(used for variant description)
(last modified August 30, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_002299.2 in the LCT gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering LCT transcript NM_002299.2.
(upstream sequence)
. g.5011
gttcctagaaa c.-1
. . . . . . g.5071
ATGGAGCTGTCTTGGCATGTAGTCTTTATTGCCCTGCTAAGTTTTTCATGCTGGGGGTCA c.60
M E L S W H V V F I A L L S F S C W G S p.20
. . . . . . g.5131
GACTGGGAGTCTGATAGAAATTTCATTTCCACCGCTGGTCCTCTAACCAATGACTTGCTG c.120
D W E S D R N F I S T A G P L T N D L L p.40
. . . . . . g.5191
CACAACCTGAGTGGTCTCCTGGGAGACCAGAGTTCTAACTTTGTAGCAGGGGACAAAGAC c.180
H N L S G L L G D Q S S N F V A G D K D p.60
. . . . . . g.5251
ATGTATGTTTGTCACCAGCCACTGCCCACTTTCCTGCCAGAATACTTCAGCAGTCTCCAT c.240
M Y V C H Q P L P T F L P E Y F S S L H p.80
. . . . . . g.5311
GCCAGTCAGATCACCCATTATAAGGTATTTCTGTCATGGGCACAGCTCCTCCCAGCAGGA c.300
A S Q I T H Y K V F L S W A Q L L P A G p.100
. . . . . . g.5371
AGCACCCAGAATCCAGACGAGAAAACAGTGCAGTGCTACCGGCGACTCCTCAAGGCCCTC c.360
S T Q N P D E K T V Q C Y R R L L K A L p.120
. . . . . . g.5431
AAGACTGCACGGCTTCAGCCCATGGTCATCCTGCACCACCAGACCCTCCCTGCCAGCACC c.420
K T A R L Q P M V I L H H Q T L P A S T p.140
. . . . . . g.5491
CTCCGGAGAACCGAAGCCTTTGCTGACCTCTTCGCCGACTATGCCACATTCGCCTTCCAC c.480
L R R T E A F A D L F A D Y A T F A F H p.160
. . . . . . g.5551
TCCTTCGGGGACCTAGTTGGGATCTGGTTCACCTTCAGTGACTTGGAGGAAGTGATCAAG c.540
S F G D L V G I W F T F S D L E E V I K p.180
. . . . . . g.5611
GAGCTTCCCCACCAGGAATCAAGAGCGTCACAACTCCAGACCCTCAGTGATGCCCACAGA c.600
E L P H Q E S R A S Q L Q T L S D A H R p.200
. . . . | 02 . . g.9010
AAAGCCTATGAGATTTACCACGAAAGCTATGCTTTTCAGG | GCGGAAAACTCTCTGTTGTC c.660
K A Y E I Y H E S Y A F Q G | G K L S V V p.220
. . . . . . g.9070
CTGCGAGCTGAAGATATCCCGGAGCTCCTGCTAGAACCACCCATATCTGCGCTTGCCCAG c.720
L R A E D I P E L L L E P P I S A L A Q p.240
| 03 . . . . . . g.12564
| GACACGGTCGATTTCCTCTCTCTTGATTTGTCTTATGAATGCCAAAATGAGGCAAGTCTG c.780
| D T V D F L S L D L S Y E C Q N E A S L p.260
. . | 04 . . . . g.18213
CGGCAGAAGCTGAGTAAATTGCAG | ACCATTGAGCCAAAAGTGAAAGTTTTCATCTTCAAC c.840
R Q K L S K L Q | T I E P K V K V F I F N p.280
. . . . . . g.18273
CTAAAACTCCCAGACTGCCCCTCCACCATGAAGAACCCAGCCAGTCTGCTCTTCAGCCTT c.900
L K L P D C P S T M K N P A S L L F S L p.300
| 05. . . . . . g.20135
TTTGAAG | CCATAAATAAAGACCAAGTGCTCACCATTGGGTTTGATATTAATGAGTTTCTG c.960
F E A | I N K D Q V L T I G F D I N E F L p.320
. . | 06 . . . . g.24153
AGTTGTTCATCAAGTTCCAAGAAAAG | CATGTCTTGTTCTCTGACTGGCAGCCTGGCCCTT c.1020
S C S S S S K K S | M S C S L T G S L A L p.340
. . . . . . g.24213
CAGCCTGACCAGCAGCAGGACCACGAGACCACGGACTCCTCTCCTGCCTCTGCCTATCAG c.1080
Q P D Q Q Q D H E T T D S S P A S A Y Q p.360
. . . . . . g.24273
AGAATCTGGGAAGCATTTGCCAATCAGTCCAGGGCGGAAAGGGATGCCTTCCTGCAGGAT c.1140
R I W E A F A N Q S R A E R D A F L Q D p.380
. . . . . . g.24333
ACTTTCCCTGAAGGCTTCCTCTGGGGTGCCTCCACAGGAGCCTTTAACGTGGAAGGAGGC c.1200
T F P E G F L W G A S T G A F N V E G G p.400
. . . . . . g.24393
TGGGCCGAGGGTGGGAGAGGGGTGAGCATCTGGGATCCACGCAGGCCCCTGAACACCACT c.1260
W A E G G R G V S I W D P R R P L N T T p.420
. . . . . . g.24453
GAGGGCCAAGCGACGCTGGAGGTGGCCAGCGACAGTTACCACAAGGTAGCCTCTGACGTC c.1320
E G Q A T L E V A S D S Y H K V A S D V p.440
. . . . . . g.24513
GCCCTGCTTTGCGGCCTCCGGGCTCAGGTGTACAAGTTCTCCATCTCCTGGTCCCGGATC c.1380
A L L C G L R A Q V Y K F S I S W S R I p.460
. . . . . . g.24573
TTCCCCATGGGGCACGGGAGCAGCCCCAGCCTCCCAGGCGTTGCCTACTACAACAAGCTG c.1440
F P M G H G S S P S L P G V A Y Y N K L p.480
. . . . . . g.24633
ATTGACAGGCTACAGGATGCGGGCATCGAGCCCATGGCCACGCTGTTCCACTGGGACCTG c.1500
I D R L Q D A G I E P M A T L F H W D L p.500
. . . . . . g.24693
CCTCAGGCCCTGCAGGATCATGGTGGATGGCAGAATGAGAGCGTGGTGGATGCCTTCCTG c.1560
P Q A L Q D H G G W Q N E S V V D A F L p.520
. . . . . . g.24753
GACTATGCGGCCTTCTGCTTCTCCACATTTGGGGACCGTGTGAAGCTGTGGGTGACCTTC c.1620
D Y A A F C F S T F G D R V K L W V T F p.540
. . . . . . g.24813
CATGAGCCGTGGGTGATGAGCTACGCAGGCTATGGCACCGGCCAGCACCCTCCCGGCATC c.1680
H E P W V M S Y A G Y G T G Q H P P G I p.560
. . | 07. . . . g.29257
TCTGACCCAGGAGTGGCCTCTTTTAAG | GTGGCTCACTTGGTCCTCAAGGCTCATGCCAGA c.1740
S D P G V A S F K | V A H L V L K A H A R p.580
. . . . . . g.29317
ACTTGGCACCACTACAACAGCCATCATCGCCCACAGCAGCAGGGGCACGTGGGCATTGTG c.1800
T W H H Y N S H H R P Q Q Q G H V G I V p.600
. . . . . . g.29377
CTGAACTCAGACTGGGCAGAACCCCTGTCTCCAGAGAGGCCTGAGGACCTGAGAGCCTCT c.1860
L N S D W A E P L S P E R P E D L R A S p.620
. . . . . . g.29437
GAGCGCTTCTTGCACTTCATGCTGGGCTGGTTTGCACACCCCGTCTTTGTGGATGGAGAC c.1920
E R F L H F M L G W F A H P V F V D G D p.640
. . . . . . g.29497
TACCCAGCCACCCTGAGGACCCAGATCCAACAGATGAACAGACAGTGCTCCCATCCTGTG c.1980
Y P A T L R T Q I Q Q M N R Q C S H P V p.660
. . . . . . g.29557
GCTCAACTCCCCGAGTTCACAGAGGCAGAGAAGCAGCTCCTGAAAGGCTCTGCTGATTTT c.2040
A Q L P E F T E A E K Q L L K G S A D F p.680
. . . . . . g.29617
CTGGGTCTGTCGCATTACACCTCCCGCCTCATCAGCAACGCCCCACAAAACACCTGCATC c.2100
L G L S H Y T S R L I S N A P Q N T C I p.700
. . . . . . g.29677
CCTAGCTATGATACCATTGGAGGCTTCTCCCAACACGTGAACCATGTGTGGCCCCAGACC c.2160
P S Y D T I G G F S Q H V N H V W P Q T p.720
. . . . . . g.29737
TCATCCTCTTGGATTCGTGTGGTGCCCTGGGGGATAAGGAGGCTGTTGCAGTTTGTATCC c.2220
S S S W I R V V P W G I R R L L Q F V S p.740
. . . . . . g.29797
CTGGAATACACAAGAGGAAAAGTTCCAATATACCTTGCCGGGAATGGCATGCCCATAGGG c.2280
L E Y T R G K V P I Y L A G N G M P I G p.760
. . . . . . g.29857
GAAAGTGAAAATCTCTTTGATGATTCCTTAAGAGTAGACTACTTCAATCAATATATCAAT c.2340
E S E N L F D D S L R V D Y F N Q Y I N p.780
. | 08 . . . . . g.32234
GAGGTGCTCAAGG | CTATCAAGGAAGACTCTGTGGATGTTCGTTCCTACATTGCTCGTTCC c.2400
E V L K A | I K E D S V D V R S Y I A R S p.800
. . . . . . g.32294
CTCATTGATGGCTTCGAAGGCCCTTCTGGTTACAGCCAGCGGTTTGGCCTGCACCACGTC c.2460
L I D G F E G P S G Y S Q R F G L H H V p.820
. . . . . . g.32354
AACTTCAGCGACAGCAGCAAGTCAAGGACTCCCAGGAAATCTGCCTACTTTTTCACTAGC c.2520
N F S D S S K S R T P R K S A Y F F T S p.840
. . . . . . g.32414
ATCATAGAAAAGAACGGTTTCCTCACCAAGGGGGCAAAAAGACTGCTACCACCTAATACA c.2580
I I E K N G F L T K G A K R L L P P N T p.860
. . . . . . g.32474
GTAAACCTCCCCTCCAAAGTCAGAGCCTTCACTTTTCCATCTGAGGTGCCCTCCAAGGCT c.2640
V N L P S K V R A F T F P S E V P S K A p.880
. . . . . . g.32534
AAAGTCGTTTGGGAAAAGTTCTCCAGCCAACCCAAGTTCGAAAGAGATTTGTTCTACCAC c.2700
K V V W E K F S S Q P K F E R D L F Y H p.900
. . . . . . g.32594
GGGACGTTTCGGGATGACTTTCTGTGGGGCGTGTCCTCTTCCGCTTATCAGATTGAAGGC c.2760
G T F R D D F L W G V S S S A Y Q I E G p.920
. . . . . . g.32654
GCGTGGGATGCCGATGGCAAAGGCCCCAGCATCTGGGATAACTTTACCCACACACCAGGG c.2820
A W D A D G K G P S I W D N F T H T P G p.940
. . . . . . g.32714
AGCAATGTGAAAGACAATGCCACTGGAGACATCGCCTGTGACAGCTATCACCAGCTGGAT c.2880
S N V K D N A T G D I A C D S Y H Q L D p.960
. . . . . . g.32774
GCCGATCTGAATATGCTCCGAGCTTTGAAGGTGAAGGCCTACCGCTTCTCTATCTCCTGG c.2940
A D L N M L R A L K V K A Y R F S I S W p.980
. . . . . . g.32834
TCTCGGATTTTCCCAACTGGGAGAAACAGCTCTATCAACAGTCATGGGGTTGATTATTAC c.3000
S R I F P T G R N S S I N S H G V D Y Y p.1000
. . . . . . g.32894
AACAGGCTGATCAATGGCTTGGTGGCAAGCAACATCTTTCCCATGGTGACATTGTTCCAT c.3060
N R L I N G L V A S N I F P M V T L F H p.1020
. . . . . . g.32954
TGGGACCTGCCCCAGGCCCTCCAGGATATCGGAGGCTGGGAGAATCCTGCCTTGATTGAC c.3120
W D L P Q A L Q D I G G W E N P A L I D p.1040
. . . . . . g.33014
TTGTTTGACAGCTACGCAGACTTTTGTTTCCAGACCTTTGGTGATAGAGTCAAGTTTTGG c.3180
L F D S Y A D F C F Q T F G D R V K F W p.1060
. . . . . . g.33074
ATGACTTTTAATGAGCCCATGTACCTGGCATGGCTAGGTTATGGCTCAGGGGAATTTCCC c.3240
M T F N E P M Y L A W L G Y G S G E F P p.1080
. . . . . . g.33134
CCAGGGGTGAAGGACCCAGGCTGGGCACCATATAGGATAGCCCACGCCGTCATCAAAGCC c.3300
P G V K D P G W A P Y R I A H A V I K A p.1100
. . . . . . g.33194
CATGCCAGAGTCTATCACACGTACGATGAGAAATACAGGCAGGAGCAGAAGGGGGTCATC c.3360
H A R V Y H T Y D E K Y R Q E Q K G V I p.1120
. . . . . . g.33254
TCGCTGAGCCTCAGTACACACTGGGCAGAGCCCAAGTCACCAGGGGTCCCCAGAGATGTG c.3420
S L S L S T H W A E P K S P G V P R D V p.1140
. . . . . . g.33314
GAAGCCGCTGACCGAATGCTGCAGTTCTCCCTGGGCTGGTTTGCTCACCCCATTTTTAGA c.3480
E A A D R M L Q F S L G W F A H P I F R p.1160
. . . . . . g.33374
AACGGAGACTATCCTGACACCATGAAGTGGAAAGTGGGGAACAGGAGTGAACTGCAGCAC c.3540
N G D Y P D T M K W K V G N R S E L Q H p.1180
. . . . . . g.33434
TTAGCCACCTCCCGCCTGCCAAGCTTCACTGAGGAAGAGAAGAGGTTCATCAGGGCGACG c.3600
L A T S R L P S F T E E E K R F I R A T p.1200
. . . . . . g.33494
GCCGACGTCTTCTGCCTCAACACGTACTACTCCAGAATCGTGCAGCACAAAACACCCAGG c.3660
A D V F C L N T Y Y S R I V Q H K T P R p.1220
. . . . . . g.33554
CTAAACCCACCCTCCTACGAAGACGACCAGGAGATGGCTGAGGAGGAGGACCCTTCGTGG c.3720
L N P P S Y E D D Q E M A E E E D P S W p.1240
. . . . . . g.33614
CCTTCCACGGCAATGAACAGAGCTGCGCCCTGGGGGACGCGAAGGCTGCTGAACTGGATC c.3780
P S T A M N R A A P W G T R R L L N W I p.1260
. . . . . . g.33674
AAGGAAGAGTATGGTGACATCCCCATTTACATCACCGAAAACGGAGTGGGGCTGACCAAT c.3840
K E E Y G D I P I Y I T E N G V G L T N p.1280
. . . . . . g.33734
CCGAACACGGAGGATACTGATAGGATATTTTACCACAAAACCTACATCAATGAGGCTTTG c.3900
P N T E D T D R I F Y H K T Y I N E A L p.1300
| 09 . . . . . . g.34840
AAAG | CCTACAGGCTCGATGGTATAGACCTTCGAGGGTATGTCGCCTGGTCTCTGATGGAC c.3960
K A | Y R L D G I D L R G Y V A W S L M D p.1320
. . . . . . g.34900
AACTTTGAGTGGCTAAATGGCTACACGGTCAAGTTTGGACTGTACCATGTTGATTTCAAC c.4020
N F E W L N G Y T V K F G L Y H V D F N p.1340
. . . . . . g.34960
AACACGAACAGGCCTCGCACAGCAAGAGCCTCCGCCAGGTACTACACAGAGGTCATTACC c.4080
N T N R P R T A R A S A R Y Y T E V I T p.1360
. . . . . . g.35020
AACAACGGCATGCCACTGGCCAGGGAGGATGAGTTTCTGTACGGACGGTTTCCTGAGGGC c.4140
N N G M P L A R E D E F L Y G R F P E G p.1380
. . . | 10 . . . g.37150
TTCATCTGGAGTGCAGCTTCTGCTGCATATCAG | ATTGAAGGTGCGTGGAGAGCAGATGGC c.4200
F I W S A A S A A Y Q | I E G A W R A D G p.1400
. . . . . . g.37210
AAAGGACTCAGCATTTGGGACACGTTTTCTCACACACCACTGAGGGTTGAGAACGATGCC c.4260
K G L S I W D T F S H T P L R V E N D A p.1420
. . . . . . g.37270
ATTGGAGACGTGGCCTGTGACAGTTATCACAAGATTGCTGAGGATCTGGTCACCCTGCAG c.4320
I G D V A C D S Y H K I A E D L V T L Q p.1440
. . . . . . g.37330
AACCTGGGCGTGTCCCACTACCGTTTTTCCATCTCCTGGTCTCGCATCCTCCCTGATGGA c.4380
N L G V S H Y R F S I S W S R I L P D G p.1460
. . . . . . g.37390
ACCACCAGGTACATCAATGAAGCGGGCCTGAACTACTACGTGAGGCTCATCGATACACTG c.4440
T T R Y I N E A G L N Y Y V R L I D T L p.1480
. . | 11 . . . . g.38088
CTGGCCGCCAGCATCCAGCCCCAG | GTGACCATTTACCACTGGGACCTACCACAGACGCTC c.4500
L A A S I Q P Q | V T I Y H W D L P Q T L p.1500
. . . . . . g.38148
CAAGATGTAGGAGGCTGGGAGAATGAGACCATCGTGCAGCGGTTTAAGGAGTATGCAGAT c.4560
Q D V G G W E N E T I V Q R F K E Y A D p.1520
. . . . . . g.38208
GTGCTCTTCCAGAGGCTGGGAGACAAGGTGAAGTTTTGGATCACGCTGAATGAGCCCTTT c.4620
V L F Q R L G D K V K F W I T L N E P F p.1540
. . . . | 12 . . g.41388
GTCATTGCTTACCAGGGCTATGGCTACGGAACAGCAGCTCCAG | GAGTCTCCAATAGGCCT c.4680
V I A Y Q G Y G Y G T A A P G | V S N R P p.1560
. . . . . . g.41448
GGCACTGCCCCCTACATTGTTGGCCACAATCTAATAAAGGCTCATGCTGAGGCCTGGCAT c.4740
G T A P Y I V G H N L I K A H A E A W H p.1580
. . . . . . g.41508
CTGTACAACGATGTGTACCGCGCCAGTCAAGGTGGCGTGATTTCCATCACCATCAGCAGT c.4800
L Y N D V Y R A S Q G G V I S I T I S S p.1600
. . . . . . g.41568
GACTGGGCTGAACCCAGAGATCCCTCTAACCAGGAGGATGTGGAGGCAGCCAGGAGATAT c.4860
D W A E P R D P S N Q E D V E A A R R Y p.1620
| 13 . . . . . . g.44096
GTTCAG | TTCATGGGAGGCTGGTTTGCACATCCTATTTTCAAGAATGGAGATTACAATGAG c.4920
V Q | F M G G W F A H P I F K N G D Y N E p.1640
. . . . . | 14 . g.47409
GTGATGAAGACGCGGATCCGTGACAGGAGCTTGGCTGCAGGCCTCAACAAGTCTCG | GCTG c.4980
V M K T R I R D R S L A A G L N K S R | L p.1660
. . . . . . g.47469
CCAGAATTTACAGAGAGTGAGAAGAGGAGGATCAACGGCACCTATGACTTTTTTGGGTTC c.5040
P E F T E S E K R R I N G T Y D F F G F p.1680
. . . . . . g.47529
AATCACTACACCACTGTCCTCGCCTACAACCTCAACTATGCCACTGCCATCTCTTCTTTT c.5100
N H Y T T V L A Y N L N Y A T A I S S F p.1700
. | 15 . . . . . g.51348
GATGCAGACAG | AGGAGTTGCTTCCATCGCAGATCGCTCGTGGCCAGACTCTGGCTCCTTC c.5160
D A D R | G V A S I A D R S W P D S G S F p.1720
. . . . . . g.51408
TGGCTGAAGATGACGCCTTTTGGCTTCAGGAGGATCCTGAACTGGTTAAAGGAGGAATAC c.5220
W L K M T P F G F R R I L N W L K E E Y p.1740
. . . . . . g.51468
AATGACCCTCCAATTTATGTCACAGAGAATGGAGTGTCCCAGCGGGAAGAAACAGACCTC c.5280
N D P P I Y V T E N G V S Q R E E T D L p.1760
. . . . . | 16 . g.52387
AATGACACTGCAAGGATCTACTACCTTCGGACTTACATCAATGAGGCCCTCAAAG | CTGTG c.5340
N D T A R I Y Y L R T Y I N E A L K A | V p.1780
. . . . . . g.52447
CAGGACAAGGTGGACCTTCGAGGATACACAGTTTGGAGTGCGATGGACAATTTTGAGTGG c.5400
Q D K V D L R G Y T V W S A M D N F E W p.1800
. . . . . . g.52507
GCCACAGGCTTTTCAGAGAGATTTGGTCTGCATTTTGTGAACTACAGTGACCCTTCTCTG c.5460
A T G F S E R F G L H F V N Y S D P S L p.1820
. . . . . . g.52567
CCAAGGATCCCCAAAGCATCAGCGAAGTTCTACGCCTCTGTGGTCCGATGCAATGGCTTC c.5520
P R I P K A S A K F Y A S V V R C N G F p.1840
. . . . | 17 . . g.53653
CCTGACCCCGCTACAGGGCCTCACGCTTGTCTCCACCAGCCAG | ATGCTGGACCCACCATC c.5580
P D P A T G P H A C L H Q P D | A G P T I p.1860
. . . . . . g.53713
AGCCCCGTGAGACAGGAGGAGGTGCAGTTCCTGGGGCTAATGCTCGGCACCACAGAAGCA c.5640
S P V R Q E E V Q F L G L M L G T T E A p.1880
. . . . . . g.53773
CAGACAGCTTTGTACGTTCTCTTTTCTCTTGTGCTTCTTGGAGTCTGTGGCTTGGCATTT c.5700
Q T A L Y V L F S L V L L G V C G L A F p.1900
. . . . . . g.53833
CTGTCATACAAGTACTGCAAGCGCTCTAAGCAAGGGAAAACACAACGAAGCCAACAGGAA c.5760
L S Y K Y C K R S K Q G K T Q R S Q Q E p.1920
. . g.53857
TTGAGCCCGGTGTCTTCATTCTGA c.5784
L S P V S S F X p.1927
. . . . . . g.53917
tgagttaccacctcaagttctatgaagcaggcctagtttcttcatctatgtttaccggcc c.*60
. . . . . . g.53977
accaaacaccttagggtcttagactctgctgatactggacttctccataaagtcctgctg c.*120
. . . . . . g.54037
caccgttagagatgactttaatcttgaatgatttcgacttgctgagtaaaatggaaatat c.*180
. . . . . . g.54097
ctccatcttgctccagtatcagagttcatttgggcatttgagaagcaagtagctcttgcg c.*240
. . . . . . g.54157
gaaacgtgtagatactggtctagtgggtctgtgaaccacttaattgaacttaacagggct c.*300
. . . . . . g.54217
gttttaagtttcagagttgttaagggttgttaagggagcaaaaaccgtaaaaatccttcc c.*360
. . . . . . g.54277
tataagaagaaatcaactccattgcatagactgcaatatcatctcctgcccttctgcaag c.*420
. . . . . g.54336
ctctccctagcttcacatcttgtgttttccagaaaataaaaacagcagactgtcctttc c.*479
(downstream sequence)
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