(used for variant description)
(last modified October 1, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_002471.3 in the MYH6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000014.8, covering MYH6 transcript NM_002471.3.
(upstream sequence)
. g.5011
agatagagaga c.-61
. . | 02 . . . | 03 . g.6054
ctcctgcggcccag | attcttcaggattctccgtgaagggataaccag | gggaagcaccaag c.-1
. . . . . . g.6114
ATGACCGATGCCCAGATGGCTGACTTTGGGGCAGCGGCCCAGTACCTCCGCAAGTCAGAG c.60
M T D A Q M A D F G A A A Q Y L R K S E p.20
. . . . . . g.6174
AAGGAGCGTCTAGAGGCCCAGACCCGGCCCTTTGACATTCGCACTGAGTGCTTCGTGCCC c.120
K E R L E A Q T R P F D I R T E C F V P p.40
. . . . . . g.6234
GATGACAAGGAAGAGTTTGTCAAAGCCAAGATTTTGTCCCGGGAGGGAGGCAAGGTCATT c.180
D D K E E F V K A K I L S R E G G K V I p.60
. . | 04 . . . . g.7546
GCTGAAACCGAGAATGGGAAG | ACGGTGACTGTGAAGGAGGACCAGGTGTTGCAGCAGAAC c.240
A E T E N G K | T V T V K E D Q V L Q Q N p.80
. . . . . . g.7606
CCACCCAAGTTCGACAAGATTGAGGACATGGCCATGCTGACCTTCCTGCACGAGCCCGCG c.300
P P K F D K I E D M A M L T F L H E P A p.100
. . . . | 05 . . g.7913
GTGCTTTTCAACCTCAAGGAGCGCTACGCGGCCTGGATGATATAT | ACCTACTCGGGCCTC c.360
V L F N L K E R Y A A W M I Y | T Y S G L p.120
. . . . . . g.7973
TTCTGTGTCACTGTCAACCCCTACAAGTGGCTGCCGGTGTACAATGCCGAGGTGGTGGCC c.420
F C V T V N P Y K W L P V Y N A E V V A p.140
. . . . . . g.8033
GCCTACCGGGGCAAGAAGAGGAGTGAGGCCCCGCCCCACATCTTCTCCATCTCCGACAAC c.480
A Y R G K K R S E A P P H I F S I S D N p.160
. . | 06 . . . | 07 . g.8465
GCCTATCAGTACATGCTGACAG | ATCGGGAGAACCAGTCCATCCTCATCAC | GGGAGAATCC c.540
A Y Q Y M L T D | R E N Q S I L I T | G E S p.180
. . . . . . g.8525
GGGGCGGGGAAGACTGTGAACACCAAGCGTGTCATCCAGTACTTTGCCAGCATTGCAGCC c.600
G A G K T V N T K R V I Q Y F A S I A A p.200
. . . . | 08 . . g.8907
ATAGGTGACCGTGGCAAGAAGGACAATGCCAATGCGAACAAG | GGCACCCTGGAGGACCAG c.660
I G D R G K K D N A N A N K | G T L E D Q p.220
. . . . . . g.8967
ATCATCCAGGCCAACCCCGCTCTGGAGGCCTTCGGCAATGCCAAGACTGTCCGGAACGAC c.720
I I Q A N P A L E A F G N A K T V R N D p.240
. | 09 . . . . . g.9544
AACTCCTCCCGCTTT | GGGAAATTCATTAGGATCCACTTTGGGGCCACTGGAAAGCTGGCT c.780
N S S R F | G K F I R I H F G A T G K L A p.260
. | 10 . . . . g.9872
TCTGCAGACATAGAGACCT | ACCTGCTGGAGAAGTCCCGGGTGATCTTCCAGCTGAAAGCT c.840
S A D I E T Y | L L E K S R V I F Q L K A p.280
. . . . . | 11 g.10479
GAGAGAAACTACCACATCTTCTACCAGATTCTGTCCAACAAGAAGCCGGAGTTGCTGG | AC c.900
E R N Y H I F Y Q I L S N K K P E L L D | p.300
. . . . . . g.10539
ATGCTGCTGGTCACCAACAATCCCTACGACTACGCCTTCGTGTCTCAGGGAGAGGTGTCC c.960
M L L V T N N P Y D Y A F V S Q G E V S p.320
. . . . | 12 . . g.10693
GTGGCCTCCATTGATGACTCCGAGGAGCTCATGGCCACCGAT | AGTGCCTTTGACGTGCTG c.1020
V A S I D D S E E L M A T D | S A F D V L p.340
. . . . . . g.10753
GGCTTCACTTCAGAGGAGAAAGCTGGCGTCTACAAGCTGACGGGAGCCATCATGCACTAC c.1080
G F T S E E K A G V Y K L T G A I M H Y p.360
. . . . . . g.10813
GGGAACATGAAGTTCAAGCAGAAGCAGCGGGAGGAGCAGGCGGAGCCAGACGGCACCGAA c.1140
G N M K F K Q K Q R E E Q A E P D G T E p.380
| 13 . . . . . . g.12359
G | ATGCTGACAAGTCGGCCTACCTCATGGGGCTGAACTCAGCTGACCTGCTCAAGGGGCTG c.1200
D | A D K S A Y L M G L N S A D L L K G L p.400
. . . . . . g.12419
TGCCACCCTCGGGTGAAAGTGGGCAACGAGTATGTCACCAAGGGGCAGAGCGTGCAGCAG c.1260
C H P R V K V G N E Y V T K G Q S V Q Q p.420
. . . . . . g.12479
GTGTACTACTCCATCGGGGCTCTGGCCAAGGCAGTGTATGAGAAGATGTTCAACTGGATG c.1320
V Y Y S I G A L A K A V Y E K M F N W M p.440
. . . . . . g.12539
GTGACGCGCATCAACGCCACCCTGGAGACCAAGCAGCCACGCCAGTACTTCATAGGAGTC c.1380
V T R I N A T L E T K Q P R Q Y F I G V p.460
. . . | 14 . . . g.12881
CTGGACATCGCTGGCTTCGAGATCTTCGAC | TTCAACAGCTTTGAGCAGCTCTGCATCAAC c.1440
L D I A G F E I F D | F N S F E Q L C I N p.480
. . . . . . g.12941
TTCACCAACGAGAAGCTGCAGCAGTTCTTCAACCACCACATGTTCGTGCTGGAGCAGGAG c.1500
F T N E K L Q Q F F N H H M F V L E Q E p.500
. . . . . . g.13001
GAGTACAAGAAGGAGGGCATTGAGTGGACATTCATTGACTTTGGCATGGACCTGCAGGCC c.1560
E Y K K E G I E W T F I D F G M D L Q A p.520
. . | 15 . . . . g.14279
TGCATTGACCTCATCGAGAAG | CCCATGGGCATCATGTCCATCCTGGAGGAGGAGTGCATG c.1620
C I D L I E K | P M G I M S I L E E E C M p.540
. . . . . . g.14339
TTCCCCAAGGCCACTGACATGACCTTCAAGGCCAAGCTGTACGACAACCACCTGGGCAAG c.1680
F P K A T D M T F K A K L Y D N H L G K p.560
. . . . . . g.14399
TCCAACAATTTCCAGAAGCCACGCAACATCAAGGGGAAGCAGGAAGCCCACTTCTCCCTG c.1740
S N N F Q K P R N I K G K Q E A H F S L p.580
. . . . . . g.14459
ATCCACTACGCCGGCACTGTGGACTACAACATCCTGGGCTGGCTGGAAAAAAACAAGGAT c.1800
I H Y A G T V D Y N I L G W L E K N K D p.600
. . . . . . g.14519
CCTCTCAACGAGACTGTTGTGGCCCTGTACCAGAAGTCCTCCCTCAAGCTCATGGCCACT c.1860
P L N E T V V A L Y Q K S S L K L M A T p.620
. . . | 16 . . . g.15693
CTCTTCTCCTCCTACGCAACTGCCGATACTG | GGGACAGTGGTAAAAGCAAAGGAGGCAAG c.1920
L F S S Y A T A D T G | D S G K S K G G K p.640
. . . . | 17 . . g.16038
AAAAAGGGCTCATCCTTCCAGACGGTGTCGGCTCTCCACCGG | GAAAATCTCAACAAGCTA c.1980
K K G S S F Q T V S A L H R | E N L N K L p.660
. . . . . . g.16098
ATGACCAACCTGAGGACCACCCATCCTCACTTTGTGCGTTGCATCATCCCCAATGAGCGG c.2040
M T N L R T T H P H F V R C I I P N E R p.680
. | 18 . . . . . g.16247
AAGGCTCCAG | GGGTGATGGACAACCCCCTGGTCATGCACCAGCTGCGCTGCAATGGCGTG c.2100
K A P G | V M D N P L V M H Q L R C N G V p.700
. . . . . . g.16307
CTGGAGGGCATCCGCATCTGCAGGAAGGGCTTCCCCAACCGCATCCTCTACGGGGACTTC c.2160
L E G I R I C R K G F P N R I L Y G D F p.720
| 19 . . . . . g.16512
CGGCAGAG | GTATCGCATCCTGAACCCAGTGGCCATCCCTGAGGGACAGTTCATTGATAGC c.2220
R Q R | Y R I L N P V A I P E G Q F I D S p.740
. . . . . . g.16572
AGGAAGGGGACAGAGAAGCTGCTCAGCTCTCTGGACATTGATCACAACCAGTACAAGTTT c.2280
R K G T E K L L S S L D I D H N Q Y K F p.760
. | 20 . . . . . g.16905
GGCCACACCAAG | GTGTTCTTCAAGGCAGGGCTGCTTGGGCTGCTGGAGGAGATGCGGGAT c.2340
G H T K | V F F K A G L L G L L E E M R D p.780
. . . . . . g.16965
GAGAGGCTGAGCCGCATCATCACGCGCATGCAGGCCCAAGCCCGGGGCCAGCTCATGCGC c.2400
E R L S R I I T R M Q A Q A R G Q L M R p.800
. . | 21 . . . g.18985
ATTGAGTTCAAGAAGATAGTGGAACGCAG | GGATGCCCTGCTGGTAATCCAGTGGAACATT c.2460
I E F K K I V E R R | D A L L V I Q W N I p.820
. . . . . . g.19045
CGGGCCTTCATGGGGGTCAAGAATTGGCCCTGGATGAAGCTCTACTTCAAGATCAAGCCG c.2520
R A F M G V K N W P W M K L Y F K I K P p.840
. . . . . . g.19105
CTGCTGAAGAGCGCAGAGACGGAGAAGGAGATGGCCACCATGAAGGAAGAGTTCGGGCGC c.2580
L L K S A E T E K E M A T M K E E F G R p.860
. . . . . . g.19165
ATCAAAGAGACGCTGGAGAAGTCCGAGGCTCGCCGCAAGGAGCTGGAGGAGAAGATGGTG c.2640
I K E T L E K S E A R R K E L E E K M V p.880
. . . . | 22 . . g.19384
TCCCTGCTGCAGGAGAAGAATGACCTGCAGCTCCAAGTGCAGGCG | GAACAAGACAACCTC c.2700
S L L Q E K N D L Q L Q V Q A | E Q D N L p.900
. . . . . . g.19444
AATGATGCTGAGGAGCGCTGCGACCAGCTGATCAAAAACAAGATTCAGCTGGAGGCCAAA c.2760
N D A E E R C D Q L I K N K I Q L E A K p.920
. . . . . . g.19504
GTAAAGGAGATGAATGAGAGGCTGGAGGATGAGGAGGAGATGAACGCGGAGCTCACTGCC c.2820
V K E M N E R L E D E E E M N A E L T A p.940
. . . . . . g.19564
AAGAAGCGCAAGCTGGAAGACGAGTGCTCAGAGCTCAAGAAGGACATTGATGACCTGGAG c.2880
K K R K L E D E C S E L K K D I D D L E p.960
. . . . | 23 . g.19771
CTGACACTGGCCAAGGTGGAGAAGGAGAAGCATGCAACAGAGAACAAG | GTGAAGAACCTA c.2940
L T L A K V E K E K H A T E N K | V K N L p.980
. . . . . . g.19831
ACAGAGGAGATGGCTGGGCTGGATGAAATCATCGCTAAGCTGACCAAGGAGAAGAAAGCT c.3000
T E E M A G L D E I I A K L T K E K K A p.1000
. . . . . . g.19891
CTACAAGAGGCCCATCAGCAGGCCCTGGATGACCTTCAGGTTGAGGAAGACAAGGTCAAC c.3060
L Q E A H Q Q A L D D L Q V E E D K V N p.1020
. . . . | 24 . . g.20235
AGCCTGTCCAAGTCTAAGGTCAAGCTGGAGCAGCAGGTGGATGAT | CTGGAGGGATCCCTA c.3120
S L S K S K V K L E Q Q V D D | L E G S L p.1040
. . . . . . g.20295
GAGCAAGAGAAGAAGGTGCGCATGGACCTGGAGCGAGCAAAGCGGAAACTGGAGGGCGAC c.3180
E Q E K K V R M D L E R A K R K L E G D p.1060
. . . . . . g.20355
CTGAAGCTGACCCAGGAGAGCATCATGGACCTGGAAAATGATAAACTGCAGCTGGAAGAA c.3240
L K L T Q E S I M D L E N D K L Q L E E p.1080
. | 25 . . . . . g.20674
AAGCTTAAGAA | GAAGGAGTTTGACATTAATCAGCAGAACAGTAAGATTGAGGATGAGCAG c.3300
K L K K | K E F D I N Q Q N S K I E D E Q p.1100
. . . . | 26 . . g.22849
GTGCTGGCCCTTCAACTACAGAAGAAACTGAAGGAAAACCAG | GCACGCATCGAGGAGCTG c.3360
V L A L Q L Q K K L K E N Q | A R I E E L p.1120
. . . . . . g.22909
GAGGAGGAGCTGGAGGCCGAGCGCACCGCCAGGGCTAAGGTGGAGAAGCTGCGCTCAGAC c.3420
E E E L E A E R T A R A K V E K L R S D p.1140
. . . . . . g.22969
CTGTCTCGGGAGCTGGAGGAGATCAGCGAGCGGCTGGAAGAGGCCGGCGGGGCCACGTCC c.3480
L S R E L E E I S E R L E E A G G A T S p.1160
. . . . . . g.23029
GTGCAGATCGAGATGAACAAGAAGCGCGAGGCCGAGTTCCAGAAGATGCGGCGGGACCTG c.3540
V Q I E M N K K R E A E F Q K M R R D L p.1180
. . . . . . g.23089
GAGGAGGCCACGCTGCAGCACGAGGCCACTGCCGCGGCCCTGCGCAAGAAGCACGCCGAC c.3600
E E A T L Q H E A T A A A L R K K H A D p.1200
. . . . . . g.23149
AGCGTGGCCGAGCTGGGCGAGCAGATCGACAACCTGCAGCGGGTGAAGCAGAAGCTGGAG c.3660
S V A E L G E Q I D N L Q R V K Q K L E p.1220
. . . . . . g.23209
AAGGAGAAGAGCGAGTTCAAGCTGGAGCTGGATGACGTCACCTCCAACATGGAGCAGATC c.3720
K E K S E F K L E L D D V T S N M E Q I p.1240
. | 27 . . . . . g.23606
ATCAAGGCCAAG | GCAAACCTGGAGAAAGTGTCTCGGACGCTGGAGGACCAGGCCAATGAG c.3780
I K A K | A N L E K V S R T L E D Q A N E p.1260
. . . . . . g.23666
TACCGCGTGAAGCTAGAAGAGGCCCAACGCTCCCTCAATGATTTCACCACCCAGCGAGCC c.3840
Y R V K L E E A Q R S L N D F T T Q R A p.1280
. | 28 . . . . g.23807
AAGCTGCAGACCGAGAATG | GAGAGTTGGCCCGGCAGCTAGAGGAAAAGGAGGCGCTAATC c.3900
K L Q T E N G | E L A R Q L E E K E A L I p.1300
. . . . . . g.23867
TCGCAGCTGACCCGGGGGAAGCTCTCTTATACCCAGCAAATGGAGGACCTCAAAAGGCAG c.3960
S Q L T R G K L S Y T Q Q M E D L K R Q p.1320
. | 29 . . . . g.24264
CTGGAGGAGGAGGGCAAG | GCGAAGAACGCCCTGGCCCATGCACTGCAGTCGGCCCGGCAT c.4020
L E E E G K | A K N A L A H A L Q S A R H p.1340
. . . . . . g.24324
GACTGCGACCTGCTGCGGGAGCAGTACGAGGAGGAGACAGAGGCCAAGGCCGAGCTGCAG c.4080
D C D L L R E Q Y E E E T E A K A E L Q p.1360
. . . . . . g.24384
CGCGTCCTGTCCAAGGCCAACTCGGAGGTGGCCCAGTGGAGGACCAAGTATGAGACGGAC c.4140
R V L S K A N S E V A Q W R T K Y E T D p.1380
. . . | 30 . . . g.24964
GCCATTCAGCGGACTGAGGAGCTCGAAGAGGCCAA | AAAGAAGCTGGCCCAGCGGCTGCAG c.4200
A I Q R T E E L E E A K | K K L A Q R L Q p.1400
. . . . . . g.25024
GATGCCGAGGAGGCCGTGGAGGCTGTTAATGCCAAGTGCTCCTCACTGGAGAAGACCAAG c.4260
D A E E A V E A V N A K C S S L E K T K p.1420
. . . . . . g.25084
CACCGGCTACAGAATGAGATAGAGGACTTGATGGTGGACGTAGAGCGCTCCAATGCTGCT c.4320
H R L Q N E I E D L M V D V E R S N A A p.1440
. . . | 31 . . g.25375
GCTGCAGCCCTGGACAAGAAGCAGAGAAACTTTGACAAG | ATCCTGGCCGAGTGGAAGCAG c.4380
A A A L D K K Q R N F D K | I L A E W K Q p.1460
. . . . . . g.25435
AAGTATGAGGAGTCGCAGTCTGAGCTGGAGTCCTCACAGAAGGAGGCTCGCTCCCTCAGC c.4440
K Y E E S Q S E L E S S Q K E A R S L S p.1480
. . . . . . g.25495
ACAGAGCTCTTCAAGCTCAAGAACGCCTACGAGGAGTCCCTGGAGCACCTAGAGACCTTC c.4500
T E L F K L K N A Y E E S L E H L E T F p.1500
. . | 32 . . . . g.25659
AAGCGGGAGAACAAGAACCTTCAGG | AGGAAATCTCGGACCTTACTGAGCAGCTAGGAGAA c.4560
K R E N K N L Q E | E I S D L T E Q L G E p.1520
. . . . . . g.25719
GGAGGAAAGAATGTGCATGAGCTGGAGAAGGTCCGCAAACAGCTGGAGGTGGAGAAGCTG c.4620
G G K N V H E L E K V R K Q L E V E K L p.1540
. . . | 33 . . . g.26684
GAGCTGCAGTCAGCCCTGGAGGAGGCAGAG | GCCTCCCTGGAGCACGAGGAGGGCAAGATC c.4680
E L Q S A L E E A E | A S L E H E E G K I p.1560
. . . . . . g.26744
CTCCGGGCCCAGCTAGAGTTCAACCAGATCAAGGCAGAGATCGAGCGGAAGCTGGCAGAG c.4740
L R A Q L E F N Q I K A E I E R K L A E p.1580
. . . . . . g.26804
AAGGACGAGGAGATGGAACAGGCCAAGCGCAACCACCAGCGGGTGGTGGACTCGCTGCAG c.4800
K D E E M E Q A K R N H Q R V V D S L Q p.1600
. . . . . . g.26864
ACCTCCCTGGATGCAGAGACACGCAGCCGCAACGAGGTCCTGAGGGTGAAGAAGAAGATG c.4860
T S L D A E T R S R N E V L R V K K K M p.1620
. . . . . . g.26924
GAAGGAGACCTCAATGAGATGGAGATCCAGCTCAGCCACGCCAACCGCATGGCTGCCGAG c.4920
E G D L N E M E I Q L S H A N R M A A E p.1640
. . . | 34 . . g.27167
GCCCAGAAGCAAGTCAAGAGCCTCCAGAGCTTGCTGAAG | GACACCCAGATCCAGCTGGAC c.4980
A Q K Q V K S L Q S L L K | D T Q I Q L D p.1660
. . . . . . g.27227
GATGCGGTCCGTGCCAACGACGACCTGAAGGAGAACATCGCCATCGTGGAGCGGCGCAAC c.5040
D A V R A N D D L K E N I A I V E R R N p.1680
. . . . . . g.27287
AACCTGCTGCAGGCTGAGCTGGAGGAGCTGCGTGCCGTGGTGGAGCAGACAGAGCGGTCC c.5100
N L L Q A E L E E L R A V V E Q T E R S p.1700
. . . . . . g.27347
CGGAAGCTGGCGGAGCAGGAGCTGATTGAGACCAGCGAGCGGGTGCAGCTGCTGCATTCC c.5160
R K L A E Q E L I E T S E R V Q L L H S p.1720
| 35 . . . . . . g.28293
CAG | AACACCAGCCTCATCAACCAGAAGAAGAAGATGGAGTCGGATCTGACCCAGCTCCAG c.5220
Q | N T S L I N Q K K K M E S D L T Q L Q p.1740
. . . . . . g.28353
TCGGAAGTGGAGGAGGCAGTGCAGGAGTGCAGAAACGCCGAGGAGAAGGCCAAGAAGGCC c.5280
S E V E E A V Q E C R N A E E K A K K A p.1760
| 36 . . . . . g.28611
ATCACGGAT | GCCGCCATGATGGCAGAGGAGCTGAAGAAGGAGCAGGACACCAGCGCCCAC c.5340
I T D | A A M M A E E L K K E Q D T S A H p.1780
. . . . . . g.28671
CTGGAGCGCATGAAGAAGAACATGGAGCAGACCATTAAGGACCTGCAGCACCGGCTGGAC c.5400
L E R M K K N M E Q T I K D L Q H R L D p.1800
. . . . . . g.28731
GAGGCCGAGCAGATCGCCCTCAAGGGAGGCAAGAAGCAGCTGCAGAAGCTGGAAGCGCGG c.5460
E A E Q I A L K G G K K Q L Q K L E A R p.1820
. . . . . . g.28791
GTGCGGGAGCTGGAGGGTGAGCTGGAGGCCGAGCAGAAGCGCAACGCAGAGTCGGTGAAG c.5520
V R E L E G E L E A E Q K R N A E S V K p.1840
. . . . | 37 . . g.29972
GGCATGAGGAAGAGCGAGCGGCGCATCAAGGAGCTCACCTACCAG | ACAGAGGAAGACAAA c.5580
G M R K S E R R I K E L T Y Q | T E E D K p.1860
. . . . . . g.30032
AAGAACCTGCTGCGGCTACAGGACCTGGTGGACAAGCTGCAACTGAAGGTCAAGGCCTAC c.5640
K N L L R L Q D L V D K L Q L K V K A Y p.1880
. . | 38 . . . . g.30754
AAGCGCCAGGCCGAGGAGGCG | GAGGAGCAAGCCAACACCAACCTGTCCAAGTTCCGCAAG c.5700
K R Q A E E A | E E Q A N T N L S K F R K p.1900
. . . . . . g.30814
GTGCAGCATGAGCTGGATGAGGCAGAGGAGCGGGCGGACATCGCTGAGTCCCAGGTCAAC c.5760
V Q H E L D E A E E R A D I A E S Q V N p.1920
. . . | 39 . . . g.31238
AAGCTTCGAGCCAAGAGCCGTGACATTGGTGCCAAG | CAAAAAATGCACGATGAGGAGTGA c.5820
K L R A K S R D I G A K | Q K M H D E E X p.1939
. . . . . g.31288
cactgcctcgggaacctcactcttgccaacctgtaataaatatgagtgcc c.*50
(downstream sequence)
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