(used for variant description)
(last modified February 8, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_020429.2 in the SMURF1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering SMURF1 transcript NM_020429.2.
(upstream sequence)
. . . . g.5040
gcgcggctcggagaggcggcggcagcggcggaagcggcga c.-301
. . . . . . g.5100
gggcggcgggcgtccggctctgaggtggtggaggcggcggaggcggcggcggaggcggcg c.-241
. . . . . . g.5160
gcggctcgggactgggctcggctggaagcagcgagggtcagagcgccgcagcaagcgccg c.-181
. . . . . . g.5220
atctcccggctcgaccatccgcctgccgcccggacgcctgggccgcggagtttgtgtccc c.-121
. . . . . . g.5280
ggctcggaccccggcgcccagcccggagccgtaaccttgaggcggcggcggcggggccgg c.-61
. . . . . . g.5340
gccgggccgggctggggggcggtggcgctggatccgcggctgcccgatcgttggcgggag c.-1
. . . . . | 02 . g.87288
ATGTCGAACCCCGGGACACGCAGGAACGGCTCCAGCATCAAGATCCGTCTGACAG | TGTTA c.60
M S N P G T R R N G S S I K I R L T V | L p.20
. . . | 03 . . . g.88439
TGTGCCAAGAACCTTGCAAAGAAAGACTTCTTCA | GGCTCCCTGACCCTTTTGCAAAGATT c.120
C A K N L A K K D F F R | L P D P F A K I p.40
. . . . . . g.88499
GTCGTGGATGGGTCTGGGCAGTGCCACTCAACCGACACTGTGAAAAACACATTGGACCCA c.180
V V D G S G Q C H S T D T V K N T L D P p.60
. . | 04 . . . . g.91606
AAGTGGAACCAGCACTATGATCT | ATATGTTGGGAAAACGGATTCGATAACCATTAGCGTG c.240
K W N Q H Y D L | Y V G K T D S I T I S V p.80
. . . . . . g.91666
TGGAACCATAAGAAAATTCACAAGAAACAGGGAGCTGGCTTCCTGGGCTGTGTGCGGCTG c.300
W N H K K I H K K Q G A G F L G C V R L p.100
. . . | 05. . . g.91873
CTCTCCAATGCCATCAGCAGATTAAAAGATACCGGAT | ACCAGCGTTTGGATCTATGCAAA c.360
L S N A I S R L K D T G Y | Q R L D L C K p.120
. . . . | 06 . . g.94272
CTAAACCCCTCAGATACTGATGCAGTTCGTGGCCAGATAGTGG | TCAGTTTACAGACACGA c.420
L N P S D T D A V R G Q I V V | S L Q T R p.140
. . . . . | 07 g.96675
GACAGAATAGGAACCGGCGGCTCGGTGGTGGACTGCAGAGGACTGTTAGAAAATGAAGG | A c.480
D R I G T G G S V V D C R G L L E N E G | p.160
. . . . . . g.96735
ACGGTGTATGAAGACTCCGGGCCTGGGAGGCCGCTCAGCTGCTTCATGGAGGAACCAGCC c.540
T V Y E D S G P G R P L S C F M E E P A p.180
. . . . . . g.96795
CCTTACACAGATAGCACCGGTGCTGCTGCTGGAGGAGGGAATTGCAGGTTCGTGGAGTCC c.600
P Y T D S T G A A A G G G N C R F V E S p.200
. . . . . . g.96855
CCAAGTCAAGATCAAAGACTTCAGGCACAGCGGCTTCGAAACCCTGATGTGCGAGGTTCA c.660
P S Q D Q R L Q A Q R L R N P D V R G S p.220
. . . . . . g.96915
CTACAGACGCCCCAGAACCGACCACACGGCCACCAGTCCCCGGAACTGCCCGAAGGCTAC c.720
L Q T P Q N R P H G H Q S P E L P E G Y p.240
| 08 . . . . . . g.97738
G | AACAAAGAACAACAGTCCAGGGCCAAGTTTACTTTTTGCATACACAGACTGGAGTTAGC c.780
E | Q R T T V Q G Q V Y F L H T Q T G V S p.260
. . | 09 . . . . g.98162
ACGTGGCACGACCCCAGGATACCAAG | TCCCTCGGGGACCATTCCTGGGGGAGATGCAGCT c.840
T W H D P R I P S | P S G T I P G G D A A p.280
. . . . | 10 . . g.99427
TTTCTATACGAATTCCTTCTACAAGGCCATACATCTGAGCCCAG | AGACCTTAACAGTGTG c.900
F L Y E F L L Q G H T S E P R | D L N S V p.300
. . . . . . g.99487
AACTGTGATGAACTTGGACCACTGCCGCCAGGCTGGGAAGTCAGAAGTACAGTTTCTGGG c.960
N C D E L G P L P P G W E V R S T V S G p.320
. . . . . . g.99547
AGGATATATTTTGTAGATCATAATAACCGAACAACCCAGTTTACAGACCCAAGGTTACAC c.1020
R I Y F V D H N N R T T Q F T D P R L H p.340
. | 11 . . . . . g.101287
CACATCATGAA | TCACCAGTGCCAACTCAAGGAGCCCAGCCAGCCGCTGCCACTGCCCAGT c.1080
H I M N | H Q C Q L K E P S Q P L P L P S p.360
. . . . . . g.101347
GAGGGCTCTCTGGAGGACGAGGAGCTTCCTGCCCAGAGATACGAAAGAGATCTAGTCCAG c.1140
E G S L E D E E L P A Q R Y E R D L V Q p.380
. . . . . . g.101407
AAGCTGAAAGTCCTCAGACACGAACTGTCGCTTCAGCAGCCCCAAGCTGGTCATTGCCGC c.1200
K L K V L R H E L S L Q Q P Q A G H C R p.400
. . . | 12 . . . g.103349
ATCGAAGTGTCCAGAGAAGAAATCTTTGAG | GAGTCTTACCGCCAGATAATGAAGATGCGA c.1260
I E V S R E E I F E | E S Y R Q I M K M R p.420
. . . . . . g.103409
CCGAAAGACTTGAAAAAACGGCTGATGGTGAAATTCCGTGGGGAAGAAGGTTTGGATTAC c.1320
P K D L K K R L M V K F R G E E G L D Y p.440
. | 13 . . . . . g.106934
GGTGGTGTGGCCAG | GGAGTGGCTTTACTTGCTGTGCCATGAAATGCTGAATCCTTATTAC c.1380
G G V A R | E W L Y L L C H E M L N P Y Y p.460
. . . . . . g.106994
GGGCTCTTCCAGTATTCTACGGACAATATTTACATGTTGCAAATAAATCCGGATTCTTCA c.1440
G L F Q Y S T D N I Y M L Q I N P D S S p.480
| 14 . . . . . g.108615
ATCAACCCC | GACCACTTGTCTTATTTCCACTTTGTGGGGCGGATCATGGGGCTGGCTGTG c.1500
I N P | D H L S Y F H F V G R I M G L A V p.500
. . . . . . g.108675
TTCCATGGACACTACATCAACGGGGGCTTCACAGTGCCCTTCTACAAGCAGCTGCTGGGG c.1560
F H G H Y I N G G F T V P F Y K Q L L G p.520
. . . . . . g.108735
AAGCCCATCCAGCTCTCAGATCTGGAATCTGTGGACCCAGAGCTGCATAAGAGCTTGGTG c.1620
K P I Q L S D L E S V D P E L H K S L V p.540
| 15 . . . . . g.110647
TGGATCCT | AGAGAACGACATCACGCCTGTACTGGACCACACCTTCTGCGTGGAACACAAC c.1680
W I L | E N D I T P V L D H T F C V E H N p.560
. . . . . . g.110707
GCCTTCGGGCGGATCCTGCAGCATGAACTGAAACCCAATGGCAGAAATGTGCCAGTCACA c.1740
A F G R I L Q H E L K P N G R N V P V T p.580
. . | 16 . . . . g.111967
GAGGAGAATAAGAAAGAATACGTCCG | GTTGTATGTAAACTGGAGGTTTATGAGAGGAATC c.1800
E E N K K E Y V R | L Y V N W R F M R G I p.600
. . . . . . g.112027
GAAGCCCAGTTCTTAGCTCTGCAGAAGGGGTTCAATGAGCTCATCCCTCAACATCTGCTG c.1860
E A Q F L A L Q K G F N E L I P Q H L L p.620
. . | 17. . . . g.113437
AAGCCTTTTGACCAGAAGGAACTGGAG | CTGATCATAGGCGGCCTGGATAAAATAGACTTG c.1920
K P F D Q K E L E | L I I G G L D K I D L p.640
. . . . . . g.113497
AACGACTGGAAGTCGAACACGCGGCTGAAGCACTGTGTGGCCGACAGCAACATCGTGCGG c.1980
N D W K S N T R L K H C V A D S N I V R p.660
. . . . . . g.113557
TGGTTCTGGCAAGCGGTGGAGACGTTCGATGAAGAAAGGAGGGCCAGGCTCCTGCAGTTT c.2040
W F W Q A V E T F D E E R R A R L L Q F p.680
. . . . | 18 . g.116010
GTGACTGGGTCCACGCGAGTCCCGCTCCAAGGCTTCAAGGCTTTGCAAG | GTTCTACAGGC c.2100
V T G S T R V P L Q G F K A L Q G | S T G p.700
. . . . . . g.116070
GCGGCAGGGCCCCGGCTGTTCACCATCCACCTGATAGACGCGAACACAGACAACCTTCCG c.2160
A A G P R L F T I H L I D A N T D N L P p.720
. | 19 . . . . . g.118483
AAGGCCCATACCTG | CTTTAACCGGATCGACATTCCACCATATGAGTCCTATGAGAAGCTC c.2220
K A H T C | F N R I D I P P Y E S Y E K L p.740
. . . . . g.118537
TACGAGAAGCTGCTGACAGCCGTGGAGGAGACCTGCGGGTTTGCTGTGGAGTGA c.2274
Y E K L L T A V E E T C G F A V E X p.757
. . . . . . g.118597
aaagcaaccaaaggcaacagagtctagctcatggccaccagaccaaaagcatccagcttc c.*60
. . . . . . g.118657
tgtgcacctcctgcaaagctggcagaggccctggaattccagatcacctgaggggaaagg c.*120
. . . . . . g.118717
gttgtctctctcctttctgttgggggagggggatgggggacttttgttggtggctcccac c.*180
. . . . . . g.118777
ccatatatccctcctttaccatagtactcccacccacttccatcacccatccaataaaat c.*240
. . . . . . g.118837
gcagccaggtttagcctttggctttggtcacacaggatattctgctgtgttgcaacccat c.*300
. . . . . . g.118897
gtggtgataaggctcacagccctgagctctttacgggagcatcaactcacagttagggga c.*360
. . . . . . g.118957
ctgggcgtggctgattgagggtttggaactggtggctatgccagctattccatctcaaaa c.*420
. . . . . . g.119017
cagccttgaggccccttttcaatttgagcagctgctagatatcttatcagagctcagatt c.*480
. . . . . . g.119077
ccagatttcacatcccagcagccggttctgggtagcagatcaatttccaactggaaaata c.*540
. . . . . . g.119137
actatataatgtatgcttattggaattctgccacagcaggaagcttgagtcaaaatgtgt c.*600
. . . . . . g.119197
ttcccctttgaaaggagaaggaattggagcagcttttcctggaggcccaggatatttctt c.*660
. . . . . . g.119257
ttctgggtatcttggctgaaaattttgttttacatagagaaaaacgatcttttaagggtc c.*720
. . . . . . g.119317
ccttttgctgcattatctgtccagtttgacttttttttcagtgaaaacaccatgtcatgg c.*780
. . . . . . g.119377
agtgtaggaaagagcagaccaaaatcagccctagagccaaccagtcagtcccaaagctgt c.*840
. . . . . . g.119437
gacctctgtgccactgttgtccatagaagagcatcgactgtgtcacttaaaatattagta c.*900
. . . . . . g.119497
aaccatgatgcagcaactgctaagagctaaactaacaaaattgtgtcatcatagctgctg c.*960
. . . . . . g.119557
gcttggtgtgaactcgcttaaaagcaatggtgaaaggataacctcgatgatgtaaatcca c.*1020
. . . . . . g.119617
cccaaagatactgttctacaaaaagtagggtgtggacgcaaacctgtgacagcagagggg c.*1080
. . . . . . g.119677
gacgacttcacactcactgcctcatgtggcccctttcccagtggcagctggtgacactaa c.*1140
. . . . . . g.119737
cgattgctactcggttcacttgcccagatgtcttcatatgatgagcaaggccagaagcaa c.*1200
. . . . . . g.119797
ggctagattcgaagtttctgacaccatttccagtttgcacaaaagtcagtattttatctt c.*1260
. . . . . . g.119857
aaagtggcttgatttccaatagctgaacttgggcagaaaacagcaggccaatgttcctat c.*1320
. . . . . . g.119917
gtggtttctttgttgttgtttttgtttggggtgggggcaagtacagggtaattcatgagc c.*1380
. . . . . . g.119977
aagacatttcactgctgtcgaagtctctgggatcccgctgtgggtctgagatggcctggg c.*1440
. . . . . . g.120037
aaggaccttgtggacaatggttttatctgttctttttgtcactgttaatttctgggctgc c.*1500
. . . . . . g.120097
tgaggttctagaatagaagggctgccaaatgaggtttgctgcaggaggaaagtttaatcc c.*1560
. . . . . . g.120157
cccattccaaaagtccaggccaaatggtgggcttagcctctttgaaaagttctgccttgc c.*1620
. . . . . . g.120217
ccccacaggtgggcacatcctgtgtctcattcaccatgatgcttcctgagggtgttctag c.*1680
. . . . . . g.120277
aagcccgttccccagtggctgtatccagcctttccttgcatcatcttcctcttgaaggtg c.*1740
. . . . . . g.120337
aggaagtgaaaactacagacctcccccggacagcccactctctatcacgagcctaacccg c.*1800
. . . . . . g.120397
cgggaggcggaagagacatccattcgagaactgaagcggcctccgggatgaggtcagagg c.*1860
. . . . . . g.120457
ccccacctgattttcctggtggtggtatccaaaatcttcagtaactaggaaggaaaccag c.*1920
. . . . . . g.120517
ggtctcatggtttaaaagactttgaagcaggaatgttgcatttgacgcctttaaaactac c.*1980
. . . . . . g.120577
ctttttgctgttgggaggagtcgggggcgagccttagcagctgcaccgccatccccatgc c.*2040
. . . . . . g.120637
tggttggtgctgccctgcctctcgtgccgggtgttgcttcagcccagagccagagggctg c.*2100
. . . . . . g.120697
ggtcccgggtcctccacaggtgaccccggtggacacacgcgttcccatcctggcctccgt c.*2160
. . . . . . g.120757
ctctgcttttccacttctacctgcgtgtgggtttgccgccttgtcatcggttgtgtgagt c.*2220
. . . . . . g.120817
gtcgcagacctttccagagctccggttcactctttccaaacaggcctccctgtcggtggc c.*2280
. . . . . . g.120877
actgcactcctagaaccttcagtttctacgatggtttgtttggtccttttgaaccacccc c.*2340
. . . . . . g.120937
aaagaactcaacatggcaaagcaaatggtaaaagcttcccgactgttctactttgggtcc c.*2400
. . . . . . g.120997
gcgcgaagcccactcacgtgtgatctgtgttgcccctctcggtggtcccaggcgatccag c.*2460
. . . . . . g.121057
ccatgccccctgcccctctgcccagatgcttcaggggcccggcttttcaggcttgccctc c.*2520
. . . . . . g.121117
accagcggccgtcagccgacactcagggatgtagctaacaccactccgccagtgctttca c.*2580
. . . . . . g.121177
gtaggaagagctgaggctgcctgggaggcccggggcgaccggaaaagggctctctcaagt c.*2640
. . . . . . g.121237
tctgaaaagagaatctgccaccagatcgaatttcgacccctgagcttgttcggacgtatg c.*2700
. . . . . . g.121297
gtccaaattcagattaaggtggtcacccaacccgagatgtcaggaaaggccttctgcaga c.*2760
. . . . . . g.121357
gaaaatgtccccccacccgccatctgcagccaggtgtgtgccacacggcagccttcccga c.*2820
. . . . . . g.121417
aacatagtatggattttaaaaatgtgtttatttttgtttctcaaccactttataacgtat c.*2880
. . . . . . g.121477
tttttaatttattttgtaatgtcttgttttgaagtattgctgctatccttgttatccttc c.*2940
. . . . . . g.121537
ccactgtttttatcactgatttattttgtgaaagttgtacactaatgttctatgtcaaaa c.*3000
. . . . . . g.121597
tcaaaagtatttaatgaaatactagttctatttaatgtggttatggaaccagctggaaac c.*3060
. . . . . . g.121657
acaaaacaaacagtgattgtacagcaggctgggcccaggaggtcaggttcattttgttac c.*3120
. . g.121686
atatgcaataaactcacgactttacattt c.*3149
(downstream sequence)
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