(used for variant description)
(last modified February 14, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001037132.2 in the NRCAM gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000007.13, covering NRCAM transcript NM_001037132.2.
(upstream sequence)
. . . . g.221273
tttcccgcatgaaaattacttaaacgttgcacacaacgtttcacaa c.-61
. . . . . . g.221333
aatcttttgtgaaagaagaaaaggaaattcagtgtgtgagtctcagcaggagttaagcta c.-1
. . . . . . g.221393
ATGCAGCTTAAAATAATGCCGAAAAAGAAGCGCTTATCTGCGGGCAGAGTGCCCCTGATT c.60
M Q L K I M P K K K R L S A G R V P L I p.20
. . . . | 02 . . g.223642
CTCTTCCTGTGCCAGATGATTAGTGCACTGGAAGTACCTCTTGATC | CAAAACTTCTTGAA c.120
L F L C Q M I S A L E V P L D P | K L L E p.40
| 03 . . . . . . g.226765
GACT | TGGTACAGCCTCCAACCATCACCCAACAGTCTCCAAAAGATTACATTATTGACCCT c.180
D L | V Q P P T I T Q Q S P K D Y I I D P p.60
. . . . . | 04 . g.228885
CGGGAGAATATTGTAATCCAGTGTGAAGCCAAAGGGAAACCGCCCCCAAG | CTTTTCCTGG c.240
R E N I V I Q C E A K G K P P P S | F S W p.80
. . . . . . g.228945
ACCCGTAATGGGACTCATTTTGACATCGATAAAGACCCTCTGGTCACCATGAAGCCTGGC c.300
T R N G T H F D I D K D P L V T M K P G p.100
. . . . . . g.229005
ACAGGAACGCTCATAATTAACATCATGAGCGAAGGGAAAGCTGAGACCTATGAAGGAGTC c.360
T G T L I I N I M S E G K A E T Y E G V p.120
. . . . . . g.229065
TATCAGTGTACAGCAAGGAACGAACGCGGAGCTGCAGTTTCTAATAACATTGTTGTCCGC c.420
Y Q C T A R N E R G A A V S N N I V V R p.140
| 05. . . . . . g.230297
CCATCCA | GATCACCATTGTGGACCAAAGAAAAACTTGAACCAATCACACTTCAAAGTGGT c.480
P S R | S P L W T K E K L E P I T L Q S G p.160
. . . . . . g.230357
CAGTCTTTAGTACTTCCCTGCAGACCCCCAATTGGATTACCACCACCTATAATATTTTGG c.540
Q S L V L P C R P P I G L P P P I I F W p.180
. | 06 . . . . . g.235069
ATGGATAATT | CCTTTCAAAGACTTCCACAAAGTGAGAGAGTTTCTCAAGGTTTGAATGGG c.600
M D N S | F Q R L P Q S E R V S Q G L N G p.200
. . . . . . g.235129
GACCTTTATTTTTCCAATGTCCTCCCAGAGGACACCCGCGAAGACTATATCTGTTATGCT c.660
D L Y F S N V L P E D T R E D Y I C Y A p.220
. . . . . . g.235189
AGATTTAATCATACTCAAACCATACAGCAGAAGCAACCTATTTCTGTGAAGGTGATTTCA c.720
R F N H T Q T I Q Q K Q P I S V K V I S p.240
| 07 . . . . . | 08 g.237563
G | TGGATGAATTGAATGACACTATAGCTGCTAATTTGAGTGACACTGAGTTTTATGGTG | CT c.780
V | D E L N D T I A A N L S D T E F Y G A | p.260
. . . . . . g.237623
AAATCAAGTAGAGAGAGGCCACCAACATTTTTAACTCCAGAAGGCAATGCAAGTAACAAA c.840
K S S R E R P P T F L T P E G N A S N K p.280
. . . . . | 09 . g.251802
GAGGAATTAAGAGGAAATGTGCTTTCACTGGAGTGCATTGCAGAAGGACT | GCCTACCCCA c.900
E E L R G N V L S L E C I A E G L | P T P p.300
. . . . . . g.251862
ATTATTTACTGGGCAAAGGAAGATGGAATGCTACCCAAAAACAGGACAGTTTATAAGAAC c.960
I I Y W A K E D G M L P K N R T V Y K N p.320
. . . . . . g.251922
TTTGAGAAAACCTTGCAGATCATTCATGTTTCAGAAGCAGACTCTGGAAATTACCAATGT c.1020
F E K T L Q I I H V S E A D S G N Y Q C p.340
. . . . . | 10 . g.253743
ATAGCAAAAAACGCATTAGGAGCCATCCACCATACCATTTCTGTTAGAGTTAAAG | CGGCT c.1080
I A K N A L G A I H H T I S V R V K A | A p.360
. . . . . . g.253803
CCATACTGGATCACAGCCCCTCAAAATCTTGTGCTGTCCCCAGGAGAGGATGGGACCTTG c.1140
P Y W I T A P Q N L V L S P G E D G T L p.380
. . . . . . g.253863
ATCTGCAGAGCTAATGGCAACCCCAAACCCAGAATTAGCTGGTTAACAAATGGAGTCCCA c.1200
I C R A N G N P K P R I S W L T N G V P p.400
| 11. . . . . . g.263351
ATAGAAA | TTGCCCCTGATGACCCCAGCAGAAAAATAGATGGCGATACCATTATTTTTTCA c.1260
I E I | A P D D P S R K I D G D T I I F S p.420
. . . . . . g.263411
AATGTTCAAGAAAGATCAAGTGCAGTCTATCAGTGCAATGCCTCTAATGAATATGGATAT c.1320
N V Q E R S S A V Y Q C N A S N E Y G Y p.440
. . . | 12 . . . g.265554
TTACTGGCAAACGCATTTGTAAATGTGCTGG | CTGAGCCACCACGAATCCTCACACCTGCA c.1380
L L A N A F V N V L A | E P P R I L T P A p.460
. . . . . . g.265614
AACACACTCTACCAGGTCATTGCAAACAGGCCTGCTTTACTAGACTGTGCCTTCTTTGGG c.1440
N T L Y Q V I A N R P A L L D C A F F G p.480
. . | 13 . . . . g.267006
TCTCCTCTCCCAACCATCGAGTG | GTTTAAAGGAGCTAAAGGAAGTGCTCTTCATGAAGAT c.1500
S P L P T I E W | F K G A K G S A L H E D p.500
. . . . . . g.267066
ATTTATGTTTTACATGAAAATGGAACTTTGGAAATTCCTGTGGCCCAAAAGGACAGTACA c.1560
I Y V L H E N G T L E I P V A Q K D S T p.520
. . . . . . g.267126
GGAACTTATACGTGTGTTGCAAGGAATAAATTAGGGATGGCGAAGAATGAAGTTCACTTA c.1620
G T Y T C V A R N K L G M A K N E V H L p.540
. | 14 . . . . . g.267276
GAAATCAAAG | ATCCTACATGGATCGTTAAACAGCCCGAATATGCAGTTGTGCAAAGAGGG c.1680
E I K D | P T W I V K Q P E Y A V V Q R G p.560
. . . . . . g.267336
AGCATGGTGTCCTTTGAATGCAAAGTGAAACATGATCACACCTTATCCCTCACTGTCCTG c.1740
S M V S F E C K V K H D H T L S L T V L p.580
. . . | 15 . . g.269566
TGGCTGAAGGACAACAGGGAACTGCCCAGTGATGAAAG | GTTCACTGTTGACAAGGATCAT c.1800
W L K D N R E L P S D E R | F T V D K D H p.600
. . . . . . g.269626
CTAGTGGTAGCTGATGTCAGTGACGATGACAGCGGGACCTACACGTGTGTGGCCAACACC c.1860
L V V A D V S D D D S G T Y T C V A N T p.620
. . . . | 16 . . g.270131
ACTCTGGACAGCGTCTCCGCCAGCGCTGTGCTTAGCGTTGTTG | CTCCTACTCCAACTCCA c.1920
T L D S V S A S A V L S V V A | P T P T P p.640
. | 17 . . . . . g.271698
GCTCCCGTTTACG | ATGTCCCAAATCCTCCCTTTGACTTAGAACTGACAGATCAACTTGAC c.1980
A P V Y D | V P N P P F D L E L T D Q L D p.660
. . . . . | 18 . g.276788
AAAAGTGTTCAGCTGTCATGGACCCCAGGCGATGACAACAATAGCCCCATTACAA | AATTC c.2040
K S V Q L S W T P G D D N N S P I T K | F p.680
. . . . . . g.276848
ATCATCGAATATGAAGATGCAATGCACAAGCCAGGGCTGTGGCACCACCAAACTGAAGTT c.2100
I I E Y E D A M H K P G L W H H Q T E V p.700
. . . . . . g.276908
TCTGGAACACAGACCACAGCCCAGCTGAAGCTGTCTCCTTACGTGAACTACTCCTTCCGC c.2160
S G T Q T T A Q L K L S P Y V N Y S F R p.720
. . . . . . g.276968
GTGATGGCAGTGAACAGCATTGGGAAGAGCTTGCCCAGCGAGGCGTCTGAGCAGTATTTG c.2220
V M A V N S I G K S L P S E A S E Q Y L p.740
. | 19 . . . . . g.277133
ACGAAAGCCTCAG | AACCAGATAAAAACCCCACAGCTGTGGAAGGACTGGGATCAGAGCCT c.2280
T K A S E | P D K N P T A V E G L G S E P p.760
. . | 20 . . . . g.278513
GATAATTTGGTGATTACGTGGAAG | CCCTTGAATGGTTTCGAATCTAATGGGCCAGGCCTT c.2340
D N L V I T W K | P L N G F E S N G P G L p.780
. . . . . . g.278573
CAGTACAAAGTTAGCTGGCGCCAGAAAGATGGTGATGATGAATGGACATCTGTGGTTGTG c.2400
Q Y K V S W R Q K D G D D E W T S V V V p.800
. . . . . . g.278633
GCAAATGTATCCAAATATATTGTCTCAGGCACGCCAACCTTTGTTCCATACCTGATCAAA c.2460
A N V S K Y I V S G T P T F V P Y L I K p.820
. . . . . . g.278693
GTTCAGGCCCTGAATGACATGGGGTTTGCCCCCGAGCCAGCTGTAGTCATGGGACATTCT c.2520
V Q A L N D M G F A P E P A V V M G H S p.840
. | 21 . . . . . g.279510
GGAGAAGACC | TCCCAATGGTGGCTCCTGGGAACGTGCGTGTGAATGTGGTGAACAGTACC c.2580
G E D L | P M V A P G N V R V N V V N S T p.860
. . . . . . g.279570
TTAGCCGAGGTGCACTGGGACCCAGTACCTCTGAAAAGCATCCGAGGACACCTACAAGGC c.2640
L A E V H W D P V P L K S I R G H L Q G p.880
| 22 . . . . . . g.281024
TATCGG | ATTTACTATTGGAAGACCCAGAGTTCATCTAAAAGAAACAGACGTCACATTGAG c.2700
Y R | I Y Y W K T Q S S S K R N R R H I E p.900
. . . . . . g.281084
AAAAAGATCCTCACCTTCCAAGGCAGCAAGACTCATGGCATGTTGCCGGGGCTAGAGCCC c.2760
K K I L T F Q G S K T H G M L P G L E P p.920
. . . . . . g.281144
TTTAGCCACTACACACTGAATGTCCGAGTGGTCAATGGGAAAGGGGAGGGCCCAGCCAGC c.2820
F S H Y T L N V R V V N G K G E G P A S p.940
. . . | 23 . . . g.283313
CCTGACAGAGTCTTTAATACTCCAGAAGGAG | TCCCCAGTGCTCCCTCGTCTTTGAAGATT c.2880
P D R V F N T P E G V | P S A P S S L K I p.960
. . . . . . g.283373
GTGAATCCAACACTGGACTCTCTCACTTTGGAATGGGATCCACCGAGCCACCCGAATGGC c.2940
V N P T L D S L T L E W D P P S H P N G p.980
. . . | 24 . . . g.284816
ATTTTGACAGAGTACACCTTAAAGTATCAGCCAA | TTAACAGCACACATGAATTAGGCCCT c.3000
I L T E Y T L K Y Q P I | N S T H E L G P p.1000
. . . . . . g.284876
CTGGTAGATTTGAAAATTCCTGCCAACAAGACACGGTGGACTTTAAAAAATTTAAATTTC c.3060
L V D L K I P A N K T R W T L K N L N F p.1020
. . . . . . g.284936
AGCACTCGATATAAGTTTTATTTCTATGCACAAACATCAGCAGGATCAGGAAGTCAAATT c.3120
S T R Y K F Y F Y A Q T S A G S G S Q I p.1040
. . . | 25 . . . g.286068
ACAGAGGAAGCAGTAACAACTGTGGATGAAG | CTGGTATTCTTCCACCTGATGTAGGTGCA c.3180
T E E A V T T V D E A | G I L P P D V G A p.1060
| 26. . . . . . g.293047
GGCAAAG | TTCAAGCAGTAAATCCCAGGATCAGCAATCTTACTGCTGCAGCTGCTGAGACC c.3240
G K V | Q A V N P R I S N L T A A A A E T p.1080
. . . . . . g.293107
TATGCCAATATCAGTTGGGAATATGAGGGACCAGAGCATGTGAACTTTTATGTTGAATAT c.3300
Y A N I S W E Y E G P E H V N F Y V E Y p.1100
. | 27 . . . . . g.294370
GGTGTAGCAGGCA | GCAAAGAAGAATGGAGAAAAGAAATTGTAAATGGTTCTCGGAGCTTC c.3360
G V A G S | K E E W R K E I V N G S R S F p.1120
. . . . . . g.294430
TTTGGGTTAAAGGGTCTAATGCCAGGAACAGCATACAAAGTTCGAGTTGGTGCTGTGGGG c.3420
F G L K G L M P G T A Y K V R V G A V G p.1140
. . . . | 28 . . g.300918
GACTCTGGTTTTGTGAGTTCAGAGGATGTGTTTGAGACAGGCCCAG | CGATGGCAAGCCGG c.3480
D S G F V S S E D V F E T G P A | M A S R p.1160
. . . . . . g.300978
CAGGTGGATATTGCAACTCAGGGCTGGTTCATTGGTCTGATGTGTGCTGTTGCTCTCCTT c.3540
Q V D I A T Q G W F I G L M C A V A L L p.1180
. . . . . | 29 g.301857
ATCTTAATTTTGCTGATTGTTTGCTTCATCAGAAGAAACAAGGGTGGTAAATATCCAG | TT c.3600
I L I L L I V C F I R R N K G G K Y P V | p.1200
. . . . . . g.301917
AAAGAAAAGGAAGATGCCCATGCTGACCCTGAAATCCAGCCTATGAAGGAAGATGATGGG c.3660
K E K E D A H A D P E I Q P M K E D D G p.1220
. | 30. . . . . g.311292
ACATTTGGAGAATACAG | TGATGCAGAAGACCACAAGCCTTTGAAAAAAGGAAGTCGAACT c.3720
T F G E Y S | D A E D H K P L K K G S R T p.1240
. . . . . . g.311352
CCTTCAGACAGGACTGTGAAAAAAGAAGATAGTGACGACAGCCTAGTTGACTATGGAGAA c.3780
P S D R T V K K E D S D D S L V D Y G E p.1260
. . . . . . g.311412
GGGGTTAATGGCCAGTTCAATGAGGATGGCTCCTTTATTGGACAATACAGTGGTAAGAAA c.3840
G V N G Q F N E D G S F I G Q Y S G K K p.1280
. . . . . . g.311472
GAGAAAGAGCCGGCTGAAGGAAACGAAAGCTCAGAGGCACCTTCTCCTGTCAACGCCATG c.3900
E K E P A E G N E S S E A P S P V N A M p.1300
. g.311487
AATTCCTTTGTTTAA c.3915
N S F V X p.1304
. . . . . . g.311547
tttttaagctctttgccaatattccatttctctagaatgtttatcctaagcacttgtttg c.*60
. . . . . . g.311607
tcagccctctcatactatgaacatatgggtagagagtatattttctgctgtatgttagta c.*120
. . . . . . g.311667
ttatgagaatagttacagcaaaaacataactcagtcaaatgatatgttaatatgaactgg c.*180
. . . . . . g.311727
aatgcaaagtgcatactttttcattcaaaatgggtattcttgatttcctcagaactgata c.*240
. . . . . . g.311787
aaaaataatgcaacatcaccaacagatcctgttatttcctctgcaggatacagttcaata c.*300
. . . . . . g.311847
tgatgcatgaaaaatgctccacatttaaaggacatacccgtgtatgttatgaaaacatgg c.*360
. . . . . . g.311907
tttgatactttgtttatactaccctcagctgaacccctatatatgaattccgttttcatt c.*420
. . . . . . g.311967
gtcaagaatgttactgtagtattctctagaacttcaatgtctttgtggacattgttgtga c.*480
. . . . . . g.312027
aattggtgactatgtatagctgtcgttagtctttttgggagactgttaggaacagtttgt c.*540
. . . . . . g.312087
acagtatatacttgctaaatgagttcattatgacagtcacattgctgatgcttactgaga c.*600
. . . . . . g.312147
actattacctactcttggctcctgttactccgtaggcttcttaatcttccaggcattaca c.*660
. . . . . . g.312207
gcagcacagtgttctactttttacatcatttctatgttcggttgtttttaggcataaaca c.*720
. . . . . . g.312267
atgtgtattgcagtgcatttcggcatttgtgccatactgaaagaatcaaaaacaaatcat c.*780
. . . . . . g.312327
ccaaattaaatttcaaacattatttcagagaacacagggcaagacacatacagtgccttc c.*840
. . . . . . g.312387
agatattaagcattccacaacatcgtgcattctgtatcagctggtccagtccattctggg c.*900
. . . . . . g.312447
tcctagattactgtcattgtctaaaagtaacttttaaaaagcagagttcatgaaaactgc c.*960
. . . . . . g.312507
aatgctgggaaaagaaggaaacatgaaaataaaaataagacagtttattagaaatagcat c.*1020
. . . . . . g.312567
ttcctcataagcataaaaagaaaatctttgttgccaactgaagcacatgatgattttgtg c.*1080
. . . . . . g.312627
gtcctttatggtttctattacattcagtaagaaagatgtcaacatgctagaaaattaatt c.*1140
. . . . . . g.312687
ttaaaactaagttattccaacactaaaagcatacaacagcatgccaacagtaatatatta c.*1200
. . . . . . g.312747
ttctccaagactttacctatgtaagtgttcaaaactctgcagcattaaacaacgtgtatg c.*1260
. . . . . . g.312807
caaattgttatggatacatttcagaatctaagaaatcaggcaagtgcttaaaaggccaac c.*1320
. . . . . . g.312867
ggtccaagggattacatctgcagtttaaaaagtaaatatatattctatcgtattcataaa c.*1380
. . . . . . g.312927
caatatctatcaaatgggttacctccaaatatgaaaatctataacaacctatggttgaag c.*1440
. . . . . . g.312987
gaatgctcagtttcatttgccaataaattggtttctcataacttgcatcaagtttaattt c.*1500
. . . . . . g.313047
taagtaaagctttttatatgtagatattttgttgaatttgtaaatacacttaaaatgtag c.*1560
. . . . . . g.313107
atgctatatgcttataggtgttacatacaaataaacatgcaatgtttatgttgtactgta c.*1620
. . . . . . g.313167
taagaggtaagctaattaatgcagtgaatgggattggaaagcatctacttaaatatctat c.*1680
. . . . . . g.313227
tgggttcccccctccccccaccttttttgctgtgaaactgaaatagtgaacttttctacg c.*1740
. . . . . . g.313287
tattgacagcagatttttcgatgaaatcttcagagctttgcctatggggcacagtaggcc c.*1800
. . . . . . g.313347
tagtaacctggcatgtttgatatatgtaggtaaagcataatttaaagtaatcccaggtaa c.*1860
. . . . . . g.313407
agatggccctaaatactttcatgtctctatattcatttttcacagatccacctgtctctt c.*1920
. . . . . . g.313467
gaaaatataaaaagacaaaacaggtttgccttggcatcagagagcacaaagattaaaagt c.*1980
. . . . . . g.313527
tactttaaatttgccaatattttgggagaacaataaaactacattttttcctcttccata c.*2040
. . . . . . g.313587
ctggtagatgcgaaatttatctgtgcatgaaagggtcacttctgtaatagtgcaacagat c.*2100
. . . . . . g.313647
ttggtattaaaaattaaatgtggttttaaaagttcctctctcttttgtaatttatgttcc c.*2160
. . . . . . g.313707
caattgagtgtgaatgtccaagtaatggtgtatgtaatggtacaggcaaatgtgactgga c.*2220
. . . . . . g.313767
tttccctcaaaaaagtaactattaaacagtcttgatctctttgtgacttttaactttttc c.*2280
g.313771
aaac c.*2284
(downstream sequence)
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