(used for variant description)
(last modified April 4, 2026)
This file was created to facilitate the description of sequence variants on transcript NM_013341.3 in the OLA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering OLA1 transcript NM_013341.3.
(upstream sequence)
g.5006
ggtctg c.-181
. . . . . . g.5066
cgcgcaggtgccgctcggcgcccggcccgcccgttccgccgctgtcgccgccgtcgtgcg c.-121
. . . . . . g.5126
tgccgctcggcggaggggacgggcctgcgttctctcctccttcctccccgcctccagctg c.-61
. . . . . . g.5186
ccggcaggacctttctctcgctgccgctgggaccccgtgtcatcgcccaggccgagcacg c.-1
| 02 . . . . . . g.6882
| ATGCCCCCTAAAAAGGGAGGTGATGGAATTAAACCACCCCCAATCATTGGAAGATTTGGA c.60
| M P P K K G G D G I K P P P I I G R F G p.20
. . . . | 03 . . g.24205
ACCTCACTGAAAATTGGTATTGTTGGATTGCCAAATGTTGG | GAAATCTACTTTCTTCAAT c.120
T S L K I G I V G L P N V G | K S T F F N p.40
. . . . . . g.24265
GTGTTAACCAATAGTCAGGCTTCAGCAGAAAACTTCCCGTTCTGCACTATTGATCCTAAT c.180
V L T N S Q A S A E N F P F C T I D P N p.60
. . . . . . g.24325
GAGAGCAGAGTACCTGTGCCAGATGAAAGGTTTGACTTTCTTTGTCAATACCACAAACCA c.240
E S R V P V P D E R F D F L C Q Y H K P p.80
| 04 . . . . . . g.30532
GCAAG | CAAAATTCCTGCCTTTCTAAATGTGGTGGATATTGCTGGCCTTGTGAAAGGAGCT c.300
A S | K I P A F L N V V D I A G L V K G A p.100
. . . . . . g.30592
CACAATGGGCAGGGCCTGGGGAATGCTTTTTTATCTCATATTAGTGCCTGTGATGGCATC c.360
H N G Q G L G N A F L S H I S A C D G I p.120
. | 05 . . . . . g.111684
TTTCATCTAACAC | GTGCTTTTGAAGATGATGATATCACGCACGTTGAAGGAAGTGTAGAT c.420
F H L T R | A F E D D D I T H V E G S V D p.140
. . . . . . g.111744
CCTATTCGAGATATAGAAATAATACATGAAGAGCTTCAGCTTAAAGATGAGGAAATGATT c.480
P I R D I E I I H E E L Q L K D E E M I p.160
. . . . . . g.111804
GGGCCCATTATAGATAAACTAGAAAAGGTGGCTGTGAGAGGAGGAGATAAAAAACTAAAA c.540
G P I I D K L E K V A V R G G D K K L K p.180
| 06 . . . . . g.130013
CCTGAATAT | GATATAATGTGCAAAGTAAAATCCTGGGTTATAGATCAAAAGAAACCTGTT c.600
P E Y | D I M C K V K S W V I D Q K K P V p.200
. . . | 07 . . . g.130390
CGCTTCTATCATGATTGGAATGACAAAGAG | ATTGAAGTGTTGAATAAACACTTATTTTTG c.660
R F Y H D W N D K E | I E V L N K H L F L p.220
. . . . . . g.130450
ACTTCAAAACCAATGGTCTACTTGGTTAATCTTTCTGAAAAAGACTACATTAGAAAGAAA c.720
T S K P M V Y L V N L S E K D Y I R K K p.240
| 08 . . . . . g.171625
AACAAATG | GTTGATAAAAATTAAAGAGTGGGTGGACAAGTATGACCCAGGTGCTTTGGTC c.780
N K W | L I K I K E W V D K Y D P G A L V p.260
. . . . . . g.171685
ATTCCTTTTAGTGGGGCCTTGGAACTCAAGTTGCAAGAATTGAGTGCTGAGGAGAGACAG c.840
I P F S G A L E L K L Q E L S A E E R Q p.280
. . | 09 . . . g.172420
AAGTATCTGGAAGCGAACATGACACAAAG | TGCTTTGCCAAAGATCATTAAGGCTGGGTTT c.900
K Y L E A N M T Q S | A L P K I I K A G F p.300
. . . . . . g.172480
GCAGCACTCCAACTAGAATACTTTTTCACTGCAGGCCCAGATGAAGTGCGTGCATGGACC c.960
A A L Q L E Y F F T A G P D E V R A W T p.320
| 10 . . . . . . g.174601
ATCAGG | AAAGGGACTAAGGCTCCTCAGGCTGCAGGAAAGATTCACACAGATTTTGAAAAG c.1020
I R | K G T K A P Q A A G K I H T D F E K p.340
. . . . . . g.174661
GGATTCATTATGGCTGAAGTAATGAAATACGAAGATTTTAAAGAGGAAGGTTCTGAAAAT c.1080
G F I M A E V M K Y E D F K E E G S E N p.360
| 11 . . . . . g.178161
GCAGTCAAG | GCTGCTGGAAAGTACAGACAACAAGGCAGAAATTATATTGTTGAAGATGGA c.1140
A V K | A A G K Y R Q Q G R N Y I V E D G p.380
. . . . . g.178212
GATATTATCTTCTTCAAATTTAACACACCTCAACAACCGAAGAAGAAATAA c.1191
D I I F F K F N T P Q Q P K K K X p.396
. . . . . . g.178272
aatttagttattgctcagataaacatacaacttccaaaaggcatctgatttttaaaaaat c.*60
. . . . . . g.178332
taaaatttctgaaaaccaatgcgacaaataaagttggggagatgggaatctttgacaaac c.*120
. . . . . . g.178392
aaattatttttatttgttttaaaattaaaatactgtgtacccccccccccccatgaaatg c.*180
. . . . . . g.178452
caggttcactaaatgtgaacagctttgcttttcacgtgattaagaccctactccaaattg c.*240
. . . . . . g.178512
tagaagcttttcaggaaccatattactctcatgatacttcattaatctccatcatgtatg c.*300
. . . . . . g.178572
ccaagcctgacacatttgacagtgaggacaatgtggcttgctcctttttgaatctacaga c.*360
. . . . . . g.178632
taatgcatgttttacagtactccagatgtctacactcaataaaacatttgacaaaaccag c.*420
. . . . . . g.178692
ccttggtgtgtttggggatgtctgtattgactgactgtggtgtgctgaatgcgatacggc c.*480
. . . . . . g.178752
acctggtggttgctgattacagaattttaaggcgtgtgtatgacacagtaactggcagtg c.*540
. . . . . . g.178812
tggggcagctgcaattgtatcttaaaagtgagtctttcatgggaatcagaagaatagtat c.*600
. . . . . . g.178872
accagggatttgtctcaaaaaagttaattaatttatagatcaacatttattgaaagatga c.*660
. . . . . . g.178932
tagcaatgatattatgagggatatgagataggtgactgaccacaaagaagaaaattctgt c.*720
. . . . . . g.178992
ctcaaaaattaaagaattttgtttgttattgttgttctgaccatattgaaaagaggttca c.*780
. . . . . . g.179052
cttttaatctttcctttgaaattattaaattgtaaaaactgacccattgatgtctggtgg c.*840
. . . . . . g.179112
gttatgttttgcttcaattcagcaatgtgtataaaagttcctacactgattttgaaatac c.*900
. . . . . . g.179172
taagatcagactttgaaaattttaaaaattctttcattcttacttttcagatatttgaga c.*960
. . . . . . g.179232
gcagtcgaagtggtagtatgggtaagttaagcacttcttaacattgtagcagaaaattcc c.*1020
. . . . . . g.179292
aaaagaaagactagaacaaattggtaatttggagaccctttgccacttagccttctcttg c.*1080
. . . . . . g.179352
tgatgatggcctgaaagctctctcggccctgagcctccctttctctcccatgtttccatt c.*1140
. . . . . . g.179412
cctgtgagacctcccttccttgtccttgtcctctgcccttttgtgctcttctgtgatcac c.*1200
. . . . . . g.179472
aggaccatttccatggaatgcagattcatacccagccagcctttgcctctactgtatcgc c.*1260
. . . . . . g.179532
tttgggactttaaagatgcagaagtattagaacacacacaaacttaaaatggaaagttac c.*1320
. . . . . . g.179592
caaatgtagcactagaggcaagaaaaggggtgattttttaaagatttggctatacttaag c.*1380
. . . . . . g.179652
atatttaaagaggatgaggttgagtcgtgagtataatttagaagctctccagtgagtatt c.*1440
. . . . . . g.179712
tttttagtatcaaatagtgatcttcttttgctaacataaaaatgagtaaactacagcaga c.*1500
. . . . . . g.179772
gaaataagaataaaactaatgaagggttttttaaaagaactaaataaaacaaataaaact c.*1560
. . . . . . g.179832
aggctacaggtatagctgaccaagtttgctgtgaaaaatccttgttatatctatttctgt c.*1620
. . . . . . g.179892
attggagtaatgtgtagattagtggattgttagggatttcagcagtataagaaagaatca c.*1680
. . . . . . g.179952
aatatcttgcttttgggtcttctccaaagtaaattgcatggacttcttaaagaagtttga c.*1740
. . . . . . g.180012
aatcagtaaaaagacattaggatcatgcaattttactttgtctagcttctaatgtggtaa c.*1800
. . . . . . g.180072
attgcacattgtgcaacagaaccattaataaaagaaaggagttagttttgaggtaactgc c.*1860
. . . . . . g.180132
attcattaggggctgaaaataaatgttaaaaatgtttaatttggttagaagttctacaac c.*1920
. . . . . . g.180192
attgtatgtacatatacaaaatttcattttctctgaaagtcgagaattccaagaactgtt c.*1980
. . . . . . g.180252
acatataatcatatatatgcctatatctaaacgttttccctcctttaatattgataaagt c.*2040
. . . . . . g.180312
taatatattttaggatgttatgtaaatatttttgcatgtatctgtagctccatcttaatc c.*2100
. . . . . . g.180372
aaatttatggttaaaagagatttgaggccaggcgtggaggctcacacctataatcccaac c.*2160
. . . . . . g.180432
actttgggaggccgaggtgggaggatcacttgagcacaggagtttgagaccagcctgtgc c.*2220
. . . . . . g.180492
aacatcatgaaacatcatctctacataaaaaaatacatatatacaaaaattagctgggca c.*2280
. . . . . . g.180552
tcatggcacacacctgtagtcccagctacttaggaggctgagatgggaggattgatcgat c.*2340
. . . . . . g.180612
cgcttgagcctgggaggtggaggctactgtgagccatgatcatgccactgcactccagcc c.*2400
. . . . . . g.180672
tgggcaacagagtgagaccctgtctccaaagagaaagagaaacttgagaaggcttgtgcc c.*2460
. . . . . . g.180732
caaagcttgaagaaagattgtaatagcatttagttgtgttttatcatgttatcttcataa c.*2520
. . . . . . g.180792
catgcattttgcatatggctcagagcagagccggatctcccaaggaagcacaaatagttt c.*2580
. . . . . . g.180852
ttgtcgctaacttagttatgagtgaagcctctgttcacttataacttgccagtttcattg c.*2640
. . . . . . g.180912
gtggaataagtccccttactcatgattcatcaatattcctatattaaaattccagtttga c.*2700
. . . . . . g.180972
tgtttgtctctagttgtctgtgtataatatttccaaagctcctttgtaaaccccgtctcc c.*2760
. . . . . . g.181032
tttcattcagagagtcagagacggtatctcctcctcctgcctcttctattgttctgatta c.*2820
. . . . . . g.181092
gtctacttaaattcacttgatgctctttttattttacaagagacttgagaaatgtcggtt c.*2880
. . . . . . g.181152
gttcctaatggcaaactactttagctgggaaaattcatttcaacttattttaagcttgta c.*2940
. . . g.181191
aaatacactgtggtgataaaataaaagagctgggtttga c.*2979
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 30b
©2004-2026 Leiden University Medical Center