(used for variant description)
(last modified November 13, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_015047.2 in the EMC1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_032948.1, covering EMC1 transcript NM_015047.2.
(upstream sequence)
. . . . . g.5050
gcggcgcggtgcatgccgggacggcggtgggtggtgcatgcgctcgcatc c.-1
. . . . . . g.5110
ATGGCGGCTGAGTGGGCTTCTCGTTTCTGGCTTTGGGCTACGCTGCTGATTCCTGCGGCC c.60
M A A E W A S R F W L W A T L L I P A A p.20
. . . | 02 . . . g.11554
GCGGTCTACGAAGACCAAGTGGGCAAGTTTGATTG | GAGACAGCAATATGTTGGGAAGGTC c.120
A V Y E D Q V G K F D W | R Q Q Y V G K V p.40
. . . . . . g.11614
AAGTTTGCCTCCTTGGAATTTTCCCCTGGATCCAAGAAGTTGGTTGTAGCCACAGAGAAG c.180
K F A S L E F S P G S K K L V V A T E K p.60
. . . . | 03 . . g.12564
AATGTGATTGCAGCATTAAATTCCCGAACTGGGGAGATCT | TGTGGCGCCATGTTGACAAG c.240
N V I A A L N S R T G E I L | W R H V D K p.80
. . . . | 04 . . g.12866
GGCACGGCAGAAGGGGCTGTGGATGCCATGCTGCTGCACGGACAGG | ATGTGATCACTGTG c.300
G T A E G A V D A M L L H G Q D | V I T V p.100
. . . . . . g.12926
TCCAATGGAGGCCGAATCATGCGTTCCTGGGAGACTAACATCGGGGGCCTGAACTGGGAG c.360
S N G G R I M R S W E T N I G G L N W E p.120
. . | 05 . . . . g.14126
ATAACCCTGGACAGTGGCAG | TTTCCAGGCACTTGGGCTGGTTGGCCTGCAGGAGTCTGTA c.420
I T L D S G S | F Q A L G L V G L Q E S V p.140
. . . . . . g.14186
AGGTACATCGCAGTCCTGAAGAAGACTACACTTGCCCTCCATCACCTCTCCAGTGGGCAC c.480
R Y I A V L K K T T L A L H H L S S G H p.160
. . | 06 . . . g.15448
CTCAAGTGGGTGGAACATCTCCCAGAAAG | TGACAGCATCCACTACCAGATGGTGTATTCT c.540
L K W V E H L P E S | D S I H Y Q M V Y S p.180
. . . . . . g.15508
TACGGCTCTGGGGTGGTGTGGGCCCTCGGAGTTGTTCCCTTCAGCCATGTGAACATTGTC c.600
Y G S G V V W A L G V V P F S H V N I V p.200
. . . | 07 . . . g.16137
AAGTTTAATGTGGAAGATGGAGAGATTGTTCAGCAG | GTTAGGGTTTCAACTCCGTGGCTG c.660
K F N V E D G E I V Q Q | V R V S T P W L p.220
. . . . . . g.16197
CAGCACCTGTCTGGAGCCTGTGGTGTGGTGGATGAGGCTGTCCTGGTGTGTCCTGACCCG c.720
Q H L S G A C G V V D E A V L V C P D P p.240
. . . . . . g.16257
AGCTCACGTTCCCTCCAAACTTTGGCTCTGGAGACGGAATGGGAGTTGAGACAGATCCCA c.780
S S R S L Q T L A L E T E W E L R Q I P p.260
| 08 . . . . . . g.16628
CTGCAG | TCTCTCGACTTAGAATTTGGAAGTGGATTCCAACCCCGGGTCCTGCCTACCCAG c.840
L Q | S L D L E F G S G F Q P R V L P T Q p.280
. . . . . . g.16688
CCCAACCCAGTGGACGCTTCCCGGGCCCAGTTCTTCCTGCACTTGTCCCCAAGCCACTAT c.900
P N P V D A S R A Q F F L H L S P S H Y p.300
. . . . . | 09 . g.17263
GCTCTGCTGCAGTACCATTATGGAACGCTGAGTTTGCTTAAAAACTTCCCACAG | ACTGCC c.960
A L L Q Y H Y G T L S L L K N F P Q | T A p.320
. . . . . . g.17323
CTAGTGAGCTTTGCCACCACTGGGGAGAAGACGGTGGCTGCAGTCATGGCCTGTCGGAAT c.1020
L V S F A T T G E K T V A A V M A C R N p.340
| 10 . . . . . . g.17756
GAAGTG | CAGAAAAGTAGCAGTTCTGAAGATGGGTCAATGGGGAGCTTTTCGGAGAAGTCT c.1080
E V | Q K S S S S E D G S M G S F S E K S p.360
| 11 . . . . . g.18471
AGTTCAAAG | GACTCTCTGGCTTGCTTCAATCAGACCTACACCATTAACCTATACCTCGTG c.1140
S S K | D S L A C F N Q T Y T I N L Y L V p.380
. . . . . . g.18531
GAGACAGGTCGGCGGCTGCTGGACACCACGATAACATTTAGCCTGGAACAGAGCGGCACT c.1200
E T G R R L L D T T I T F S L E Q S G T p.400
. | 12 . . . . . g.19369
CGGCCTGAGCGG | CTGTATATCCAGGTGTTCTTGAAGAAGGATGACTCAGTGGGCTACCGG c.1260
R P E R | L Y I Q V F L K K D D S V G Y R p.420
. . . . | 13 . g.21318
GCTTTGGTGCAGACAGAGGATCATCTGCTACTTTTCCTGCAGCAGTTGG | CAGGGAAGGTG c.1320
A L V Q T E D H L L L F L Q Q L A | G K V p.440
. . . . . . g.21378
GTGCTGTGGAGCCGTGAGGAGTCCCTGGCAGAAGTGGTGTGCCTAGAGATGGTGGACCTC c.1380
V L W S R E E S L A E V V C L E M V D L p.460
. . . . . | 14 . g.23432
CCCCTGACTGGGGCACAGGCCGAGCTGGAAGGAGAATTTGGCAAAAAGGCAG | ATGGCTTG c.1440
P L T G A Q A E L E G E F G K K A D | G L p.480
. . . . . . g.23492
CTGGGGATGTTCCTGAAACGCCTCTCGTCTCAGCTTATCCTGCTGCAAGCATGGACTTCC c.1500
L G M F L K R L S S Q L I L L Q A W T S p.500
. . . . . . g.23552
CACCTCTGGAAAATGTTTTATGATGCTCGGAAGCCCCGGAGTCAGATTAAGAATGAGATC c.1560
H L W K M F Y D A R K P R S Q I K N E I p.520
. . . . . . g.23612
AACATTGACACCCTGGCCAGAGATGAATTCAACCTCCAGAAGATGATGGTGATGGTAACA c.1620
N I D T L A R D E F N L Q K M M V M V T p.540
. | 15 . . . . . g.23834
GCCTCAGGCAAG | CTTTTTGGCATTGAGAGCAGCTCTGGCACCATCCTGTGGAAACAGTAT c.1680
A S G K | L F G I E S S S G T I L W K Q Y p.560
. . . . . . g.23894
CTACCCAATGTCAAGCCAGACTCCTCCTTTAAACTGATGGTCCAGAGAACTACTGCTCAT c.1740
L P N V K P D S S F K L M V Q R T T A H p.580
. . . . | 16 . . g.25155
TTCCCCCATCCCCCACAGTGCACCCTGCTGGTGAAGGACAAG | GAGTCGGGAATGAGTTCT c.1800
F P H P P Q C T L L V K D K | E S G M S S p.600
. . . . . . g.25215
CTGTATGTCTTCAATCCCATTTTTGGGAAGTGGAGTCAGGTAGCTCCCCCAGTGCTGAAG c.1860
L Y V F N P I F G K W S Q V A P P V L K p.620
. . . . . . g.25275
CGCCCCATCTTGCAGTCCTTGCTTCTCCCAGTCATGGATCAAGACTACGCCAAGGTGTTG c.1920
R P I L Q S L L L P V M D Q D Y A K V L p.640
. . | 17 . . . . g.25632
CTGTTGATAGATGATGAATACAAG | GTCACAGCTTTTCCAGCCACTCGGAATGTCTTGCGA c.1980
L L I D D E Y K | V T A F P A T R N V L R p.660
. . . . . . g.25692
CAGCTACATGAGCTTGCCCCTTCCATCTTCTTCTATTTGGTGGATGCAGAGCAGGGACGG c.2040
Q L H E L A P S I F F Y L V D A E Q G R p.680
. . | 18 . . . . g.29145
CTGTGTGGATATCGGCTTCGAAAG | GATCTCACCACTGAGCTGAGTTGGGAGCTGACCATT c.2100
L C G Y R L R K | D L T T E L S W E L T I p.700
. . . . . . g.29205
CCCCCAGAAGTACAGCGGATCGTCAAGGTGAAGGGGAAACGCAGCAGTGAGCACGTTCAT c.2160
P P E V Q R I V K V K G K R S S E H V H p.720
. . . . | 19 . . g.33008
TCCCAGGGCCGTGTGATGGGGGACCGCAGTGTGCTCTACAAG | AGCCTGAACCCCAACCTG c.2220
S Q G R V M G D R S V L Y K | S L N P N L p.740
. . . . . . g.33068
CTGGCCGTGGTGACAGAGAGCACAGACGCGCACCATGAGCGCACCTTTATTGGCATCTTC c.2280
L A V V T E S T D A H H E R T F I G I F p.760
. . . . . . g.33128
CTCATTGATGGCGTCACTGGGCGTATCATTCACTCCTCTGTGCAGAAGAAAGCCAAAGGC c.2340
L I D G V T G R I I H S S V Q K K A K G p.780
. . . | 20 . . . g.33749
CCTGTCCATATCGTGCATTCAGAGAACTGGGTGGTG | TACCAGTACTGGAACACCAAGGCT c.2400
P V H I V H S E N W V V | Y Q Y W N T K A p.800
. . . . . . g.33809
CGGCGCAACGAGTTTACCGTACTGGAGCTCTATGAGGGCACTGAGCAATACAACGCCACC c.2460
R R N E F T V L E L Y E G T E Q Y N A T p.820
. . . . . . g.33869
GCCTTCAGCTCCCTGGACCGCCCCCAGCTGCCCCAGGTCCTCCAGCAGTCCTATATCTTC c.2520
A F S S L D R P Q L P Q V L Q Q S Y I F p.840
. . . . . . g.33929
CCGTCCTCCATCAGTGCCATGGAGGCCACCATCACCGAACGGGGCATCACCAGCCGACAC c.2580
P S S I S A M E A T I T E R G I T S R H p.860
| 21. . . . . . g.35764
CTGCTGA | TTGGACTACCTTCTGGAGCAATTCTTTCCCTTCCTAAGGCTTTGCTGGATCCC c.2640
L L I | G L P S G A I L S L P K A L L D P p.880
. . . | 22 . . . g.36889
CGCCGCCCCGAGATCCCAACAGAACAAAGCAG | AGAGGAGAACTTAATCCCGTATTCTCCA c.2700
R R P E I P T E Q S R | E E N L I P Y S P p.900
. . . . . . g.36949
GATGTACAGATACACGCAGAGCGATTCATCAACTATAACCAGACAGTTTCTCGAATGCGA c.2760
D V Q I H A E R F I N Y N Q T V S R M R p.920
. . . . | 23 . . g.37095
GGTATCTACACAGCTCCCTCGGGTCTGGAGTCCACTTGTTTG | GTTGTGGCCTATGGTTTG c.2820
G I Y T A P S G L E S T C L | V V A Y G L p.940
. . . . . . g.37155
GACATTTACCAAACTCGAGTCTACCCATCCAAGCAGTTTGACGTTCTGAAGGATGACTAT c.2880
D I Y Q T R V Y P S K Q F D V L K D D Y p.960
. . . . . . g.37215
GACTACGTGTTAATCAGCAGCGTCCTCTTTGGCCTGGTTTTTGCCACCATGATCACTAAG c.2940
D Y V L I S S V L F G L V F A T M I T K p.980
. . . . g.37257
AGACTGGCACAGGTGAAGCTCCTGAATCGGGCCTGGCGATAA c.2982
R L A Q V K L L N R A W R X p.993
. . . . . . g.37317
agaacaaagactgtgcctaaaagtggagagccaggggagtgtgggtcagataagcagcta c.*60
. . . . . . g.37377
cagctgcagtttggtggattggtggagtatgtgtgtgtgtcagtgctcagctaagaactg c.*120
. . . . . . g.37437
tagggaagatggatgaccttcacgcagaactccttttgggatatacatgatgcagaaagg c.*180
. . . . . . g.37497
atcctacatggagagagacagaactctctcagctgacactctcagagattcctgatgggc c.*240
. . . . . . g.37557
tttctcttgaagtccaaaggcgtctgcattgtttcctttctttgcccatccatgaatgtt c.*300
. . . . . . g.37617
ctgttttgttttttttaataagaattccggctgatttttgtgaggcctgtttaaattgac c.*360
. . . . . . g.37677
tttactttgccttttgtgtttctcaattttatctagaaatctttctgactttttccatct c.*420
. . . . . . g.37737
cttgcttcaaagtaagaggggaactctccttgccgactccaccttataggtacatttggt c.*480
. . . . . . g.37797
gttttgcactgggaagaaataggatccatccttagctgaggcttgaggactgatccagcc c.*540
. . . . . . g.37857
tctcatggcttccctccaaagtaacttagggttgagggatctatatgtgatgtcaaaact c.*600
. . . . . . g.37917
tactttaaacctctagtttcgtgctgtcatttattaggctgggccaccaaatctttgttt c.*660
. . . . . . g.37977
caatttatcagaagccaagtgcatactagcgtcttgtttgttgcccattgcctatacttt c.*720
. . . . . . g.38037
tcacctgagatgtgtgagttggggccttttaaaaactactgaattgtctgagccttgaag c.*780
. . . . . . g.38097
acatttccagggagaagagataatctctcatttcacccacaggctggtctaatcataacc c.*840
. . . . . . g.38157
tagttaaagatgtccttgtttaagaaccccattatttatttttagtttttaatataaatt c.*900
. . . . . . g.38217
aacatgtgggtcattatatttctccttaaatgaggaaattttaaattttattgatctaac c.*960
. . . . . . g.38277
ctttgaagctttaaaaaaggagaaagagggtaggggtgggaaactggcatactgtgtgta c.*1020
. . . . . . g.38337
tagcactgccgattggctaggccactgtgtctctgctacaaattaaagaaatcctaaaag c.*1080
. . . . . . g.38397
ttttccttggtcatagagttggggaatgacagaatttttctttgttgtgaaatgtatgta c.*1140
. . . . . . g.38457
cagagtagaccatctctagccctgtggtgaaagaggtacactcgaatgtttgcataaagc c.*1200
. . . . . . g.38517
aagtgacaaatgacactgtttaagtcctcttttgtgtcttagaagatcattttgaggcta c.*1260
. . . . . . g.38577
ttttcacattagaggggataaaagcagtgaagacatggagtaagtgtattttattttagt c.*1320
. . . . . . g.38637
aaggaaaggtcagtttaatcatatatgggttggttaggttatctaaaaatttgtcatctt c.*1380
. . . . . . g.38697
tctatggtcatatgctgatggtagattatggcagagaaggaagaggaaatgacaaccatt c.*1440
. . . . . . g.38757
ttattaattgtcagtttgatattgagtgactgaatgtctaagaatctccagaaaaaaaca c.*1500
. . . . . . g.38817
ggcatctatcatcctgacccaaggcatattttaacataacctgggagaagagagttaagt c.*1560
. . . . . . g.38877
acaagttaaaaaaaattctgccctagttttgagaaagcctggctggaattctgactgtct c.*1620
. . . . . . g.38937
tacatacatatgtgcaaggttagcctgcaagattctagtttttatttaccagtgtgccag c.*1680
. . . . . . g.38997
aatctgaaacaagctactgggagggaaggtatttgtcctttagtaaaattccctgtattt c.*1740
. . . . . . g.39057
cagctgtaatcaaagttacctcaaagcaggtgctttttttttttttgagacagaatctca c.*1800
. . . . . . g.39117
ctctgttgcccaggctggagtgcagtggcacgatcttggctcacggcaacctccacctca c.*1860
. . . . . . g.39177
caagcagctgggactataggcatgtgccaccacgctcagctaattttttgtatttttagt c.*1920
. . . . . . g.39237
agagacggggtttcattgtgttggccaggctggtctcgaactcctggcctcaagtgatct c.*1980
. . . . . . g.39297
gctggccttggcctcccaaagtgctgggattacaggtgtgagccaccgagcttggccaag c.*2040
. . . . . . g.39357
tgcttaaaatagttaatgctaatgccacagtccaatttaaatcttttcttagttctcaac c.*2100
. . . . . . g.39417
tttccttaatcttaaagcagcattcggttctgagcagctacactcagtctccactaatgg c.*2160
. . . . . . g.39477
ctgctgagactatgtttcctctctcaattctctgatctatttgctttcttgtcattcctt c.*2220
. . . . . . g.39537
gttttttgtgtgtattccttgacttacctcttctcctgtcttcattaattaggttaattt c.*2280
. . . . . . g.39597
tggggccccatggtgtttcacgtaaaaagatttggctgggcgtgatggctcatgcctata c.*2340
. . . . . . g.39657
atcccagcactttgggaggccatagtggaggatctcttgagcccaggagttccagaccag c.*2400
. . . . . . g.39717
cctgggcaacatagcaagactctatctacaaaaaataaaaaaaaattagccgggcctggt c.*2460
. . . . . . g.39777
ggcatgtgcctgtggtcctagctactcaggaggctgaggtaggaggatcacttgagcctg c.*2520
. . . . . . g.39837
ggaggtcgaggctgcagtgagccatgaacatgctactgcattccagcctgggcaacagag c.*2580
. . . . . . g.39897
tgagaccctggctcaaaaacaaaaacaaaaactagtttgttttagtattcattaattacg c.*2640
. . . . . . g.39957
tatatgagcactggtagtctagtgtttgttcttgtatacagtgttttcttaaatgagatg c.*2700
. . . . . . g.40017
atgctatttaattctgttacttgttttttcaactaatggatcttttaaagttttttattt c.*2760
. . . . . . g.40077
aaattttttgtgggtacatattaggtacatatacttatggggtacatgagatgtttttat c.*2820
. . . . . . g.40137
aaaggctcagctaatgtatcttgaatatcatgtattcataaagatgactgaaatagtttc c.*2880
. . . . . . g.40197
tggaacaaagtctgatagaaaaaatactcaattcctaatttaagtgttagagactttaat c.*2940
. . . . . . g.40257
gtaagctatctaatctgaactagtttcattatttgtgtgtgggtacatgttatgtgctcc c.*3000
. . . . . . g.40317
gtaaggcatctttcaatttgaaaatttcataattgtaatttcactgcctttataaattgc c.*3060
. . . . . . g.40377
tttttttttggaggcagggtctctgtcacccaggctggagagcagtggcacagtcatagc c.*3120
. . . . . . g.40437
tcactgcagcctcgaacacctgggctgaagtgatcctccctccttagcctcccaaagtgc c.*3180
. . . . . . g.40497
cgggattacaggcatgagctactgcacctggcccataaattgtcatacttttaaagagcc c.*3240
. . . . . . g.40557
tattacacaaagtatcatcagaatcatcccaagactcatttcctgattcctaattattta c.*3300
. . . . . . g.40617
aaattttgcttttaggcgaggcatggtggctcaagcctataatcccagcactttgggagg c.*3360
. . . . . . g.40677
ccaaggcaggcagatcatttgaggtcaggagtttaagaccagcctggccaacatggtgaa c.*3420
. . . . . . g.40737
acctgaaaccccatctctaccaaaaaaataaaaaaatttagccaggtgtggtggtgcatg c.*3480
. . . . . . g.40797
cctgtaatcccagctacttgggaggctgaggcaggagaatcgaacccaggaggcaaaggc c.*3540
. . . . . . g.40857
tgcagtaagccgagatcatgcctctgcactccagtctgggcaacacagtgagaccctgtc c.*3600
. . . g.40896
tcaaaaataaataaaatgaaaaaattgcttttaaatcat c.*3639
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 25b
©2004-2020 Leiden University Medical Center