(used for variant description)
(last modified December 2, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_006121.3 in the KRT1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008364.1, covering KRT1 transcript NM_006121.3.
(upstream sequence)
. . . . . g.5059
agaggagtgtttagctccttcccttactctaccttgctcctacttttctctaagtcaac c.-1
. . . . . . g.5119
ATGAGTCGACAGTTTAGTTCCAGGTCTGGGTACCGAAGTGGAGGGGGCTTCAGCTCTGGC c.60
M S R Q F S S R S G Y R S G G G F S S G p.20
. . . . . . g.5179
TCTGCTGGGATCATCAACTACCAGCGCAGGACCACCAGCAGCTCCACACGCCGCAGTGGA c.120
S A G I I N Y Q R R T T S S S T R R S G p.40
. . . . . . g.5239
GGAGGTGGTGGGAGATTTTCAAGCTGTGGTGGTGGTGGTGGTAGCTTTGGTGCTGGTGGT c.180
G G G G R F S S C G G G G G S F G A G G p.60
. . . . . . g.5299
GGATTTGGAAGTCGGAGTCTTGTTAACCTTGGTGGCAGTAAAAGCATCTCCATAAGTGTG c.240
G F G S R S L V N L G G S K S I S I S V p.80
. . . . . . g.5359
GCTAGAGGAGGTGGACGTGGTAGTGGCTTTGGTGGTGGTTATGGTGGTGGTGGCTTTGGT c.300
A R G G G R G S G F G G G Y G G G G F G p.100
. . . . . . g.5419
GGTGGTGGCTTTGGTGGTGGTGGCTTTGGTGGAGGTGGCATTGGGGGTGGTGGCTTTGGT c.360
G G G F G G G G F G G G G I G G G G F G p.120
. . . . . . g.5479
GGTTTTGGCAGTGGTGGTGGTGGTTTTGGTGGAGGTGGCTTTGGGGGTGGTGGATATGGG c.420
G F G S G G G G F G G G G F G G G G Y G p.140
. . . . . . g.5539
GGTGGTTATGGTCCTGTCTGCCCTCCTGGTGGCATACAAGAAGTCACTATCAACCAGAGC c.480
G G Y G P V C P P G G I Q E V T I N Q S p.160
. . . . . . g.5599
CTTCTTCAGCCCCTCAATGTGGAGATTGACCCTGAGATCCAAAAGGTGAAGTCTCGAGAA c.540
L L Q P L N V E I D P E I Q K V K S R E p.180
. . . . . | 02 . g.6660
AGGGAGCAAATCAAGTCACTCAACAACCAATTTGCCTCCTTCATTGACAAG | GTGAGGTTC c.600
R E Q I K S L N N Q F A S F I D K | V R F p.200
. . . . . . g.6720
CTGGAGCAGCAGAACCAGGTACTGCAAACAAAATGGGAGCTGCTGCAGCAGGTAGATACC c.660
L E Q Q N Q V L Q T K W E L L Q Q V D T p.220
. . . . . . g.6780
TCCACTAGAACCCATAATTTAGAGCCCTACTTTGAGTCATTCATCAACAATCTCCGAAGG c.720
S T R T H N L E P Y F E S F I N N L R R p.240
. . . . . . g.6840
AGAGTGGACCAACTGAAGAGTGATCAATCTCGGTTGGATTCGGAACTGAAGAACATGCAG c.780
R V D Q L K S D Q S R L D S E L K N M Q p.260
. . | 03 . . . . g.7218
GACATGGTGGAGGATTACCGGAACAA | GTATGAGGATGAAATCAACAAGCGGACAAATGCA c.840
D M V E D Y R N K | Y E D E I N K R T N A p.280
. . | 04. . . . g.7695
GAGAATGAATTTGTGACCATCAAGAAG | GATGTGGATGGTGCTTATATGACCAAGGTGGAC c.900
E N E F V T I K K | D V D G A Y M T K V D p.300
. . . . . . g.7755
CTTCAGGCCAAACTTGACAACTTGCAGCAGGAAATTGATTTCCTTACAGCACTCTACCAA c.960
L Q A K L D N L Q Q E I D F L T A L Y Q p.320
| 05 . . . . . . g.7984
GCA | GAGTTGTCTCAGATGCAGACTCAAATCAGTGAAACTAATGTCATCCTCTCTATGGAC c.1020
A | E L S Q M Q T Q I S E T N V I L S M D p.340
. . . . . . g.8044
AACAACCGCAGTCTCGACCTGGACAGCATCATTGCTGAGGTCAAGGCCCAGTACGAGGAT c.1080
N N R S L D L D S I I A E V K A Q Y E D p.360
. . . . | 06 . g.8235
ATAGCCCAGAAGAGCAAAGCTGAGGCCGAGTCCTTGTACCAGAGCAAG | TATGAAGAGCTG c.1140
I A Q K S K A E A E S L Y Q S K | Y E E L p.380
. . . . . . g.8295
CAGATCACTGCTGGCAGACATGGGGATAGTGTGAGAAATTCAAAGATAGAAATTTCTGAG c.1200
Q I T A G R H G D S V R N S K I E I S E p.400
. . . . . | 07 . g.8918
CTGAATCGTGTGATCCAGAGACTTAGATCTGAAATCGACAATGTCAAGAAGCAG | ATCTCC c.1260
L N R V I Q R L R S E I D N V K K Q | I S p.420
. . . . . . g.8978
AACTTGCAGCAGTCCATCAGTGATGCAGAGCAGCGTGGCGAGAATGCCCTCAAGGATGCC c.1320
N L Q Q S I S D A E Q R G E N A L K D A p.440
. . . . . . g.9038
AAGAACAAGCTGAATGACCTGGAGGATGCCCTGCAGCAGGCCAAGGAAGACCTGGCCCGC c.1380
K N K L N D L E D A L Q Q A K E D L A R p.460
. . . . . . g.9098
CTGCTGCGCGACTACCAGGAGCTGATGAACACCAAGCTGGCCCTGGATCTGGAGATTGCC c.1440
L L R D Y Q E L M N T K L A L D L E I A p.480
. . . | 08 . . . g.9688
ACCTACAGGACCCTCCTGGAGGGAGAAGAAAGCAG | GATGTCTGGAGAATGTGCCCCGAAC c.1500
T Y R T L L E G E E S R | M S G E C A P N p.500
. | 09 . . . . . g.9840
GTGAGTGTGT | CTGTGAGCACAAGCCACACCACCATCAGTGGAGGTGGCAGCCGAGGAGGT c.1560
V S V S | V S T S H T T I S G G G S R G G p.520
. . . . . . g.9900
GGCGGCGGTGGCTACGGCTCTGGAGGTAGCAGCTATGGCTCCGGAGGTGGTAGCTATGGT c.1620
G G G G Y G S G G S S Y G S G G G S Y G p.540
. . . . . . g.9960
TCTGGAGGTGGCGGCGGCGGCGGCCGTGGCAGCTATGGCTCCGGAGGTAGCAGCTACGGC c.1680
S G G G G G G G R G S Y G S G G S S Y G p.560
. . . . . . g.10020
TCCGGAGGTGGCAGCTATGGCTCTGGAGGTGGCGGCGGCGGCCATGGCAGCTACGGCTCC c.1740
S G G G S Y G S G G G G G G H G S Y G S p.580
. . . . . . g.10080
GGAAGCAGCAGTGGGGGCTACAGAGGTGGCTCTGGAGGCGGCGGCGGCGGCAGCTCTGGC c.1800
G S S S G G Y R G G S G G G G G G S S G p.600
. . . . . . g.10140
GGCCGGGGCTCTGGCGGCGGGAGCTCTGGAGGCTCCATAGGAGGCCGGGGATCCAGCTCT c.1860
G R G S G G G S S G G S I G G R G S S S p.620
. . . . . . g.10200
GGGGGTGTCAAGTCCTCTGGTGGCAGTTCCAGCGTGAAGTTTGTTTCTACCACTTATTCC c.1920
G G V K S S G G S S S V K F V S T T Y S p.640
. g.10215
GGAGTAACCAGATAA c.1935
G V T R X p.644
. . . . . . g.10275
agagatgccctctgtttcattagctctagttctcccccagcatcactaacaaatatgctt c.*60
. . . . . . g.10335
ggcaagaccgaggtcgatttgtcccagccttaccggagaaaagagctatggttagttaca c.*120
. . . . . . g.10395
ctagctcatcctattcccccagctctttcttttctgctgtttcccaatgaagttttcaga c.*180
. . . . . . g.10455
tcagtggcaatctcagtcccctggctatgaccctgctttgttctttccctgagaaacagt c.*240
. . . . . . g.10515
tcagcagtgaccaccacccacatgacatttcaaagcacctccttaagccagccagagtag c.*300
. . . . . . g.10575
gaccagttagacccagggtgtggacagctccttagcatcttatctctgtgctgttttggt c.*360
. . . . . . g.10635
tttgtacataaggtgtaagcaagttgtttttcttttgtggagaggtcttaaactccccat c.*420
. . . g.10672
ttccttgttttgctgcaataaactgcatttgaaattc c.*457
(downstream sequence)
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