(used for variant description)
(last modified July 4, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_002465.3 in the MYBPC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_031912.1, covering MYBPC1 transcript NM_002465.3.
(upstream sequence)
. . g.5020
agaggcagtataaaagcact c.-121
. . . . . . g.5080
gggtttctccccaactgcttgtcacaccgacctgcaccatctctcgcctgcctgtggggt c.-61
. . . . . . g.5140
ttctgtcaactagtcgtggagggaaggagactctttaaagaataacatcttattgtggcc c.-1
. . | 02 . . . . g.24600
ATGCCAGAACCCACTAAGAAAGAGG | AAAATGAAGTGCCAGCCCCAGCCCCACCCCCGGAA c.60
M P E P T K K E E | N E V P A P A P P P E p.20
| 03 . . . . | 04 . . g.36958
G | AACCAAGTAAAGAGAAGGAGGCCGGAACTACACCAGCAAAAG | ATGAAGAGGAAGTCTCC c.120
E | P S K E K E A G T T P A K D | E E E V S p.40
. . | 05 . . . | 06 g.39505
CCGCCTAGCGCCTTGCCTCCAG | GTTTGGGTAGTCGGGCCCTGGAGAGAAAAGATTCAG | AC c.180
P P S A L P P G | L G S R A L E R K D S D | p.60
. . . . . . g.39565
TGGACCCTTGTCGAAACTCCTCCTGGGGAGGAACAAGCCAAGCAGAATGCCAACTCCCAG c.240
W T L V E T P P G E E Q A K Q N A N S Q p.80
. . . . | 07 . g.41651
CTGTCCATCTTGTTCATTGAAAAACCTCAAGGAGGAACAGTGAAAGTTG | GTGAAGATATC c.300
L S I L F I E K P Q G G T V K V G | E D I p.100
. . . . . . g.41711
ACCTTCATAGCCAAAGTCAAGGCTGAAGATCTTCTGAGAAAACCCACTATCAAATGGTTC c.360
T F I A K V K A E D L L R K P T I K W F p.120
. . . . . . g.41771
AAAGGAAAATGGATGGACCTGGCCAGCAAAGCCGGGAAGCACCTTCAGCTGAAGGAAACC c.420
K G K W M D L A S K A G K H L Q L K E T p.140
. | 08 . . . . g.42132
TTTGAGAGGCACAGTCGG | GTGTACACATTTGAGATGCAGATCATCAAGGCCAAAGATAAC c.480
F E R H S R | V Y T F E M Q I I K A K D N p.160
. . . . . . g.42192
TTTGCAGGAAATTACAGATGCGAGGTCACCTATAAGGATAAGTTTGACAGCTGTTCATTT c.540
F A G N Y R C E V T Y K D K F D S C S F p.180
. | 09 . . . . . g.44667
GATCTTGAAGTGCACG | AATCTACTGGGACTACTCCAAACATTGACATCAGATCTGCTTTC c.600
D L E V H E | S T G T T P N I D I R S A F p.200
| 10 . . . . . g.46793
AAGAGAAG | TGGAGAAGGTCAAGAGGATGCAGGAGAACTTGACTTTAGTGGTCTCCTGAAA c.660
K R S | G E G Q E D A G E L D F S G L L K p.220
| 11 . . . . . . g.52543
CGTAG | GGAGGTGAAGCAGCAGGAGGAAGAACCCCAGGTGGACGTATGGGAGTTGCTGAAG c.720
R R | E V K Q Q E E E P Q V D V W E L L K p.240
. . . . . . g.52603
AACGCGAAACCCAGTGAGTACGAGAAGATCGCCTTCCAGTATGGAATCACCGACCTGCGC c.780
N A K P S E Y E K I A F Q Y G I T D L R p.260
. . . . . | 12 . g.54741
GGCATGCTCAAGCGACTCAAGCGCATGCGCAGAGAGGAGAAGAAGAGCGCAG | CTTTTGCA c.840
G M L K R L K R M R R E E K K S A A | F A p.280
. . . . . . g.54801
AAAATTCTTGATCCTGCATATCAGGTTGACAAAGGAGGCAGAGTGAGGTTTGTTGTGGAG c.900
K I L D P A Y Q V D K G G R V R F V V E p.300
. . . . . . g.54861
CTGGCAGATCCAAAGTTGGAGGTGAAATGGTATAAAAATGGTCAAGAAATTCGACCCAGT c.960
L A D P K L E V K W Y K N G Q E I R P S p.320
| 13 . . . . . . g.56887
ACCAA | ATACATCTTTGAACACAAAGGATGCCAGAGAATCCTGTTTATCAATAACTGTCAG c.1020
T K | Y I F E H K G C Q R I L F I N N C Q p.340
. . . . . . g.56947
ATGACAGATGATTCAGAGTATTATGTGACAGCCGGTGATGAGAAATGTTCCACTGAGCTC c.1080
M T D D S E Y Y V T A G D E K C S T E L p.360
. | 14 . . . . . g.58164
TTCGTAAGAG | AGCCTCCAATTATGGTGACCAAACAGCTGGAAGATACAACTGCTTATTGT c.1140
F V R E | P P I M V T K Q L E D T T A Y C p.380
. . . . . | 15 . g.59333
GGGGAGAGAGTGGAATTAGAATGTGAGGTGTCTGAAGATGATGCCAATGTAAAATG | GTTT c.1200
G E R V E L E C E V S E D D A N V K W | F p.400
. . . . . . g.59393
AAGAATGGTGAAGAGATTATCCCTGGTCCAAAATCAAGATACCGAATTAGAGTTGAGGGT c.1260
K N G E E I I P G P K S R Y R I R V E G p.420
. . . . . . g.59453
AAAAAACACATCTTGATCATAGAGGGAGCAACAAAGGCTGATGCTGCAGAATATTCAGTA c.1320
K K H I L I I E G A T K A D A A E Y S V p.440
. . . . | 16 . . g.61317
ATGACAACAGGAGGACAATCATCTGCTAAACTTAGTGTTGACT | TGAAACCTCTGAAGATT c.1380
M T T G G Q S S A K L S V D L | K P L K I p.460
. . . . . . g.61377
TTGACACCTCTGACTGATCAGACTGTAAATCTTGGAAAAGAAATCTGCCTGAAGTGTGAA c.1440
L T P L T D Q T V N L G K E I C L K C E p.480
. . . . . . g.61437
ATCTCTGAAAACATACCAGGAAAATGGACTAAAAATGGCCTACCTGTTCAGGAGAGTGAC c.1500
I S E N I P G K W T K N G L P V Q E S D p.500
. . | 17 . . . . g.62781
CGTCTAAAGGTGGTTCACAAGGGAAG | GATCCACAAGTTAGTGATAGCCAATGCCCTCACT c.1560
R L K V V H K G R | I H K L V I A N A L T p.520
. . . . . . g.62841
GAAGATGAAGGTGATTATGTATTTGCACCTGATGCCTACAATGTTACTCTGCCTGCCAAA c.1620
E D E G D Y V F A P D A Y N V T L P A K p.540
. | 18 . . . . . g.63231
GTTCATGTTATTG | ATCCTCCTAAGATCATCCTGGATGGTCTTGATGCTGACAACACAGTG c.1680
V H V I D | P P K I I L D G L D A D N T V p.560
. . . . . . g.63291
ACAGTGATTGCAGGAAACAAGCTTCGTCTTGAGATCCCCATCAGCGGAGAACCACCTCCT c.1740
T V I A G N K L R L E I P I S G E P P P p.580
. . | 19. . . . g.69774
AAAGCCATGTGGAGCCGGGGAGATAAG | GCTATTATGGAAGGCAGTGGCCGGATAAGAACA c.1800
K A M W S R G D K | A I M E G S G R I R T p.600
. . . . . . g.69834
GAATCTTACCCTGATAGCAGCACTCTGGTCATTGATATAGCTGAAAGAGATGACTCTGGT c.1860
E S Y P D S S T L V I D I A E R D D S G p.620
. . . . . . g.69894
GTTTACCACATCAATCTGAAAAACGAAGCTGGAGAGGCACATGCAAGCATCAAGGTTAAA c.1920
V Y H I N L K N E A G E A H A S I K V K p.640
| 20. . . . . . g.71280
GTTGTGG | ACTTCCCTGATCCTCCAGTGGCACCGACTGTGACAGAGGTGGGAGATGACTGG c.1980
V V D | F P D P P V A P T V T E V G D D W p.660
. . . . . | 21 . g.72435
TGTATCATGAACTGGGAGCCTCCTGCCTACGACGGAGGCTCTCCAATCCTAG | GATATTTT c.2040
C I M N W E P P A Y D G G S P I L G | Y F p.680
. . . . . . g.72495
ATTGAGAGGAAGAAGAAACAAAGCTCCAGGTGGATGAGGCTGAATTTTGATCTCTGCAAA c.2100
I E R K K K Q S S R W M R L N F D L C K p.700
. . . . . . g.72555
GAAACAACTTTTGAGCCCAAGAAGATGATTGAAGGTGTGGCCTATGAGGTCCGCATCTTT c.2160
E T T F E P K K M I E G V A Y E V R I F p.720
. . . . . . g.72615
GCAGTCAATGCCATTGGCATCTCCAAGCCCAGTATGCCCTCCAGGCCTTTTGTTCCTTTG c.2220
A V N A I G I S K P S M P S R P F V P L p.740
| 22 . . . . . . g.73554
G | CTGTAACAAGCCCTCCTACTCTTCTGACTGTGGACTCTGTCACTGACACGACTGTCACG c.2280
A | V T S P P T L L T V D S V T D T T V T p.760
. . . . . . g.73614
ATGAGGTGGCGCCCCCCAGACCACATTGGTGCAGCAGGTTTAGATGGCTATGTGCTAGAG c.2340
M R W R P P D H I G A A G L D G Y V L E p.780
. | 23 . . . . . g.77845
TATTGCTTTGAAGGAA | CTGAGGACTGGATAGTTGCAAACAAAGATCTGATTGACAAGACG c.2400
Y C F E G T | E D W I V A N K D L I D K T p.800
. . . . . . g.77905
AAGTTCACCATCACAGGTCTGCCAACAGATGCAAAGATCTTTGTGCGTGTGAAGGCTGTT c.2460
K F T I T G L P T D A K I F V R V K A V p.820
. . . . . . g.77965
AATGCAGCTGGTGCCAGCGAGCCCAAGTACTATTCTCAGCCCATTCTCGTGAAGGAAATC c.2520
N A A G A S E P K Y Y S Q P I L V K E I p.840
| 24 . . . . . . g.80446
ATAG | AACCTCCAAAGATTCGCATTCCAAGACACCTGAAGCAAACCTATATCCGCAGAGTT c.2580
I E | P P K I R I P R H L K Q T Y I R R V p.860
. . . | 25 . . . g.83523
GGAGAAGCTGTCAATCTGGTTATACCTTTCCAG | GGAAAACCAAGACCAGAATTAACTTGG c.2640
G E A V N L V I P F Q | G K P R P E L T W p.880
. . . . . . g.83583
AAGAAGGATGGTGCAGAAATTGATAAGAATCAAATAAACATTCGCAACTCTGAGACTGAT c.2700
K K D G A E I D K N Q I N I R N S E T D p.900
. . . . . . g.83643
ACAATCATATTTATTAGAAAAGCAGAGAGGAGCCACTCTGGGAAATATGATCTGCAAGTC c.2760
T I I F I R K A E R S H S G K Y D L Q V p.920
. . . . | 26 . g.85372
AAAGTGGACAAATTCGTGGAGACCGCATCAATTGACATCCAGATCATTG | ACCGTCCAGGT c.2820
K V D K F V E T A S I D I Q I I D | R P G p.940
. . . . . . g.85432
CCACCCCAAATTGTGAAGATTGAGGATGTCTGGGGAGAAAATGTCGCTCTCACATGGACT c.2880
P P Q I V K I E D V W G E N V A L T W T p.960
. . . . . . g.85492
CCACCAAAGGATGATGGAAATGCTGCTATCACAGGCTATACCATTCAGAAGGCTGACAAG c.2940
P P K D D G N A A I T G Y T I Q K A D K p.980
| 27 . . . . . g.87355
AAGAGCATG | GAATGGTTTACTGTCATTGAGCATTATCATCGAACCAGTGCCACCATTACT c.3000
K S M | E W F T V I E H Y H R T S A T I T p.1000
. . . . . . g.87415
GAATTGGTCATAGGGAATGAATATTACTTCCGGGTCTTTTCTGAAAACATGTGTGGCCTC c.3060
E L V I G N E Y Y F R V F S E N M C G L p.1020
. . . . | 28 . g.88182
AGTGAGGATGCCACCATGACTAAAGAGAGTGCAGTGATCGCCAGGGATG | GTAAAATCTAC c.3120
S E D A T M T K E S A V I A R D G | K I Y p.1040
. . . . . . g.88242
AAAAATCCAGTGTATGAAGACTTTGATTTCTCAGAGGCACCCATGTTTACTCAGCCTTTG c.3180
K N P V Y E D F D F S E A P M F T Q P L p.1060
. . . . . . g.88302
GTTAACACCTATGCCATAGCTGGTTACAATGCCACCCTAAACTGCAGTGTGAGAGGAAAT c.3240
V N T Y A I A G Y N A T L N C S V R G N p.1080
| 29 . . . . . . g.90466
CCTAAG | CCTAAAATAACCTGGATGAAAAACAAAGTTGCTATTGTGGATGATCCAAGATAC c.3300
P K | P K I T W M K N K V A I V D D P R Y p.1100
. . . . . . g.90526
AGGATGTTCAGCAACCAGGGAGTCTGTACCCTGGAAATTCGCAAGCCCAGCCCCTATGAT c.3360
R M F S N Q G V C T L E I R K P S P Y D p.1120
. . . . . . g.90586
GGAGGCACTTACTGCTGCAAAGCAGTCAATGACCTTGGGACAGTGGAGATTGAATGCAAA c.3420
G G T Y C C K A V N D L G T V E I E C K p.1140
. | 30 . . . . . g.92720
CTGGAGGTGAAAG | TGATATATCAAGGAGTAAATACCCCTGGACAACCAGTCTTCCTGGAG c.3480
L E V K V | I Y Q G V N T P G Q P V F L E p.1160
. | 31 . . g.94499
GGGCAGCAACAG | TCATTGCACAATAAGGATTTTTGA | c.3517
G Q Q Q | S L H N K D F X p.1171
. | 32 . . . . g.95716
atgtataatatcatctaag | gtgggctctccttctgcagactcctcttgcaaggcgtacct c.*60
. . . . . . g.95776
ccaaacataattgattcgtatctgcgagacttacactcaagcaatcctgaggaatactga c.*120
. . . . . . g.95836
gggagggcctggctactgtctctctgcactctgctgctttgaaatctggttgaaatgaga c.*180
. . . . . . g.95896
aaaagcattttctgttttcccaccaggcccccaagtgtggtctttttctttcctcctaat c.*240
. . . . . . g.95956
gttgaagagaaaaaaaaaaaaaaaagtttgcccagattgcttaattaaaaattgcaaaca c.*300
. g.95974
aaatctcatttgaagtca c.*318
(downstream sequence)
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