(used for variant description)
(last modified April 3, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_003086.2 in the SNAPC4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering SNAPC4 transcript NM_003086.2.
(upstream sequence)
g.5009
gcgggagtc c.-1
. . . . . . g.5069
ATGGATGTAGATGCTGAAAGAGAGAAGATAACACAGGAGATCAAGGAGCTGGAAAGGATT c.60
M D V D A E R E K I T Q E I K E L E R I p.20
. . . . . . g.5129
TTGGATCCCGGCTCCTCGGGCTCCCACGTGGAGATCTCAGAATCAAGTCTCGAGTCAGAT c.120
L D P G S S G S H V E I S E S S L E S D p.40
. | 02 . . . . | 03. g.7670
TCTGAAGCAG | ATTCACTGCCTTCTGAGGACTTGGATCCTGCCGATCCCCCGATCTCG | GAA c.180
S E A D | S L P S E D L D P A D P P I S | E p.60
. . . . . . g.7730
GAAGAAAGGTGGGGCGAAGCCAGCAATGACGAGGACGATCCCAAGGATAAAACCCTCCCT c.240
E E R W G E A S N D E D D P K D K T L P p.80
. . . . . . g.7790
GAAGACCCAGAAACCTGCCTGCAGCTGAACATGGTCTACCAGGAGGTCATCCAGGAGAAG c.300
E D P E T C L Q L N M V Y Q E V I Q E K p.100
. . . . | 04 . . g.8029
CTGGCTGAGGCCAACCTGCTGCTGGCCCAGAACCGGGAGCAGCAG | GAGGAACTCATGAGG c.360
L A E A N L L L A Q N R E Q Q | E E L M R p.120
. . . . . . g.8089
GATCTGGCTGGGTCCAAAGGCACCAAGGTGAAAGATGGCAAAAGCCTGCCCCCAAGCACA c.420
D L A G S K G T K V K D G K S L P P S T p.140
. . . . . | 05 . g.8568
TACATGGGGCACTTCATGAAGCCGTATTTCAAGGACAAGGTCACGGGCGTG | GGGCCACCT c.480
Y M G H F M K P Y F K D K V T G V | G P P p.160
. . . . . . g.8628
GCCAACGAGGACACACGAGAGAAGGCTGCCCAGGGGATCAAGGCTTTCGAGGAGCTCCTT c.540
A N E D T R E K A A Q G I K A F E E L L p.180
. | 06 . . . . . g.9157
GTGACCAAAT | GGAAAAACTGGGAAAAGGCCTTGCTCCGAAAGTCAGTGGTGAGTGACCGC c.600
V T K W | K N W E K A L L R K S V V S D R p.200
. . . | 07 . . . g.10688
CTGCAGCGATTGCTTCAGCCCAAGTTACTGAA | GCTCGAGTACTTGCACCAGAAGCAGAGC c.660
L Q R L L Q P K L L K | L E Y L H Q K Q S p.220
. . . . . . g.10748
AAAGTCTCCAGTGAGCTGGAGAGGCAAGCCCTGGAGAAGCAGGGCAGGGAAGCCGAGAAG c.720
K V S S E L E R Q A L E K Q G R E A E K p.240
. | 08. . . . . g.10886
GAGATCCAGGACATCAA | CCAGCTTCCAGAAGAGGCCTTGCTGGGAAACAGGCTGGACAGC c.780
E I Q D I N | Q L P E E A L L G N R L D S p.260
. . . | 09 . . . g.11361
CACGACTGGGAGAAGATTTCCAATATTAAC | TTTGAAGGCAGCCGCAGTGCAGAGGAGATC c.840
H D W E K I S N I N | F E G S R S A E E I p.280
. . . . . . g.11421
CGGAAGTTCTGGCAGAACTCGGAGCACCCCAGCATCAACAAGCAGGAGTGGAGCAGGGAG c.900
R K F W Q N S E H P S I N K Q E W S R E p.300
. . . . . . g.11481
GAGGAGGAGCGGCTGCAGGCGATCGCGGCTGCACACGGCCACCTGGAGTGGCAGAAGATT c.960
E E E R L Q A I A A A H G H L E W Q K I p.320
. | 10 . . . . . g.14891
GCAGAGGAGCTGGGG | ACCAGCCGCAGCGCCTTCCAGTGCCTGCAGAAATTCCAGCAGCAC c.1020
A E E L G | T S R S A F Q C L Q K F Q Q H p.340
. . . . . . g.14951
AACAAAGCTCTGAAACGCAAGGAGTGGACAGAGGAGGAGGACCGCATGCTCACGCAGCTG c.1080
N K A L K R K E W T E E E D R M L T Q L p.360
. . . . | 11 . . g.15606
GTGCAGGAGATGCGCGTCGGCAGCCACATCCCCTACCGCAGAA | TTGTCTACTATATGGAA c.1140
V Q E M R V G S H I P Y R R I | V Y Y M E p.380
. . . . . . g.15666
GGGAGAGACTCCATGCAGCTGATCTACCGATGGACCAAGAGCTTGGATCCTGGTCTGAAG c.1200
G R D S M Q L I Y R W T K S L D P G L K p.400
. . . | 12 . . . g.15888
AAGGGTTACTGGGCCCCGGAGGAAGATGCT | AAGTTGCTTCAAGCTGTTGCCAAATACGGG c.1260
K G Y W A P E E D A | K L L Q A V A K Y G p.420
. . . . . . g.15948
GAGCAGGATTGGTTTAAAATCCGGGAAGAGGTGCCAGGTAGGAGCGATGCCCAGTGCCGA c.1320
E Q D W F K I R E E V P G R S D A Q C R p.440
| 13 . . . . . . g.18678
GATCG | GTATCTCAGGAGATTACATTTCAGCTTGAAAAAGGGTCGGTGGAATTTAAAAGAA c.1380
D R | Y L R R L H F S L K K G R W N L K E p.460
. . . . | 14 . . g.19425
GAGGAACAGTTAATTGAATTAATAGAAAAATATGGTGTCG | GTCACTGGGCAAAAATAGCT c.1440
E E Q L I E L I E K Y G V G | H W A K I A p.480
. . . . . . g.19485
TCTGAGCTGCCCCATCGGTCTGGCTCCCAGTGTCTGAGCAAGTGGAAGATCATGATGGGG c.1500
S E L P H R S G S Q C L S K W K I M M G p.500
| 15 . . . . . . g.19829
| AAGAAGCAGGGTCTCCGGAGGCGGCGGCGGAGGGCCCGTCACAGCGTCCGGTGGAGCTCT c.1560
| K K Q G L R R R R R R A R H S V R W S S p.520
. . . . . . g.19889
ACCAGCAGCAGCGGCAGCAGCAGTGGCAGCAGTGGAGGGAGCAGCAGCAGCAGCAGCAGC c.1620
T S S S G S S S G S S G G S S S S S S S p.540
. . . . . . g.19949
AGCAGCGAGGAGGACGAGCCAGAGCAGGCGCAGGCCGGGGAGGGTGACAGAGCGCTGCTG c.1680
S S E E D E P E Q A Q A G E G D R A L L p.560
. . . . . . g.20009
TCCCCACAGTACATGGTCCCGGACATGGACCTGTGGGTTCCTGCCAGGCAGAGCACCAGC c.1740
S P Q Y M V P D M D L W V P A R Q S T S p.580
. . . . . . g.20069
CAGCCATGGAGAGGAGGGGCAGGGGCCTGGCTGGGAGGCCCCGCTGCCTCCCTCAGCCCT c.1800
Q P W R G G A G A W L G G P A A S L S P p.600
. . . . . . g.20129
CCCAAGGGGTCCAGTGCCAGCCAGGGCGGCAGCAAGGAAGCTTCCACCACAGCCGCGGCT c.1860
P K G S S A S Q G G S K E A S T T A A A p.620
. . . . . . g.20189
CCTGGAGAGGAGACGAGTCCGGTGCAGGTCCCTGCCAGGGCCCACGGCCCTGTCCCGAGG c.1920
P G E E T S P V Q V P A R A H G P V P R p.640
. . . . . . g.20249
TCTGCCCAGGCCTCCCACTCAGCAGACACTCGCCCGGCGGGCGCAGAGAAGCAGGCCCTG c.1980
S A Q A S H S A D T R P A G A E K Q A L p.660
| 16 . . . . . . g.21158
GAG | GGTGGGAGGCGTCTGCTGACAGTGCCTGTGGAGACCGTGCTGAGGGTGCTCAGGGCC c.2040
E | G G R R L L T V P V E T V L R V L R A p.680
. . | 17. . . . g.21397
AACACGGCTGCTCGGAGCTGCACACAG | AAAGAGCAGCTGAGGCAGCCACCCCTGCCCACC c.2100
N T A A R S C T Q | K E Q L R Q P P L P T p.700
. . . . . . g.21457
TCATCCCCAGGGGTCAGCTCTGGTGACAGCGTGGCCCGATCCCATGTGCAGTGGCTACGG c.2160
S S P G V S S G D S V A R S H V Q W L R p.720
. . . . . . g.21517
CACAGAGCCACCCAGAGTGGGCAGCGGCGCTGGAGACACGCTCTGCACCGGAGGCTCCTG c.2220
H R A T Q S G Q R R W R H A L H R R L L p.740
. . . . . . g.21577
AACCGCAGGCTGCTGCTGGCTGTGACCCCTTGGGTAGGGGACGTTGTCGTGCCCTGCACA c.2280
N R R L L L A V T P W V G D V V V P C T p.760
. . . | 18. . . g.22068
CAGGCTTCCCAGAGACCCGCCGTAGTGCAGACTCAAG | CGGATGGCCTCAGGGAGCAGCTG c.2340
Q A S Q R P A V V Q T Q A | D G L R E Q L p.780
. . . . | 19 . g.22599
CAGCAGGCCCGCCTGGCCAGCACCCCTGTGTTTACCCTGTTTACCCAG | CTGTTCCACATC c.2400
Q Q A R L A S T P V F T L F T Q | L F H I p.800
. . . . . . g.22659
GATACTGCCGGCTGCTTGGAGGTCGTCCGAGAGAGGAAGGCCCTGCCACCCAGGCTGCCC c.2460
D T A G C L E V V R E R K A L P P R L P p.820
. . . | 20 . . g.23594
CAGGCTGGTGCTCGGGACCCACCAGTTCATCTTCTGCAG | GCATCCTCAAGTGCCCAGAGC c.2520
Q A G A R D P P V H L L Q | A S S S A Q S p.840
| 21. . . . . . g.24191
ACCCCAG | GCCACCTCTTCCCAAACGTGCCGGCTCAAGAAGCCTCAAAGAGTGCCAGCCAC c.2580
T P G | H L F P N V P A Q E A S K S A S H p.860
. . . . . . g.24251
AAAGGGAGCCGAAGACTGGCGTCCAGCCGGGTGGAGCGCACCCTACCCCAGGCGTCCCTG c.2640
K G S R R L A S S R V E R T L P Q A S L p.880
. . . . . . g.24311
CTGGCTTCAACCGGCCCCCGGCCCAAGCCCAAGACTGTGTCGGAGCTGCTTCAGGAGAAG c.2700
L A S T G P R P K P K T V S E L L Q E K p.900
. . . . . . g.24371
CGGCTTCAGGAGGCCCGTGCCAGGGAGGCCACCCGGGGCCCGGTGGTGCTCCCGTCCCAG c.2760
R L Q E A R A R E A T R G P V V L P S Q p.920
. . . . . . g.24431
CTGCTGGTCTCCTCGTCTGTGATCCTCCAGCCCCCTCTACCACACACCCCACACGGCCGC c.2820
L L V S S S V I L Q P P L P H T P H G R p.940
. . . . . . g.24491
CCAGCCCCGGGTCCCACCGTCTTAAATGTACCGCTCTCTGGGCCTGGGGCCCCCGCGGCA c.2880
P A P G P T V L N V P L S G P G A P A A p.960
. . . . . . g.24551
GCCAAACCTGGCACTTCTGGCTCCTGGCAGGAGGCTGGGACTTCAGCCAAGGACAAGAGA c.2940
A K P G T S G S W Q E A G T S A K D K R p.980
. . . . . . g.24611
CTCTCCACCATGCAAGCCCTGCCCCTCGCTCCTGTCTTCTCAGAGGCCGAGGGCACAGCC c.3000
L S T M Q A L P L A P V F S E A E G T A p.1000
. . . . . . g.24671
CCTGCTGCTTCCCAAGCCCCTGCCCTGGGCCCCGGCCAGATCTCTGTGAGCTGCCCCGAG c.3060
P A A S Q A P A L G P G Q I S V S C P E p.1020
. . . . . . g.24731
AGTGGTCTCGGACAGTCTCAGGCCCCCGCTGCATCCCGGAAGCAGGGCCTGCCTGAGGCG c.3120
S G L G Q S Q A P A A S R K Q G L P E A p.1040
. . . . . . g.24791
CCACCCTTTCTCCCCGCAGCCCCCAGCCCCACCCCACTGCCCGTCCAGCCCCTCAGCCTG c.3180
P P F L P A A P S P T P L P V Q P L S L p.1060
. . . . . . g.24851
ACGCACATAGGAGGGCCACATGTGGCGACCAGTGTCCCCCTGCCTGTCACCTGGGTGCTC c.3240
T H I G G P H V A T S V P L P V T W V L p.1080
. . . . . . g.24911
ACAGCCCAGGGGCTTCTCCCTGTTCCTGTACCAGCTGTGGTGAGCCTTCCCAGGCCAGCA c.3300
T A Q G L L P V P V P A V V S L P R P A p.1100
. . . . . . g.24971
GGGACCCCTGGCCCCGCAGGGCTGCTGGCCACTCTGCTGCCTCCCCTGACTGAGACTCGG c.3360
G T P G P A G L L A T L L P P L T E T R p.1120
. . . . . . g.25031
GCGGCCCAGGGCCCCAGGGCCCCAGCGTTGAGCAGCTCTTGGCAGCCCCCAGCCAATATG c.3420
A A Q G P R A P A L S S S W Q P P A N M p.1140
. . . . . . g.25091
AACAGGGAACCGGAGCCTTCCTGCAGGACAGACACCCCAGCTCCTCCCACACACGCCCTC c.3480
N R E P E P S C R T D T P A P P T H A L p.1160
. . . . . . g.25151
TCCCAAAGTCCTGCAGAAGCGGATGGCAGTGTGGCCTTTGTCCCTGGAGAGGCCCAGGTG c.3540
S Q S P A E A D G S V A F V P G E A Q V p.1180
. . . . . . g.25211
GCCAGGGAGATACCTGAGCCCAGGACGTCCTCCCACGCTGACCCTCCTGAAGCAGAACCC c.3600
A R E I P E P R T S S H A D P P E A E P p.1200
. . . . . . g.25271
CCTTGGTCCGGGAGGCTGCCAGCCTTCGGTGGTGTCATCCCAGCAACTGAGCCAAGGGGG c.3660
P W S G R L P A F G G V I P A T E P R G p.1220
. . . . . . g.25331
ACGCCGGGGTCCCCCTCAGGGACACAGGAGCCCAGGGGGCCTCTGGGCCTGGAGAAGCTG c.3720
T P G S P S G T Q E P R G P L G L E K L p.1240
. . . . . . g.25391
CCCCTGCGCCAGCCTGGGCCTGAGAAGGGGGCCCTGGACCTGGAGAAGCCGCCCCTACCC c.3780
P L R Q P G P E K G A L D L E K P P L P p.1260
. . . . . . g.25451
CAGCCTGGGCCTGAGAAGGGGGCCCTGGACCTGGGCCTGCTGTCCCAGGAGGGCGAGGCG c.3840
Q P G P E K G A L D L G L L S Q E G E A p.1280
. . . . . . g.25511
GCCACACAGCAGTGGCTGGGGGGCCAGCGGGGGGTGCGTGTGCCTCTTCTGGGCAGCAGA c.3900
A T Q Q W L G G Q R G V R V P L L G S R p.1300
. . . . . . g.25571
CTGCCCTATCAGCCCCCAGCCCTGTGCAGCCTGCGAGCTCTGTCCGGTCTCCTACTCCAC c.3960
L P Y Q P P A L C S L R A L S G L L L H p.1320
. . . . . . g.25631
AAGAAGGCCCTGGAGCACAAGGCCACCTCCCTGGTGGTGGGGGGCGAGGCTGAGCGGCCG c.4020
K K A L E H K A T S L V V G G E A E R P p.1340
. . . . . . g.25691
GCCGGAGCACTGCAAGCCTCACTGGGGCTGGTGCGGGGGCAGCTCCAGGACAACCCGGCC c.4080
A G A L Q A S L G L V R G Q L Q D N P A p.1360
. . . . . . g.25751
TACCTCCTGTTGCGGGCGCGGTTCCTGGCAGCCTTCACCCTCCCTGCGCTCCTGGCCACC c.4140
Y L L L R A R F L A A F T L P A L L A T p.1380
. . . . . . g.25811
CTGGCCCCCCAAGGCGTCCGCACCACCCTCTCAGTACCTTCGAGGGTGGGCTCTGAGAGT c.4200
L A P Q G V R T T L S V P S R V G S E S p.1400
. . . . . . g.25871
GAGGATGAAGACCTCCTGAGTGAGCTGGAACTTGCAGACAGGGACGGGCAGCCGGGCTGC c.4260
E D E D L L S E L E L A D R D G Q P G C p.1420
. . | 22 . . . . g.26992
ACGACAGCCACATGCCCCATTCAG | GGAGCCCCAGACTCTGGTAAATGCTCTGCTTCCTCC c.4320
T T A T C P I Q | G A P D S G K C S A S S p.1440
. . . . . . g.27052
TGCCTGGATACTTCTAATGACCCTGACGACCTGGACGTGCTCAGAACCCGGCATGCCAGG c.4380
C L D T S N D P D D L D V L R T R H A R p.1460
. . . g.27082
CACACCCGGAAGCGGAGGCGGCTGGTGTGA | c.4411
H T R K R R R L V X p.1469
| 23. . . . . . g.27690
gcagcag | gacaagcactttctcagaagcccgtggccctgctgacgagagacagcccaccc c.*60
. . . . . . g.27750
ccagcctgcaagagaggcagccagaggccaggtatctgctggccgctgactgaccaggtc c.*120
. . . . . . g.27810
cgcagtgaacagaggcgggcctgccgactgactgtgtggcatggagcatggctgttcccc c.*180
. . . . . g.27861
aagtgcacacctgaacacttggaggaataaagttctgtttttaattgtgga c.*231
(downstream sequence)
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