(used for variant description)
(last modified May 28, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_017730.2 in the QRICH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering QRICH1 transcript NM_017730.2.
(upstream sequence)
g.5001
a c.-241
. . . . . . g.5061
ttggctgtgagggttgaatgtaagatggcgcccagggagctgtgaggagaaaaccctgtc c.-181
. . . . . . g.5121
ggtcttggagcgacgacggcagaaccagggtccctggcggtgcggcggggccggcgggtg c.-121
. . . . | 02 . g.6636
cagcggaggcggcggcggcggcggcagtgacgtcgccgg | aatattagaagtcttaagaac c.-61
. . . . | 03 . g.22054
tcaggacaagcagcagaaatacatgcaacatggtgactg | gaaccctaaggactctgcaat c.-1
. . . . . . g.22114
ATGAATAATTCCCTAGAGAACACCATCTCCTTTGAAGAGTACATCCGAGTAAAGGCACGG c.60
M N N S L E N T I S F E E Y I R V K A R p.20
. . . . . . g.22174
TCTGTCCCGCAACACAGGATGAAGGAATTTCTGGACTCACTGGCCTCTAAGGGGCCAGAA c.120
S V P Q H R M K E F L D S L A S K G P E p.40
. . . . . . g.22234
GCCCTTCAGGAGTTCCAGCAGACAGCCACCACTACCATGGTGTACCAACAGGGTGGGAAC c.180
A L Q E F Q Q T A T T T M V Y Q Q G G N p.60
. . . . . . g.22294
TGCATATACACAGACAGCACTGAAGTGGCTGGGTCTTTGCTTGAACTTGCCTGTCCAGTC c.240
C I Y T D S T E V A G S L L E L A C P V p.80
. . . . . . g.22354
ACCACCAGTGTTCAGCCACAAACCCAGCAAGAACAGCAGATCCAGGTTCAGCAGCCGCAG c.300
T T S V Q P Q T Q Q E Q Q I Q V Q Q P Q p.100
| 04 . . . . . g.41232
CAGGTTCAG | GTCCAGGTGCAGGTACAGCAGTCTCCGCAACAGGTCTCGGCTCAGCTCTCC c.360
Q V Q | V Q V Q V Q Q S P Q Q V S A Q L S p.120
. . . . . . g.41292
CCACAACTCACCGTTCACCAGCCTACTGAGCAACCCATCCAGGTCCAGGTGCAGATCCAA c.420
P Q L T V H Q P T E Q P I Q V Q V Q I Q p.140
. . . . . . g.41352
GGCCAGGCACCACAGTCAGCAGCCCCCTCCATTCAGACCCCGTCTCTGCAGAGTCCCAGT c.480
G Q A P Q S A A P S I Q T P S L Q S P S p.160
. . . . . . g.41412
CCCTCGCAGCTGCAAGCAGCTCAGATCCAGGTGCAGCACGTGCAAGCAGCCCAGCAGATC c.540
P S Q L Q A A Q I Q V Q H V Q A A Q Q I p.180
. . . . . . g.41472
CAGGCTGCAGAAATCCCGGAGGAGCACATCCCACATCAGCAAATCCAGGCTCAGCTGGTG c.600
Q A A E I P E E H I P H Q Q I Q A Q L V p.200
. . . . . . g.41532
GCTGGCCAGTCTCTTGCTGGTGGTCAGCAGATCCAAATCCAGACCGTGGGTGCCCTTTCC c.660
A G Q S L A G G Q Q I Q I Q T V G A L S p.220
. . . . . . g.41592
CCACCACCATCCCAGCAGGGCTCACCCCGGGAAGGGGAGCGGCGGGTTGGCACGGCCAGT c.720
P P P S Q Q G S P R E G E R R V G T A S p.240
. . . . . . g.41652
GTCCTCCAACCAGTGAAGAAGCGCAAAGTGGACATGCCCATCACTGTGTCCTACGCCATC c.780
V L Q P V K K R K V D M P I T V S Y A I p.260
. . . . . . g.41712
TCAGGGCAGCCGGTGGCCACCGTGCTGGCCATTCCACAGGGCCAGCAGCAGAGTTATGTG c.840
S G Q P V A T V L A I P Q G Q Q Q S Y V p.280
. . . . . . g.41772
TCTTTGAGGCCAGACTTACTGACAGTAGACAGTGCCCACCTGTACAGTGCCACTGGGACC c.900
S L R P D L L T V D S A H L Y S A T G T p.300
. . . . . . g.41832
ATTACTAGCCCTACAGGAGAAACCTGGACCATCCCTGTTTATTCTGCCCAGCCCCGGGGG c.960
I T S P T G E T W T I P V Y S A Q P R G p.320
. . . . . . g.41892
GACCCTCAGCAGCAGAGCATTACCCACATTGCCATTCCCCAGGAAGCCTACAACGCAGTT c.1020
D P Q Q Q S I T H I A I P Q E A Y N A V p.340
. . . . . . g.41952
CACGTCAGTGGCTCACCCACAGCCCTGGCAGCTGTTAAGCTGGAGGATGACAAGGAGAAG c.1080
H V S G S P T A L A A V K L E D D K E K p.360
. . . . . . g.42012
ATGGTGGGCACCACATCTGTAGTGAAAAACTCCCATGAAGAGGTAGTGCAGACCCTTGCA c.1140
M V G T T S V V K N S H E E V V Q T L A p.380
. . . . . . g.42072
AACTCTCTCTTTCCAGCACAGTTCATGAATGGCAACATCCACATTCCAGTGGCTGTGCAG c.1200
N S L F P A Q F M N G N I H I P V A V Q p.400
. . . . . . g.42132
GCTGTGGCAGGCACGTACCAGAATACGGCTCAAACTGTCCATATATGGGACCCCCAACAG c.1260
A V A G T Y Q N T A Q T V H I W D P Q Q p.420
. . . . . . g.42192
CAGCCGCAGCAGCAAACTCCCCAGGAACAGACACCACCACCACAGCAGCAGCAGCAGCAA c.1320
Q P Q Q Q T P Q E Q T P P P Q Q Q Q Q Q p.440
. | 05 . . . . g.51867
CTCCAAGTTACTTGTTCA | GCTCAAACTGTCCAGGTTGCTGAAGTTGAACCACAGTCACAG c.1380
L Q V T C S | A Q T V Q V A E V E P Q S Q p.460
. . . . . . g.51927
CCACAGCCTTCCCCAGAACTTCTGCTTCCAAATTCTTTGAAGCCAGAAGAAGGGCTTGAA c.1440
P Q P S P E L L L P N S L K P E E G L E p.480
. . . . . . g.51987
GTATGGAAAAACTGGGCCCAGACCAAGAATGCTGAACTAGAGAAGGATGCTCAGAACAGA c.1500
V W K N W A Q T K N A E L E K D A Q N R p.500
. | 06 . . . . . g.52536
TTGGCACCCATTGGGA | GGCGCCAACTGCTGCGATTCCAGGAAGATCTCATCTCCTCTGCT c.1560
L A P I G R | R Q L L R F Q E D L I S S A p.520
. . . . . . g.52596
GTGGCAGAGTTGAATTATGGGCTCTGTCTAATGACACGGGAAGCTCGAAATGGAGAAGGT c.1620
V A E L N Y G L C L M T R E A R N G E G p.540
. . . . . | 07 . g.54576
GAACCCTATGACCCAGATGTGCTCTACTATATTTTCCTGTGTATTCAAAAG | TATCTTTTT c.1680
E P Y D P D V L Y Y I F L C I Q K | Y L F p.560
. . . . . . g.54636
GAAAATGGAAGGGTAGATGACATTTTCTCCGATCTTTATTATGTTCGGTTCACGGAGTGG c.1740
E N G R V D D I F S D L Y Y V R F T E W p.580
. . . . | 08 . . g.65857
CTACATGAAGTTCTGAAGGATGTTCAGCCCCGGGTCACTCCACTTG | GCTATGTCTTGCCC c.1800
L H E V L K D V Q P R V T P L G | Y V L P p.600
. . . . . . g.65917
AGCCACGTGACTGAGGAGATGCTATGGGAGTGCAAGCAGCTTGGGGCTCACTCCCCCTCC c.1860
S H V T E E M L W E C K Q L G A H S P S p.620
. . . | 09 . . . g.66323
ACCTTGCTGACCACCCTCATGTTCTTTAATACCAA | GTACTTCCTATTGAAGACAGTGGAC c.1920
T L L T T L M F F N T K | Y F L L K T V D p.640
. . . . . . g.66383
CAGCACATGAAGCTGGCCTTCTCCAAGGTCTTGCGACAGACAAAGAAGAACCCCTCTAAT c.1980
Q H M K L A F S K V L R Q T K K N P S N p.660
. . . . . . g.66443
CCCAAGGATAAAAGCACGAGTATCCGGTACTTGAAGGCCCTTGGAATACACCAGACTGGC c.2040
P K D K S T S I R Y L K A L G I H Q T G p.680
| 10. . . . . . g.66851
CAGAAAG | TTACAGATGACATGTATGCAGAACAGACGGAAAATCCAGAGAATCCATTGAGA c.2100
Q K V | T D D M Y A E Q T E N P E N P L R p.700
. . . | 11 . . g.68449
TGTCCCATCAAGCTCTATGATTTCTACCTCTTCAAATG | CCCCCAGAGTGTGAAAGGCCGG c.2160
C P I K L Y D F Y L F K C | P Q S V K G R p.720
. . . . . . g.68509
AATGACACCTTTTACCTGACACCTGAGCCAGTGGTGGCCCCCAACAGCCCAATCTGGTAC c.2220
N D T F Y L T P E P V V A P N S P I W Y p.740
. . . . . . g.68569
TCAGTCCAGCCTATCAGCAGAGAGCAGATGGGACAAATGCTGACGCGGATCCTGGTGATA c.2280
S V Q P I S R E Q M G Q M L T R I L V I p.760
. . . . . g.68620
AGAGAAATTCAGGAGGCCATCGCAGTGGCCAATGCAAGCACTATGCACTGA c.2331
R E I Q E A I A V A N A S T M H X p.776
. . . . . . g.68680
gatgccttggccatggcacaagagaaaccagccaggaaaaaccagacagactttcacact c.*60
. . . . . . g.68740
aaagaagaggcctccatttttttttttcttttttttattggtgtagttacgaagcctttc c.*120
. . . . . . g.68800
aggctgcttctgtttaaaatataaaagaaaactttgccccctttgcatcttcataaacct c.*180
. . . . . . g.68860
gctgcggcagactcctcagccgatggtggctctgggtttccttgagtgtcatatgtccta c.*240
. . . . . . g.68920
gaaagttgctggctgactcttttttgtctggggcctggggaaagggcttggactgtgaaa c.*300
. . . . . . g.68980
agaaatgtggcccctttccatcttcaagagagatggaattaatgatggatggaccctgga c.*360
. . . . . . g.69040
gggaatctccccagccgacttccactgggctgacagactttgctgaccacaggggaacga c.*420
. . . . . . g.69100
tgttcttttctttcttcatgatcagacataaacttagcatcttaatggaagaaaaatgag c.*480
. . . . . . g.69160
gggaacttcaattatgatttattaaagacaatttctattacaccctcctttatgacaagt c.*540
. . . . . . g.69220
gacattttagatgtaaaagtaaaaactttaccatgccttttttttttttgttggcctaac c.*600
. . . . . . g.69280
attgaggccttaaaacctgaggctcctgtgcctgatggaattcttgtaacatacacttgt c.*660
. . . . . . g.69340
gtatcatataaagataccactctgtttctcttatgtattcttactctagttgtttattaa c.*720
. . g.69363
gaatgacaagcacgtcttttcaa c.*743
(downstream sequence)
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