(used for variant description)
(last modified July 17, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_003169.3 in the SUPT5H gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering SUPT5H transcript NM_003169.3.
(upstream sequence)
g.5105
gtg c.-241
. . . . . . g.5165
cagaggtggcagttccgggcgccggggaggtgtagagaacagattcggaaactggggagg c.-181
. . . . . . g.5225
tctagcatgtggcgtaggagggggtcctcactccgcttcgcgattgccaaaacgagcctg c.-121
. . . . . . g.5285
ccggaagcgccctaaggggttttcttctcccagggaaccagcggggaaactgaggctcgg c.-61
. . . . . . g.5345
ggtggagcgcaggattgtgggacgcgccaaggctgctgtctttcccagcagcagcggaag c.-1
. . . . . . g.5405
ATGTCGGACAGCGAGGACAGCAACTTTTCCGAGGAGGAGGACAGCGAGCGCAGCAGTGAC c.60
M S D S E D S N F S E E E D S E R S S D p.20
. | 02 . . . . . g.12855
GGCGAGGAGGCCGAG | GTAGACGAAGAGCGGCGGAGTGCAGCGGGCAGTGAGAAAGAAGAA c.120
G E E A E | V D E E R R S A A G S E K E E p.40
. . . . . . g.12915
GAGCCTGAGGACGAAGAGGAGGAGGAAGAGGAGGAGGAATACGATGAGGAAGAGGAGGAA c.180
E P E D E E E E E E E E E Y D E E E E E p.60
. . . . . . g.12975
GAAGATGATGACCGACCCCCCAAGAAACCCCGCCATGGAGGCTTCATTCTGGACGAGGCT c.240
E D D D R P P K K P R H G G F I L D E A p.80
| 03 . . . . . . g.17188
G | ATGTTGACGATGAGTATGAGGACGAGGACCAGTGGGAGGATGGAGCAGAGGACATTCTA c.300
D | V D D E Y E D E D Q W E D G A E D I L p.100
| 04. | 05 . . . . g.18313
GAGAAAG | AAGAGATTGAAG | CCTCCAATATCGATAATGTTGTCCTGGATGAAGATCGTTCT c.360
E K E | E I E A | S N I D N V V L D E D R S p.120
. . | 06 . . . g.18490
GGGGCTCGCCGCCTGCAAAACCTCTGGAG | GGACCAGCGAGAAGAAGAACTGGGCGAGTAT c.420
G A R R L Q N L W R | D Q R E E E L G E Y p.140
. . . | 07 . . g.18660
TACATGAAGAAATACGCCAAGTCATCTGTGGGAGAGAC | GGTGTATGGAGGATCTGATGAG c.480
Y M K K Y A K S S V G E T | V Y G G S D E p.160
. . . . | 08 . . g.19029
CTCTCAGACGACATCACCCAGCAGCAGCTGCTCCCAGGAGTCAA | GGATCCCAATCTGTGG c.540
L S D D I T Q Q Q L L P G V K | D P N L W p.180
. | 09 . . . . . g.19391
ACTGTCAAATGTAAG | ATTGGGGAGGAACGGGCCACGGCCATTTCCTTGATGCGCAAGTTC c.600
T V K C K | I G E E R A T A I S L M R K F p.200
. . | 10 . . . . g.24288
ATTGCCTACCAGTTCACAGACACG | CCCCTGCAGATCAAGTCAGTAGTGGCACCAGAGCAT c.660
I A Y Q F T D T | P L Q I K S V V A P E H p.220
. . . . . . g.24348
GTGAAGGGCTACATCTACGTGGAGGCCTACAAGCAGACCCACGTGAAGCAGGCCATTGAG c.720
V K G Y I Y V E A Y K Q T H V K Q A I E p.240
. . . . . . g.24408
GGGGTGGGCAACCTGCGGCTTGGCTACTGGAACCAGCAGATGGTGCCCATCAAGGAGATG c.780
G V G N L R L G Y W N Q Q M V P I K E M p.260
. . . . . . g.24468
ACAGACGTGCTCAAAGTGGTGAAGGAGGTGGCCAACCTGAAACCAAAGTCCTGGGTCCGC c.840
T D V L K V V K E V A N L K P K S W V R p.280
. . . | 11 . . . g.25958
CTCAAGCGGGGCATCTACAAGGATGACATTGCTCAG | GTGGACTACGTGGAGCCCAGCCAG c.900
L K R G I Y K D D I A Q | V D Y V E P S Q p.300
. . . . . . g.26018
AACACCATCTCCCTGAAGATGATCCCACGCATCGACTACGATCGCATCAAGGCCCGCATG c.960
N T I S L K M I P R I D Y D R I K A R M p.320
| 12 . . . . . . g.26183
AGCTTG | AAAGACTGGTTTGCCAAAAGGAAGAAGTTTAAGCGGCCTCCACAGAGGCTGTTT c.1020
S L | K D W F A K R K K F K R P P Q R L F p.340
. | 13. . . . . g.28253
GATGCTGAGAAGATCAG | GTCCCTGGGGGGTGATGTTGCCTCTGATGGTGACTTCCTCATC c.1080
D A E K I R | S L G G D V A S D G D F L I p.360
. . . . . . g.28313
TTTGAGGGGAACCGTTACAGCCGGAAGGGCTTTCTGTTCAAGAGCTTCGCCATGTCTGCT c.1140
F E G N R Y S R K G F L F K S F A M S A p.380
| 14 . . . . . . g.28590
GTG | ATCACGGAGGGTGTGAAGCCAACACTCTCTGAGCTGGAAAAGTTTGAGGACCAGCCA c.1200
V | I T E G V K P T L S E L E K F E D Q P p.400
. . . | 15. . . g.28739
GAGGGCATTGACCTGGAGGTGGTGACTGAGAGCACAG | GGAAGGAGCGGGAGCACAACTTC c.1260
E G I D L E V V T E S T G | K E R E H N F p.420
. . . . . . g.28799
CAACCTGGGGACAACGTGGAGGTCTGTGAGGGTGAGCTCATCAACCTGCAGGGCAAGATC c.1320
Q P G D N V E V C E G E L I N L Q G K I p.440
. . . . . | 16 . g.29579
CTCAGCGTGGATGGCAACAAGATCACCATCATGCCCAAGCATGAGGACCTCAAG | GACATG c.1380
L S V D G N K I T I M P K H E D L K | D M p.460
. . . . . . g.29639
TTGGAGTTCCCAGCCCAGGAACTTAGAAAATACTTCAAGATGGGGGACCACGTGAAGGTG c.1440
L E F P A Q E L R K Y F K M G D H V K V p.480
. . . . . . g.29699
ATTGCTGGCCGATTCGAGGGCGACACAGGCCTCATTGTGCGGGTGGAGGAGAATTTCGTT c.1500
I A G R F E G D T G L I V R V E E N F V p.500
. . . | 17 . . . g.29861
ATCCTGTTCTCTGACCTCACCATGCATGAG | CTGAAGGTGCTCCCCCGGGACCTGCAGCTC c.1560
I L F S D L T M H E | L K V L P R D L Q L p.520
. . . . . . g.29921
TGCTCAGAGACAGCATCAGGTGTGGATGTTGGGGGCCAGCATGAATGGGGCGAGCTGGTG c.1620
C S E T A S G V D V G G Q H E W G E L V p.540
. . . . . | 18. g.30814
CAGCTGGATCCCCAGACTGTGGGTGTCATCGTGCGACTAGAACGGGAGACCTTCCAG | GTG c.1680
Q L D P Q T V G V I V R L E R E T F Q | V p.560
. . . . . . g.30874
CTGAACATGTACGGGAAGGTGGTGACTGTCAGACATCAGGCTGTGACCCGGAAGAAGGAC c.1740
L N M Y G K V V T V R H Q A V T R K K D p.580
. . . . . . g.30934
AACCGCTTTGCTGTGGCCTTGGACTCAGAGCAGAACAACATCCATGTGAAAGACATCGTT c.1800
N R F A V A L D S E Q N N I H V K D I V p.600
. . | 19 . . . . g.31095
AAGGTCATTGATGGCCCCCACTCA | GGCCGAGAAGGGGAGATTCGCCATCTCTTCCGAAGC c.1860
K V I D G P H S | G R E G E I R H L F R S p.620
. . . . . . g.31155
TTCGCCTTCCTACATTGCAAGAAACTGGTGGAGAACGGGGGCATGTTTGTCTGCAAGACC c.1920
F A F L H C K K L V E N G G M F V C K T p.640
. . . | 20 . . . g.31893
CGCCACCTGGTGCTGGCTGGGGGCTCAAAG | CCCCGTGATGTGACCAACTTCACCGTGGGT c.1980
R H L V L A G G S K | P R D V T N F T V G p.660
. . . . . | 21 . g.32269
GGCTTTGCGCCTATGAGTCCCCGGATCAGCAGCCCCATGCACCCCAGTGCTGGAG | GTCAG c.2040
G F A P M S P R I S S P M H P S A G G | Q p.680
. . . . . . g.32329
CGTGGCGGCTTTGGTAGCCCAGGTGGCGGCAGTGGTGGCATGAGCAGGGGCCGGGGCCGG c.2100
R G G F G S P G G G S G G M S R G R G R p.700
. . . . . | 22 . g.32471
AGGGACAACGAACTCATCGGCCAGACCGTGCGCATCTCCCAGGGGCCCTACAAAG | GCTAC c.2160
R D N E L I G Q T V R I S Q G P Y K G | Y p.720
. . . . . . g.32531
ATCGGTGTGGTGAAAGATGCCACAGAGTCCACGGCCCGTGTGGAGCTGCACTCCACCTGC c.2220
I G V V K D A T E S T A R V E L H S T C p.740
. . . | 23 . . g.32679
CAGACCATCTCTGTGGACCGTCAGCGGCTCACCACGGT | GGGCTCACGGCGCCCGGGCGGC c.2280
Q T I S V D R Q R L T T V | G S R R P G G p.760
. . . . . . g.32739
ATGACCTCGACCTATGGGAGGACGCCCATGTATGGCTCCCAGACGCCCATGTATGGCTCT c.2340
M T S T Y G R T P M Y G S Q T P M Y G S p.780
. . . . | 24 . . g.32884
GGCTCCCGAACACCCATGTACGGCTCACAGACACCCCTCCAGGATG | GTAGCCGCACCCCA c.2400
G S R T P M Y G S Q T P L Q D G | S R T P p.800
. . . . . . g.32944
CACTACGGCTCACAGACGCCCCTGCATGATGGCAGCCGCACTCCTGCCCAGAGTGGGGCC c.2460
H Y G S Q T P L H D G S R T P A Q S G A p.820
. . . | 25 . . . g.33445
TGGGACCCCAACAACCCCAACACGCCGTCACG | GGCTGAGGAAGAATATGAGTATGCTTTC c.2520
W D P N N P N T P S R | A E E E Y E Y A F p.840
. . . . . . g.33505
GATGATGAGCCCACCCCGTCCCCGCAGGCCTATGGGGGAACCCCCAATCCCCAAACACCT c.2580
D D E P T P S P Q A Y G G T P N P Q T P p.860
. . . . . . g.33565
GGCTACCCAGACCCCTCGTCCCCACAGGTCAACCCACAATACAACCCGCAGACGCCAGGG c.2640
G Y P D P S S P Q V N P Q Y N P Q T P G p.880
. | 26 . . . . . g.33737
ACGCCGGCCAT | GTACAACACAGACCAGTTCTCTCCCTATGCTGCCCCCTCCCCACAAGGT c.2700
T P A M | Y N T D Q F S P Y A A P S P Q G p.900
. . . . . . g.33797
TCCTACCAGCCCAGCCCCAGCCCCCAGAGCTACCACCAGGTGGCGCCAAGCCCAGCAGGC c.2760
S Y Q P S P S P Q S Y H Q V A P S P A G p.920
. . . . . . g.33857
TACCAGAATACCCACTCCCCAGCCAGCTACCACCCTACACCGTCGCCCATGGCCTATCAG c.2820
Y Q N T H S P A S Y H P T P S P M A Y Q p.940
| 27 . . . . . . g.34029
| GCTAGCCCCAGCCCGAGCCCCGTTGGCTACAGTCCTATGACACCTGGAGCTCCCTCCCCT c.2880
| A S P S P S P V G Y S P M T P G A P S P p.960
. . . . . . g.34089
GGTGGCTACAACCCACACACGCCAGGCTCAGGCATCGAGCAGAACTCCAGCGACTGGGTA c.2940
G G Y N P H T P G S G I E Q N S S D W V p.980
. . . . . . g.34149
ACCACTGACATTCAGGTGAAGGTGCGGGACACCTACCTGGATACACAGGTGGTGGGACAG c.3000
T T D I Q V K V R D T Y L D T Q V V G Q p.1000
. . | 28 . . . . g.35571
ACAGGTGTCATCCGCAGTGTCACG | GGGGGCATGTGCTCTGTGTACCTGAAGGACAGTGAG c.3060
T G V I R S V T | G G M C S V Y L K D S E p.1020
. . . . . . g.35631
AAGGTTGTCAGCATTTCCAGTGAGCACCTGGAGCCTATCACCCCCACCAAGAACAACAAG c.3120
K V V S I S S E H L E P I T P T K N N K p.1040
| 29 . . . . . . g.35770
| GTGAAAGTGATCCTGGGCGAGGATCGGGAAGCCACGGGCGTCCTACTGAGCATTGATGGT c.3180
| V K V I L G E D R E A T G V L L S I D G p.1060
. . . . . . g.35830
GAGGATGGCATTGTCCGTATGGACCTTGATGAGCAGCTCAAGATCCTCAACCTCCGCTTC c.3240
E D G I V R M D L D E Q L K I L N L R F p.1080
. . g.35854
CTGGGGAAGCTCCTGGAAGCCTGA c.3264
L G K L L E A X p.1087
. . . . . . g.35914
agcaggcagggccggtggacttcgtcggatgaagagtgatcctccttccttccctggccc c.*60
. . . . . . g.35974
ttggctgtgacacaagatcctcctgcagggctaggcggattgttctggatttccttttgt c.*120
. . . . . . g.36034
ttttccttttagttttccatcttttccctccctggtgctcattggaatctgagtagagtc c.*180
. . . . . . g.36094
tgggggagggtccccaccttcctgtacctcctccccacagcttgcttttgttgtaccgtc c.*240
. . . g.36125
tttcaataaaaagaagctgtttggtctaaaa c.*271
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 24
©2004-2020 Leiden University Medical Center