(used for variant description)
(last modified November 6, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_005379.3 in the MYO1A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering MYO1A transcript NM_005379.3.
(upstream sequence)
. g.5659
gactggcacag c.-241
. . . . . . g.5719
ggagcctgggctggaagaggcagcaaaagggaaaatcagaagagtggacactggcaagag c.-181
. . . . . . g.5779
gagggcagcctttttcccagcttccttgcaccatggacagctcccattaagccacctctc c.-121
. . . . . . g.5839
catcctggggccaggactcttatgccccattcctgtcaaattgagatttcatccaccatt c.-61
. . . . | 02 . g.7442
ctccaaggacagtgaagttataccctagttccagtgttgg | gatcagtggcccctctggac c.-1
. . . . . . g.7502
ATGCCTCTCCTGGAAGGTTCTGTGGGGGTGGAGGATCTTGTCCTCCTGGAACCCTTGGTG c.60
M P L L E G S V G V E D L V L L E P L V p.20
. . . . . | 03 . g.7667
GAGGAGTCACTGCTCAAGAATCTTCAGCTTCGCTATGAAAACAAGGAGATTTAT | ACCTAC c.120
E E S L L K N L Q L R Y E N K E I Y | T Y p.40
. . . . . . g.7727
ATTGGGAATGTGGTGATCTCAGTGAATCCCTATCAACAGCTTCCCATCTATGGGCCAGAG c.180
I G N V V I S V N P Y Q Q L P I Y G P E p.60
. . . . . | 04 . g.8054
TTCATTGCCAAATATCAAGACTATACTTTCTATGAGCTGAAGCCCCATAT | CTACGCATTG c.240
F I A K Y Q D Y T F Y E L K P H I | Y A L p.80
. . . . . . g.8114
GCAAATGTGGCGTACCAGTCACTGAGGGACAGGGACCGAGACCAGTGTATCCTCATCACA c.300
A N V A Y Q S L R D R D R D Q C I L I T p.100
. . | 05 . . . . g.8393
GGCGAGAGTGGATCAGGGAAGACTG | AGGCCAGCAAGCTGGTGATGTCTTATGTGGCTGCC c.360
G E S G S G K T E | A S K L V M S Y V A A p.120
. . . . . . g.8453
GTCTGTGGGAAAGGAGAGCAGGTGAACTCTGTGAAGGAGCAGCTGCTACAGTCTAACCCA c.420
V C G K G E Q V N S V K E Q L L Q S N P p.140
. | 06 . . . . | 07. g.8842
GTGCTGGAGG | CTTTTGGCAATGCCAAGACCATTCGCAACAACAATTCCTCCCGATTT | GGA c.480
V L E A | F G N A K T I R N N N S S R F | G p.160
. . . . . . g.8902
AAATACATGGATATTGAATTTGACTTCAAGGGATCCCCCCTCGGTGGTGTCATCACAAAC c.540
K Y M D I E F D F K G S P L G G V I T N p.180
| 08 . . . . . . g.9174
T | ATCTGCTTGAGAAATCCCGATTAGTGAAGCAGCTCAAAGGAGAAAGGAACTTCCACATC c.600
Y | L L E K S R L V K Q L K G E R N F H I p.200
. . . . | 09 . . g.11576
TTCTATCAGCTGCTGGCTGGAGCAGATGAACAGCTGCTGA | AGGCCCTGAAGCTTGAGCGG c.660
F Y Q L L A G A D E Q L L K | A L K L E R p.220
. . . . . . g.11636
GATACAACTGGCTATGCCTATCTGAATCATGAAGTATCCAGAGTGGATGGCATGGACGAC c.720
D T T G Y A Y L N H E V S R V D G M D D p.240
. . | 10 . . . . g.11798
GCCTCCAGCTTCAGGGCTGTACAG | AGTGCAATGGCAGTGATTGGGTTCTCGGAGGAGGAG c.780
A S S F R A V Q | S A M A V I G F S E E E p.260
. . . . . . g.11858
ATTCGACAAGTGCTAGAGGTGACATCCATGGTGCTAAAGCTGGGGAACGTGTTGGTGGCT c.840
I R Q V L E V T S M V L K L G N V L V A p.280
. . . . . | 11 . g.12415
GATGAGTTCCAGGCCAGTGGGATACCAGCAAGTGGCATCCGTGATGGGAGAG | GTGTTCGG c.900
D E F Q A S G I P A S G I R D G R G | V R p.300
. . . . . . g.12475
GAGATTGGGGAGATGGTGGGCTTGAATTCAGAAGAAGTAGAGAGAGCTTTGTGCTCGAGG c.960
E I G E M V G L N S E E V E R A L C S R p.320
. . . . . | 12 . g.12616
ACCATGGAAACAGCCAAGGAAAAGGTGGTCACTGCACTGAATGTTATGCAG | GCTCAGTAT c.1020
T M E T A K E K V V T A L N V M Q | A Q Y p.340
. . . . . . g.12676
GCTCGGGACGCCCTGGCTAAGAACATCTACAGCCGCCTCTTTGACTGGATAGTGAATCGA c.1080
A R D A L A K N I Y S R L F D W I V N R p.360
. | 13 . . . . g.14310
ATCAATGAGAGCATCAAG | GTGGGCATCGGGGAAAAGAAGAAGGTAATGGGAGTCCTTGAT c.1140
I N E S I K | V G I G E K K K V M G V L D p.380
. . | 14 . . . . g.14513
ATCTACGGTTTTGAGATATTAGAG | GATAATAGCTTTGAGCAATTTGTGATCAACTACTGC c.1200
I Y G F E I L E | D N S F E Q F V I N Y C p.400
. . . . . . g.14573
AATGAGAAGCTGCAGCAGGTGTTCATAGAGATGACCCTGAAAGAAGAGCAAGAGGAATAT c.1260
N E K L Q Q V F I E M T L K E E Q E E Y p.420
| 15 . . . . . g.16542
AAGAGAGAA | GGCATACCGTGGACAAAGGTGGACTACTTTGATAATGGCATCATTTGTAAG c.1320
K R E | G I P W T K V D Y F D N G I I C K p.440
. | 16 . . . . . g.16804
CTCATTGAGCAT | AATCAGCGAGGTATCCTGGCCATGTTGGATGAGGAGTGCCTGCGGCCT c.1380
L I E H | N Q R G I L A M L D E E C L R P p.460
. . . . . . g.16864
GGGGTGGTCAGTGACTCCACTTTCCTAGCAAAGCTGAACCAGCTCTTCTCCAAGCATGGC c.1440
G V V S D S T F L A K L N Q L F S K H G p.480
. . . . . . g.16924
CACTACGAGAGCAAAGTCACCCAGAATGCCCAGCGTCAGTATGACCACACCATGGGCCTC c.1500
H Y E S K V T Q N A Q R Q Y D H T M G L p.500
. . . | 17 . . . g.17154
AGCTGCTTCCGCATCTGCCACTATGCGGGCAAG | GTGACATACAACGTGACCAGCTTTATT c.1560
S C F R I C H Y A G K | V T Y N V T S F I p.520
. . . . . . g.17214
GACAAGAATAATGACCTACTCTTCCGAGACCTGTTGCAGGCCATGTGGAAGGCCCAGCAC c.1620
D K N N D L L F R D L L Q A M W K A Q H p.540
. . . . . . g.17274
CCCCTCCTTCGGTCCTTGTTTCCTGAGGGCAATCCTAAGCAGGCATCTCTCAAACGCCCC c.1680
P L L R S L F P E G N P K Q A S L K R P p.560
. . . . . . g.17334
CCGACTGCTGGGGCCCAGTTCAAGAGTTCTGTGGCCATCCTCATGAAGAATCTGTATTCC c.1740
P T A G A Q F K S S V A I L M K N L Y S p.580
. . | 18 . . . . g.17736
AAGAGCCCCAACTACATCAG | GTGCATAAAGCCCAATGAGCATCAGCAGCGAGGTCAGTTC c.1800
K S P N Y I R | C I K P N E H Q Q R G Q F p.600
. . . . . . g.17796
TCTTCAGACCTGGTGGCAACCCAGGCTCGGTACCTGGGACTGCTGGAGAACGTACGGGTG c.1860
S S D L V A T Q A R Y L G L L E N V R V p.620
. . . . . . g.17856
CGACGGGCAGGCTATGCCCACCGCCAGGGTTATGGGCCCTTCCTGGAAAGGTACCGATTG c.1920
R R A G Y A H R Q G Y G P F L E R Y R L p.640
. . . . | 19 . . g.18143
CTGAGCCGGAGCACCTGGCCTCACTGGAATGGGGGAGACCG | GGAAGGTGTTGAGAAGGTC c.1980
L S R S T W P H W N G G D R | E G V E K V p.660
. . . . . . g.18203
CTGGGGGAGCTGAGCATGTCCTCGGGGGAGCTGGCCTTTGGCAAGACAAAGATCTTCATT c.2040
L G E L S M S S G E L A F G K T K I F I p.680
. | 20 . . . . . g.18719
AGAAGCCCCAAGACT | CTTTTCTACCTCGAAGAACAGAGGCGCCTGAGACTCCAGCAGCTG c.2100
R S P K T | L F Y L E E Q R R L R L Q Q L p.700
. . . . . . g.18779
GCCACACTCATACAGAAGATTTACCGAGGCTGGCGCTGCCGCACCCACTACCAACTGATG c.2160
A T L I Q K I Y R G W R C R T H Y Q L M p.720
. . . . | 21 . . g.18940
CGAAAGAGTCAGATCCTCATCTCCTCTTGGTTTCGGGGAAACATG | CAAAAGAAATGCTAT c.2220
R K S Q I L I S S W F R G N M | Q K K C Y p.740
. . . . . | 22 . g.19390
GGGAAGATAAAGGCATCCGTGTTATTGATCCAGGCTTTTGTGAGAGGGTGGAAG | GCCCGA c.2280
G K I K A S V L L I Q A F V R G W K | A R p.760
. . . . . . g.19450
AAGAATTATCGCAAATATTTCCGGTCAGAGGCTGCCCTCACCTTGGCAGATTTCATCTAC c.2340
K N Y R K Y F R S E A A L T L A D F I Y p.780
| 23 . . . . . g.24642
AAGAGCATG | GTACAGAAATTCCTACTGGGGCTGAAGAACAATTTGCCATCCACAAACGTC c.2400
K S M | V Q K F L L G L K N N L P S T N V p.800
. . . . . . g.24702
TTAGACAAGACATGGCCAGCCGCCCCCTACAAGTGCCTCAGCACAGCAAATCAGGAGCTG c.2460
L D K T W P A A P Y K C L S T A N Q E L p.820
. . | 24 . . . . g.25485
CAGCAGCTCTTCTACCAGTGGAAG | TGCAAGAGGTTCCGGGATCAGCTGTCCCCGAAGCAG c.2520
Q Q L F Y Q W K | C K R F R D Q L S P K Q p.840
. . . . . . g.25545
GTAGAGATCCTGAGGGAAAAGCTCTGTGCCAGTGAACTGTTCAAGGGCAAGAAGGCTTCA c.2580
V E I L R E K L C A S E L F K G K K A S p.860
. | 25 . . . . . g.25942
TATCCCCAGAG | TGTCCCCATTCCATTCTGTGGTGACTACATTGGGCTGCAAGGGAACCCC c.2640
Y P Q S | V P I P F C G D Y I G L Q G N P p.880
. . . . . . g.26002
AAGCTGCAGAAGCTGAAAGGCGGGGAGGAGGGGCCTGTTCTGATGGCAGAGGCCGTGAAG c.2700
K L Q K L K G G E E G P V L M A E A V K p.900
. . | 26 . . . . g.26214
AAGGTCAATCGTGGCAATGGCAAG | ACTTCTTCTCGGATTCTCCTCCTGACCAAGGGCCAT c.2760
K V N R G N G K | T S S R I L L L T K G H p.920
. . . . . . g.26274
GTGATTCTCACAGACACCAAGAAGTCCCAGGCCAAAATTGTCATTGGGCTAGACAATGTG c.2820
V I L T D T K K S Q A K I V I G L D N V p.940
. . . . . | 27. g.26509
GCTGGGGTGTCAGTCACCAGCCTCAAGGATGGGCTCTTTAGCTTGCATCTGAGTGAG | ATG c.2880
A G V S V T S L K D G L F S L H L S E | M p.960
. . . . . . g.26569
TCATCGGTGGGCTCCAAGGGGGACTTCCTGCTGGTCAGCGAGCATGTGATTGAACTGCTG c.2940
S S V G S K G D F L L V S E H V I E L L p.980
. . . . . . g.26629
ACCAAAATGTACCGGGCTGTGCTGGATGCCACGCAGAGGCAGCTTACAGTCACCGTGACT c.3000
T K M Y R A V L D A T Q R Q L T V T V T p.1000
| 28 . . . . . . g.26939
GAGAA | GTTCTCAGTGAGGTTCAAGGAGAACAGTGTGGCTGTCAAGGTCGTCCAGGGCCCT c.3060
E K | F S V R F K E N S V A V K V V Q G P p.1020
. . . . . . g.26999
GCAGGTGGTGACAACAGCAAGCTACGCTACAAAAAAAAGGGGAGTCATTGCTTGGAGGTG c.3120
A G G D N S K L R Y K K K G S H C L E V p.1040
. g.27011
ACTGTGCAGTGA c.3132
T V Q X p.1043
. . . . . . g.27071
ggagggggcaccatgcagagatggcagttgcttcctcctgaaccagcactaatccccctc c.*60
. . . . . . g.27131
tgccctcctgtgtgggaggatctctaacccctctgatcgtggcgcatggcttggggatta c.*120
. . . . . . g.27191
aactacccttgaagaggacccttgtcccaaacccttcttgttctctcctccaaaagtagc c.*180
. . . . . g.27249
ttcctccaacccgcagcctctctgcacactaataaaacatgtggcttggaaaggttca c.*238
(downstream sequence)
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