(used for variant description)
(last modified November 29, 2017)
This file was created to facilitate the description of sequence variants on transcript NM_014822.2 in the SEC24D gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_042032.1, covering SEC24D transcript NM_014822.2.
(upstream sequence)
. . . g.5032
gcggctggtccaagcccggcgctgggggcgcg c.-241
. . . . . . g.5092
cagccgagaaagggtttgacgtggcagttcccagcccagctgcaactccgagcgtgagtc c.-181
. . . . . . g.5152
caggctaaggggacgccggccggggaagaggcgcggcgggagaagcgaccgcagcgggag c.-121
. . . . . . g.5212
cccggccaccgagggctgccggcactaggcgcagagccgccagcgctcggaagcccgcgg c.-61
. . | 02 . . . g.7475
ggtgcgggagcgggaacag | acttcttttgtagaattatcctatggaatgatattttcata c.-1
. . . . . . g.7535
ATGAGTCAACAAGGTTACGTGGCTACACCTCCGTATTCTCAGCCTCAGCCTGGAATAGGC c.60
M S Q Q G Y V A T P P Y S Q P Q P G I G p.20
. . . . . | 03 g.16424
CTTTCTCCACCTCATTATGGGCACTATGGGGATCCGTCGCACACAGCATCTCCAACAG | GT c.120
L S P P H Y G H Y G D P S H T A S P T G | p.40
. . . . . . g.16484
ATGATGAAGCCAGCAGGGCCTTTGGGGGCCACCGCCACTAGGGGAATGTTGCCTCCGGGT c.180
M M K P A G P L G A T A T R G M L P P G p.60
. . . . . . g.16544
CCCCCACCTCCTGGACCCCATCAGTTTGGTCAGAATGGAGCTCATGCCACTGGTCACCCT c.240
P P P P G P H Q F G Q N G A H A T G H P p.80
| 04 . . . . . g.23811
CCCCAAAG | ATTTCCAGGCCCTCCACCTGTCAACAATGTGGCATCCTCACATGCACCATAC c.300
P Q R | F P G P P P V N N V A S S H A P Y p.100
. . . . . . g.23871
CAACCCTCTGCACAATCTTCTTATCCAGGTCCTATATCCACTTCATCTGTCACCCAGCTG c.360
Q P S A Q S S Y P G P I S T S S V T Q L p.120
. . . | 05. . . g.25468
GGCAGCCAGCTCAGTGCTATGCAAATCAACAGCTATG | GTTCAGGCATGGCTCCTCCAAGC c.420
G S Q L S A M Q I N S Y G | S G M A P P S p.140
. . . . . . g.25528
CAGGGACCCCCTGGCCCTCTGTCAGCCACATCATTGCAGACTCCTCCACGACCTCCACAG c.480
Q G P P G P L S A T S L Q T P P R P P Q p.160
. . . . . . g.25588
CCTTCCATTTTGCAGCCTGGATCTCAAGTTCTTCCACCACCACCCACCACACTCAATGGT c.540
P S I L Q P G S Q V L P P P P T T L N G p.180
. . . . . . g.25648
CCTGGTGCCTCACCTTTGCCTCTACCAATGTACAGACCAGATGGGCTCTCTGGGCCTCCT c.600
P G A S P L P L P M Y R P D G L S G P P p.200
. . . . . . g.25708
CCTCCAAATGCCCAGTACCAGCCCCCACCTCTTCCAGGCCAGACCTTGGGTGCTGGATAT c.660
P P N A Q Y Q P P P L P G Q T L G A G Y p.220
. | 06 . . . . . g.26063
CCTCCGCAGCAGG | CCAACTCTGGTCCCCAGATGGCAGGCGCACAACTGTCTTACCCAGGA c.720
P P Q Q A | N S G P Q M A G A Q L S Y P G p.240
. . . . . . g.26123
GGCTTCCCTGGAGGTCCTGCACAGATGGCTGGTCCGCCACAGCCCCAGAAGAAGCTGGAT c.780
G F P G G P A Q M A G P P Q P Q K K L D p.260
. . | 07 . . . . g.35256
CCTGACTCTATCCCTAGCCCA | ATCCAGGTGATTGAGAATGATAGAGCCAGCAGAGGAGGA c.840
P D S I P S P | I Q V I E N D R A S R G G p.280
. . . . . . g.35316
CAAGTTTATGCCACCAACACCAGAGGCCAGATCCCTCCCCTGGTCACTACAGATTGCATG c.900
Q V Y A T N T R G Q I P P L V T T D C M p.300
. | 08 . . . . . g.43408
ATACAAGACCAAG | GAAATGCCAGTCCTCGATTCATCCGTTGTACAACATACTGTTTTCCA c.960
I Q D Q G | N A S P R F I R C T T Y C F P p.320
. . . . . . g.43468
TGCACGTCAGATATGGCTAAGCAAGCTCAGATTCCATTAGCTGCTGTCATCAAGCCCTTT c.1020
C T S D M A K Q A Q I P L A A V I K P F p.340
. . | 09 . . . . g.72899
GCCACCATTCCTTCAAATGAG | AGTCCCCTTTACTTGGTAAATCACGGCGAGAGTGGACCA c.1080
A T I P S N E | S P L Y L V N H G E S G P p.360
. . . . . . g.72959
GTCAGATGCAACAGGTGCAAGGCCTACATGTGCCCATTTATGCAGTTCATCGAAGGAGGA c.1140
V R C N R C K A Y M C P F M Q F I E G G p.380
. . . . | 10 . . g.76274
AGGAGATATCAGTGTGGATTTTGCAACTGTGTGAATGATG | TTCCACCATTCTATTTCCAA c.1200
R R Y Q C G F C N C V N D V | P P F Y F Q p.400
. . . . . . g.76334
CATCTGGACCACATTGGAAGAAGACTGGACCACTATGAGAAACCAGAGTTATCTCTAGGA c.1260
H L D H I G R R L D H Y E K P E L S L G p.420
. . . | 11 . . . g.83350
TCTTATGAATATGTTGCCACTTTGGATTATTGCAGA | AAGAGTAAGCCTCCCAACCCACCA c.1320
S Y E Y V A T L D Y C R | K S K P P N P P p.440
. . . . . . g.83410
GCCTTTATCTTCATGATTGATGTTTCATATAGTAACATAAAGAATGGACTTGTCAAGCTC c.1380
A F I F M I D V S Y S N I K N G L V K L p.460
. . . . | 12 . . g.88302
ATATGTGAAGAACTGAAGACCATGCTGGAAAAAATTCCAAA | GGAAGAGCAAGAAGAGACG c.1440
I C E E L K T M L E K I P K | E E Q E E T p.480
. . . . . . g.88362
TCTGCAATTCGAGTGGGTTTTATCACATATAACAAAGTTCTCCATTTCTTTAATGTGAAG c.1500
S A I R V G F I T Y N K V L H F F N V K p.500
. . . . . . g.88422
AGTAATCTGGCCCAGCCTCAGATGATGGTGGTGACTGATGTTGGAGAAGTCTTTGTTCCT c.1560
S N L A Q P Q M M V V T D V G E V F V P p.520
. . . . . | 13 . g.89089
TTGTTGGATGGTTTCCTTGTCAACTATCAAGAATCCCAATCTGTGATTCATAA | TTTGTTG c.1620
L L D G F L V N Y Q E S Q S V I H N | L L p.540
. . . . . . g.89149
GACCAGATTCCAGACATGTTTGCAGACTCTAATGAAAATGAGACTGTCTTTGCTCCTGTC c.1680
D Q I P D M F A D S N E N E T V F A P V p.560
. . | 14. . . . g.96144
ATCCAGGCTGGCATGGAAGCACTAAAG | GCAGCAGACTGTCCTGGGAAGCTGTTCATCTTC c.1740
I Q A G M E A L K | A A D C P G K L F I F p.580
. . . . . . g.96204
CATTCTTCCTTGCCAACTGCTGAAGCACCAGGGAAGCTCAAAAACAGAGATGACAAAAAA c.1800
H S S L P T A E A P G K L K N R D D K K p.600
. . | 15 . . . . g.97049
CTGGTTAATACAGACAAAGAGAAG | ATACTTTTCCAGCCCCAAACAAATGTCTATGACTCA c.1860
L V N T D K E K | I L F Q P Q T N V Y D S p.620
. . . . . . g.97109
TTGGCCAAGGACTGCGTGGCTCACGGCTGCTCTGTGACACTCTTCCTCTTTCCTAGTCAG c.1920
L A K D C V A H G C S V T L F L F P S Q p.640
. . . . . . g.97169
TATGTGGACGTGGCCTCGCTGGGGCTGGTTCCTCAGCTCACTGGAGGAACCCTTTACAAA c.1980
Y V D V A S L G L V P Q L T G G T L Y K p.660
. | 16 . . . . . g.100179
TACAACAATTTCCAG | ATGCACTTGGATAGACAACAATTTTTGAACGACCTCAGAAATGAT c.2040
Y N N F Q | M H L D R Q Q F L N D L R N D p.680
. . . . . | 17 . g.100371
ATTGAAAAGAAAATAGGCTTTGATGCTATTATGAGGGTTCGTACCAGCACAG | GTTTCAGA c.2100
I E K K I G F D A I M R V R T S T G | F R p.700
. . . . . . g.100431
GCCACTGATTTCTTTGGTGGAATCTTGATGAACAACACCACCGATGTAGAAATGGCTGCC c.2160
A T D F F G G I L M N N T T D V E M A A p.720
. . . . . . g.100491
ATCGATTGTGACAAGGCAGTGACCGTGGAGTTCAAGCACGATGACAAACTCAGTGAAGAC c.2220
I D C D K A V T V E F K H D D K L S E D p.740
. | 18 . . . . g.101926
AGTGGAGCCTTAATCCAG | TGTGCTGTGCTTTACACGACAATCAGTGGTCAAAGAAGACTT c.2280
S G A L I Q | C A V L Y T T I S G Q R R L p.760
. . . . . . g.101986
CGGATTCACAATCTTGGCTTAAACTGCAGCTCTCAGCTAGCTGATCTTTATAAGAGCTGT c.2340
R I H N L G L N C S S Q L A D L Y K S C p.780
. . . | 19. . . g.102815
GAGACAGATGCTCTTATCAACTTCTTTGCCAAGTCAG | CTTTTAAAGCAGTTCTCCACCAG c.2400
E T D A L I N F F A K S A | F K A V L H Q p.800
. . . . . . g.102875
CCTTTGAAGGTCATCCGGGAAATTCTAGTTAATCAGACTGCCCATATGTTGGCATGTTAC c.2460
P L K V I R E I L V N Q T A H M L A C Y p.820
. . . | 20 . . . g.108283
CGGAAGAATTGTGCAAGTCCTTCTGCAGCAAGCCAG | CTTATTCTACCAGATTCCATGAAA c.2520
R K N C A S P S A A S Q | L I L P D S M K p.840
. . . . . . g.108343
GTATTGCCAGTGTACATGAATTGCTTGTTGAAAAACTGTGTACTACTCAGCAGACCAGAG c.2580
V L P V Y M N C L L K N C V L L S R P E p.860
. . . . . . g.108403
ATCTCAACTGATGAACGAGCATACCAGAGACAGCTGGTCATGACCATGGGTGTGGCTGAC c.2640
I S T D E R A Y Q R Q L V M T M G V A D p.880
. . . | 21 . . . g.109688
TCTCAGCTTTTCTTCTACCCACAACTTCTGCCCATA | CACACGTTAGATGTCAAGAGTACA c.2700
S Q L F F Y P Q L L P I | H T L D V K S T p.900
. . . . . . g.109748
ATGTTACCTGCTGCCGTTCGTTGCTCTGAGTCCCGTCTTTCAGAAGAAGGAATATTCTTA c.2760
M L P A A V R C S E S R L S E E G I F L p.920
. . . . . . g.109808
CTGGCTAATGGTCTACACATGTTCCTGTGGTTGGGAGTAAGCAGCCCACCAGAACTGATC c.2820
L A N G L H M F L W L G V S S P P E L I p.940
. . . . | 22 . g.112533
CAAGGAATATTTAATGTGCCATCTTTTGCACATATCAACACAGATATG | ACATTGCTGCCT c.2880
Q G I F N V P S F A H I N T D M | T L L P p.960
. . . . . . g.112593
GAAGTGGGAAACCCATACTCTCAACAACTCAGAATGATAATGGGTATTATCCAACAAAAG c.2940
E V G N P Y S Q Q L R M I M G I I Q Q K p.980
. | 23 . . . . g.117558
AGGCCATATTCAATGAAG | CTCACAATTGTAAAGCAGCGAGAACAACCAGAAATGGTTTTC c.3000
R P Y S M K | L T I V K Q R E Q P E M V F p.1000
. . . . . . g.117618
CGACAGTTCCTGGTAGAAGACAAAGGACTTTACGGAGGCTCTTCTTATGTGGATTTCCTT c.3060
R Q F L V E D K G L Y G G S S Y V D F L p.1020
. . . g.117657
TGTTGTGTTCACAAGGAGATCTGTCAGCTGCTTAATTAA c.3099
C C V H K E I C Q L L N X p.1032
. . . . . . g.117717
ttgaaacttctctgtcattgatgttgcatttccaaggagataatctccttcttggtgcct c.*60
. . . . . . g.117777
aattttctagatgataataggctagttttgatttcttgctcattttcagaataactttcc c.*120
. . . . . . g.117837
aggaagagatggcatttagaacttcagctttggtgctcaggtataaagccaattaaggta c.*180
. . . . . . g.117897
caattgtaccataaagggaacaatctgtttctgattgcacagtttctaatttttaaaact c.*240
. . . . . . g.117957
gatgtggtttgcatttcataaaaggcaaagtttacagaaccataaacattctcaattttc c.*300
. . . . . . g.118017
tttatgctagacatataaattatttttcaaactgtatagatttggggtaaaaagttgtct c.*360
. . . . . . g.118077
cagttcctctcccaattgcaatgagaaaaaaaagcttaatttttacattatacttaattt c.*420
. . . . . . g.118137
tctaaaaccatgtaactccattgaacacatttttcaacttaaggtctgcatagcagactt c.*480
. . . . . . g.118197
ttaataaccttgggatttatctggtagaacaatatgtgttctacatttttttcataatta c.*540
. . . . . . g.118257
tatattgtgtatgttaaaactattttccagttgttttgtctgtaaaactgtctttatcaa c.*600
. . . . . . g.118317
tatgcttaatggttctttgtacaattttgaaagtttctacctgtatataatggatgttaa c.*660
. . . g.118349
ccagtatcaataaatcacttcgtataatctta c.*692
(downstream sequence)
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