(used for variant description)
(last modified October 29, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000859.2 in the HMGCR gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011449.1, covering HMGCR transcript NM_000859.2.
(upstream sequence)
. . . g.5036
ctcttattggtcgaaggctcgtccagctccgagcgt c.-121
. . . . . . g.5096
gcgtaaggtgagggctccttccgctccgcgactgcgttaactggagccaggctgagcgtc c.-61
. . . . | 02 . . g.10438
ggcgccggggttcggtggcctctagtgagatctggag | gatccaaggattctgtagctaca c.-1
. . . . . . g.10498
ATGTTGTCAAGACTTTTTCGAATGCATGGCCTCTTTGTGGCCTCCCATCCCTGGGAAGTC c.60
M L S R L F R M H G L F V A S H P W E V p.20
. . . . . . g.10558
ATAGTGGGGACAGTGACACTGACCATCTGCATGATGTCCATGAACATGTTTACTGGTAAC c.120
I V G T V T L T I C M M S M N M F T G N p.40
. . . . | 03 . . g.11700
AATAAGATCTGTGGTTGGAATTATGAATGTCCAAAGTTTGAAGAG | GATGTTTTGAGCAGT c.180
N K I C G W N Y E C P K F E E | D V L S S p.60
. . . . . . g.11760
GACATTATAATTCTGACAATAACACGATGCATAGCCATCCTGTATATTTACTTCCAGTTC c.240
D I I I L T I T R C I A I L Y I Y F Q F p.80
. . . | 04. . . g.12100
CAGAATTTACGTCAACTTGGATCAAAATATATTTTGG | GTATTGCTGGCCTTTTCACAATT c.300
Q N L R Q L G S K Y I L G | I A G L F T I p.100
. . . . . . g.12160
TTCTCAAGTTTTGTATTCAGTACAGTTGTCATTCACTTCTTAGACAAAGAATTGACAGGC c.360
F S S F V F S T V V I H F L D K E L T G p.120
| 05 . . . . . . g.13461
TTGAA | TGAAGCTTTGCCCTTTTTCCTACTTTTGATTGACCTTTCCAGAGCAAGCACATTA c.420
L N | E A L P F F L L L I D L S R A S T L p.140
. . . | 06 . . . g.15066
GCAAAGTTTGCCCTCAGTTCCAACTCACAG | GATGAAGTAAGGGAAAATATTGCTCGTGGA c.480
A K F A L S S N S Q | D E V R E N I A R G p.160
. . . . . . g.15126
ATGGCAATTTTAGGTCCTACGTTTACCCTCGATGCTCTTGTTGAATGTCTTGTGATTGGA c.540
M A I L G P T F T L D A L V E C L V I G p.180
. | 07 . . . . . g.17918
GTTGGTACCATGTCAG | GGGTACGTCAGCTTGAAATTATGTGCTGCTTTGGCTGCATGTCA c.600
V G T M S G | V R Q L E I M C C F G C M S p.200
. . . . . . g.17978
GTTCTTGCCAACTACTTCGTGTTCATGACTTTCTTCCCAGCTTGTGTGTCCTTGGTATTA c.660
V L A N Y F V F M T F F P A C V S L V L p.220
| 08 . . . . . . g.18147
GAG | CTTTCTCGGGAAAGCCGCGAGGGTCGTCCAATTTGGCAGCTCAGCCATTTTGCCCGA c.720
E | L S R E S R E G R P I W Q L S H F A R p.240
. . . . . . g.18207
GTTTTAGAAGAAGAAGAAAATAAGCCGAATCCTGTAACTCAGAGGGTCAAGATGATTATG c.780
V L E E E E N K P N P V T Q R V K M I M p.260
| 09 . . . . . . g.18681
| TCTCTAGGCTTGGTTCTTGTTCATGCTCACAGTCGCTGGATAGCTGATCCTTCTCCTCAA c.840
| S L G L V L V H A H S R W I A D P S P Q p.280
. . . . . . g.18741
AACAGTACAGCAGATACTTCTAAGGTTTCATTAGGACTGGATGAAAATGTGTCCAAGAGA c.900
N S T A D T S K V S L G L D E N V S K R p.300
. . . . | 10 . . g.18919
ATTGAACCAAGTGTTTCCCTCTGGCAGTTTTATCTCTCTAA | AATGATCAGCATGGATATT c.960
I E P S V S L W Q F Y L S K | M I S M D I p.320
. . . . . . g.18979
GAACAAGTTATTACCCTAAGTTTAGCTCTCCTTCTGGCTGTCAAGTACATCTTCTTTGAA c.1020
E Q V I T L S L A L L L A V K Y I F F E p.340
. . . . . . g.19039
CAAACAGAGACAGAATCTACACTCTCATTAAAAAACCCTATCACATCTCCTGTAGTGACA c.1080
Q T E T E S T L S L K N P I T S P V V T p.360
. . . . . . g.19099
CAAAAGAAAGTCCCAGACAATTGTTGTAGACGTGAACCTATGCTGGTCAGAAATAACCAG c.1140
Q K K V P D N C C R R E P M L V R N N Q p.380
. . . . | 11 . g.19267
AAATGTGATTCAGTAGAGGAAGAGACAGGGATAAACCGAGAAAGAAAAG | TTGAGGTTATA c.1200
K C D S V E E E T G I N R E R K V | E V I p.400
. . . . . . g.19327
AAACCCTTAGTGGCTGAAACAGATACCCCAAACAGAGCTACATTTGTGGTTGGTAACTCC c.1260
K P L V A E T D T P N R A T F V V G N S p.420
. . . . . . g.19387
TCCTTACTCGATACTTCATCAGTACTGGTGACACAGGAACCTGAAATTGAACTTCCCAGG c.1320
S L L D T S S V L V T Q E P E I E L P R p.440
. . . . | 12 . g.22347
GAACCTCGGCCTAATGAAGAATGTCTACAGATACTTGGGAATGCAGAG | AAAGGTGCAAAA c.1380
E P R P N E E C L Q I L G N A E | K G A K p.460
. . . . . . g.22407
TTCCTTAGTGATGCTGAGATCATCCAGTTAGTCAATGCTAAGCATATCCCAGCCTACAAG c.1440
F L S D A E I I Q L V N A K H I P A Y K p.480
. . . . . . g.22467
TTGGAAACTCTGATGGAAACTCATGAGCGTGGTGTATCTATTCGCCGACAGTTACTTTCC c.1500
L E T L M E T H E R G V S I R R Q L L S p.500
. . . . . . g.22527
AAGAAGCTTTCAGAACCTTCTTCTCTCCAGTACCTACCTTACAGGGATTATAATTACTCC c.1560
K K L S E P S S L Q Y L P Y R D Y N Y S p.520
| 13 . . . . . . g.22945
TTG | GTGATGGGAGCTTGTTGTGAGAATGTTATTGGATATATGCCCATCCCTGTTGGAGTG c.1620
L | V M G A C C E N V I G Y M P I P V G V p.540
. . . . . . g.23005
GCAGGACCCCTTTGCTTAGATGAAAAAGAATTTCAGGTTCCAATGGCAACAACAGAAGGT c.1680
A G P L C L D E K E F Q V P M A T T E G p.560
. . . . | 14 . . g.23215
TGTCTTGTGGCCAGCACCAATAGAGGCTGCAGAGCAATAGGT | CTTGGTGGAGGTGCCAGC c.1740
C L V A S T N R G C R A I G | L G G G A S p.580
. . . . . . g.23275
AGCCGAGTCCTTGCAGATGGGATGACTCGTGGCCCAGTTGTGCGTCTTCCACGTGCTTGT c.1800
S R V L A D G M T R G P V V R L P R A C p.600
. . . . . . g.23335
GACTCTGCAGAAGTGAAAGCCTGGCTCGAAACATCTGAAGGGTTCGCAGTGATAAAGGAG c.1860
D S A E V K A W L E T S E G F A V I K E p.620
. . | 15 . . . . g.24215
GCATTTGACAGCACTAGCAG | ATTTGCACGTCTACAGAAACTTCATACAAGTATAGCTGGA c.1920
A F D S T S R | F A R L Q K L H T S I A G p.640
. . . . . . g.24275
CGCAACCTTTATATCCGTTTCCAGTCCAGGTCAGGGGATGCCATGGGGATGAACATGATT c.1980
R N L Y I R F Q S R S G D A M G M N M I p.660
| 16 . . . . . . g.26543
TCAAAG | GGTACAGAGAAAGCACTTTCAAAACTTCACGAGTATTTCCCTGAAATGCAGATT c.2040
S K | G T E K A L S K L H E Y F P E M Q I p.680
. . . . . . g.26603
CTAGCCGTTAGTGGTAACTATTGTACTGACAAGAAACCTGCTGCTATAAATTGGATAGAG c.2100
L A V S G N Y C T D K K P A A I N W I E p.700
. . . . . | 17. g.27005
GGAAGAGGAAAATCTGTTGTTTGTGAAGCTGTCATTCCAGCCAAGGTTGTCAGAGAA | GTA c.2160
G R G K S V V C E A V I P A K V V R E | V p.720
. . . . . . g.27065
TTAAAGACTACCACAGAGGCTATGATTGAGGTCAACATTAACAAGAATTTAGTGGGCTCT c.2220
L K T T T E A M I E V N I N K N L V G S p.740
. . . . . . g.27125
GCCATGGCTGGGAGCATAGGAGGCTACAACGCCCATGCAGCAAACATTGTCACCGCCATC c.2280
A M A G S I G G Y N A H A A N I V T A I p.760
. | 18 . . . . g.27272
TACATTGCCTGTGGACAG | GATGCAGCACAGAATGTTGGTAGTTCAAACTGTATTACTTTA c.2340
Y I A C G Q | D A A Q N V G S S N C I T L p.780
. . . . . . g.27332
ATGGAAGCAAGTGGTCCCACAAATGAAGATTTATATATCAGCTGCACCATGCCATCTATA c.2400
M E A S G P T N E D L Y I S C T M P S I p.800
. . . . . | 19. g.27820
GAGATAGGAACGGTGGGTGGTGGGACCAACCTACTACCTCAGCAAGCCTGTTTGCAG | ATG c.2460
E I G T V G G G T N L L P Q Q A C L Q | M p.820
. . . . . . g.27880
CTAGGTGTTCAAGGAGCATGCAAAGATAATCCTGGGGAAAATGCCCGGCAGCTTGCCCGA c.2520
L G V Q G A C K D N P G E N A R Q L A R p.840
. . . . . . g.27940
ATTGTGTGTGGGACCGTAATGGCTGGGGAATTGTCACTTATGGCAGCATTGGCAGCAGGA c.2580
I V C G T V M A G E L S L M A A L A A G p.860
. . . | 20 . . . g.28148
CATCTTGTCAAAAGTCACATGATTCACAACAG | GTCGAAGATCAATTTACAAGACCTCCAA c.2640
H L V K S H M I H N R | S K I N L Q D L Q p.880
. . g.28175
GGAGCTTGCACCAAGAAGACAGCCTGA c.2667
G A C T K K T A X p.888
. . . . . . g.28235
atagcccgacagttctgaactggaacatgggcattgggttctaaaggactaacataaaat c.*60
. . . . . . g.28295
ctgtgaattaaaaaagctcaatgcattgtcttgtggaggatgaatagatgtgatcactga c.*120
. . . . . . g.28355
gacagccacttggtttttggctctttcagagaggtctcaggttctttccatgcagactcc c.*180
. . . . . . g.28415
tcagatctgaacacagtttagtgctttacatgctgtgctctttgaagagatttcaacaag c.*240
. . . . . . g.28475
aatattgtatgttaaagcatcagagatggtaatctacagctcacctctgaaggcaaatat c.*300
. . . . . . g.28535
aagctgggaaaaaagttttgatgaaattcttgaagttcatggtgatcagtgcaattgacc c.*360
. . . . . . g.28595
ttctccctcactcctgccagttgaaaatggatttttaaattatactgtagctgatgaaac c.*420
. . . . . . g.28655
tcctgattttgtagttaatttattaagtctgggatgtagaacttcaagaagtaagagcta c.*480
. . . . . . g.28715
agttctaagttcatgtttgtaaattaatacttcatttggtgctggtctattttgattttg c.*540
. . . . . . g.28775
gggggtaatcagcattattcttcagaaggggacctgttttcttcaagggaagaaacactc c.*600
. . . . . . g.28835
ttattcccaaactacagaataatgtgttaaacatgctaaatagttctatcaggaaaacaa c.*660
. . . . . . g.28895
atcactgtatttatctccgcaggctatttgttcagagaggccttttgtttaaatataaat c.*720
. . . . . . g.28955
gtttaaatataaatgtttgtctggattggctataacatgtctttcagcattaggctttta c.*780
. . . . . . g.29015
agaaacacagggttttgtattctttactaaagatatcagagctcttaatgttgcttagat c.*840
. . . . . . g.29075
gagggtgactgtcaagtacaagcaagactgggaccttagaaatcattgtagaaacacagt c.*900
. . . . . . g.29135
tttgaaagaaaaataccatgtctctaagccaactttaattgcttaaaagacatttttatt c.*960
. . . . . . g.29195
tagttgaaaaatctagttttttttgtaaactgtatcaaatctgtatatgttgtaataaaa c.*1020
. . . . . . g.29255
cttatgctagtttattggaagtgttcaagaaataaaaatcaacttgtgtactgataaaat c.*1080
. . . . . . g.29315
actctagcctgggccagagaagataatgttctttaatgttgtccaggaaaccctggcttg c.*1140
. . . . . . g.29375
cttgccgagcctaatgaaagggaaagtcagctttcagagccagtgaaggagccacgtgaa c.*1200
. . . . . . g.29435
tggccctagaactgtgcctagttcctgtggccaggaggttggtgactgaaacattcacac c.*1260
. . . . . . g.29495
agggctctttgatggacccacgaacgctcttagctttctcagggggtcagcagagttatt c.*1320
. . . . . . g.29555
gaatcttaattttttttaatgtacaagttttgtataaataataaagaactccttattttg c.*1380
. . . . . . g.29615
tattacatctaatgcttcaagtgttgctcttggaaagctgatgatgtctcttgtagaaga c.*1440
. . . . . . g.29675
tggactctgaaaaacattccaggaaaccatggcagcatggagagcctcttagtgattgtg c.*1500
. . . . . . g.29735
tctgcattgttattgtggaagatttaccttttctgttgtacgtaaagcttaaattgcttt c.*1560
. . . . . . g.29795
tgttgtgactttttagccagtgactttttctgagcttttcatggaagtggcagtgaaaaa c.*1620
. . . . . . g.29855
tatgttgagtgttcattttagtgactgtaattaatatcttgctggattaatgttttgtac c.*1680
. . . . . . g.29915
aattactaaattgtatacattttgttatagaatacttttttctagtttcagtaaataatg c.*1740
. g.29934
aaaaggaagttaataccaa c.*1759
(downstream sequence)
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