(used for variant description)
(last modified December 20, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_020533.2 in the MCOLN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000019.9, covering MCOLN1 transcript NM_020533.2.
(upstream sequence)
. . g.5021
cacgtgaccgaggcacagatc c.-121
. . . . . . g.5081
agctgatgccggagggtttgaagccgcgccgcgagggagcgaggtcgcagtgacagcggc c.-61
. . . . . . g.5141
gggcgatcggacccaggctgccccgccgtacccgcctgcgtcccgcgctcccgccccagc c.-1
. . . | 02 . . . g.7380
ATGACAGCCCCGGCGGGTCCGCGCGGCTCAG | AGACCGAGCGGCTTCTGACCCCCAACCCC c.60
M T A P A G P R G S E | T E R L L T P N P p.20
. . . . . . g.7440
GGGTATGGGACCCAGGCGGGGCCTTCACCGGCCCCTCCGACACCCCCAGAAGAGGAAGAC c.120
G Y G T Q A G P S P A P P T P P E E E D p.40
. . . . . . g.7500
CTTCGCCGTCGTCTCAAATACTTTTTCATGAGTCCCTGCGACAAGTTTCGAGCCAAGGGC c.180
L R R R L K Y F F M S P C D K F R A K G p.60
. . . . . | 03. g.8832
CGCAAGCCCTGCAAGCTGATGCTGCAAGTGGTCAAGATCCTGGTGGTCACGGTGCAG | CTC c.240
R K P C K L M L Q V V K I L V V T V Q | L p.80
. . . . . . g.8892
ATCCTGTTTGGGCTCAGTAATCAGCTGGCTGTGACATTCCGGGAAGAGAACACCATCGCC c.300
I L F G L S N Q L A V T F R E E N T I A p.100
. . . . . . g.8952
TTCCGACACCTCTTCCTGCTGGGCTACTCGGACGGAGCGGATGACACCTTCGCAGCCTAC c.360
F R H L F L L G Y S D G A D D T F A A Y p.120
. . . . | 04 . . g.9166
ACGCGGGAGCAGCTGTACCAGGCCATCTTCCATGCTGTGGACCAG | TACCTGGCGTTGCCT c.420
T R E Q L Y Q A I F H A V D Q | Y L A L P p.140
. . . . . . g.9226
GACGTGTCACTGGGCCGGTATGCGTATGTCCGTGGTGGGGGTGACCCTTGGACCAATGGC c.480
D V S L G R Y A Y V R G G G D P W T N G p.160
. . . . . . g.9286
TCAGGGCTTGCTCTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAACGAC c.540
S G L A L C Q R Y Y H R G H V D P A N D p.180
. . . | 05 . . . g.9939
ACATTTGACATTGATCCGATGGTGGTTACTG | ACTGCATCCAGGTGGATCCCCCCGAGCGG c.600
T F D I D P M V V T D | C I Q V D P P E R p.200
. . . . . . g.9999
CCCCCTCCGCCCCCCAGCGACGATCTCACCCTCTTGGAAAGCAGCTCCAGTTACAAGAAC c.660
P P P P P S D D L T L L E S S S S Y K N p.220
. . | 06 . . . . g.10294
CTCACGCTCAAATTCCACAA | GCTGGTCAATGTCACCATCCACTTCCGGCTGAAGACCATT c.720
L T L K F H K | L V N V T I H F R L K T I p.240
. . . . . | 07. g.10551
AACCTCCAGAGCCTCATCAATAATGAGATCCCGGACTGCTATACCTTCAGCGTCCTG | ATC c.780
N L Q S L I N N E I P D C Y T F S V L | I p.260
. . . . . . g.10611
ACGTTTGACAACAAAGCACACAGTGGGCGGATCCCCATCAGCCTGGAGACCCAGGCCCAC c.840
T F D N K A H S G R I P I S L E T Q A H p.280
. . . | 08. . . g.11010
ATCCAGGAGTGTAAGCACCCCAGTGTCTTCCAGCACG | GAGACAACAGCTTCCGGCTCCTG c.900
I Q E C K H P S V F Q H G | D N S F R L L p.300
. . . . . . g.11070
TTTGACGTGGTGGTCATCCTCACCTGCTCCCTGTCCTTCCTCCTCTGCGCCCGCTCACTC c.960
F D V V V I L T C S L S F L L C A R S L p.320
. . | 09 . . . . g.11247
CTTCGAGGCTTCCTGCTGCAGAAC | GAGTTTGTGGGGTTCATGTGGCGGCAGCGGGGACGG c.1020
L R G F L L Q N | E F V G F M W R Q R G R p.340
. . . . . . g.11307
GTCATCAGCCTGTGGGAGCGGCTGGAATTTGTCAATGGCTGGTACATCCTGCTCGTCACC c.1080
V I S L W E R L E F V N G W Y I L L V T p.360
. . . . . | 10 . g.11497
AGCGATGTGCTCACCATCTCGGGCACCATCATGAAGATCGGCATCGAGGCCAAG | AACTTG c.1140
S D V L T I S G T I M K I G I E A K | N L p.380
. . . . . . g.11557
GCGAGCTACGACGTCTGCAGCATCCTCCTGGGCACCTCGACGCTGCTGGTGTGGGTGGGC c.1200
A S Y D V C S I L L G T S T L L V W V G p.400
. . . | 11 . . . g.12004
GTGATCCGCTACCTGACCTTCTTCCACAACTACAAT | ATCCTCATCGCCACACTGCGGGTG c.1260
V I R Y L T F F H N Y N | I L I A T L R V p.420
. . . . . . g.12064
GCCCTGCCCAGCGTCATGCGCTTCTGCTGCTGCGTGGCTGTCATCTACCTGGGCTACTGC c.1320
A L P S V M R F C C C V A V I Y L G Y C p.440
. . . | 12 . . g.12697
TTCTGTGGCTGGATCGTGCTGGGGCCCTATCATGTGAAG | TTCCGCTCACTCTCCATGGTG c.1380
F C G W I V L G P Y H V K | F R S L S M V p.460
. . . . . . g.12757
TCTGAGTGCCTGTTCTCGCTCATCAATGGGGACGACATGTTTGTGACGTTCGCCGCCATG c.1440
S E C L F S L I N G D D M F V T F A A M p.480
. . . . . . g.12817
CAGGCGCAGCAGGGCCGCAGCAGCCTGGTGTGGCTCTTCTCCCAGCTCTACCTTTACTCC c.1500
Q A Q Q G R S S L V W L F S Q L Y L Y S p.500
. . . . . . g.12877
TTCATCAGCCTCTTCATCTACATGGTGCTCAGCCTCTTCATCGCGCTCATCACCGGCGCC c.1560
F I S L F I Y M V L S L F I A L I T G A p.520
. | 13 . . . . . g.15958
TACGACACCATCAAG | CATCCCGGCGGCGCAGGCGCAGAGGAGAGCGAGCTGCAGGCCTAC c.1620
Y D T I K | H P G G A G A E E S E L Q A Y p.540
. . . . . . g.16018
ATCGCACAGTGCCAGGACAGCCCCACCTCCGGCAAGTTCCGCCGCGGGAGCGGCTCGGCC c.1680
I A Q C Q D S P T S G K F R R G S G S A p.560
. . | 14 . . . . g.16183
TGCAGCCTTCTCTGCTGCTGCGGAAG | GGACCCCTCGGAGGAGCATTCGCTGCTGGTGAAT c.1740
C S L L C C C G R | D P S E E H S L L V N p.580
g.16186
TGA c.1743
X p.580
. . . . . . g.16246
ttcgacctgactgccgttggaccgtaggccctggactgcagagacccccgcccccgaccc c.*60
. . . . . . g.16306
cgcttatttatttgtagggtttgcttttaaggatcggctccctgtcgcgcccgaggaggg c.*120
. . . . . . g.16366
cctggacctttcgtgtcggacccttgggggcggggagactgggtggggagggtgttgaat c.*180
. . . g.16400
aaaagggaaaataaatgtgtcgttttcattttta c.*214
(downstream sequence)
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