(used for variant description)
(last modified April 7, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_000425.4 in the L1CAM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering L1CAM transcript NM_000425.4.
(upstream sequence)
. . g.4928
ggggccaagagcccgggcttacccagatg c.-181
. . . . . . g.4988
ttagtcactaacgtccttccgttctctcgtctctcttcccccacccttcccttcccttct c.-121
. . . . . . g.5048
cccctctcccagtgcccccactcccaactcccgccccaagccgcccaccagcccccttcc c.-61
. . . . . . g.5108
cctccggccggagcctgaaccgagcccggctggctgtgctgcgcggtgccgccgggaaag c.-1
. . . . . . g.5168
ATGGTCGTGGCGCTGCGGTACGTGTGGCCTCTCCTCCTCTGCAGCCCCTGCCTGCTTATC c.60
M V V A L R Y V W P L L L C S P C L L I p.20
. | 02 . . | 03 . . . g.8276
CAGATCCCCGAGGAAT | ATGAAGGACACCATG | TGATGGAGCCACCTGTCATCACGGAACAG c.120
Q I P E E Y | E G H H V | M E P P V I T E Q p.40
. . . . . . g.8336
TCTCCACGGCGCCTGGTTGTCTTCCCCACAGATGACATCAGCCTCAAGTGTGAGGCCAGT c.180
S P R R L V V F P T D D I S L K C E A S p.60
. | 04. . . . . g.8633
GGCAAGCCCGAAGTGCA | GTTCCGCTGGACGAGGGATGGTGTCCACTTCAAACCCAAGGAA c.240
G K P E V Q | F R W T R D G V H F K P K E p.80
. . . . . . g.8693
GAGCTGGGTGTGACCGTGTACCAGTCGCCCCACTCTGGCTCCTTCACCATCACGGGCAAC c.300
E L G V T V Y Q S P H S G S F T I T G N p.100
. . . . . . g.8753
AACAGCAACTTTGCTCAGAGGTTCCAGGGCATCTACCGCTGCTTTGCCAGCAATAAGCTG c.360
N S N F A Q R F Q G I Y R C F A S N K L p.120
. . . . | 05 . . g.9785
GGCACCGCCATGTCCCATGAGATCCGGCTCATGGCCGAGG | GTGCCCCCAAGTGGCCAAAG c.420
G T A M S H E I R L M A E G | A P K W P K p.140
. . . . . . g.9845
GAGACAGTGAAGCCCGTGGAGGTGGAGGAAGGGGAGTCAGTGGTTCTGCCTTGCAACCCT c.480
E T V K P V E V E E G E S V V L P C N P p.160
. . . . | 06 . . g.10001
CCCCCAAGTGCAGAGCCTCTCCGGATCTACTGGATGAACAGCA | AGATCTTGCACATCAAG c.540
P P S A E P L R I Y W M N S K | I L H I K p.180
. . . . . . g.10061
CAGGACGAGCGGGTGACGATGGGCCAGAACGGCAACCTCTACTTTGCCAATGTGCTCACC c.600
Q D E R V T M G Q N G N L Y F A N V L T p.200
. . . . . . g.10121
TCCGACAACCACTCAGACTACATCTGCCACGCCCACTTCCCAGGCACCAGGACCATCATT c.660
S D N H S D Y I C H A H F P G T R T I I p.220
. . . | 07 . . . g.10471
CAGAAGGAACCCATTGACCTCCGGGTCAAGGCCA | CCAACAGCATGATTGACAGGAAGCCG c.720
Q K E P I D L R V K A T | N S M I D R K P p.240
. . . . . . g.10531
CGCCTGCTCTTCCCCACCAACTCCAGCAGCCACCTGGTGGCCTTGCAGGGGCAGCCATTG c.780
R L L F P T N S S S H L V A L Q G Q P L p.260
. . | 08 . . . . g.10738
GTCCTGGAGTGCATCGCCGAGGGCTT | TCCCACGCCCACCATCAAATGGCTGCGCCCCAGT c.840
V L E C I A E G F | P T P T I K W L R P S p.280
. . . . . . g.10798
GGCCCCATGCCAGCCGACCGTGTCACCTACCAGAACCACAACAAGACCCTGCAGCTGCTG c.900
G P M P A D R V T Y Q N H N K T L Q L L p.300
. . . . . . g.10858
AAAGTGGGCGAGGAGGATGATGGCGAGTACCGCTGCCTGGCCGAGAACTCACTGGGCAGT c.960
K V G E E D D G E Y R C L A E N S L G S p.320
. . . | 09 . . . g.11039
GCCCGGCATGCGTACTATGTCACCGTGGAGG | CTGCCCCGTACTGGCTGCACAAGCCCCAG c.1020
A R H A Y Y V T V E A | A P Y W L H K P Q p.340
. . . . . . g.11099
AGCCATCTATATGGGCCAGGAGAGACTGCCCGCCTGGACTGCCAAGTCCAGGGCAGGCCC c.1080
S H L Y G P G E T A R L D C Q V Q G R P p.360
. . . . | 10 . . g.11298
CAACCAGAGGTCACCTGGAGAATCAACGGGATCCCTGTGGAGG | AGCTGGCCAAAGACCAG c.1140
Q P E V T W R I N G I P V E E | L A K D Q p.380
. . . . . . g.11358
AAGTACCGGATTCAGCGTGGCGCCCTGATCCTGAGCAACGTGCAGCCCAGTGACACAATG c.1200
K Y R I Q R G A L I L S N V Q P S D T M p.400
. . . . . . g.11418
GTGACCCAATGTGAGGCCCGCAACCGGCACGGGCTCTTGCTGGCCAATGCCTACATCTAC c.1260
V T Q C E A R N R H G L L L A N A Y I Y p.420
| 11. . . . . . g.12045
GTTGTCC | AGCTGCCAGCCAAGATCCTGACTGCGGACAATCAGACGTACATGGCTGTCCAG c.1320
V V Q | L P A K I L T A D N Q T Y M A V Q p.440
. . . . . | 12 g.12218
GGCAGCACTGCCTACCTTCTGTGCAAGGCCTTCGGAGCGCCTGTGCCCAGTGTTCAGTG | G c.1380
G S T A Y L L C K A F G A P V P S V Q W | p.460
. . . . . . g.12278
CTGGACGAGGATGGGACAACAGTGCTTCAGGACGAACGCTTCTTCCCCTATGCCAATGGG c.1440
L D E D G T T V L Q D E R F F P Y A N G p.480
. . . . . . g.12338
ACCCTGGGCATTCGAGACCTCCAGGCCAATGACACCGGACGCTACTTCTGCCTGGCTGCC c.1500
T L G I R D L Q A N D T G R Y F C L A A p.500
. . . . | 13 . . g.12500
AATGACCAAAACAATGTTACCATCATGGCTAACCTGAAGGTTAAAG | ATGCAACTCAGATC c.1560
N D Q N N V T I M A N L K V K D | A T Q I p.520
. . . . . . g.12560
ACTCAGGGGCCCCGCAGCACAATCGAGAAGAAAGGTTCCAGGGTGACCTTCACGTGCCAG c.1620
T Q G P R S T I E K K G S R V T F T C Q p.540
. . . . . . g.12620
GCCTCCTTTGACCCCTCCTTGCAGCCCAGCATCACCTGGCGTGGGGACGGTCGAGACCTC c.1680
A S F D P S L Q P S I T W R G D G R D L p.560
. . | 14 . . . . g.12859
CAGGAGCTTGGGGACAGTGACAA | GTACTTCATAGAGGATGGGCGCCTGGTCATCCACAGC c.1740
Q E L G D S D K | Y F I E D G R L V I H S p.580
. . . . . . g.12919
CTGGACTACAGCGACCAGGGCAACTACAGCTGCGTGGCCAGTACCGAACTGGATGTGGTG c.1800
L D Y S D Q G N Y S C V A S T E L D V V p.600
. . | 15 . . . g.13066
GAGAGTAGGGCACAGCTCTTGGTGGTGG | GGAGCCCTGGGCCGGTGCCACGGCTGGTGCTG c.1860
E S R A Q L L V V G | S P G P V P R L V L p.620
. . . . . . g.13126
TCCGACCTGCACCTGCTGACGCAGAGCCAGGTGCGCGTGTCCTGGAGTCCTGCAGAAGAC c.1920
S D L H L L T Q S Q V R V S W S P A E D p.640
. | 16 . . . . g.13432
CACAATGCCCCCATTGAGA | AATATGACATTGAATTTGAGGACAAGGAAATGGCGCCTGAA c.1980
H N A P I E K | Y D I E F E D K E M A P E p.660
. . . . . . g.13492
AAATGGTACAGTCTGGGCAAGGTTCCAGGGAACCAGACCTCTACCACCCTCAAGCTGTCG c.2040
K W Y S L G K V P G N Q T S T T L K L S p.680
. . . . . . g.13552
CCCTATGTCCACTACACCTTTAGGGTTACTGCCATAAACAAATATGGCCCCGGGGAGCCC c.2100
P Y V H Y T F R V T A I N K Y G P G E P p.700
. . . | 17. . . g.13843
AGCCCGGTCTCTGAGACTGTGGTCACACCTGAGGCAG | CCCCAGAGAAGAACCCTGTGGAT c.2160
S P V S E T V V T P E A A | P E K N P V D p.720
. . . . | 18 . g.14085
GTGAAGGGGGAAGGAAATGAGACCACCAATATGGTCATCACGTGGAAG | CCGCTCCGGTGG c.2220
V K G E G N E T T N M V I T W K | P L R W p.740
. . . . . . g.14145
ATGGACTGGAACGCCCCCCAGGTTCAGTACCGCGTGCAGTGGCGCCCTCAGGGGACACGA c.2280
M D W N A P Q V Q Y R V Q W R P Q G T R p.760
. . . . . . g.14205
GGGCCCTGGCAGGAGCAGATTGTCAGCGACCCCTTCCTGGTGGTGTCCAACACGTCCACC c.2340
G P W Q E Q I V S D P F L V V S N T S T p.780
. . . . . . g.14265
TTCGTGCCCTATGAGATCAAAGTCCAGGCCGTCAACAGCCAGGGCAAGGGACCAGAGCCC c.2400
F V P Y E I K V Q A V N S Q G K G P E P p.800
. . . | 19 . . . g.15154
CAGGTCACTATCGGCTACTCTGGAGAGGACT | ACCCCCAGGCAATCCCTGAGCTGGAAGGC c.2460
Q V T I G Y S G E D Y | P Q A I P E L E G p.820
. . . . . . g.15214
ATTGAAATCCTCAACTCAAGTGCCGTGCTGGTCAAGTGGCGGCCGGTGGACCTGGCCCAG c.2520
I E I L N S S A V L V K W R P V D L A Q p.840
. . | 20. . . . g.15477
GTCAAGGGCCACCTCCGCGGATACAAT | GTGACGTACTGGAGGGAGGGCAGTCAGAGGAAG c.2580
V K G H L R G Y N | V T Y W R E G S Q R K p.860
. . . . . . g.15537
CACAGCAAGAGACATATCCACAAAGACCATGTGGTGGTGCCCGCCAACACCACCAGTGTC c.2640
H S K R H I H K D H V V V P A N T T S V p.880
. . . . . . g.15597
ATCCTCAGTGGCTTGCGGCCCTATAGCTCCTACCACCTGGAGGTGCAGGCCTTTAACGGG c.2700
I L S G L R P Y S S Y H L E V Q A F N G p.900
. . . . | 21 . g.15745
CGAGGATCGGGGCCCGCCAGCGAGTTCACCTTCAGCACCCCAGAGGGAG | TGCCTGGCCAC c.2760
R G S G P A S E F T F S T P E G V | P G H p.920
. . . . . . g.15805
CCCGAGGCGTTGCACCTGGAGTGCCAGTCGAACACCAGCCTGCTGCTGCGCTGGCAGCCC c.2820
P E A L H L E C Q S N T S L L L R W Q P p.940
. . . . . | 22 . g.15958
CCACTCAGCCACAACGGCGTGCTCACCGGCTACGTGCTCTCCTACCACCCCC | TGGATGAG c.2880
P L S H N G V L T G Y V L S Y H P L | D E p.960
. . . . . . g.16018
GGGGGCAAGGGGCAACTGTCCTTCAACCTTCGGGACCCCGAACTTCGGACACACAACCTG c.2940
G G K G Q L S F N L R D P E L R T H N L p.980
. . . . . . g.16078
ACCGATCTCAGCCCCCACCTGCGGTACCGCTTCCAGCTTCAGGCCACCACCAAAGAGGGC c.3000
T D L S P H L R Y R F Q L Q A T T K E G p.1000
. . . . | 23 . . g.16254
CCTGGTGAAGCCATCGTACGGGAAGGAGGCACTATGGCCTTGTCTG | GGATCTCAGATTTT c.3060
P G E A I V R E G G T M A L S G | I S D F p.1020
. . . . . . g.16314
GGCAACATCTCAGCCACAGCGGGTGAAAACTACAGTGTCGTCTCCTGGGTCCCCAAGGAG c.3120
G N I S A T A G E N Y S V V S W V P K E p.1040
. . . . | 24 . . g.16481
GGCCAGTGCAACTTCAGGTTCCATATCTTGTTCAAAGCCTTGGGAG | AAGAGAAGGGTGGG c.3180
G Q C N F R F H I L F K A L G E | E K G G p.1060
. . . . . . g.16541
GCTTCCCTTTCGCCACAGTATGTCAGCTACAACCAGAGCTCCTACACGCAGTGGGACCTG c.3240
A S L S P Q Y V S Y N Q S S Y T Q W D L p.1080
. . . . . . g.16601
CAGCCTGACACTGACTACGAGATCCACTTGTTTAAGGAGAGGATGTTCCGGCACCAAATG c.3300
Q P D T D Y E I H L F K E R M F R H Q M p.1100
. . | 25 . . . . g.16965
GCTGTGAAGACCAATGGCACAG | GCCGCGTGAGGCTCCCTCCTGCTGGCTTCGCCACTGAG c.3360
A V K T N G T G | R V R L P P A G F A T E p.1120
. . . . . . g.17025
GGCTGGTTCATCGGCTTTGTGAGTGCCATCATCCTCCTGCTCCTCGTCCTGCTCATCCTC c.3420
G W F I G F V S A I I L L L L V L L I L p.1140
. . . | 26. . . g.17418
TGCTTCATCAAGCGCAGCAAGGGCGGCAAATACTCAG | TGAAGGATAAGGAGGACACCCAG c.3480
C F I K R S K G G K Y S V | K D K E D T Q p.1160
. . . . . | 27 . g.17575
GTGGACTCTGAGGCCCGACCGATGAAAGATGAGACCTTCGGCGAGTACAG | GTCCCTGGAG c.3540
V D S E A R P M K D E T F G E Y R | S L E p.1180
| 28 . . . . . . g.18108
AG | TGACAACGAGGAGAAGGCCTTTGGCAGCAGCCAGCCATCGCTCAACGGGGACATCAAG c.3600
S | D N E E K A F G S S Q P S L N G D I K p.1200
. . . . . . g.18168
CCCCTGGGCAGTGACGACAGCCTGGCCGATTATGGGGGCAGCGTGGATGTTCAGTTCAAC c.3660
P L G S D D S L A D Y G G S V D V Q F N p.1220
. . . . . . g.18228
GAGGATGGTTCGTTCATTGGCCAGTACAGTGGCAAGAAGGAGAAGGAGGCGGCAGGGGGC c.3720
E D G S F I G Q Y S G K K E K E A A G G p.1240
. . . . . g.18282
AATGACAGCTCAGGGGCCACTTCCCCCATCAACCCTGCCGTGGCCCTAGAATAG c.3774
N D S S G A T S P I N P A V A L E X p.1257
. . . . . . g.18342
tggagtccaggacaggagatgctgtgcccctggccttgggatccaggcccctccctctcc c.*60
. . . . . . g.18402
agcaggcccatgggaggctggagttggggcagaggagaacttgctgcctcggatcccctt c.*120
. . . . . . g.18462
cctaccacccggtccccactttattgccaaaacccagctgcaccccttcctgggcacacg c.*180
. . . . . . g.18522
ctgctctgccccagcttgggcagatctcccacatgccaggggcctttgggtgctgttttg c.*240
. . . . . . g.18582
ccagcccatttgggcagagaggctgtggtttgggggagaagaagtaggggtggcccgaaa c.*300
. . . . . . g.18642
gggtctccgaaatgctgtctttcttgctccctgactgggggcagacatggtggggtctcc c.*360
. . . . . . g.18702
tcaggaccagggttggcaccttccccctcccccagccactccccagccagcctggctggg c.*420
. . . . . . g.18762
actgggaacagaactcggtgtccccaccatctgctgtcttttctttgccatctctgctcc c.*480
. . . . . . g.18822
aaccgggatgggagccgggcaaactggccgcgggggcaggggaggccatctggagagccc c.*540
. . . . . . g.18882
agagtccccccactcccagcatcgcactctggcagcaccgcctcttcccgccgcccagcc c.*600
. . . . . . g.18942
caccccatggccggctttcaggagctccatacacacgctgccttcggtacccaccacaca c.*660
. . . . . . g.19002
acatccaagtggcctccgtcactacctggctgcggggcgggcacacctcctcccactgcc c.*720
. . . . . . g.19062
cactggccggcctcttccagccgcccccaccccccaggaccccttagcagccctgccctc c.*780
. . . . . . g.19122
cctatcgtctgaacagttgtcttcctcagcctcctcccgcccccaccttgggaatgtaaa c.*840
. . . . . . g.19182
tacaccgtgactttgaaagtttgtacccctgtccttccctttacgccactagtgtgtagg c.*900
. . . . . . g.19242
cagatgtctgagtccctaggtggtttctaggattgatagcaattagctttgatgaaccca c.*960
. . . . . . g.19302
tcccaggaaaaataaaaacagacaaaaaaaaaggaaagattggttctcccagcactgctc c.*1020
. . . . . . g.19362
agcagccacagcctccctgtatgcctgtgcttggtctactgataagccctctacaaaaaa c.*1080
. . . . . . g.19422
acaaaagtatatatatatatgtacataatatcagaattataacaggcaaataaaacctga c.*1140
g.19431
aaatcaaga c.*1149
(downstream sequence)
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