(used for variant description)
(last modified February 25, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_006644.2 in the HSPH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000013.10, covering HSPH1 transcript NM_006644.2.
(upstream sequence)
. . . g.5038
tgagtaaatgccgcagattctggaaagttctgatcagt c.-361
. . . . . . g.5098
gcgatacataaggctgaggaagtgggacctccccttttgggtcggtagttcagcgccggc c.-301
. . . . . . g.5158
gccggtgtgcgagccgcggcagagtgaggcaggcaacccgaggtgcggagcgacctgcgg c.-241
. . . . . . g.5218
aggctgagccccgctttctcccagggtttcttatcagccagccgccgctgtccccggggg c.-181
. . . . . . g.5278
agtaggaggctcctgacaggccgcggctgtctgtgtgtccttctgagtgtcagaggaacg c.-121
. . . . . . g.5338
gccagaccccgcgggccggagcagaacgcggccagggcagaaagcggcggcaggagaagc c.-61
. . . . . . g.5398
aggcagggggccggaggacgcagaccgagacccgaggcggaggcggaccgcgagccggcc c.-1
. . . . . . g.5458
ATGTCGGTGGTGGGGTTGGACGTGGGCTCGCAGAGCTGCTACATCGCGGTAGCCCGGGCC c.60
M S V V G L D V G S Q S C Y I A V A R A p.20
. . . . | 02. . g.8130
GGGGGCATCGAGACCATCGCCAATGAGTTCAGCGACCGGTGCACCCC | GTCAGTCATATCA c.120
G G I E T I A N E F S D R C T P | S V I S p.40
. . . . | 03 . . g.11341
TTTGGATCAAAAAATAGAACAATCGGAGTTGCAGCCAAAAATCAG | CAAATCACTCATGCA c.180
F G S K N R T I G V A A K N Q | Q I T H A p.60
. . . . . . g.11401
AACAATACGGTGTCTAACTTCAAAAGATTTCATGGCCGAGCATTCAATGACCCCTTCATT c.240
N N T V S N F K R F H G R A F N D P F I p.80
. . . . . . g.11461
CAAAAGGAGAAGGAAAACTTGAGTTACGATTTGGTTCCATTGAAAAATGGTGGAGTTGGA c.300
Q K E K E N L S Y D L V P L K N G G V G p.100
| 04 . . . . . . g.12279
ATAAAG | GTAATGTACATGGGTGAAGAACATCTATTTAGTGTGGAGCAGATAACAGCCATG c.360
I K | V M Y M G E E H L F S V E Q I T A M p.120
. . . . . . g.12339
TTGTTGACTAAGCTGAAGGAAACTGCTGAAAACAGCCTCAAGAAACCAGTAACAGATTGT c.420
L L T K L K E T A E N S L K K P V T D C p.140
| 05 . . . . . g.14080
GTTATTTCA | GTCCCCTCCTTCTTTACAGATGCTGAGAGGCGATCTGTGTTAGATGCTGCA c.480
V I S | V P S F F T D A E R R S V L D A A p.160
. . . . | 06 . g.15249
CAGATTGTTGGCCTAAACTGTTTAAGACTTATGAATGACATGACAGCTG | TTGCTTTGAAT c.540
Q I V G L N C L R L M N D M T A V | A L N p.180
. . . . . . g.15309
TACGGAATTTATAAGCAGGATCTCCCAAGCCTGGATGAGAAACCTCGGATAGTGGTTTTT c.600
Y G I Y K Q D L P S L D E K P R I V V F p.200
. . . . . . g.15369
GTTGATATGGGACATTCAGCTTTTCAAGTGTCTGCTTGTGCTTTTAACAAGGGAAAATTG c.660
V D M G H S A F Q V S A C A F N K G K L p.220
| 07 . . . . . . g.15846
AAG | GTACTGGGAACAGCTTTTGATCCTTTCTTAGGAGGAAAAAACTTCGATGAAAAGTTA c.720
K | V L G T A F D P F L G G K N F D E K L p.240
. . . . . . g.15906
GTGGAACATTTTTGTGCAGAATTTAAAACTAAGTACAAGTTGGATGCAAAATCCAAAATA c.780
V E H F C A E F K T K Y K L D A K S K I p.260
. . . . . . g.15966
CGAGCACTCCTACGTCTGTATCAGGAATGTGAAAAACTGAAAAAGCTAATGAGCTCTAAC c.840
R A L L R L Y Q E C E K L K K L M S S N p.280
. . . . . . g.16026
AGCACAGACCTTCCACTGAATATCGAATGCTTTATGAATGATAAAGATGTTTCCGGAAAG c.900
S T D L P L N I E C F M N D K D V S G K p.300
| 08 . . . . . g.16850
ATGAACAG | GTCACAATTTGAAGAACTCTGTGCTGAACTTCTGCAAAAGATAGAAGTACCC c.960
M N R | S Q F E E L C A E L L Q K I E V P p.320
. . . . . . g.16910
CTTTATTCACTGTTGGAACAAACTCATCTCAAAGTAGAAGATGTGAGTGCAGTTGAGATT c.1020
L Y S L L E Q T H L K V E D V S A V E I p.340
. . . . . . g.16970
GTTGGAGGCGCTACACGAATTCCAGCTGTGAAGGAAAGAATTGCCAAATTCTTTGGAAAA c.1080
V G G A T R I P A V K E R I A K F F G K p.360
. . . . . | 09. g.18503
GATATTAGCACAACACTCAATGCAGATGAAGCAGTAGCCAGAGGATGTGCATTACAG | TGT c.1140
D I S T T L N A D E A V A R G C A L Q | C p.380
. . . . . . g.18563
GCAATACTTTCCCCGGCATTTAAAGTTAGAGAATTTTCCGTCACAGATGCAGTTCCTTTT c.1200
A I L S P A F K V R E F S V T D A V P F p.400
. . . . | 10 . . g.18904
CCAATATCTCTGATCTGGAACCATGATTCAGAAGATACTGAAGG | TGTTCATGAAGTCTTT c.1260
P I S L I W N H D S E D T E G | V H E V F p.420
. . . . . . g.18964
AGTCGAAACCATGCTGCTCCTTTCTCCAAAGTTCTCACCTTTCTGAGAAGGGGGCCTTTT c.1320
S R N H A A P F S K V L T F L R R G P F p.440
. . . . . | 11 g.21214
GAGCTAGAAGCTTTCTATTCTGATCCCCAAGGAGTTCCATATCCAGAAGCAAAAATAG | GC c.1380
E L E A F Y S D P Q G V P Y P E A K I G | p.460
. . . . . . g.21274
CGCTTTGTAGTTCAGAATGTTTCTGCACAGAAAGATGGAGAAAAATCTAGAGTAAAAGTC c.1440
R F V V Q N V S A Q K D G E K S R V K V p.480
. . . . . . g.21334
AAAGTGCGAGTCAACACCCATGGCATTTTCACCATCTCTACGGCATCTATGGTGGAGAAA c.1500
K V R V N T H G I F T I S T A S M V E K p.500
. . . . . . g.21394
GTCCCAACTGAGGAGAATGAAATGTCTTCTGAAGCTGACATGGAGTGTCTGAATCAGAGA c.1560
V P T E E N E M S S E A D M E C L N Q R p.520
. . | 12 . . . . g.23093
CCACCAGAAAACCCAGACACTGAT | AAAAATGTCCAGCAAGACAACAGTGAAGCTGGAACA c.1620
P P E N P D T D | K N V Q Q D N S E A G T p.540
. . . . . . g.23153
CAGCCCCAGGTACAAACTGATGCTCAACAAACCTCACAGTCTCCCCCTTCACCTGAACTT c.1680
Q P Q V Q T D A Q Q T S Q S P P S P E L p.560
. . . | 13 . . . g.25745
ACCTCAGAAGAAAACAAAATCCCAGATGCTGACAAA | GCAAATGAAAAAAAAGTTGACCAG c.1740
T S E E N K I P D A D K | A N E K K V D Q p.580
. . . . . . g.25805
CCTCCAGAAGCTAAAAAGCCCAAAATAAAGGTGGTGAATGTTGAGCTGCCTATTGAAGCC c.1800
P P E A K K P K I K V V N V E L P I E A p.600
. . . . . | 14 . g.26677
AACTTGGTCTGGCAGTTAGGGAAAGACCTTCTTAACATGTATATTGAGACAGAG | GGTAAG c.1860
N L V W Q L G K D L L N M Y I E T E | G K p.620
. . . . . . g.26737
ATGATAATGCAAGATAAATTGGAAAAAGAAAGGAATGATGCTAAAAATGCAGTTGAGGAA c.1920
M I M Q D K L E K E R N D A K N A V E E p.640
. . . . . . g.26797
TATGTGTATGAGTTCAGAGACAAGCTGTGTGGACCATATGAAAAATTTATATGTGAGCAG c.1980
Y V Y E F R D K L C G P Y E K F I C E Q p.660
| 15 . . . . . . g.27933
| GATCATCAAAATTTTTTGAGACTCCTCACAGAAACTGAAGACTGGCTGTATGAAGAAGGA c.2040
| D H Q N F L R L L T E T E D W L Y E E G p.680
. . . . | 16 . g.28092
GAGGACCAAGCTAAACAAGCATATGTTGACAAGTTGGAAGAATTAATG | AAAATTGGCACT c.2100
E D Q A K Q A Y V D K L E E L M | K I G T p.700
. . . . . . g.28152
CCAGTTAAAGTTCGGTTTCAGGAAGCTGAAGAACGGCCAAAAATGTTTGAAGAACTAGGA c.2160
P V K V R F Q E A E E R P K M F E E L G p.720
. . . . | 17 . g.28424
CAGAGGCTGCAGCATTATGCCAAGATAGCAGCTGACTTCAGAAATAAG | GATGAGAAATAC c.2220
Q R L Q H Y A K I A A D F R N K | D E K Y p.740
. . . . . . g.28484
AACCATATTGATGAGTCTGAAATGAAAAAAGTGGAGAAGTCTGTTAATGAAGTGATGGAA c.2280
N H I D E S E M K K V E K S V N E V M E p.760
. . . . . . g.28544
TGGATGAATAATGTCATGAATGCTCAGGCTAAAAAGAGTCTTGATCAGGATCCAGTTGTA c.2340
W M N N V M N A Q A K K S L D Q D P V V p.780
. . . | 18 . . . g.29486
CGTGCTCAGGAAATTAAAACAAAAATCAAG | GAATTGAACAACACATGTGAACCCGTTGTA c.2400
R A Q E I K T K I K | E L N N T C E P V V p.800
. . . . . . g.29546
ACACAACCGAAACCAAAAATTGAATCACCCAAACTGGAAAGAACTCCAAATGGCCCAAAT c.2460
T Q P K P K I E S P K L E R T P N G P N p.820
. . . . . . g.29606
ATTGATAAAAAGGAAGAAGATTTAGAAGACAAAAACAATTTTGGTGCTGAACCTCCACAT c.2520
I D K K E E D L E D K N N F G A E P P H p.840
. . . . . g.29663
CAGAATGGTGAATGTTACCCTAATGAGAAAAATTCTGTTAATATGGACTTGGACTAG c.2577
Q N G E C Y P N E K N S V N M D L D X p.858
. . . . . . g.29723
ataaccttaaattggcctattccttcaattaataaaatatttttgccatagtatgtgact c.*60
. . . . . . g.29783
ctacataacatactgaaactatttatattttcttttttaaggatatttagaaattttgtg c.*120
. . . . . . g.29843
tattatatggaaaaagaaaaaaagcttaagtctgtagtctttatgatcctaaaagggaaa c.*180
. . . . . . g.29903
attgccttggtaactttcagattcctgtggaattgtgaattcatactaagctttctgtgc c.*240
. . . . . . g.29963
agtctcaccatttgcatcactgaggatgaaactgacttttgtcttttggagaaaaaaaac c.*300
. . . . . . g.30023
tgtactgcttgttcaagagggctgtgattaaaatctttaagcatttgttcctgccaaggt c.*360
. . . . . . g.30083
agttttcttgcattttgctctccattcagcatgtgtgtgggtgtggatgtttataaacaa c.*420
. . . . . . g.30143
gactaagtctgacttcataagggctttctaaaaccatttctgtccaagagaaaatgactt c.*480
. . . . . . g.30203
tttgctttgatattaaaaattcaatgagtaaaacaaaagctagtcaaatgtgttagcagc c.*540
. . . . . . g.30263
atgcagaacaaaaactttaaactttctctctcactatacagtatattgtcatgtgaaagt c.*600
. . . . . . g.30323
gtggaatggaagaaatgtcgatcctgttgtaactgattgtgaacacttttatgagcttta c.*660
. . . g.30356
aaataaagttcatcttatggtgtcatttctaaa c.*693
(downstream sequence)
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