(used for variant description)
(last modified April 11, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_001105.4 in the ACVR1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008004.1, covering ACVR1 transcript NM_001105.4.
(upstream sequence)
. g.5010
gaagagatgt c.-421
. . . . . . g.5070
gggcctctggggccgctggattcagtaacttccgtcgggttctagactggctcggctctg c.-361
. . . . . . g.5130
tccagtttgtgccagatagtctcccaccccctccccacccctcctttcccctggagattt c.-301
. . . . . . g.5190
gaacgctgcttgcatgggagaaaagctacttagagaagaaaacgttccacttagtaacag c.-241
. . . . . . | 02 g.61554
aagaaaagtcttggttaaaaagttgtcatgaatttggcttttggagagaggcagcaag | cc c.-181
. . . . . . g.61614
tggagcattggtaagcgtcacactgccaaagtgagagctgctggagaactcataatccca c.-121
. . . . . . g.61674
ggaacgcctcttctactctccgagtaccccagtgaccagagtgagagaagctctgaacga c.-61
. . . . . . | 03 g.80618
gggcacgcggcttgaaggactgtgggcagatgtgaccaagagcctgcattaag | ttgtaca c.-1
. . . . . . g.80678
ATGGTAGATGGAGTGATGATTCTTCCTGTGCTTATCATGATTGCTCTCCCCTCCCCTAGT c.60
M V D G V M I L P V L I M I A L P S P S p.20
| 04. . . . . . g.99564
ATGGAAG | ATGAGAAGCCCAAGGTCAACCCCAAACTCTACATGTGTGTGTGTGAAGGTCTC c.120
M E D | E K P K V N P K L Y M C V C E G L p.40
. . . . . . g.99624
TCCTGCGGTAATGAGGACCACTGTGAAGGCCAGCAGTGCTTTTCCTCACTGAGCATCAAC c.180
S C G N E D H C E G Q Q C F S S L S I N p.60
. . . . . . g.99684
GATGGCTTCCACGTCTACCAGAAAGGCTGCTTCCAGGTTTATGAGCAGGGAAAGATGACC c.240
D G F H V Y Q K G C F Q V Y E Q G K M T p.80
. . . . . . g.99744
TGTAAGACCCCGCCGTCCCCTGGCCAAGCCGTGGAGTGCTGCCAAGGGGACTGGTGTAAC c.300
C K T P P S P G Q A V E C C Q G D W C N p.100
. . . | 05 . . . g.101798
AGGAACATCACGGCCCAGCTGCCCACTAAAG | GAAAATCCTTCCCTGGAACACAGAATTTC c.360
R N I T A Q L P T K G | K S F P G T Q N F p.120
. . . . . . g.101858
CACTTGGAGGTTGGCCTCATTATTCTCTCTGTAGTGTTCGCAGTATGTCTTTTAGCCTGC c.420
H L E V G L I I L S V V F A V C L L A C p.140
. . . . . . g.101918
CTGCTGGGAGTTGCTCTCCGAAAATTTAAAAGGCGCAACCAAGAACGCCTCAATCCCCGA c.480
L L G V A L R K F K R R N Q E R L N P R p.160
. . . . . . g.101978
GACGTGGAGTATGGCACTATCGAAGGGCTCATCACCACCAATGTTGGAGACAGCACTTTA c.540
D V E Y G T I E G L I T T N V G D S T L p.180
| 06 . . . . . . g.105981
GCA | GATTTATTGGATCATTCGTGTACATCAGGAAGTGGCTCTGGTCTTCCTTTTCTGGTA c.600
A | D L L D H S C T S G S G S G L P F L V p.200
. . . . | 07 . . g.109614
CAAAGAACAGTGGCTCGCCAGATTACACTGTTGGAGTGTGTCG | GGAAAGGCAGGTATGGT c.660
Q R T V A R Q I T L L E C V G | K G R Y G p.220
. . . . . . g.109674
GAGGTGTGGAGGGGCAGCTGGCAAGGGGAGAATGTTGCCGTGAAGATCTTCTCCTCCCGT c.720
E V W R G S W Q G E N V A V K I F S S R p.240
. . . . . . g.109734
GATGAGAAGTCATGGTTCAGGGAAACGGAATTGTACAACACTGTGATGCTGAGGCATGAA c.780
D E K S W F R E T E L Y N T V M L R H E p.260
. | 08 . . . . . g.113965
AATATCTTAG | GTTTCATTGCTTCAGACATGACATCAAGACACTCCAGTACCCAGCTGTGG c.840
N I L G | F I A S D M T S R H S S T Q L W p.280
. . . . . . g.114025
TTAATTACACATTATCATGAAATGGGATCGTTGTACGACTATCTTCAGCTTACTACTCTG c.900
L I T H Y H E M G S L Y D Y L Q L T T L p.300
. . . . . . g.114085
GATACAGTTAGCTGCCTTCGAATAGTGCTGTCCATAGCTAGTGGTCTTGCACATTTGCAC c.960
D T V S C L R I V L S I A S G L A H L H p.320
. . . . . . g.114145
ATAGAGATATTTGGGACCCAAGGGAAACCAGCCATTGCCCATCGAGATTTAAAGAGCAAA c.1020
I E I F G T Q G K P A I A H R D L K S K p.340
. . . . | 09 . . g.119048
AATATTCTGGTTAAGAAGAATGGACAGTGTTGCATAGCAGATTTGG | GCCTGGCAGTCATG c.1080
N I L V K K N G Q C C I A D L G | L A V M p.360
. . . . . . g.119108
CATTCCCAGAGCACCAATCAGCTTGATGTGGGGAACAATCCCCGTGTGGGCACCAAGCGC c.1140
H S Q S T N Q L D V G N N P R V G T K R p.380
. . . . . . g.119168
TACATGGCCCCCGAAGTTCTAGATGAAACCATCCAGGTGGATTGTTTCGATTCTTATAAA c.1200
Y M A P E V L D E T I Q V D C F D S Y K p.400
. . . . . . g.119228
AGGGTCGATATTTGGGCCTTTGGACTTGTTTTGTGGGAAGTGGCCAGGCGGATGGTGAGC c.1260
R V D I W A F G L V L W E V A R R M V S p.420
| 10 . . . . . . g.141597
AATG | GTATAGTGGAGGATTACAAGCCACCGTTCTACGATGTGGTTCCCAATGACCCAAGT c.1320
N G | I V E D Y K P P F Y D V V P N D P S p.440
. . . . . . g.141657
TTTGAAGATATGAGGAAGGTAGTCTGTGTGGATCAACAAAGGCCAAACATACCCAACAGA c.1380
F E D M R K V V C V D Q Q R P N I P N R p.460
. | 11 . . . . . g.142491
TGGTTCTCAGACCCG | ACATTAACCTCTCTGGCCAAGCTAATGAAAGAATGCTGGTATCAA c.1440
W F S D P | T L T S L A K L M K E C W Y Q p.480
. . . . . . g.142551
AATCCATCCGCAAGACTCACAGCACTGCGTATCAAAAAGACTTTGACCAAAATTGATAAT c.1500
N P S A R L T A L R I K K T L T K I D N p.500
. . . g.142581
TCCCTCGACAAATTGAAAACTGACTGTTGA c.1530
S L D K L K T D C X p.509
. . . . . . g.142641
cattttcatagtgtcaagaaggaagatttgacgttgttgtcattgtccagctgggaccta c.*60
. . . . . . g.142701
atgctggcctgactggttgtcagaatggaatccatctgtctccctccccaaatggctgct c.*120
. . . . . . g.142761
ttgacaaggcagacgtcgtacccagccatgtgttggggagacatcaaaaccaccctaacc c.*180
. . . . . . g.142821
tcgctcgatgactgtgaactgggcatttcacgaactgttcacactgcagagactaatgtt c.*240
. . . . . . g.142881
ggacagacactgttgcaaaggtagggactggaggaacacagagaaatcctaaaagagatc c.*300
. . . . . . g.142941
tgggcattaagtcagtggctttgcatagctttcacaagtctcctagacactccccacggg c.*360
. . . . . . g.143001
aaactcaaggaggtggtgaatttttaatcagcaatattgcctgtgcttctcttctttatt c.*420
. . . . . . g.143061
gcactaggaattctttgcattccttacttgcactgttactcttaattttaaagacccaac c.*480
. . . . . . g.143121
ttgccaaaatgttggctgcgtactccactggtctgtctttggataataggaattcaattt c.*540
. . . . . . g.143181
ggcaaaacaaaatgtaatgtcagactttgctgcattttacacatgtgctgatgtttacaa c.*600
. . . . . . g.143241
tgatgccgaacattaggaattgtttatacacaactttgcaaattatttattacttgtgca c.*660
. . . . . . g.143301
cttagtagtttttacaaaactgctttgtgcatatgttaaagcttatttttatgtggtctt c.*720
. . . . . . g.143361
atgattttattacagaaatgtttttaacactatactctaaaatggacattttcttttatt c.*780
. . . . . . g.143421
atcagttaaaatcacattttaagtgcttcacatttgtatgtgtgtagactgtaacttttt c.*840
. . . . . . g.143481
ttcagttcatatgcagaacgtatttagccattacccacgtgacaccaccgaatatattac c.*900
. . . . . . g.143541
tgatttagaagcaaagatttcagtagaattttagtcctgaacgctacggggaaaatgcat c.*960
. . . . . . g.143601
tttcttcagaattatccattacgtgcatttaaactctgccagaaaaaaataactattttg c.*1020
. . . . . . g.143661
ttttaatctactttttgtatttagtagttatttgtataaattaaataaactgttttcaag c.*1080
g.143666
tcaaa c.*1085
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 18
©2004-2017 Leiden University Medical Center