(used for variant description)
(last modified January 23, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_138361.5 in the LRSAM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032008.1, covering LRSAM1 transcript NM_138361.5.
(upstream sequence)
. . . g.5031
agagacgcccttgtcgccatgtttgttgtgg c.-601
. . . . . . g.5091
gcaggcgcctgaggctgacggctggcaagcagggcaccgcggtgcgctgaagctagagat c.-541
. . . . . . g.5151
tccgaaagggggttcgggtagttcgctccggagaagtctgagaagggtggctccggtgat c.-481
. . . . . . g.5211
cccagccctagctgtttcccatattcctttatcgtgagtgtcaccccggtccccgtcacc c.-421
. . . . . . g.5271
caatcccagagccccgcccctcccctgaggggtccgtagtcccattccgagaccccagta c.-361
. . . . . . g.5331
ccgcggcgacccctgctccctcgagcacttgttgtgtgcactttagttatcaaaacagtc c.-301
. . . . . . g.5391
tatgtggaaatccagtcccgctcttcattcggagagtccgcgattcctagagcctcagac c.-241
. . . . . . g.5451
ttcgtcatcccggtctgcgtgactttatgagattctgagtttctgttcccagcacctgcc c.-181
. . . . . . g.5511
tttgaaggagaccagactccggctccgcccggcccgtgccgggtggtctgcggccccgag c.-121
. . . . . . g.5571
tccgtgaccaagccctccgagtgatcggcctgccctcgggtgcacccgcgggtcccaacg c.-61
. . . | 02. . . g.8042
tgggggatccctccatccgcaaagccag | ggtcctaaagatcgctctgggaaaagggaagg c.-1
. . . . . . g.8102
ATGCCGCTCTTCTTCCGGAAGCGGAAACCCAGTGAGGAGGCTCGGAAACGCCTGGAGTAC c.60
M P L F F R K R K P S E E A R K R L E Y p.20
. | 03 . . . . . g.8560
CAGATGTGTTTG | GCAAAAGAAGCTGGGGCAGATGACATTCTCGACATCTCTAAATGTGAG c.120
Q M C L | A K E A G A D D I L D I S K C E p.40
| 04 . . . . | 05 . g.10836
CTCTCAGAG | ATTCCATTTGGAGCTTTTGCAACATGCAAAGTTCTGCAGAAGAAG | GTGCTG c.180
L S E | I P F G A F A T C K V L Q K K | V L p.60
. . . . . . g.10896
ATCGTCCACACGAATCACCTCACTTCCCTGCTTCCCAAATCCTGCAGCCTCCTGAGTCTG c.240
I V H T N H L T S L L P K S C S L L S L p.80
. | 06 . . . . . g.12565
GCAACCATCAAG | GTTCTAGATCTCCACGATAATCAGCTGACAGCCCTTCCTGACGATCTG c.300
A T I K | V L D L H D N Q L T A L P D D L p.100
. . | 07 . . . . g.14726
GGGCAGCTGACTGCCCTCCAG | GTCTTAAACGTGGAAAGGAATCAACTGATGCAGCTCCCA c.360
G Q L T A L Q | V L N V E R N Q L M Q L P p.120
. . . . | 08 . . g.15780
CGTTCCATTGGGAACCTGACCCAGCTCCAGACTCTCAATGTTAAAG | ACAACAAGCTGAAG c.420
R S I G N L T Q L Q T L N V K D | N K L K p.140
. . . . . . g.15840
GAGCTTCCAGACACCGTGGGGGAGCTTCGAAGCCTGCGTACCCTCAACATCAGTGGAAAC c.480
E L P D T V G E L R S L R T L N I S G N p.160
. . . . | 09 . g.21266
GAGATCCAGAGATTGCCGCAGATGCTGGCTCACGTTCGAACCCTGGAG | ATGCTGAGCCTT c.540
E I Q R L P Q M L A H V R T L E | M L S L p.180
. . . . . . g.21326
GACGCCTCGGCCATGGTCTACCCGCCGCGGGAGGTGTGTGGTGCCGGCACTGCGGCCATC c.600
D A S A M V Y P P R E V C G A G T A A I p.200
. | 10 . . . . g.27356
TTGCAGTTCCTCTGCAAAG | AGTCAGGGCTGGAATACTACCCCCCTTCTCAGTACTTGCTG c.660
L Q F L C K E | S G L E Y Y P P S Q Y L L p.220
. . . . . . g.27416
CCAATTCTGGAGCAAGATGGAATCGAGAACTCTCGGGACAGCCCTGATGGGCCCACGGAC c.720
P I L E Q D G I E N S R D S P D G P T D p.240
. . . | 11 . . . g.32478
AGATTCTCAAGGGAGGAGTTAGAGTGGCAG | AACAGGTTCTCAGACTATGAGAAGAGGAAG c.780
R F S R E E L E W Q | N R F S D Y E K R K p.260
| 12 . . . . . . g.32957
| GAACAGAAGATGCTGGAGAAACTCGAGTTTGAACGGCGCCTGGAACTGGGGCAGCGGGAG c.840
| E Q K M L E K L E F E R R L E L G Q R E p.280
. . . . . . g.33017
CACACCCAGCTCCTTCAGCAGAGCAGCAGCCAGAAGGATGAGATCCTTCAGACGGTCAAG c.900
H T Q L L Q Q S S S Q K D E I L Q T V K p.300
| 13 . . . . . . g.33410
GAG | GAGCAGTCCCGGCTGGAGCAGGGCCTGAGTGAGCACCAGCGCCACCTCAACGCAGAG c.960
E | E Q S R L E Q G L S E H Q R H L N A E p.320
. . . . . . g.33470
CGGCAGCGGCTGCAGGAGCAGCTGAAGCAGACGGAACAGAACATTTCCAGCCGGATCCAG c.1020
R Q R L Q E Q L K Q T E Q N I S S R I Q p.340
. . | 14 . . . . g.34734
AAGCTGCTGCAGGACAATCAGAG | ACAAAAGAAAAGCTCCGAGATTTTGAAATCGCTGGAA c.1080
K L L Q D N Q R | Q K K S S E I L K S L E p.360
| 15 . . . . . g.36516
AATGAAAG | AATAAGAATGGAACAGTTGATGTCCATAACCCAGGAGGAGACTGAGAGCCTG c.1140
N E R | I R M E Q L M S I T Q E E T E S L p.380
. | 16 . . . . g.39291
CGGCGACGTGACGTTGCCT | CCGCCATGCAGCAGATGCTGACTGAGAGCTGTAAGAACCGG c.1200
R R R D V A S | A M Q Q M L T E S C K N R p.400
. . . . . | 17 g.41191
CTCATCCAGATGGCCTACGAATCTCAGAGGCAGAACTTGGTCCAGCAGGCCTGTTCCAG | C c.1260
L I Q M A Y E S Q R Q N L V Q Q A C S S | p.420
. . . . . . g.41251
ATGGCCGAAATGGATGAACGATTCCAGCAGATTCTGTCGTGGCAGCAAATGGATCAGAAC c.1320
M A E M D E R F Q Q I L S W Q Q M D Q N p.440
. . | 18. . . . g.42991
AAAGCCATCAGCCAGATCCTGCAGGAG | AGCGCGATGCAGAAGGCTGCGTTCGAGGCACTC c.1380
K A I S Q I L Q E | S A M Q K A A F E A L p.460
. . . . | 19 . . g.44747
CAGGTGAAGAAAGACCTGATGCATCGGCAGATCAGGAGCCAG | ATTAAGTTAATAGAAACT c.1440
Q V K K D L M H R Q I R S Q | I K L I E T p.480
. . . . . . g.44807
GAGTTATTGCAGCTGACACAGCTGGAGTTAAAGAGGAAGTCCCTGGACACAGAGTCACTC c.1500
E L L Q L T Q L E L K R K S L D T E S L p.500
| 20 . . . . . . g.46373
CAG | GAGATGATCTCGGAGCAGCGCTGGGCCCTCAGCTCCCTGCTCCAGCAGCTGCTCAAA c.1560
Q | E M I S E Q R W A L S S L L Q Q L L K p.520
. . . | 21 . . g.48855
GAGAAGCAGCAGCGAGAGGAAGAGCTCCGGGAAATCCTG | ACGGAGTTAGAAGCCAAAAGT c.1620
E K Q Q R E E E L R E I L | T E L E A K S p.540
. . . . . . g.48915
GAAACCAGGCAGGAAAATTACTGGCTGATTCAGTATCAACGGCTTTTGAACCAGAAGCCC c.1680
E T R Q E N Y W L I Q Y Q R L L N Q K P p.560
. | 22 . . . . g.49520
TTGTCCTTGAAGCTGCAA | GAAGAGGGGATGGAGCGCCAGCTGGTGGCCCTCCTGGAGGAG c.1740
L S L K L Q | E E G M E R Q L V A L L E E p.580
. . . . . . g.49580
CTGTCGGCTGAGCACTACCTGCCCATCTTTGCGCACCACCGCCTCTCACTGGACCTGCTG c.1800
L S A E H Y L P I F A H H R L S L D L L p.600
. . . | 23 . . . g.50797
AGCCAAATGAGCCCAGGGGACCTGGCCAAG | GTGGGCGTCTCAGAAGCTGGCCTGCAGCAC c.1860
S Q M S P G D L A K | V G V S E A G L Q H p.620
. . . . . | 24 . g.54532
GAGATCCTCCGGAGAGTCCAGGAACTGCTGGATGCAGCCAGGATCCAGCCAG | AGCTGAAA c.1920
E I L R R V Q E L L D A A R I Q P E | L K p.640
. . . . . . g.54592
CCACCAATGGGTGAGGTCGTCACCCCTACGGCCCCCCAGGAGCCTCCTGAGTCTGTGAGG c.1980
P P M G E V V T P T A P Q E P P E S V R p.660
. . . . . . g.54652
CCATCCGCTCCCCCTGCAGAGCTGGAGGTGCAGGCCTCAGAGTGTGTCGTGTGCCTGGAA c.2040
P S A P P A E L E V Q A S E C V V C L E p.680
| 25 . . . . . . g.56342
CGGGAG | GCCCAGATGATCTTCCTCAACTGTGGCCACGTCTGCTGCTGCCAGCAGTGCTGC c.2100
R E | A Q M I F L N C G H V C C C Q Q C C p.700
. . . . . . g.56402
CAGCCACTGCGCACCTGCCCGCTGTGCCGCCAGGACATCGCCCAGCGCCTCCGCATCTAC c.2160
Q P L R T C P L C R Q D I A Q R L R I Y p.720
. g.56414
CACAGCAGCTGA c.2172
H S S X p.723
. . . . . . g.56474
gtgctgcccgcccacctgggcctggtcctagccctgcctcggccactgtgagccccgggc c.*60
. . . . . . g.56534
tcctgctcagccttgtgccagccagactcgtatgaggctcccccctgccctgggcccctt c.*120
. . . . . . g.56594
ccccactgcccaggagcccccatcctaagctccaagcatgtctgggccaggcagaggtgc c.*180
. . . . . . g.56654
tcctcatccatgacaccaccagtctgaatggtcctgggggctggggctggagaggccgct c.*240
. . . . . . g.56714
gcaccaccacccgagcctgggagccagcgtcccagcctaatcacggatctgctgcctccc c.*300
. . . . . . g.56774
agctgtcttgactgaaggccaccgcccctgcaggagcttgggtcctcatctgggggccat c.*360
. . . . . . g.56834
gcacaggcccgtcccaccctgcatgtgggaagggagcaggagggcctggctgggtgaggg c.*420
. . . . . . g.56894
gaggccttcctgggaaggcgtgtggtgcaggcctgtgctcacagtggcaccagcaaccct c.*480
. . . . . . g.56954
gggtctccctctctgctgctccccagaaccccggggccctcctgctctccacaactgtcc c.*540
. . . . . . g.57014
ctccttaccccatgtagctcgatccgaagcaggagtgtcaataaacctgtcttcagtgcg c.*600
g.57016
ct c.*602
(downstream sequence)
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