggaaaaaaaaagtaaaaacaaaaacagtatgtgcctgaaaat c.*6720
. . . . . . g.274581
gacaaaaaaaaaatttgtaacatttaaaaaagaaacctgaatagcctttaattctttaat c.*6780
. . . . . . g.274641
aatacacttaaattttatgtaaatcggttttcgccacgtgtgtttgttcacattctaaat c.*6840
. . . . . . g.274701
gacttaatgggattctcacggtctgtgtctttgtgtcacgtgtataaaatgggcttgtga c.*6900
. . . . . . g.274761
tgtaagcgtttcatctggtcagtggttcctttgatattgtactgctgctgggagtgggct c.*6960
. . . . . . g.274821
gtggaacctgccttcgggtaactgggttcctcttgggtagattggagagatgggggtggg c.*7020
. . . . . . g.274881
cgtgggcaaattctcacacatgttttcttaacctatttgcagaaactttcaaaaggcatt c.*7080
. . . . . . g.274941
tgattaaacctcttggcagtacagtattcttgtatttgttaacgtctgtgtttaggtact c.*7140
. . . . . . g.275001
ggtacctttttgttttaaaatgttctaagtgttggctttaaagtgaatttatctttagta c.*7200
. . . . . . g.275061
tgatagttatatgaaaattataggatttgtgtgcagagaatttttttataaagtgctttg c.*7260
. . . . . . g.275121
taaaaaaaaaaaaatgtattctagcttttgcggtacatatgtgtgataactttaataccc c.*7320
. . . . . . g.275181
atgacagttaagtgcaattatttcatcactctaaaaatgctatttttgtgtcagttcctg c.*7380
. . . . . . g.275241
caggtgttttcatgtctttgcaaagtgacacattttgatgccttcttgataaagtggtag c.*7440
. . . . . . g.275301
acattttgtagctttctagaaactttgtattcatacggtatcaatgaaaaataaagaaaa c.*7500
. g.275316
tgaaagtgtgggtca c.*7515
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 25b
©2004-2020 Leiden University Medical Center