(used for variant description)
(last modified September 7, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_032532.2 in the FNDC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering FNDC1 transcript NM_032532.2.
(upstream sequence)
. . g.5020
ctcagtggcggagcgcggct c.-181
. . . . . . g.5080
gccggtgtgcggccgggagcgatcgccgcggggcaggggcgcggcgggcaccgcgcagag c.-121
. . . . . . g.5140
cgcgcagaacagacggacggcggcggggacccgacggcggcgcctcggcactccccagac c.-61
. . . . . . g.5200
tccggccagcgcccccctgccagccgcaagcacccagccccggcccaccccgggctctcg c.-1
. . . . . . g.5260
ATGGCCCCCGAGGCCGGGGCGACCCTGCGCGCGCCGCGCCGGCTGTCCTGGGCGGCGCTG c.60
M A P E A G A T L R A P R R L S W A A L p.20
. . . . | 02 . g.33045
CTGCTCTTGGCCGCGCTGCTCCCCGTCGCCTCCTCGGCGGCGGCCTCAG | TTGACCACCCA c.120
L L L A A L L P V A S S A A A S V | D H P p.40
. . . . . . g.33105
CTGAAGCCAAGGCATGTGAAACTGCTGTCCACTAAAATGGGCCTGAAAGTCACGTGGGAC c.180
L K P R H V K L L S T K M G L K V T W D p.60
. . . . . . g.33165
CCACCCAAAGATGCTACCAGTAGACCTGTGGAGCATTACAACATTGCCTATGGGAAGTCA c.240
P P K D A T S R P V E H Y N I A Y G K S p.80
. . . . . . g.33225
CTGAAAAGTCTTAAATACATCAAGGTGAATGCGGAGACATACTCCTTCCTTATTGAGGAT c.300
L K S L K Y I K V N A E T Y S F L I E D p.100
| 03 . . . . . . g.35655
GTGG | AGCCGGGGGTAGTGTACTTTGTGCTGCTTACTGCAGAAAACCACAGTGGAGTGAGC c.360
V E | P G V V Y F V L L T A E N H S G V S p.120
. . . | 04 . . . g.36145
CGTCCTGTTTACAGAGCTGAAAGCCCACCTG | GAGGTGAATGGATCGAGATTGATGGTTTT c.420
R P V Y R A E S P P G | G E W I E I D G F p.140
. . . . | 05 . . g.50568
CCCATTAAGGGTCCAGGACCATTTAATGAAACCGTCACAG | AAAAGGAAGTGCCCAACAAG c.480
P I K G P G P F N E T V T E | K E V P N K p.160
. . . . . . g.50628
CCCTTGCGTGTGCGTGTCCGGTCCTCAGATGACAGGCTGTCCGTTGCGTGGAAGGCACCA c.540
P L R V R V R S S D D R L S V A W K A P p.180
. . . . . . g.50688
CGCCTGTCTGGAGCCAAGAGTCCACGCAGATCACGGGGTTTTCTCCTGGGCTACGGGGAG c.600
R L S G A K S P R R S R G F L L G Y G E p.200
. . . . . . g.50748
AGTGGCCGGAAGATGAATTATGTTCCACTGACAAGAGATGAACGGACACACGAAATTAAA c.660
S G R K M N Y V P L T R D E R T H E I K p.220
| 06. . . . . . g.57254
AAGCTAG | CCTCGGAATCCGTGTATGTGGTCTCCCTGCAGTCCATGAACTCTCAGGGCCGG c.720
K L A | S E S V Y V V S L Q S M N S Q G R p.240
. . . . | 07 . . g.59145
AGCCAACCAGTCTACAGGGCTGCCCTAACAAAGCGAAAGATTTCAG | AAGAGGACGAATTG c.780
S Q P V Y R A A L T K R K I S E | E D E L p.260
. . . . . . g.59205
GATGTACCTGACGACATCAGCGTCCGGGTTATGTCATCTCAGTCTGTGCTTGTGTCCTGG c.840
D V P D D I S V R V M S S Q S V L V S W p.280
. . . . | 08 . . g.61154
GTGGATCCTGTTCTGGAAAAACAGAAGAAAGTTGTTGCATCAAG | ACAGTACACCGTGCGC c.900
V D P V L E K Q K K V V A S R | Q Y T V R p.300
. . . . . . g.61214
TATCGAGAGAAGGGGGAATTGGCCAGGTGGGATTATAAGCAGATCGCTAACAGGCGTGTG c.960
Y R E K G E L A R W D Y K Q I A N R R V p.320
. . . . . . g.61274
CTGATTGAGAACCTGATTCCAGACACTGTGTATGAATTTGCAGTCCGTATTTCACAGGGT c.1020
L I E N L I P D T V Y E F A V R I S Q G p.340
. . . . . | 09 . g.62084
GAAAGAGATGGCAAATGGAGTACGTCAGTCTTCCAAAGAACACCAGAATCTG | CCCCTACC c.1080
E R D G K W S T S V F Q R T P E S A | P T p.360
. . . . . . g.62144
ACAGCTCCTGAAAACTTGAACGTCTGGCCAGTCAATGGCAAACCTACAGTTGTCGCTGCA c.1140
T A P E N L N V W P V N G K P T V V A A p.380
. . . . | 10 . . g.65438
TCTTGGGATGCGCTACCAGAGACTGAGGGGAAAGTGAAAG | AATACATTCTTTCATACGCC c.1200
S W D A L P E T E G K V K E | Y I L S Y A p.400
. . . . . . g.65498
CCGGCTCTCAAACCATTTGGAGCAAAGTCCCTCACCTATCCTGGAGACACTACTTCTGCC c.1260
P A L K P F G A K S L T Y P G D T T S A p.420
. . . . . . g.65558
CTGGTGGATGGTCTGCAGCCTGGGGAACGCTATCTTTTCAAAATCCGGGCCACAAACAGG c.1320
L V D G L Q P G E R Y L F K I R A T N R p.440
. . . . | 11 . g.67496
AGAGGCCTGGGACCTCACTCCAAAGCCTTCATTGTCGCTATGCCAACAA | CCAGTAAGGCG c.1380
R G L G P H S K A F I V A M P T T | S K A p.460
. . . . . . g.67556
GATGTTGAGCAGAACACGGAGGACAATGGGAAACCCGAAAAACCTGAGCCTTCCTCACCT c.1440
D V E Q N T E D N G K P E K P E P S S P p.480
. . . . . . g.67616
TCTCCCAGAGCTCCAGCTTCCTCCCAACACCCCTCTGTGCCTGCTTCTCCCCAAGGGAGA c.1500
S P R A P A S S Q H P S V P A S P Q G R p.500
. . . . . . g.67676
AATGCCAAGGACCTTCTTCTTGACTTGAAGAACAAAATATTGGCTAATGGTGGGGCGCCC c.1560
N A K D L L L D L K N K I L A N G G A P p.520
. . . . . . g.67736
CGAAAACCCCAGCTTCGCGCCAAGAAGGCAGAGGAGCTGGATCTTCAGTCGACAGAAATC c.1620
R K P Q L R A K K A E E L D L Q S T E I p.540
. . . . . . g.67796
ACTGGGGAGGAGGAGCTGGGTTCCCGGGAGGACTCGCCCATGTCACCCTCAGACACCCAA c.1680
T G E E E L G S R E D S P M S P S D T Q p.560
. . . . . . g.67856
GACCAGAAACGGACCCTGAGGCCGCCAAGTAGACACGGCCACTCGGTGGTTGCTCCCGGC c.1740
D Q K R T L R P P S R H G H S V V A P G p.580
. . . . . . g.67916
AGGACTGCAGTGAGGGCCCGGATGCCAGCGCTGCCCCGAAGGGAAGGCGTAGATAAGCCT c.1800
R T A V R A R M P A L P R R E G V D K P p.600
. . . . . . g.67976
GGCTTTTCCCTGGCCACGCAGCCCCGCCCAGGGGCGCCCCCCTCGGCTTCGGCCTCTCCT c.1860
G F S L A T Q P R P G A P P S A S A S P p.620
. . . . . . g.68036
GCCCACCACGCGTCCACCCAGGGCACCTCTCATCGTCCTTCCCTGCCTGCCAGCTTGAAT c.1920
A H H A S T Q G T S H R P S L P A S L N p.640
. . . . . . g.68096
GACAACGACTTGGTGGACTCAGACGAAGATGAGCGCGCTGTGGGCTCCCTCCACCCCAAG c.1980
D N D L V D S D E D E R A V G S L H P K p.660
. . . . . . g.68156
GGCGCCTTCGCCCAGCCCCGGCCAGCCCTGTCCCCCAGCCGCCAGTCCCCGTCCAGCGTT c.2040
G A F A Q P R P A L S P S R Q S P S S V p.680
. . . . . . g.68216
CTCCGCGACAGAAGCTCTGTGCACCCCGGCGCAAAGCCAGCCTCGCCGGCCCGGAGGACC c.2100
L R D R S S V H P G A K P A S P A R R T p.700
. . . . . . g.68276
CCCCATTCAGGGGCCGCAGAGGAAGATTCCAGTGCCTCAGCCCCACCCTCAAGACTTTCT c.2160
P H S G A A E E D S S A S A P P S R L S p.720
. . . . . . g.68336
CCACCCCATGGGGGATCATCTCGGCTGCTGCCCACCCAGCCACACCTGAGCTCTCCACTT c.2220
P P H G G S S R L L P T Q P H L S S P L p.740
. . . . . . g.68396
TCCAAGGGCGGGAAGGATGGTGAGGACGCCCCAGCCACCAACTCCAATGCGCCATCACGG c.2280
S K G G K D G E D A P A T N S N A P S R p.760
. . . . . . g.68456
TCCACCATGTCCTCCTCCGTCTCTTCTCATCTCTCGTCCAGGACGCAGGTCTCTGAGGGA c.2340
S T M S S S V S S H L S S R T Q V S E G p.780
. . . . . . g.68516
GCGGAGGCTTCTGATGGTGAAAGCCACGGTGACGGCGATAGGGAAGACGGCGGAAGGCAG c.2400
A E A S D G E S H G D G D R E D G G R Q p.800
. . . . . . g.68576
GCGGAGGCCACGGCCCAGACGCTGCGGGCCCGGCCTGCCTCTGGACACTTCCATTTGCTC c.2460
A E A T A Q T L R A R P A S G H F H L L p.820
. . . . . . g.68636
AGACACAAACCCTTTGCTGCCAACGGGAGGTCTCCAAGCAGGTTCAGCATTGGGCGGGGA c.2520
R H K P F A A N G R S P S R F S I G R G p.840
. . . . . . g.68696
CCTCGGCTGCAGCCCTCCAGCTCCCCACAGTCGACTGTGCCCTCCCGAGCCCACCCCAGG c.2580
P R L Q P S S S P Q S T V P S R A H P R p.860
. . . . . . g.68756
GTTCCCTCTCACTCTGATTCCCACCCTAAGCTTAGCTCAGGTATCCATGGAGACGAGGAG c.2640
V P S H S D S H P K L S S G I H G D E E p.880
. . . . . . g.68816
GATGAGAAGCCGCTTCCTGCCACCGTTGTCAATGACCACGTGCCTTCCTCCTCCAGGCAG c.2700
D E K P L P A T V V N D H V P S S S R Q p.900
. . . . . . g.68876
CCCATCTCCCGGGGCTGGGAGGACTTAAGGAGAAGCCCGCAGAGAGGGGCCAGCCTGCAT c.2760
P I S R G W E D L R R S P Q R G A S L H p.920
. . . . . . g.68936
CGGAAGGAACCCATCCCAGAGAACCCCAAATCCACAGGGGCAGATACACATCCTCAGGGC c.2820
R K E P I P E N P K S T G A D T H P Q G p.940
. . . . . . g.68996
AAGTACTCCTCCCTGGCCTCCAAGGCTCAGGATGTTCAACAGAGCACAGACGCGGACACG c.2880
K Y S S L A S K A Q D V Q Q S T D A D T p.960
. . . . . . g.69056
GAGGGTCATTCTCCCAAAGCACAGCCAGGGTCCACAGACCGCCACGCGTCCCCTGCTCGT c.2940
E G H S P K A Q P G S T D R H A S P A R p.980
. . . . . . g.69116
CCGCCCGCAGCACGGTCACAGCAGCATCCCAGTGTTCCCAGAAGGATGACACCCGGCCGG c.3000
P P A A R S Q Q H P S V P R R M T P G R p.1000
. . . . . . g.69176
GCCCCACAACAGCAGCCCCCTCCTCCCGTCGCCACGTCCCAGCACCACCCGGGACCCCAG c.3060
A P Q Q Q P P P P V A T S Q H H P G P Q p.1020
. . . . . . g.69236
AGCAGAGACGCGGGTCGGTCACCTTCCCAGCCCAGGCTCTCACTGACCCAGGCCGGGCGG c.3120
S R D A G R S P S Q P R L S L T Q A G R p.1040
. . . . . . g.69296
CCCCGCCCCACGTCGCAGGGCCGCTCCCACTCCTCCTCGGACCCTTACACGGCGAGCTCC c.3180
P R P T S Q G R S H S S S D P Y T A S S p.1060
. . . . . . g.69356
AGAGGGATGCTCCCCACGGCCCTCCAGAACCAGGACGAGGATGCCCAGGGCAGCTACGAC c.3240
R G M L P T A L Q N Q D E D A Q G S Y D p.1080
. . . . . . g.69416
GACGACAGCACAGAAGTCGAGGCCCAGGATGTGCGGGCCCCCGCGCACGCCGCGCGCGCC c.3300
D D S T E V E A Q D V R A P A H A A R A p.1100
. . . . . . g.69476
AAGGAGGCAGCTGCGTCCCTTCCCAAGCACCAGCAGGTGGAGTCTCCCACAGGCGCAGGG c.3360
K E A A A S L P K H Q Q V E S P T G A G p.1120
. . . . . . g.69536
GCAGGTGGCGACCACAGGTCCCAGCGCGGACATGCGGCCTCCCCCGCCAGGCCCAGCCGA c.3420
A G G D H R S Q R G H A A S P A R P S R p.1140
. . . . . . g.69596
CCCGGCGGCCCCCAGTCCCGCGCCCGGGTACCCAGCAGGGCAGCGCCGGGGAAGTCGGAG c.3480
P G G P Q S R A R V P S R A A P G K S E p.1160
. . . . . . g.69656
CCTCCTTCCAAGCGGCCCCTGTCCTCCAAGTCCCAGCAGTCGGTCTCAGCCGAGGACGAC c.3540
P P S K R P L S S K S Q Q S V S A E D D p.1180
. . . . . . g.69716
GAGGAGGAGGACGCGGGATTTTTTAAAGGCGGGAAAGAAGACCTTCTGTCTTCCTCTGTG c.3600
E E E D A G F F K G G K E D L L S S S V p.1200
. . . . . . g.69776
CCAAAGTGGCCCTCTTCCTCCACTCCCAGGGGCGGCAAAGACGCCGATGGGAGCCTCGCC c.3660
P K W P S S S T P R G G K D A D G S L A p.1220
. . . . . . g.69836
AAGGAAGAGAGGGAGCCTGCCATCGCGCTTGCCCCTCGCGGAGGGAGCCTGGCTCCTGTG c.3720
K E E R E P A I A L A P R G G S L A P V p.1240
. . . . . . g.69896
AAGCGACCTCTCCCCCCACCTCCAGGCAGCTCCCCCAGGGCCTCCCACGTCCCTTCCCGA c.3780
K R P L P P P P G S S P R A S H V P S R p.1260
. . . . . . g.69956
CTGCCGCCTCGCAGCGCTGCCACCGTGAGCCCCGTCGCGGGCACCCACCCCTGGCCGCAG c.3840
L P P R S A A T V S P V A G T H P W P Q p.1280
. . . . . . g.70016
TACACCACGCGCGCCCCACCTGGCCACTTCTCCACCACCCCGATGCTGTCCTTGCGCCAG c.3900
Y T T R A P P G H F S T T P M L S L R Q p.1300
. . . . . . g.70076
AGGATGATGCATGCCAGATTCCGTAACCCTCTCTCCCGACAGCCTGCCAGACCCTCTTAC c.3960
R M M H A R F R N P L S R Q P A R P S Y p.1320
| 12. . . . . . g.71871
AGACAAG | GTTATAATGGCAGACCAAATGTAGAAGGGAAAGTCCTTCCTGGTAGTAATGGA c.4020
R Q G | Y N G R P N V E G K V L P G S N G p.1340
. . . . | 13 . g.74169
AAACCGAATGGACAGAGAATTATCAATGGCCCTCAAGGAACAAAGTGG | GTTGTGGACCTT c.4080
K P N G Q R I I N G P Q G T K W | V V D L p.1360
. . . . . . g.74229
GATCGTGGGTTAGTATTGAATGCAGAAGGAAGGTACCTCCAAGATTCACATGGAAATCCT c.4140
D R G L V L N A E G R Y L Q D S H G N P p.1380
. . . . | 14 . . g.75140
CTTCGGATTAAACTAGGAGGAGATGGTCGAACCATTGTAG | ATCTGGAAGGGACCCCCGTG c.4200
L R I K L G G D G R T I V D | L E G T P V p.1400
. . . . . . g.75200
GTGAGTCCTGACGGCCTCCCACTCTTTGGGCAGGGGCGACATGGCACACCTCTGGCCAAT c.4260
V S P D G L P L F G Q G R H G T P L A N p.1420
. . . . . . g.75260
GCCCAAGATAAGCCAATTTTGAGTCTTGGAGGAAAGCCGCTGGTGGGCTTGGAGGTCATC c.4320
A Q D K P I L S L G G K P L V G L E V I p.1440
. . . . . . g.75320
AAAAAAACCACCCATCCCCCTACCACTACCATGCAGCCCACCACTACTACGACGCCCCTG c.4380
K K T T H P P T T T M Q P T T T T T P L p.1460
. . . . . . g.75380
CCTACCACTACAACCCCGAGGCCCACCACTGCCACCACCCGCCGCACGACCACCACCCGC c.4440
P T T T T P R P T T A T T R R T T T T R p.1480
. . . . . . g.75440
CGCACGACCACCAGGCGTCCAACAACCACAGTCCGAACCACTACGCGGACAACCACCACC c.4500
R T T T R R P T T T V R T T T R T T T T p.1500
. . . . . . g.75500
ACCACCCCCACACCCACCACTCCCATCCCCACCTGTCCCCCTGGGACCTTGGAACGGCAC c.4560
T T P T P T T P I P T C P P G T L E R H p.1520
. . . . . . g.75560
GACGATGATGGCAACCTGATAATGAGCTCCAATGGGATCCCAGAGTGCTACGCTGAAGAA c.4620
D D D G N L I M S S N G I P E C Y A E E p.1540
| 15 . . . . . . g.82563
G | ATGAGTTCTCAGGCTTGGAGACTGACACTGCAGTACCTACGGAAGAGGCCTACGTTATA c.4680
D | E F S G L E T D T A V P T E E A Y V I p.1560
. | 16 . . . . . g.84692
TATGATGAAG | ATTATGAATTTGAGACGTCAAGGCCACCAACCACCACTGAGCCTTCGACC c.4740
Y D E D | Y E F E T S R P P T T T E P S T p.1580
. . . . . . g.84752
ACTGCTACCACACCGAGGGTGATCCCAGAGGAAGGCGCCATCAGTTCCTTTCCTGAAGAA c.4800
T A T T P R V I P E E G A I S S F P E E p.1600
. . . | 17 . . . g.86931
GAATTTGATCTGGCTGGAAGGAAACGATTTGTTG | CTCCTTACGTGACGTACCTAAATAAA c.4860
E F D L A G R K R F V A | P Y V T Y L N K p.1620
. . . . . . g.86991
GACCCATCAGCCCCGTGCTCTCTGACTGATGCACTGGATCACTTCCAAGTGGACAGCCTG c.4920
D P S A P C S L T D A L D H F Q V D S L p.1640
. . . . . . g.87051
GATGAAATCATCCCCAATGACCTGAAGAAGAGTGACCTGCCTCCCCAGCATGCTCCCCGC c.4980
D E I I P N D L K K S D L P P Q H A P R p.1660
. . . . . . g.87111
AACATCACCGTGGTGGCCGTGGAAGGTTGCCACTCATTTGTCATTGTGGACTGGGACAAA c.5040
N I T V V A V E G C H S F V I V D W D K p.1680
. . | 18 . . . . g.92161
GCCACCCCAGGAGATGTGGTCACAG | GTTACTTGGTTTACAGTGCATCCTATGAAGACTTC c.5100
A T P G D V V T G | Y L V Y S A S Y E D F p.1700
. . . . . . g.92221
ATCAGGAACAAGTGGTCCACTCAAGCTTCATCAGTAACTCACTTGCCCATTGAGAACCTA c.5160
I R N K W S T Q A S S V T H L P I E N L p.1720
. | 19 . . . . . g.96839
AAGCCCAACACGAG | GTATTATTTTAAAGTGCAAGCACAAAATCCTCATGGCTACGGACCT c.5220
K P N T R | Y Y F K V Q A Q N P H G Y G P p.1740
. . . | 20 . . . g.100604
ATCAGCCCTTCGGTCTCATTTGTCACCGAATCAG | ATAATCCTCTGCTTGTTGTGAGGCCC c.5280
I S P S V S F V T E S D | N P L L V V R P p.1760
| 21 . . . . . . g.101743
CCAG | GCGGTGAGCCTATCTGGATCCCATTCGCTTTCAAACATGATCCCAGCTACACGGAC c.5340
P G | G E P I W I P F A F K H D P S Y T D p.1780
. . . . . . g.101803
TGCCATGGACGGCAATATGTGAAGCGCACGTGGTATCGAAAGTTCGTGGGAGTTGTTCTT c.5400
C H G R Q Y V K R T W Y R K F V G V V L p.1800
. . . . | 22 . . g.103421
TGTAATTCACTGAGGTATAAAATCTACCTCAGTGACAACCTGAAAG | ATACATTCTACAGC c.5460
C N S L R Y K I Y L S D N L K D | T F Y S p.1820
. . . . . . g.103481
ATTGGAGACAGCTGGGGAAGAGGTGAAGACCATTGCCAATTTGTGGATTCACACCTTGAT c.5520
I G D S W G R G E D H C Q F V D S H L D p.1840
. . . . | 23 . g.106941
GGAAGAACAGGGCCTCAGTCCTATGTAGAAGCCCTCCCTACTATTCAAG | GCTACTATCGC c.5580
G R T G P Q S Y V E A L P T I Q G | Y Y R p.1860
. . . . . . g.107001
CAGTATCGTCAGGAGCCTGTCAGGTTTGGGAACATCGGCTTCGGAACCCCCTACTACTAT c.5640
Q Y R Q E P V R F G N I G F G T P Y Y Y p.1880
. . . . g.107046
GTGGGCTGGTACGAGTGTGGGGTCTCCATCCCTGGAAAGTGGTAA c.5685
V G W Y E C G V S I P G K W X p.1894
. . . . . . g.107106
tcacaggaccgtcatgctgcaagcttgccctgcccagccccaccaactaagtcgcactag c.*60
. . . . . . g.107166
gggctgtgagcaaagacagccagcgtgctcagccccgctgccctaggtgccaggaaggtc c.*120
. . . . . . g.107226
atagatggacactggccattctggtcatctcagtctggaactcagtcccacttcttggcc c.*180
. . . . . . g.107286
tggacaatgaacaggattcagttttgctgttaactttgcttctctacttttttttgtttg c.*240
. . . . . . g.107346
tttgtaatagcacatcccagagacatcagaaaccagcaactgattcagtgtgatttccag c.*300
. . . . . . g.107406
actttttaggcatgaaattcggacacttcagtatttccaggaatagcatatgcacgctgt c.*360
. . . . . . g.107466
tcttgcttcatggaatgctacatgctttctgtttttctcattttggatttctccaaaact c.*420
. . . . . . g.107526
aactgaatttaagcttcaggtccctttgtatgcagtagaaaggaattattaaaaacacca c.*480
. . . . . . g.107586
ccaaagaaaataaatatatcctacttgaaatttactctatggacttacccactgctagaa c.*540
. . . . . . g.107646
taaatgtatcaaatcttatttgtaaattctcaattttgatatatatatgtatatatgcat c.*600
. . . . . . g.107706
atacatatccacacttgtctgcaagaatattgattaaaattgctaaatttgtacttgttc c.*660
g.107712
accaga c.*666
(downstream sequence)
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