(used for variant description)
(last modified March 13, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_024596.3 in the MCPH1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering MCPH1 transcript NM_024596.3.
(upstream sequence)
. g.5016
gcatgcccagtgcccg c.-61
. . . . . . g.5076
cgcgcgccgccaggctcgcaagcaccgcgtaggccagctggccggatcccgccgtctgtc c.-1
. . | 02 . . . . g.7725
ATGGCGGCCCCCATCCTGAAAG | ATGTAGTGGCCTATGTTGAAGTGTGGTCATCCAATGGA c.60
M A A P I L K D | V V A Y V E V W S S N G p.20
. . . . . | 03 . g.13179
ACAGAAAATTATTCAAAGACATTTACAACACAGCTTGTGGATATGGGGGCAAAG | GTTTCA c.120
T E N Y S K T F T T Q L V D M G A K | V S p.40
. . . . . . g.13239
AAAACTTTTAACAAACAAGTAACTCACGTTATCTTCAAAGATGGCTACCAGAGCACTTGG c.180
K T F N K Q V T H V I F K D G Y Q S T W p.60
. . . . . | 04 . g.29914
GACAAAGCTCAGAAGAGAGGCGTAAAGCTCGTTTCGGTGCTCTGGGTGGAAAA | ATGCAGG c.240
D K A Q K R G V K L V S V L W V E K | C R p.80
. . . . . . g.29974
ACAGCTGGAGCACACATTGATGAATCATTGTTCCCTGCAGCTAATATGAATGAACACTTA c.300
T A G A H I D E S L F P A A N M N E H L p.100
. . | 05 . . . . g.34495
TCAAGCCTAATTAAAAAAAAA | CGTAAATGTATGCAGCCCAAAGATTTTAATTTTAAAACA c.360
S S L I K K K | R K C M Q P K D F N F K T p.120
. . . . . . g.34555
CCAGAAAATGATAAGAGATTTCAGAAGAAATTTGAGAAAATGGCTAAAGAGCTACAAAGG c.420
P E N D K R F Q K K F E K M A K E L Q R p.140
. | 06 . . . . . g.37405
CAAAAAACAAATCTAG | ATGATGATGTACCTATTCTCTTATTTGAATCTAATGGTTCATTA c.480
Q K T N L D | D D V P I L L F E S N G S L p.160
. . . . . . g.37465
ATATATACTCCCACAATTGAAATTAATAGTAGGCACCACAGCGCAATGGAGAAGAGATTA c.540
I Y T P T I E I N S R H H S A M E K R L p.180
. . . . | 07 . . g.40495
CAAGAGATGAAGGAGAAAAGGGAAAATCTTTCCCCCACCT | CTTCCCAAATGATTCAGCAG c.600
Q E M K E K R E N L S P T S | S Q M I Q Q p.200
. . . . . . g.40555
TCTCATGATAATCCAAGTAACTCTCTGTGTGAAGCACCTTTGAACATTTCACGTGATACT c.660
S H D N P S N S L C E A P L N I S R D T p.220
. | 08 . . . . . g.42851
TTGTGTTCAG | ATGAATACTTTGCTGGTGGCTTACACTCATCTTTTGATGATCTTTGTGGA c.720
L C S D | E Y F A G G L H S S F D D L C G p.240
. . . . . . g.42911
AACTCAGGATGTGGAAATCAGGAAAGGAAGTTGGAAGGATCCATTAATGACATTAAAAGT c.780
N S G C G N Q E R K L E G S I N D I K S p.260
. . . . . . g.42971
GATGTGTGTATTTCTTCACTTGTATTGAAAGCAAATAATATTCATTCATCACCATCTTTC c.840
D V C I S S L V L K A N N I H S S P S F p.280
. . . . . . g.43031
ACTCACCTCGATAAATCAAGTCCTCAGAAATTTCTGAGTAATCTTTCAAAGGAAGAAATA c.900
T H L D K S S P Q K F L S N L S K E E I p.300
. . . . . . g.43091
AACTTGCAAAGAAATATTGCAGGTAAAGTAGTCACCCCTGACCAAAAGCAGGCTGCAGGT c.960
N L Q R N I A G K V V T P D Q K Q A A G p.320
. . . . . . g.43151
ATGTCTCAGGAGACGTTTGAAGAGAAGTATCGTTTGTCTCCTACCTTATCTTCAACAAAA c.1020
M S Q E T F E E K Y R L S P T L S S T K p.340
. . . . . . g.43211
GGCCACCTTTTGATACATTCAAGACCCAGGAGTTCCTCAGTAAAGAGAAAAAGAGTATCA c.1080
G H L L I H S R P R S S S V K R K R V S p.360
. . . . . . g.43271
CATGGCTCCCATTCACCTCCGAAGGAAAAATGCAAGAGAAAGAGGAGCACCAGGAGATCT c.1140
H G S H S P P K E K C K R K R S T R R S p.380
. . . . . . g.43331
ATCATGCCGAGGCTGCAGCTGTGCAGGTCGGAAGACAGGCTGCAGCACGTGGCGGGACCT c.1200
I M P R L Q L C R S E D R L Q H V A G P p.400
. . . . . . g.43391
GCCCTGGAGGCTCTTAGCTGTGGGGAGTCTTCATATGATGACTATTTTTCACCTGATAAT c.1260
A L E A L S C G E S S Y D D Y F S P D N p.420
. . . . . . g.43451
CTTAAGGAAAGGTATTCAGAGAATCTTCCTCCTGAATCTCAGCTGCCATCAAGCCCTGCT c.1320
L K E R Y S E N L P P E S Q L P S S P A p.440
. . . . . . g.43511
CAGTTGAGCTGCAGAAGTCTTTCTAAGAAGGAGAGAACAAGCATATTTGAAATGTCTGAT c.1380
Q L S C R S L S K K E R T S I F E M S D p.460
. . . . . . g.43571
TTTTCCTGCGTTGGCAAAAAAACCAGAACAGTTGACATTACCAATTTCACAGCAAAAACC c.1440
F S C V G K K T R T V D I T N F T A K T p.480
. . . . . . g.43631
ATCTCCAGTCCTCGGAAAACTGGAAATGGTGAAGGCCGTGCAACTTCGAGTTGCGTGACT c.1500
I S S P R K T G N G E G R A T S S C V T p.500
. . . . . . g.43691
TCTGCCCCTGAAGAAGCCCTAAGGTGTTGTAGACAGGCTGGGAAAGAAGACGCATGCCCA c.1560
S A P E E A L R C C R Q A G K E D A C P p.520
. . . . . . g.43751
GAGGGAAATGGCTTTTCTTACACCATTGAGGACCCTGCTCTTCCAAAAGGACATGATGAT c.1620
E G N G F S Y T I E D P A L P K G H D D p.540
. . . . . . g.43811
GATTTAACTCCTTTGGAAGGAAGCCTTGAAGAAATGAAAGAAGCGGTTGGTCTGAAAAGC c.1680
D L T P L E G S L E E M K E A V G L K S p.560
. . . . . . g.43871
ACACAGAACAAAGGTACCACTTCCAAAATATCAAACTCCTCTGAAGGCGAAGCCCAGAGT c.1740
T Q N K G T T S K I S N S S E G E A Q S p.580
. . . . . . g.43931
GAACATGAGCCATGTTTTATAGTTGACTGTAACATGGAGACGTCTACAGAAGAGAAGGAA c.1800
E H E P C F I V D C N M E T S T E E K E p.600
. . | 09 . . . . g.53586
AACTTACCCGGAGGATACAGTGGAA | GTGTTAAAAATAGACCAACAAGGCATGATGTTTTA c.1860
N L P G G Y S G S | V K N R P T R H D V L p.620
. . . . . . g.53646
GATGACTCATGTGACGGCTTTAAGGACCTCATCAAACCTCATGAGGAATTGAAGAAAAGT c.1920
D D S C D G F K D L I K P H E E L K K S p.640
. | 10 . . . . | 11 . g.79129
GGGAGAGGCAAAAAG | CCAACAAGAACATTAGTCATGACAAGCATGCCATCTGA | AAAGCAG c.1980
G R G K K | P T R T L V M T S M P S E | K Q p.660
. . . . . . g.79189
AATGTCGTCATCCAGGTTGTGGATAAATTGAAAGGCTTTTCAATTGCACCAGACGTCTGT c.2040
N V V I Q V V D K L K G F S I A P D V C p.680
. . . . . . g.79249
GAGACCACGACTCACGTGCTTTCCGGGAAGCCACTTCGCACCCTGAATGTGCTGCTGGGA c.2100
E T T T H V L S G K P L R T L N V L L G p.700
. . . | 12 . . . g.98284
ATTGCGCGTGGCTGCTGGGTTCTCTCTTATGATTGG | GTGCTATGGTCTTTAGAATTGGGT c.2160
I A R G C W V L S Y D W | V L W S L E L G p.720
. . . . . | 13 . g.219868
CACTGGATTTCTGAGGAGCCGTTCGAACTGTCTCACCACTTCCCTGCAGCTCCC | CTGTGC c.2220
H W I S E E P F E L S H H F P A A P | L C p.740
. . . . . . g.219928
CGAAGCGAGTGCCACTTGTCTGCAGGGCCGTACCGCGGAACCCTCTTTGCCGACCAGCCA c.2280
R S E C H L S A G P Y R G T L F A D Q P p.760
. . . . . . g.219988
GCGATGTTTGTCTCGCCTGCCAGCAGCCCCCCAGTGGCCAAGCTCTGTGAACTAGTCCAC c.2340
A M F V S P A S S P P V A K L C E L V H p.780
. . . . . . g.220048
CTGTGCGGAGGCCGGGTCAGCCAAGTCCCCCGCCAGGCCAGCATCGTCATCGGGCCCTAC c.2400
L C G G R V S Q V P R Q A S I V I G P Y p.800
. . . . . | 14 . g.241410
AGCGGAAAGAAGAAAGCCACAGTCAAGTATCTGTCTGAGAAATGGGTCTTAG | ATTCCATC c.2460
S G K K K A T V K Y L S E K W V L D | S I p.820
. . . . g.241458
ACCCAGCACAAGGTCTGTGCCCCTGAAAACTACCTATTGTCACAATGA c.2508
T Q H K V C A P E N Y L L S Q X p.835
. . . . . . g.241518
cagtgacctcactggcctgtggtgactgcacacagctcgcaaaactgtctttggatgttc c.*60
. . . . . . g.241578
aaatgagaaacaaaactgtgaagagaaggaactggcgtatacaagatgacttctgatatc c.*120
. . . . . . g.241638
atgtttgccatgtgttgtggttcttaagaactcataggtgactttctgatgactgaatgt c.*180
. . . . . . g.241698
ctgtttcagagacgcttcgggcctttttatttttattttattttttattttttgagacgg c.*240
. . . . . . g.241758
agtcctgccctgtttcccaggctggagtgcaatggcacaatctcggctcactgcaacctc c.*300
. . . . . . g.241818
cacctcccaggttcaagcgattctgctgcctcagcctcctgagtagctgggattacagat c.*360
. . . . . . g.241878
gtgtgccaccatgcctggctaatttttgtagttttagtagagacagggtttcgccatgtt c.*420
. . . . . . g.241938
ggccaggctggtctcaaacgcctgagctcaggtgatctgtcaggcctcttctatagaatt c.*480
. . . . . . g.241998
ccagtctttgtgtcttagtcatgatcataattgaaaggtcacagaacctttgtcattaga c.*540
. . . g.242028
gcacagtactgccaaataaagaatggaaat c.*570
(downstream sequence)
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