(used for variant description)
(last modified October 19, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000488.3 in the SERPINC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012462.1, covering SERPINC1 transcript NM_000488.3.
(upstream sequence)
. . . . . g.5059
tctgccccaccctgtcctctggaacctctgcgagatttagaggaaagaaccagttttca c.-61
. . . . . . g.5119
ggcggattgcctcagatcacactatctccacttgcccagccctgtggaagattagcggcc c.-1
. . . . | 02 . . g.7478
ATGTATTCCAATGTGATAGGAACTGTAACCTCTGGAAAAAG | GAAGGTTTATCTTTTGTCC c.60
M Y S N V I G T V T S G K R | K V Y L L S p.20
. . . . . . g.7538
TTGCTGCTCATTGGCTTCTGGGACTGCGTGACCTGTCACGGGAGCCCTGTGGACATCTGC c.120
L L L I G F W D C V T C H G S P V D I C p.40
. . . . . . g.7598
ACAGCCAAGCCGCGGGACATTCCCATGAATCCCATGTGCATTTACCGCTCCCCGGAGAAG c.180
T A K P R D I P M N P M C I Y R S P E K p.60
. . . . . . g.7658
AAGGCAACTGAGGATGAGGGCTCAGAACAGAAGATCCCGGAGGCCACCAACCGGCGTGTC c.240
K A T E D E G S E Q K I P E A T N R R V p.80
. . . . . . g.7718
TGGGAACTGTCCAAGGCCAATTCCCGCTTTGCTACCACTTTCTATCAGCACCTGGCAGAT c.300
W E L S K A N S R F A T T F Y Q H L A D p.100
. . . . . . g.7778
TCCAAGAATGACAATGATAACATTTTCCTGTCACCCCTGAGTATCTCCACGGCTTTTGCT c.360
S K N D N D N I F L S P L S I S T A F A p.120
. . . . | 03 . g.10376
ATGACCAAGCTGGGTGCCTGTAATGACACCCTCCAGCAACTGATGGAG | GTATTTAAGTTT c.420
M T K L G A C N D T L Q Q L M E | V F K F p.140
. . . . . . g.10436
GACACCATATCTGAGAAAACATCTGATCAGATCCACTTCTTCTTTGCCAAACTGAACTGC c.480
D T I S E K T S D Q I H F F F A K L N C p.160
. . . . . . g.10496
CGACTCTATCGAAAAGCCAACAAATCCTCCAAGTTAGTATCAGCCAATCGCCTTTTTGGA c.540
R L Y R K A N K S S K L V S A N R L F G p.180
. . . . . . g.10556
GACAAATCCCTTACCTTCAATGAGACCTACCAGGACATCAGTGAGTTGGTATATGGAGCC c.600
D K S L T F N E T Y Q D I S E L V Y G A p.200
. . | 04 . . . . g.11523
AAGCTCCAGCCCCTGGACTTCAAG | GAAAATGCAGAGCAATCCAGAGCGGCCATCAACAAA c.660
K L Q P L D F K | E N A E Q S R A A I N K p.220
. . . . . . g.11583
TGGGTGTCCAATAAGACCGAAGGCCGAATCACCGATGTCATTCCCTCGGAAGCCATCAAT c.720
W V S N K T E G R I T D V I P S E A I N p.240
. . . . | 05 . . g.12454
GAGCTCACTGTTCTGGTGCTGGTTAACACCATTTACTTCAAG | GGCCTGTGGAAGTCAAAG c.780
E L T V L V L V N T I Y F K | G L W K S K p.260
. . . . . . g.12514
TTCAGCCCTGAGAACACAAGGAAGGAACTGTTCTACAAGGCTGATGGAGAGTCGTGTTCA c.840
F S P E N T R K E L F Y K A D G E S C S p.280
. . . . . . g.12574
GCATCTATGATGTACCAGGAAGGCAAGTTCCGTTATCGGCGCGTGGCTGAAGGCACCCAG c.900
A S M M Y Q E G K F R Y R R V A E G T Q p.300
. . . . . . g.12634
GTGCTTGAGTTGCCCTTCAAAGGTGATGACATCACCATGGTCCTCATCTTGCCCAAGCCT c.960
V L E L P F K G D D I T M V L I L P K P p.320
. . . . . . g.12694
GAGAAGAGCCTGGCCAAGGTAGAGAAGGAACTCACCCCAGAGGTGCTGCAAGAGTGGCTG c.1020
E K S L A K V E K E L T P E V L Q E W L p.340
. . . . . . g.12754
GATGAATTGGAGGAGATGATGCTGGTGGTCCACATGCCCCGCTTCCGCATTGAGGACGGC c.1080
D E L E E M M L V V H M P R F R I E D G p.360
. . . . . . g.12814
TTCAGTTTGAAGGAGCAGCTGCAAGACATGGGCCTTGTCGATCTGTTCAGCCCTGAAAAG c.1140
F S L K E Q L Q D M G L V D L F S P E K p.380
. | 06 . . . . . g.14911
TCCAAACTCCCAG | GTATTGTTGCAGAAGGCCGAGATGACCTCTATGTCTCAGATGCATTC c.1200
S K L P G | I V A E G R D D L Y V S D A F p.400
. | 07 . . . . g.18355
CATAAGGCATTTCTTGAG | GTAAATGAAGAAGGCAGTGAAGCAGCTGCAAGTACCGCTGTT c.1260
H K A F L E | V N E E G S E A A A S T A V p.420
. . . . . . g.18415
GTGATTGCTGGCCGTTCGCTAAACCCCAACAGGGTGACTTTCAAGGCCAACAGGCCTTTC c.1320
V I A G R S L N P N R V T F K A N R P F p.440
. . . . . . g.18475
CTGGTTTTTATAAGAGAAGTTCCTCTGAACACTATTATCTTCATGGGCAGAGTAGCCAAC c.1380
L V F I R E V P L N T I I F M G R V A N p.460
. g.18490
CCTTGTGTTAAGTAA c.1395
P C V K X p.464
. . . . . . g.18550
aatgttcttattctttgcacctcttcctatttttggtttgtgaacagaagtaaaaataaa c.*60
. . g.18575
tacaaactacttccatctcacatta c.*85
(downstream sequence)
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