(used for variant description)
(last modified June 2, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_001639.3 in the APCS gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering APCS transcript NM_001639.3.
(upstream sequence)
. . . g.5036
gggcatgaatatcagacgctagggggacagccactg c.-61
. . . . . . g.5096
tgttgtctgctaccctcatcctggtcactgcttctgctataacagccctaggccaggaat c.-1
. . . . . . g.5156
ATGAACAAGCCGCTGCTTTGGATCTCTGTCCTCACCAGCCTCCTGGAAGCCTTTGCTCAC c.60
M N K P L L W I S V L T S L L E A F A H p.20
| 02 . . . . . . g.5331
ACAG | ACCTCAGTGGGAAGGTGTTTGTATTTCCTAGAGAATCTGTTACTGATCATGTAAAC c.120
T D | L S G K V F V F P R E S V T D H V N p.40
. . . . . . g.5391
TTGATCACACCGCTGGAGAAGCCTCTACAGAACTTTACCTTGTGTTTTCGAGCCTATAGT c.180
L I T P L E K P L Q N F T L C F R A Y S p.60
. . . . . . g.5451
GATCTCTCTCGTGCCTACAGCCTCTTCTCCTACAATACCCAAGGCAGGGATAATGAGCTA c.240
D L S R A Y S L F S Y N T Q G R D N E L p.80
. . . . . . g.5511
CTAGTTTATAAAGAAAGAGTTGGAGAGTATAGTCTATACATTGGAAGACACAAAGTTACA c.300
L V Y K E R V G E Y S L Y I G R H K V T p.100
. . . . . . g.5571
TCCAAAGTTATCGAAAAGTTCCCGGCTCCAGTGCACATCTGTGTGAGCTGGGAGTCCTCA c.360
S K V I E K F P A P V H I C V S W E S S p.120
. . . . . . g.5631
TCAGGTATTGCTGAATTTTGGATCAATGGGACACCTTTGGTGAAAAAGGGTCTGCGACAG c.420
S G I A E F W I N G T P L V K K G L R Q p.140
. . . . . . g.5691
GGTTACTTTGTAGAAGCTCAGCCCAAGATTGTCCTGGGGCAGGAACAGGATTCCTATGGG c.480
G Y F V E A Q P K I V L G Q E Q D S Y G p.160
. . . . . . g.5751
GGCAAGTTTGATAGGAGCCAGTCCTTTGTGGGAGAGATTGGGGATTTGTACATGTGGGAC c.540
G K F D R S Q S F V G E I G D L Y M W D p.180
. . . . . . g.5811
TCTGTGCTGCCCCCAGAAAATATCCTGTCTGCCTATCAGGGTACCCCTCTCCCTGCCAAT c.600
S V L P P E N I L S A Y Q G T P L P A N p.200
. . . . . . g.5871
ATCCTGGACTGGCAGGCTCTGAACTATGAAATCAGAGGATATGTCATCATCAAACCCTTG c.660
I L D W Q A L N Y E I R G Y V I I K P L p.220
. g.5883
GTGTGGGTCTGA c.672
V W V X p.223
. . . . . . g.5943
ggtcttgactcaacgagagcacttgaaaatgaaatgactgtctaagagatctggtcaaag c.*60
. . . . . . g.6003
caactggatactagatcttacatctgcagctctttcttctttgaatttcctatctgtatg c.*120
. . . . g.6046
tctgcctaattaaaaaaatatatattgtattatgctacctgca c.*163
(downstream sequence)
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