(used for variant description)
(last modified December 24, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_000543.4 in the SMPD1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011780.1, covering SMPD1 transcript NM_000543.4.
(upstream sequence)
g.5005
agctg c.-181
. . . . . . g.5065
tcagagatcagaggaagaggaaggggcggagctgctttgcggccggccgcggagcagtca c.-121
. . . . . . g.5125
gccgactacagagaagggtaatcgggtgtccccggcgccgcccggggccctgagggctgg c.-61
. . . . . . g.5185
ctagggtccaggccgggggggacgggacagacgaaccagccccgtgtaggaagcgcgaca c.-1
. . . . . . g.5245
ATGCCCCGCTACGGAGCGTCACTCCGCCAGAGCTGCCCCAGGTCCGGCCGGGAGCAGGGA c.60
M P R Y G A S L R Q S C P R S G R E Q G p.20
. . . . . . g.5305
CAAGACGGGACCGCCGGAGCCCCCGGACTCCTTTGGATGGGCCTGGTGCTGGCGCTGGCG c.120
Q D G T A G A P G L L W M G L V L A L A p.40
. . . . . . g.5365
CTGGCGCTGGCGCTGGCGCTGGCTCTGTCTGACTCTCGGGTTCTCTGGGCTCCGGCAGAG c.180
L A L A L A L A L S D S R V L W A P A E p.60
. . . . . . g.5425
GCTCACCCTCTTTCTCCCCAAGGCCATCCTGCCAGGTTACATCGCATAGTGCCCCGGCTC c.240
A H P L S P Q G H P A R L H R I V P R L p.80
. . . . . . g.5485
CGAGATGTCTTTGGGTGGGGGAACCTCACCTGCCCAATCTGCAAAGGTCTATTCACCGCC c.300
R D V F G W G N L T C P I C K G L F T A p.100
. | 02 . . . . g.6012
ATCAACCTCGGGCTGAAG | AAGGAACCCAATGTGGCTCGCGTGGGCTCCGTGGCCATCAAG c.360
I N L G L K | K E P N V A R V G S V A I K p.120
. . . . . . g.6072
CTGTGCAATCTGCTGAAGATAGCACCACCTGCCGTGTGCCAATCCATTGTCCACCTCTTT c.420
L C N L L K I A P P A V C Q S I V H L F p.140
. . . . . . g.6132
GAGGATGACATGGTGGAGGTGTGGAGACGCTCAGTGCTGAGCCCATCTGAGGCCTGTGGC c.480
E D D M V E V W R R S V L S P S E A C G p.160
. . . . . . g.6192
CTGCTCCTGGGCTCCACCTGTGGGCACTGGGACATTTTCTCATCTTGGAACATCTCTTTG c.540
L L L G S T C G H W D I F S S W N I S L p.180
. . . . . . g.6252
CCTACTGTGCCGAAGCCGCCCCCCAAACCCCCTAGCCCCCCAGCCCCAGGTGCCCCTGTC c.600
P T V P K P P P K P P S P P A P G A P V p.200
. . . . . . g.6312
AGCCGCATCCTCTTCCTCACTGACCTGCACTGGGATCATGACTACCTGGAGGGCACGGAC c.660
S R I L F L T D L H W D H D Y L E G T D p.220
. . . . . . g.6372
CCTGACTGTGCAGACCCACTGTGCTGCCGCCGGGGTTCTGGCCTGCCGCCCGCATCCCGG c.720
P D C A D P L C C R R G S G L P P A S R p.240
. . . . . . g.6432
CCAGGTGCCGGATACTGGGGCGAATACAGCAAGTGTGACCTGCCCCTGAGGACCCTGGAG c.780
P G A G Y W G E Y S K C D L P L R T L E p.260
. . . . . . g.6492
AGCCTGTTGAGTGGGCTGGGCCCAGCCGGCCCTTTTGATATGGTGTACTGGACAGGAGAC c.840
S L L S G L G P A G P F D M V Y W T G D p.280
. . . . . . g.6552
ATCCCCGCACATGATGTCTGGCACCAGACTCGTCAGGACCAACTGCGGGCCCTGACCACC c.900
I P A H D V W H Q T R Q D Q L R A L T T p.300
. . . . . . g.6612
GTCACAGCACTTGTGAGGAAGTTCCTGGGGCCAGTGCCAGTGTACCCTGCTGTGGGTAAC c.960
V T A L V R K F L G P V P V Y P A V G N p.320
. . . . . . g.6672
CATGAAAGCACACCTGTCAATAGCTTCCCTCCCCCCTTCATTGAGGGCAACCACTCCTCC c.1020
H E S T P V N S F P P P F I E G N H S S p.340
. . . . . . g.6732
CGCTGGCTCTATGAAGCGATGGCCAAGGCTTGGGAGCCCTGGCTGCCTGCCGAAGCCCTG c.1080
R W L Y E A M A K A W E P W L P A E A L p.360
. | 03 . . . . . g.7851
CGCACCCTCAG | AATTGGGGGGTTCTATGCTCTTTCCCCATACCCCGGTCTCCGCCTCATC c.1140
R T L R | I G G F Y A L S P Y P G L R L I p.380
. . . . . . g.7911
TCTCTCAATATGAATTTTTGTTCCCGTGAGAACTTCTGGCTCTTGATCAACTCCACGGAT c.1200
S L N M N F C S R E N F W L L I N S T D p.400
. . . . . . g.7971
CCCGCAGGACAGCTCCAGTGGCTGGTGGGGGAGCTTCAGGCTGCTGAGGATCGAGGAGAC c.1260
P A G Q L Q W L V G E L Q A A E D R G D p.420
| 04 . . . . . . g.8260
AAA | GTGCATATAATTGGCCACATTCCCCCAGGGCACTGTCTGAAGAGCTGGAGCTGGAAT c.1320
K | V H I I G H I P P G H C L K S W S W N p.440
. . | 05 . . . . g.8522
TATTACCGAATTGTAGCCAG | GTATGAGAACACCCTGGCTGCTCAGTTCTTTGGCCACACT c.1380
Y Y R I V A R | Y E N T L A A Q F F G H T p.460
. . . . . . g.8582
CATGTGGATGAATTTGAGGTCTTCTATGATGAAGAGACTCTGAGCCGGCCGCTGGCTGTA c.1440
H V D E F E V F Y D E E T L S R P L A V p.480
. . . . | 06 . . g.8798
GCCTTCCTGGCACCCAGTGCAACTACCTACATCGGCCTTAATCCTG | GTTACCGTGTGTAC c.1500
A F L A P S A T T Y I G L N P G | Y R V Y p.500
. . . . . . g.8858
CAAATAGATGGAAACTACTCCGGGAGCTCTCACGTGGTCCTGGACCATGAGACCTACATC c.1560
Q I D G N Y S G S S H V V L D H E T Y I p.520
. . . . . . g.8918
CTGAATCTGACCCAGGCAAACATACCGGGAGCCATACCGCACTGGCAGCTTCTCTACAGG c.1620
L N L T Q A N I P G A I P H W Q L L Y R p.540
. . . . . . g.8978
GCTCGAGAAACCTATGGGCTGCCCAACACACTGCCTACCGCCTGGCACAACCTGGTATAT c.1680
A R E T Y G L P N T L P T A W H N L V Y p.560
. . . . . . g.9038
CGCATGCGGGGCGACATGCAACTTTTCCAGACCTTCTGGTTTCTCTACCATAAGGGCCAC c.1740
R M R G D M Q L F Q T F W F L Y H K G H p.580
. . . . . . g.9098
CCACCCTCGGAGCCCTGTGGCACGCCCTGCCGTCTGGCTACTCTTTGTGCCCAGCTCTCT c.1800
P P S E P C G T P C R L A T L C A Q L S p.600
. . . . . . g.9158
GCCCGTGCTGACAGCCCTGCTCTGTGCCGCCACCTGATGCCAGATGGGAGCCTCCCAGAG c.1860
A R A D S P A L C R H L M P D G S L P E p.620
. . . g.9194
GCCCAGAGCCTGTGGCCAAGGCCACTGTTTTGCTAG c.1896
A Q S L W P R P L F C X p.631
. . . . . . g.9254
ggccccagggcccacatttgggaaagttcttgatgtaggaaagggtgaaaaagcccaaat c.*60
. . . . . . g.9314
gctgctgtggttcaaccaggcaagatcatccggtgaaagaaccagtccctgggccccaag c.*120
. . . . . . g.9374
gatgccggggaaacaggaccttctcctttcctggagctggtttagctggatatgggaggg c.*180
. . . . . . g.9434
ggtttggctgcctgtgcccaggagctagactgccttgaggctgctgtcctttcacagcca c.*240
. . . . . . g.9494
tggagtagaggcctaagttgacactgccctgggcagacaagacaggagctgtcgccccag c.*300
. . . . . . g.9554
gcctgtgctgcccagccaggaaccctgtactgctgctgcgacctgatgctgccagtctgt c.*360
. . . g.9585
taaaataaagataagagacttggactccaga c.*391
(downstream sequence)
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