(used for variant description)
(last modified October 12, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001277961.1 in the STIM1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016277.1, covering STIM1 transcript NM_001277961.1.
(upstream sequence)
. . g.5028
ctggacctgggcaccgccagccgcctgg c.-541
. . . . . . g.5088
gcacgggactgggcgggggcgctgacctcggcctaggaggcccaggatcccggagacgcc c.-481
. . . . . . g.5148
cgcgccctcaggaccctgcgggtcgcacgccctccccagcttctgctgctcgccgctctt c.-421
. . . . . . g.5208
cggcagggcgaggtcaggtgcccccttctcgcctctcttctcttctcttctcttcctcct c.-361
. . . . . . g.5268
ccacttctgtgcccgcggagactccggccgcccccttccgcaggggtgtagtaatctgcg c.-301
. . . . . . g.5328
gagctgacagcagccccgcagccaccctgcccgaagtctccggaagcggcacgagctcag c.-241
. . . . . . g.5388
gccgccgcagccccggcggacccactgttggacctgaggagccagccctcctcccgcacc c.-181
. . . . . . g.5448
caaacttggagcacttgacctttggctgttggagggggcaggctcgcgggtggctggaca c.-121
. . . . . . g.5508
gctgcggagccgcgagggcatcttgcctggagaccgtcggctgcactcccgggctcctgg c.-61
. . . . . . g.5568
ctttgcctctgggatcccgaggtgtccacatcagacgcatgttgactgagacctagagtc c.-1
. . . . . . g.5628
ATGGATGTATGCGTCCGTCTTGCCCTGTGGCTCCTCTGGGGACTCCTCCTGCACCAGGGC c.60
M D V C V R L A L W L L W G L L L H Q G p.20
. . . . . . g.5688
CAGAGCCTCAGCCATAGTCACAGTGAGAAGGCGACAGGAACCAGCTCGGGGGCCAACTCT c.120
Q S L S H S H S E K A T G T S S G A N S p.40
. | 02 . . . . g.116890
GAGGAGTCCACTGCAGCAG | AGTTTTGCCGAATTGACAAGCCCCTGTGTCACAGTGAGGAT c.180
E E S T A A E | F C R I D K P L C H S E D p.60
. . . . . . g.116950
GAGAAACTCAGCTTCGAGGCAGTCCGTAACATCCACAAACTGATGGACGATGATGCCAAT c.240
E K L S F E A V R N I H K L M D D D A N p.80
. . . | 03 . . . g.173200
GGTGATGTGGATGTGGAAGAAAGTGATGAG | TTCCTGAGGGAAGACCTCAATTACCATGAC c.300
G D V D V E E S D E | F L R E D L N Y H D p.100
. . . . . . g.173260
CCAACAGTGAAACACAGCACCTTCCATGGTGAGGATAAGCTCATCAGCGTGGAGGACCTG c.360
P T V K H S T F H G E D K L I S V E D L p.120
. . | 04 . . . . g.204858
TGGAAGGCATGGAAGTCATCAGAAG | TATACAATTGGACCGTGGATGAGGTGGTACAGTGG c.420
W K A W K S S E V | Y N W T V D E V V Q W p.140
. . . . . . g.204918
CTGATCACATATGTGGAGCTGCCTCAGTATGAGGAGACCTTCCGGAAGCTGCAGCTCAGT c.480
L I T Y V E L P Q Y E E T F R K L Q L S p.160
. | 05. . . . . g.208621
GGCCATGCCATGCCAAG | GCTGGCTGTCACCAACACCACCATGACAGGGACTGTGCTGAAG c.540
G H A M P R | L A V T N T T M T G T V L K p.180
. . . . . . g.208681
ATGACAGACCGGAGTCATCGGCAGAAGCTGCAGCTGAAGGCTCTGGATACAGTGCTCTTT c.600
M T D R S H R Q K L Q L K A L D T V L F p.200
. | 06 . . . . . g.219370
GGGCCTCCTCTCT | TGACTCGCCATAATCACCTCAAGGACTTCATGCTGGTGGTGTCTATC c.660
G P P L L | T R H N H L K D F M L V V S I p.220
. . . . . . g.219430
GTTATTGGTGTGGGCGGCTGCTGGTTTGCCTATATCCAGAACCGTTACTCCAAGGAGCAC c.720
V I G V G G C W F A Y I Q N R Y S K E H p.240
. . . . . . g.219490
ATGAAGAAGATGATGAAGGACTTGGAGGGGTTACACCGAGCTGAGCAGAGTCTGCATGAC c.780
M K K M M K D L E G L H R A E Q S L H D p.260
. | 07 . . . . . g.223848
CTTCAGGAAAG | GCTGCACAAGGCCCAGGAGGAGCACCGCACAGTGGAGGTGGAGAAGGTC c.840
L Q E R | L H K A Q E E H R T V E V E K V p.280
. . . . . . g.223908
CATCTGGAAAAGAAGCTGCGCGATGAGATCAACCTTGCTAAGCAGGAAGCCCAGCGGCTG c.900
H L E K K L R D E I N L A K Q E A Q R L p.300
. . . . . . g.223968
AAGGAGCTGCGGGAGGGTACTGAGAATGAGCGGAGCCGCCAAAAATATGCTGAGGAGGAG c.960
K E L R E G T E N E R S R Q K Y A E E E p.320
| 08 . . . . . g.231532
TTGGAGCAG | GTTCGGGAGGCCTTGAGGAAAGCAGAGAAGGAGCTAGAATCTCACAGCTCA c.1020
L E Q | V R E A L R K A E K E L E S H S S p.340
. . . . . . g.231592
TGGTATGCTCCAGAGGCCCTTCAGAAGTGGCTGCAGCTGACACATGAGGTGGAGGTGCAA c.1080
W Y A P E A L Q K W L Q L T H E V E V Q p.360
. . . . . | 09. g.232182
TATTACAACATCAAGAAGCAAAATGCTGAGAAGCAGCTGCTGGTGGCCAAGGAGGGG | GCT c.1140
Y Y N I K K Q N A E K Q L L V A K E G | A p.380
. . . . . . g.232242
GAGAAGATAAAAAAGAAGAGAAACACACTCTTTGGCACCTTCCACGTGGCCCACAGCTCT c.1200
E K I K K K R N T L F G T F H V A H S S p.400
. . . | 10 . . g.232582
TCCCTGGATGATGTAGATCATAAAATTCTAACAGCTAA | GCAAGCACTGAGCGAGGTGACA c.1260
S L D D V D H K I L T A K | Q A L S E V T p.420
. . . . . . g.232642
GCAGCATTGCGGGAGCGCCTGCACCGCTGGCAACAGATCGAGATCCTCTGTGGCTTCCAG c.1320
A A L R E R L H R W Q Q I E I L C G F Q p.440
. . . . . . g.232702
ATTGTCAACAACCCTGGCATCCACTCACTGGTGGCTGCCCTCAACATAGACCCCAGCTGG c.1380
I V N N P G I H S L V A A L N I D P S W p.460
. . . . . . g.232762
ATGGGCAGTACACGCCCCAACCCTGCTCACTTCATCATGACTGACGACGTGGATGACATG c.1440
M G S T R P N P A H F I M T D D V D D M p.480
. . . | 11 . . . g.235800
GATGAGGAGATTGTGTCTCCCTTGTCCATGCAGT | CCCCTAGCCTGCAGAGCAGTGTTCGG c.1500
D E E I V S P L S M Q S | P S L Q S S V R p.500
. . . . . . g.235860
CAGCGCCTGACGGAGCCACAGCATGGCCTGGGATCTCAGAGGTTGGTAGAGGGCGAGGCT c.1560
Q R L T E P Q H G L G S Q R L V E G E A p.520
. . . . . . g.235920
GGCCACTTCTTGACAAGCCGGGTATCTCTGCGGCGAATGCGCAGCCTTTCATCTGGACAG c.1620
G H F L T S R V S L R R M R S L S S G Q p.540
. . . . . . g.235980
TCTTTCAGTTCTGAAGGCTACGGGACCAGCTCTCCATCTGCCTCTGCTGCTGCTTCTTGC c.1680
S F S S E G Y G T S S P S A S A A A S C p.560
. . . . . . g.236040
TCCTCTTCCATCACCACCATCACCACTACCACCACCACCACCACCACCTTCACCACCGTC c.1740
S S S I T T I T T T T T T T T T F T T V p.580
. . . . . . g.236100
CATGTCCACCCTGTTTATTACCACCACAGCACTTCCTATTTCCTCCAGATGGAGCCCTAC c.1800
H V H P V Y Y H H S T S Y F L Q M E P Y p.600
. . . . . | 12 g.240580
CCTGACACACCCCCTTCTGACAGCACCGCTGTGATGCCTGGGCATTCAGAGAGCTTGGG | G c.1860
P D T P P S D S T A V M P G H S E S L G | p.620
. . . . . . g.240640
GATTTGACCCATTCCGATTCGGAGTCCTCCCTCCACATGAGTGACCGCCAGCGTGTGGCC c.1920
D L T H S D S E S S L H M S D R Q R V A p.640
. . . . . . g.240700
CCCAAACCTCCTCAGATGAGCCGTGCTGCAGACGAGGCTCTCAATGCCATGACTTCCAAT c.1980
P K P P Q M S R A A D E A L N A M T S N p.660
. . . . . . g.240760
GGCAGCCACCGGCTGATCGAGGGGGTCCACCCAGGGTCTCTGGTGGAGAAACTGCCTGAC c.2040
G S H R L I E G V H P G S L V E K L P D p.680
. . . . . . g.240820
AGCCCTGCCCTGGCCAAGAAGGCATTACTGGCGCTGAACCATGGGCTGGACAAGGCCCAC c.2100
S P A L A K K A L L A L N H G L D K A H p.700
. . . . . . g.240880
AGCCTGATGGAGCTGAGCCCCTCAGCCCCACCTGGTGGCTCTCCACATTTGGATTCTTCC c.2160
S L M E L S P S A P P G G S P H L D S S p.720
. . . . . . g.240940
CGTTCTCACAGCCCCAGCTCCCCAGACCCAGACACACCATCTCCAGTTGGGGACAGCCGA c.2220
R S H S P S S P D P D T P S P V G D S R p.740
. . . . . . g.241000
GCCCTGCAAGCCAGCCGAAACACACGCATTCCCCACCTGGCTGGCAAGAAGGCTGTGGCT c.2280
A L Q A S R N T R I P H L A G K K A V A p.760
. . . . . . g.241060
GAGGAGGATAATGGCTCTATTGGCGAGGAAACAGACTCCAGCCCAGGCCGGAAGAAGTTT c.2340
E E D N G S I G E E T D S S P G R K K F p.780
. . . g.241096
CCCCTCAAAATCTTTAAGAAGCCTCTTAAGAAGTAG c.2376
P L K I F K K P L K K X p.791
. . . . . . g.241156
gcaggatggggtggcagtaaagggacagcttgtccttccctgggtgttctgtctctcctt c.*60
. . . . . . g.241216
ccctcccttccttcaagataactggccccaagagtggggcatgggaagggctggtccagg c.*120
. . . . . . g.241276
ggtctgggcactgtacatacctgccccctcatccttgggtccttcattattatttattaa c.*180
. . . . . . g.241336
ctgaccaccatggcctgcctgccctgcctccgtcccaaccatgggctgctgctgtcactc c.*240
. . . . . . g.241396
cctctccacttcagtgcatgtcttagttgctgttccctcagctcccagctccacctctgg c.*300
. . . . . . g.241456
ggttcagcttctgtctctgctgtcccagttttgaggtttggtttcttgtttctgtctctt c.*360
. . . . . . g.241516
gctttcgggctcctccctcccaccactccccaacttcccctagcagttgcagggaagata c.*420
. . . . . . g.241576
ggacgagtagcttctgacatgtgtgcctcagatctgttccaccccactcacagtggttct c.*480
. . . . . . g.241636
gtttgctccagactggggctagggcctaatctttgaagtttgttctttggtattgatgtg c.*540
. . . . . . g.241696
ggtcagaaggagcctcatcctaatctcactcaggcctccagggatccatgggggagtgaa c.*600
. . . . . . g.241756
accaattctcagagaacaacccaccagagacttttaaagagaggccaggcttgggaatgg c.*660
. . . . . . g.241816
gttgggagaggcatctgttcattggagcatgagtggatgccagaactgtaggttataagg c.*720
. . . . . . g.241876
cagtcactttttctctctactcccacccacacctgcctccctcttacccctgctccccca c.*780
. . . . . . g.241936
cactgcaggaggatttgtctctaagaggtgctgccccaaagctccccaagcatcaatact c.*840
. . . . . . g.241996
cctagggctcaggacaagtggctcccctggccaggagagccacagccatgatacagggct c.*900
. . . . . . g.242056
cttatggagccctggagttgttgggcaaggatgctgtcattttttgaaccaaaagacaaa c.*960
. . . . . . g.242116
caggttaaaaggaaaaaaagtaatctgaatttcccaagtgcctacgctgcatattcccct c.*1020
. . . . . . g.242176
tgttagatcccattttcatgttactttgtagccttggccagaggctcaaaaaggacacaa c.*1080
. . . . . . g.242236
ccagtttggggaaggggtggctaaggaagatggtataggtgaaggcggctgtgtgaccac c.*1140
. . . . . . g.242296
tttcccccacccttcccaccctctagacaactctctcccttacctgtttttgctatggct c.*1200
. . . . . . g.242356
gtaaaggtatttttcctctgccccactccctgccatacctttatcctgggatcctatttt c.*1260
. . . . . . g.242416
gggcctggggtgggtatacctggggctggtcttaggagggtgctaggctgcagactgcct c.*1320
. . . . . . g.242476
tgtactccctggacaccctcaaatggggttttctgtgttatttcataaaattctttgaag c.*1380
. . . g.242508
tccaataaagcatgtaggagattttaaccact c.*1412
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 22
©2004-2019 Leiden University Medical Center