(used for variant description)
(last modified May 11, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_052854.3 in the CREB3L1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering CREB3L1 transcript NM_052854.3.
(upstream sequence)
. . . . . g.5015
ccagccaggggttcccggtttcacagagaggaaagtgacagaagacgtgcggag c.-421
. . . . . . g.5075
ggagacgcagagacagaggagaggccggcagccacccagtctcgggggagcacttagctc c.-361
. . . . . . g.5135
ccccgccccggctcccaccctgtccggggggctcctgaagccctcagccccaaccccggg c.-301
. . . . . . g.5195
ctccccatggaagccagctgtgccccaggaggagcaggaggaggtggagtcggctgaatg c.-241
. . . . . . g.5255
cccacggtgcgcccggggcccctgagcccatcccgctcctagccgctgccctaaggcccc c.-181
. . . . . . g.5315
cgcgcgccccgcgccccccacccggggccgcgccgcctccgtccgcccctcccccggggc c.-121
. . . . . . g.5375
ttcgccccggacctgccccccgcccgtttgccagcgctcaggcaggagctctggactggg c.-61
. . . . . . g.5435
cgcgccgccgccctggagtgagggaagcccagtggaagggggtcccgggagccggctgcg c.-1
. . . . . . g.5495
ATGGACGCCGTCTTGGAACCCTTCCCGGCCGACAGGCTGTTCCCCGGATCCAGCTTCCTG c.60
M D A V L E P F P A D R L F P G S S F L p.20
. . . . | 02 . . g.27276
GACTTGGGGGATCTGAACGAGTCGGACTTCCTCAACAATGCG | CACTTTCCTGAGCACCTG c.120
D L G D L N E S D F L N N A | H F P E H L p.40
. . . . . . g.27336
GACCACTTTACGGAGAACATGGAGGACTTCTCCAATGACCTGTTCAGCAGCTTCTTTGAT c.180
D H F T E N M E D F S N D L F S S F F D p.60
. . . . . . g.27396
GACCCTGTGCTGGATGAGAAGAGCCCTCTATTGGACATGGAACTGGACTCCCCTACGCCA c.240
D P V L D E K S P L L D M E L D S P T P p.80
. . . . . . g.27456
GGCATCCAGGCGGAGCACAGCTACTCCCTGAGCGGCGACTCAGCGCCCCAGAGCCCCCTT c.300
G I Q A E H S Y S L S G D S A P Q S P L p.100
. . . | 03 . . . g.35168
GTGCCCATCAAGATGGAGGACACCACCCAAG | ATGCAGAGCATGGAGCATGGGCGCTGGGA c.360
V P I K M E D T T Q D | A E H G A W A L G p.120
. . . . . . g.35228
CACAAACTGTGCTCCATCATGGTGAAGCAGGAGCAGAGCCCGGAGCTGCCCGTGGACCCT c.420
H K L C S I M V K Q E Q S P E L P V D P p.140
. . . . . . g.35288
CTGGCTGCCCCCTCGGCCATGGCTGCCGCGGCCGCCATGGCCACCACCCCGCTGCTGGGC c.480
L A A P S A M A A A A A M A T T P L L G p.160
. . . | 04 . . . g.37336
CTCAGCCCCTTGTCCAGGCTGCCCATCCCCCACCAG | GCCCCGGGAGAGATGACTCAGCTG c.540
L S P L S R L P I P H Q | A P G E M T Q L p.180
. . . . . | 05 . g.38360
CCAGTGATCAAAGCAGAGCCTCTGGAGGTGAACCAGTTCCTCAAAGTGACACCGG | AGGAC c.600
P V I K A E P L E V N Q F L K V T P E | D p.200
. . . . . . g.38420
CTGGTGCAGATGCCTCCGACGCCCCCCAGCAGCCATGGCAGTGACAGCGACGGCTCCCAG c.660
L V Q M P P T P P S S H G S D S D G S Q p.220
. . . . . . g.38480
AGTCCCCGCTCTCTGCCCCCCTCCAGCCCTGTCAGGCCCATGGCGCGCTCCTCCACGGCC c.720
S P R S L P P S S P V R P M A R S S T A p.240
. . . | 06 . . . g.39675
ATCTCCACCTCCCCACTCCTCACTGCCCCTCAC | AAATTACAGGGGACATCAGGGCCACTG c.780
I S T S P L L T A P H | K L Q G T S G P L p.260
. . . . . . g.39735
CTCCTGACAGAGGAGGAGAAGCGGACCCTGATTGCTGAGGGCTACCCCATCCCCACAAAA c.840
L L T E E E K R T L I A E G Y P I P T K p.280
. . . . . . g.39795
CTCCCCCTCACCAAAGCCGAGGAGAAGGCCTTGAAGAGAGTCCGGAGGAAAATCAAGAAC c.900
L P L T K A E E K A L K R V R R K I K N p.300
| 07 . . . . . . g.39992
AAG | ATCTCAGCCCAGGAGAGCCGTCGTAAGAAGAAGGAGTATGTGGAGTGTCTAGAAAAG c.960
K | I S A Q E S R R K K K E Y V E C L E K p.320
| 08 . . . . . . g.40232
AA | GGTGGAGACATTTACATCTGAGAACAATGAACTGTGGAAGAAGGTGGAGACCCTGGAG c.1020
K | V E T F T S E N N E L W K K V E T L E p.340
. | 09 . . . . . g.43658
AATGCCAACAG | GACCCTGCTCCAGCAGCTGCAGAAACTCCAGACTCTGGTCACCAACAAG c.1080
N A N R | T L L Q Q L Q K L Q T L V T N K p.360
. . . . . | 10 . g.44693
ATCTCCAGACCTTACAAGATGGCCGCCACCCAGACTGGGACCTGCCTCATG | GTGGCAGCC c.1140
I S R P Y K M A A T Q T G T C L M | V A A p.380
. . . . . . g.44753
TTGTGCTTTGTTCTGGTGCTGGGCTCCCTCGTGCCCTGCCTTCCCGAGTTCTCCTCCGGC c.1200
L C F V L V L G S L V P C L P E F S S G p.400
. . . . . | 11 g.47589
TCCCAGACTGTGAAGGAAGACCCCCTGGCCGCAGACGGCGTCTACACGGCCAGCCAGA | TG c.1260
S Q T V K E D P L A A D G V Y T A S Q M | p.420
. . . . . . g.47649
CCCTCCCGAAGCCTCCTATTCTACGATGACGGGGCAGGCTTATGGGAAGATGGCCGCAGC c.1320
P S R S L L F Y D D G A G L W E D G R S p.440
. . . . . . g.47709
ACCCTGCTGCCCATGGAGCCCCCAGATGGCTGGGAAATCAACCCCGGGGGGCCGGCAGAG c.1380
T L L P M E P P D G W E I N P G G P A E p.460
. . . . . . g.47769
CAGCGGCCCCGGGACCACCTGCAGCATGATCACCTGGACAGCACCCACGAGACCACCAAG c.1440
Q R P R D H L Q H D H L D S T H E T T K p.480
. . . . . . g.47829
TACCTGAGTGAGGCCTGGCCTAAAGACGGTGGAAACGGCACCAGCCCCGACTTCTCCCAC c.1500
Y L S E A W P K D G G N G T S P D F S H p.500
. . | 12 . . . . g.48069
TCCAAGGAGTGGTTCCACGACAG | GGATCTGGGCCCCAACACCACCATCAAACTCTCCTAG c.1560
S K E W F H D R | D L G P N T T I K L S X p.519
. . . . . . g.48129
gccatgccaagacccaggacataggacggacccctggtacccagaagaggagttcttgct c.*60
. . . . . . g.48189
cactaacccggatccgcctcgtgcccctgcctcctggagcttcccattccaggagaaaag c.*120
. . . . . . g.48249
gctccacttcccagcccttccttgcccctgacatttggactcttcccttgggccgaccac c.*180
. . . . . . g.48309
tctgttctcattctccttcccaccaacatccatccgtccttctcagacaaaccactcact c.*240
. . . . . . g.48369
gggtaccccacctcctctctcatatgcccaacacgaccactgcctccctgcccccacacc c.*300
. . . . . . g.48429
tgcacccaaacagacacatcaacgcaccccactcacagacaccccttaccccacccccac c.*360
. . . . . . g.48489
tgtacagagaccaagaacagaaattgtttgtaaataatgaaccttattttttattattgc c.*420
. . . . . . g.48549
caatcccctaagatattgtattttacaaatctccctcttcccttcgcccctcccttgttt c.*480
. . . . . . g.48609
tatattttatgaagttagtgcgggctttgctgctccctggcccaggaaagagggactacc c.*540
. . . . . . g.48669
tgaccctcacctggcacccccctgctgctgcccaagccgctgggcctttttaattgccaa c.*600
. . . . . . g.48729
actgctctcttcatcagctcagcacatgctttaagaaagcaaaaccaaaaaaaaaaaaaa c.*660
. g.48745
aaagatgcagcatcaa c.*676
(downstream sequence)
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