(used for variant description)
(last modified November 20, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_014053.3 in the FLVCR1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_028131.1, covering FLVCR1 transcript NM_014053.3.
(upstream sequence)
. g.5018
gccgcgcggcgcggggga c.-181
. . . . . . g.5078
ggagaccttcatctgttcacgcggtagcgcggattgcggttcgcggcgcgcgccaccggg c.-121
. . . . . . g.5138
gaaggagcggtgggccgaggggttggaggtggggccccaggaggacctcgggctgtgggc c.-61
. . . . . . g.5198
cgggagagcggagtcggggagtggggcgggggagcgaggtggcgccggggagcctgggat c.-1
. . . . . . g.5258
ATGGCGCGGCCAGACGATGAGGAGGGGGCGGCGGTGGCGCCCGGACACCCGCTCGCGAAA c.60
M A R P D D E E G A A V A P G H P L A K p.20
. . . . . . g.5318
GGATACCTCCCGTTGCCGAGGGGCGCGCCCGTTGGGAAGGAGAGCGTGGAGCTGCAGAAC c.120
G Y L P L P R G A P V G K E S V E L Q N p.40
. . . . . . g.5378
GGGCCCAAAGCGGGCACCTTCCCGGTGAATGGGGCCCCCCGGGACAGCCTCGCTGCCGCC c.180
G P K A G T F P V N G A P R D S L A A A p.60
. . . . . . g.5438
TCGGGAGTTCTGGGCGGGCCTCAGACTCCACTGGCCCCAGAAGAGGAGACCCAGGCCCGG c.240
S G V L G G P Q T P L A P E E E T Q A R p.80
. . . . . . g.5498
CTGCTGCCTGCGGGCGCGGGAGCTGAGACCCCGGGGGCCGAGAGCAGCCCGCTGCCCCTT c.300
L L P A G A G A E T P G A E S S P L P L p.100
. . . . . . g.5558
ACGGCGCTCTCCCCGCGGCGCTTCGTGGTGCTCCTGATCTTCAGCCTGTACTCGCTGGTC c.360
T A L S P R R F V V L L I F S L Y S L V p.120
. . . . . . g.5618
AACGCCTTTCAGTGGATCCAGTACAGCATCATTAGCAACGTCTTCGAGGGCTTCTACGGT c.420
N A F Q W I Q Y S I I S N V F E G F Y G p.140
. . . . . . g.5678
GTCACCTTGCTGCACATCGACTGGCTGTCCATGGTGTACATGCTGGCCTACGTGCCCCTC c.480
V T L L H I D W L S M V Y M L A Y V P L p.160
. . . . . . g.5738
ATCTTCCCGGCCACCTGGCTGCTGGACACCAGAGGCCTGCGGCTCACCGCCCTGCTGGGC c.540
I F P A T W L L D T R G L R L T A L L G p.180
. . . . . . g.5798
TCCGGCCTCAACTGCCTGGGTGCCTGGATCAAGTGCGGCAGTGTGCAGCAGCATCTCTTC c.600
S G L N C L G A W I K C G S V Q Q H L F p.200
. . . . . . g.5858
TGGGTCACCATGTTGGGCCAGTGCTTGTGCTCGGTGGCCCAGGTGTTCATCCTGGGCTTG c.660
W V T M L G Q C L C S V A Q V F I L G L p.220
. . . . . . g.5918
CCCTCCCGCATCGCCTCAGTGTGGTTTGGGCCCAAAGAGGTGTCCACAGCTTGTGCCACC c.720
P S R I A S V W F G P K E V S T A C A T p.240
. | 02 . . . . g.10512
GCCGTGCTGGGCAATCAG | CTTGGAACTGCAGTTGGCTTTTTGCTACCACCAGTTTTAGTA c.780
A V L G N Q | L G T A V G F L L P P V L V p.260
. . . . . . g.10572
CCCAACACACAGAATGACACAAATCTCCTGGCTTGTAATATCAGCACCATGTTTTATGGA c.840
P N T Q N D T N L L A C N I S T M F Y G p.280
. . . . | 03 . . g.19440
ACATCAGCTGTTGCCACACTTTTATTTATTTTAACAGCAATTG | CCTTCAAAGAAAAACCT c.900
T S A V A T L L F I L T A I A | F K E K P p.300
. . . . . . g.19500
CGGTATCCACCAAGTCAGGCTCAAGCAGCTCTTCAAGACAGTCCCCCTGAAGAGTACTCC c.960
R Y P P S Q A Q A A L Q D S P P E E Y S p.320
. . . . . . g.19560
TATAAGAAATCAATAAGAAACCTGTTTAAAAACATTCCTTTTGTCCTTCTGTTGATCACT c.1020
Y K K S I R N L F K N I P F V L L L I T p.340
| 04 . . . . . . g.30172
TATG | GTATCATGACTGGTGCCTTTTATTCAGTCTCAACGTTATTAAATCAAATGATATTG c.1080
Y G | I M T G A F Y S V S T L L N Q M I L p.360
. | 05 . . . . . g.32086
ACATATTATGAG | GGAGAAGAAGTCAATGCTGGAAGGATTGGGCTAACGCTAGTAGTAGCT c.1140
T Y Y E | G E E V N A G R I G L T L V V A p.380
. . . . . | 06 . g.34640
GGAATGGTGGGCTCTATTCTTTGTGGCTTATGGCTGGATTATACTAAAACATACAA | ACAG c.1200
G M V G S I L C G L W L D Y T K T Y K | Q p.400
. . . . . . g.34700
ACTACTCTGATAGTTTATATTTTGTCTTTTATTGGAATGGTTATCTTTACTTTCACATTG c.1260
T T L I V Y I L S F I G M V I F T F T L p.420
. . . . | 07. . g.35247
GACCTTAGATATATTATCATCGTGTTTGTTACTGGAGGGGTGCTTGG | CTTCTTCATGACT c.1320
D L R Y I I I V F V T G G V L G | F F M T p.440
. . . . . . g.35307
GGTTACCTCCCTTTGGGTTTTGAATTTGCTGTTGAAATCACTTACCCTGAATCTGAAGGT c.1380
G Y L P L G F E F A V E I T Y P E S E G p.460
. . . | 08 . . . g.35918
ACTTCATCTGGTCTTCTTAATGCTTCTGCACAG | ATATTTGGAATTTTGTTCACATTGGCT c.1440
T S S G L L N A S A Q | I F G I L F T L A p.480
. . . . . . g.35978
CAAGGAAAGCTCACATCAGACTATGGTCCTAAGGCAGGGAACATTTTTCTCTGTGTCTGG c.1500
Q G K L T S D Y G P K A G N I F L C V W p.500
. . | 09 . . . . g.41766
ATGTTTATAGGCATCATATTAACAG | CATTAATCAAGTCTGATCTGCGAAGACACAACATA c.1560
M F I G I I L T A | L I K S D L R R H N I p.520
. . . | 10 . . . g.41988
AATATAGGAATTACAAATGTTGATGTTAAAGCT | ATACCAGCTGACAGTCCCACAGACCAA c.1620
N I G I T N V D V K A | I P A D S P T D Q p.540
. . . . g.42036
GAACCAAAAACGGTTATGTTGTCCAAGCAGTCAGAATCAGCAATTTGA c.1668
E P K T V M L S K Q S E S A I X p.555
. . . . . . g.42096
agagaaaggcaaagttactgtcctgtagtaattggggacaatgtgatcatccttggagag c.*60
. . . . . . g.42156
agatgtgagcaccaaggctgggtttgtatgtggtgggggaataaacacacttacttgaaa c.*120
. . . . . . g.42216
attaccatatgaactctaaatgcataattattattttgcttaattgttaaattaagggaa c.*180
. . . . . . g.42276
attttcttaaaattcttctgtttacatcatgttaacactactgtttatctaattagtatc c.*240
. . . . . . g.42336
cggtttttagtctcatattgtatctgaaagtaagcttcttgacgtttactttttaaaagt c.*300
. . . . . . g.42396
cgatgtttttcttttttgtagaaaatggaagcttagaatactttttaaagtgataatatg c.*360
. . . . . . g.42456
gggtgttcagtccccataagatataatagttcatgcagtttatatattaaagtatccagt c.*420
. . . . . . g.42516
ggaactaaatgtacaatatattcctaattggctgcctttttcactgtgctgaccagctgt c.*480
. . . . . . g.42576
tcaagccacttcagtttgagtacaacataccaacatgacactactcacccacaaaggaca c.*540
. . . . . . g.42636
gcattgggatcaggctttcagatgacctctaagatttttcccatttattgtactcttgtt c.*600
. . . . . . g.42696
acaaagtactttttaacacatgcagtcaatggctataaaaactattctgtgtacagattc c.*660
. . . . . . g.42756
tacccagactttggtcttagaattatgttctaattaaggagcctggttacaggttcattc c.*720
. . . . . . g.42816
tgtcttgagttcttttctgtgctgcctttctatcatggataaatgctaacgctgtatttt c.*780
. . . . . . g.42876
ttcactccaacttgagatagagtagttttgtacccattgccttttttttcttttaaactc c.*840
. . . . . . g.42936
tctttttttttttttcctgatgtgtaactttctagtaagataatttcatcatgtatgtta c.*900
. . . . . . g.42996
ctggctatttcatgatttcatgtatcacatcgtatattttgccttgaagattcctgaaat c.*960
. . . . . . g.43056
aaggaaatctataataacttcagatagcctacatgtccccatttagtggagacctcttga c.*1020
. . . . . . g.43116
atgctatttgaattctgcagtatcatttttatgaccattctcctttgaggaatactatgc c.*1080
. . . . . . g.43176
ccaggtacatgctctatcagtgtgccgggagagtggattcttttcttcactgcagagtca c.*1140
. . . . . . g.43236
tcacactgttagaatagtctgctcttttacatgctcaggtagggaaaataggaccaaata c.*1200
. . . . . . g.43296
tatttccacagtgcctaccactgtgtcatgtttacagtgagagtttaaatattgttgatg c.*1260
. . . . . . g.43356
tcctgactctgtgagctcatagggagtatcttcatagtaatgacatttgatcagccataa c.*1320
. . . . . . g.43416
aatttacattatgttcatatgcacccaaaaaagctagtcaggtaatgaatacccttgaag c.*1380
. . . . . . g.43476
tgaatagcaattttgatttaggcagtgtgttaggccatccttgcattgctataaagaaat c.*1440
. . . . . . g.43536
atttaggctgggcgtggtggctcacgcctgtaatcccagcactttgggaggctgaagcgt c.*1500
. . . . . . g.43596
gtggatcacctgaggtcaggagttcaagaccagcctggccaacatggtaaaaccccatct c.*1560
. . . . . . g.43656
ctactaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaaggccaggcgcagtgctgtggct c.*1620
. . . . . . g.43716
catgcctgtaatctcagcactttgggaggccaaggcaggtggatcacaaagtcaggagtt c.*1680
. . . . . . g.43776
caaaaccagcctggccaagatggtgaaaccccatctctactaaaaatacaaaaattagcg c.*1740
. . . . . . g.43836
cagtggcaggcgcctgtaatcccagctactcaggaggctgaggcaggagaatcgcttgaa c.*1800
. . . . . . g.43896
tgcgaatggcagaggttgcagtgagcgaaaatcacactactgcactccagcctgggagat c.*1860
. . . . . . g.43956
aaagtgagactgtctcaaataaataaataaataaataaataaataaataaataaataaat c.*1920
. . . . . . g.44016
aaaacctgaggttgagcacgatggctcacacctatagtcccagcactttgggaggctgag c.*1980
. . . . . . g.44076
gtgggtggatcatttgaggccaggagttgaagaccagtctggccaacatggcaaaacccc c.*2040
. . . . . . g.44136
atctctactaaaaatacatacacacacacacacacacacaaattagccgggcatggtggc c.*2100
. . . . . . g.44196
acacgcctgtagtcccagcttcttgggaagctgaggcatgagaattgcctgaacctggaa c.*2160
. . . . . . g.44256
ggcggaggctacagtgagctgagattgcgccactgcactccagcctgggtgacagagcga c.*2220
. . . . . . g.44316
gactctgtttcaggaaaaaaagaacagaaatacctgagactgggtaatttataaataaaa c.*2280
. . . . . . g.44376
gaggtttaagtggctcacagttctgcaggctgtgtaagcatggcaccagtgtctgctcgg c.*2340
. . . . . . g.44436
cttctggggagccctcagggagctttactcatggtgaaaggctaagtgggagcagagatg c.*2400
. . . . . . g.44496
tcacatggcgaagcaggagcaagagagcagggaggtgccacacaccttcaaacaaccaga c.*2460
. . . . . . g.44556
ttttgtgaaaactcactcattactgcaaggacagcaccaagccatgagggatccacccgc c.*2520
. . . . . . g.44616
aggacccaaacaccttctattagggccaaccttcaacattggggattacatttcaatgtg c.*2580
. . . . . . g.44676
agattggagggacaagtatcccaactatatcaggcagaatatatgcattgatatatattg c.*2640
. . . . . . g.44736
aaattataacattctctataatcaagtgactgtaaattatgtcgaatctgaccctgggga c.*2700
. . . . . . g.44796
atgtgttatctaaagaatttgactaagaatcaggaactctgtgtccatgtcctggatgta c.*2760
. . . . . . g.44856
tttctgtatgttcctataactctggacaaatcattaaacctctctgggcagcgttttcct c.*2820
. . . . . . g.44916
catccatgaaatgaatgtgttcaatttgatctcaaagatctttccaaaatattaaatgcc c.*2880
. . . . . . g.44976
attaatcatggaatagaccaaattattgtatcacaggaacttgaatccagccagagaaaa c.*2940
. . . . . . g.45036
attccctggacaattggataaacaaatgtgattgctaccttatggatacaacggactttt c.*3000
. . . . . . g.45096
acatttctttttagcctttttagtcagttgagggtaactcaagcagagtatgtccaatca c.*3060
. . . . . . g.45156
ttagcttcctttgatatttacattacaggtaaaaacggccaaaaatatattttaaggtct c.*3120
. . . . . . g.45216
ctccccaaatgtttttatttttaaactatcaatgttgtttaaaataatcatgtacttgtt c.*3180
. . . . . . g.45276
gagttcctgaggtttggaacaaattacacataaaatttagaatactttatttctgaaaag c.*3240
. . . . . . g.45336
catatacatatatgttatgtttatttttccttgttgattagaaaggtgatggaatatgtg c.*3300
. . . . . . g.45396
acaatgcaaaatgaattgataatttttctgtattttgagtgaaagttgtctgtaatatgt c.*3360
. . . . . . g.45456
caagcaagaatgttataattctacagtaatgtgtgacttcatgacagagctacattctga c.*3420
. . . . . . g.45516
gaaatttgtcattaggtgatttcatcattgtgtgaacatcatgaagtgtacttacacaaa c.*3480
. . . . . . g.45576
cctaggtggtagagcctactgcacacctgggctagatggcaaagtctgtcgcttctgggc c.*3540
. . . . . . g.45636
tacagacctgtacagcatggtactgtattgaatactgtaggcaactgtaacacaatggta c.*3600
. . . . . . g.45696
tctgtgtaatctaaacatagaacagataatacattgtgctacaatgtaacaatggctgtg c.*3660
. . . . . . g.45756
gcatcactaggtgataggaatttttcagttccattataatcttataggatctctgtcata c.*3720
. . . . . . g.45816
tgtggtcaattgttgatcgaaacatgactgtatgtcgtattttcagaaaatggaataggt c.*3780
. . . . . . g.45876
aatcatcacttgtgtgaattttaatcaaatgacttaggaaagaaactggatgtttcaaaa c.*3840
. . . . . . g.45936
gctgttgcatttattacaaatgtcacaaatacagctcttgccttttgagaatgttggaga c.*3900
. . . . . . g.45996
gatgtctttaaaaaatatgtttgtgtgtaaaaatgtgtctgtatgcaatagctagaaaaa c.*3960
. . . . . . g.46056
tgcctgtgtcttaagtcattactcatgttctaatttttgttctttgtactatttatctgt c.*4020
. . . . . g.46109
atgcttgttcttcagtatttcagactcaaaataaatttatttttttatgttaa c.*4073
(downstream sequence)
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