(used for variant description)
(last modified March 29, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001145124.1 in the SPATA31C1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering SPATA31C1 transcript NM_001145124.1.
(upstream sequence)
. . g.5029
agttgctagaaagcaatgcgcctattcac c.-1
. . . . . . g.5089
ATGGAGAATCTTCCCTTTCCTCTAAAATTACTTAGTGCCTCATCACTAAACACCCCCAGC c.60
M E N L P F P L K L L S A S S L N T P S p.20
. . . . . . g.5149
TCCACACCATGGGTGTTGGATATCTTCCTCACCTTGGTGTTTGCCCTGGGGCTCTTCTTC c.120
S T P W V L D I F L T L V F A L G L F F p.40
. . . . . . g.5209
CTATTACTCCCCTACTTCTCTTACCTCCGTTGTGACAACCCACCCTCACCATCGCCTAGG c.180
L L L P Y F S Y L R C D N P P S P S P R p.60
| 02 . . . . . g.6344
AAGAGAAAG | CGTCATCTTGTCTCCCAGCGTCATCTTGTCTCCCAGTGTCCAACAGGGCGG c.240
K R K | R H L V S Q R H L V S Q C P T G R p.80
. . . . | 03 . . g.6971
AGGGGGAGGCCCAGAGGCAGGATGAAAAACCACAGTCTGAGAG | CTTGTAGAGAGTGCCCG c.300
R G R P R G R M K N H S L R A | C R E C P p.100
. . . . | 04 . . g.7306
AGAGGCCTGGAGGAGACTTGGGACCTGCTTTCACAACTGCAGAG | CCTCCTGGGGCCACAC c.360
R G L E E T W D L L S Q L Q S | L L G P H p.120
. . . . . . g.7366
CTTGAAAAAGGTGACTTTGGTCAGCTCTCTGGTCCAGACCCGCCAGGTGAGGTGGGCAAA c.420
L E K G D F G Q L S G P D P P G E V G K p.140
. . . . . . g.7426
AGAACACCTGATGGAGCCTCCCGGTCCTCTCATGAGCCTATGGAAGATGCTGCTCCCATT c.480
R T P D G A S R S S H E P M E D A A P I p.160
. . . . . . g.7486
GTCTCCCCGTTAGCTTCCCCGGATCCTCGAACCAAGCATCCTCAGGATCTGGCCTCCACC c.540
V S P L A S P D P R T K H P Q D L A S T p.180
. . . . . . g.7546
CCACCACCAGGCCCAATGACCACCTCAGTCTCCTCCCTAAGTGCCTCCCAGCCACCAGAA c.600
P P P G P M T T S V S S L S A S Q P P E p.200
. . . . . . g.7606
CCTTCCCTTCTCCTAGAACGCCCCTCACCCGAGCCACCTGCACTTTTCCCTCACCCACCA c.660
P S L L L E R P S P E P P A L F P H P P p.220
. . . . . . g.7666
CACACCCCTGATCCTCTGGCCTGCTCTCCACCTCCTCCGAAAGGCTTCACTCCTCCTCCC c.720
H T P D P L A C S P P P P K G F T P P P p.240
. . . . . . g.7726
CTGCGGGACTCCACTCTGTTAACACCATCTCACTGTGACTCAGTGGCACTTCCACTGGAC c.780
L R D S T L L T P S H C D S V A L P L D p.260
. . . . . . g.7786
ACCGTCCCTCAAAGCTTGTCTCCACGTGAGGATTTGGCGGCTTCTGTCCCAGCCATCTCA c.840
T V P Q S L S P R E D L A A S V P A I S p.280
. . . . . . g.7846
GGCCTTGGCGGCTCAAACAGTCAAGTTTCTGCCCTCTCCTGGTCGCAGGAGACTACCAAA c.900
G L G G S N S Q V S A L S W S Q E T T K p.300
. . . . . . g.7906
ACCTGGTGCATCTTCAACTCGTCAGTCCAGCAAGATCATCTTTCCCGCCAAAGGGACACC c.960
T W C I F N S S V Q Q D H L S R Q R D T p.320
. . . . . . g.7966
ACAATGTCCCCACTGCTTTTCCAGGCCCAGCCCCTGTCCCATCTGGGGCCTGAGTCCCAA c.1020
T M S P L L F Q A Q P L S H L G P E S Q p.340
. . . . . . g.8026
CCCTTTATTTCATCCACACCCCAATTCCGGCCCACACCTATGGCTCAGGCCGAGGCTCAG c.1080
P F I S S T P Q F R P T P M A Q A E A Q p.360
. . . . . . g.8086
GCCCATCTTCAATCCTCTTTCCCAGTCCTATCTCCTGCTTTTCTATCCCCGATGAAGAAC c.1140
A H L Q S S F P V L S P A F L S P M K N p.380
. . . . . . g.8146
ACTGGAGTAGCTTGCCCTGCGTCGCAGAATAAAGTGCAAGCTCTCTCCTTACCTGAAACT c.1200
T G V A C P A S Q N K V Q A L S L P E T p.400
. . . . . . g.8206
CAGCACCCTGAAAGGCCTTTGTTGAGGAAACAACTAGAAGGTGGGTTGGCTTTACCCTCT c.1260
Q H P E R P L L R K Q L E G G L A L P S p.420
. . . . . . g.8266
AGGGTCCAAAAATCTCAGGACGTCTTTAGTGTCTCCACTCCTAACCTTCCCCAGGAAAGA c.1320
R V Q K S Q D V F S V S T P N L P Q E R p.440
. . . . . . g.8326
CTGACATCCATTCTGCCTGAGAACTTTCCAGTCAGTCCTGAACTCTGGAGACAACTGGAG c.1380
L T S I L P E N F P V S P E L W R Q L E p.460
. . . . . . g.8386
CAATACATGGGGCAACGTGGAAGGATCCAAGAGTCTCTGGATCTGATGCAGCTTCAGGAT c.1440
Q Y M G Q R G R I Q E S L D L M Q L Q D p.480
. . . . . . g.8446
GAATTGCCAGGGACAAGTCAGGCCAAGGGCAAACCCAGGCCCTGGCAGTCCTCCACGTCC c.1500
E L P G T S Q A K G K P R P W Q S S T S p.500
. . . . . . g.8506
ACAGGTGAAAGCAGCAAGGAGGCACAGACGGTGAAGTTCCAGCTAGAGAGGGACCCATGC c.1560
T G E S S K E A Q T V K F Q L E R D P C p.520
. . . . . . g.8566
CCACATCTGGGGCAAATTCTGGGTGAGACCCCACAAAATCTATCCAGGGGCATGGAAAGC c.1620
P H L G Q I L G E T P Q N L S R G M E S p.540
. . . . . . g.8626
TTCCCAGGGAAGGTTCTGGGGGCGACCTCTGAGGAGTCAGAAAGGAACCTGAGGAAGCCC c.1680
F P G K V L G A T S E E S E R N L R K P p.560
. . . . . . g.8686
TTGAGGAGTGACTCAGGAAGTGATTTATTAAGACGCACAGAGAGGAATCATATAGAAAAC c.1740
L R S D S G S D L L R R T E R N H I E N p.580
. . . . . . g.8746
ATCCTGAAAGCCCACATGGGCAGAAAGTTGGGCCAGACCAACGAGGGCTTGATCCCCGTG c.1800
I L K A H M G R K L G Q T N E G L I P V p.600
. . . . . . g.8806
AGTGTGCGTCGATCCTGGCTTGCTGTCAACCAGGCTTTTCCCGTATCCAACACCCACGTG c.1860
S V R R S W L A V N Q A F P V S N T H V p.620
. . . . . . g.8866
AAAACCAGCAATCTAGCAGCCCCGAAAAGTAGGAAAGCCTGTGTAAACACAGCCCAGGTG c.1920
K T S N L A A P K S R K A C V N T A Q V p.640
. . . . . . g.8926
CTTTCCTTCCTTGAGCTGTGTACTCAGCAGGTGCTGGAAGCCCATATTGTGAGGTTTTGG c.1980
L S F L E L C T Q Q V L E A H I V R F W p.660
. . . . . . g.8986
GCCAAACACAGGTGGGGTCTACCCCTCAGGGTCCTCAAGCCCATTCAGTGCTTTCAACTG c.2040
A K H R W G L P L R V L K P I Q C F Q L p.680
. . . . . . g.9046
GAAAAGGTTTCATCCTTGTCCCTTATACAGCTTGCTGGTCCCTCCTCAGACACCTGCGAA c.2100
E K V S S L S L I Q L A G P S S D T C E p.700
. . . . . . g.9106
TCTGGGGCTGGCTCAAAAGTTGAGGTGGCCACGCTCCTTGGAGAGCCACCAATGGCAAGT c.2160
S G A G S K V E V A T L L G E P P M A S p.720
. . . . . . g.9166
CTGAGAAAGCAAGTGCTGACCAAACCATCTGTTCACATGCCAGAGAGGCTTCAGGCCTCC c.2220
L R K Q V L T K P S V H M P E R L Q A S p.740
. . . . . . g.9226
TCACCTGCATGTAAGCAGTTCCAGAGGGCCCCGCGAGGGATCCCATCTTCAAATGATCAT c.2280
S P A C K Q F Q R A P R G I P S S N D H p.760
. . . . . . g.9286
GGGTCCTTGAAGGCTCCTACAGCTGGACAGGAGGGCAGGTGGCCATCTAAGCCCCTCACA c.2340
G S L K A P T A G Q E G R W P S K P L T p.780
. . . . . . g.9346
TACAGCCTCAAAGGCAGCACCCAGCAGAGCAGGAGCTTAGGAGCCCAATCTTCAAGGGCT c.2400
Y S L K G S T Q Q S R S L G A Q S S R A p.800
. . . . . . g.9406
GGAGAGACCAGGGAGGCAGTGCCACAACCCACAGTCCCCTTGGGAACCTGTATGAGAGCA c.2460
G E T R E A V P Q P T V P L G T C M R A p.820
. . . . . . g.9466
AACCTCCAAGCCACAAGTGAGGATGTGCGTGGTTTCAAGGCTCCAGGCGCCAGCAAAAGC c.2520
N L Q A T S E D V R G F K A P G A S K S p.840
. . . . . . g.9526
TCTCTACTCCCTAGAATGTCTGTCTCCCAAGACCCAAGAAAGCTGTGTCTCATGGAGGAG c.2580
S L L P R M S V S Q D P R K L C L M E E p.860
. . . . . . g.9586
GCTGTTAGTGAATTTGAGCCTGGAATGGCCACGAAGTCAGAGACCCAGCCTCAAGTTTCT c.2640
A V S E F E P G M A T K S E T Q P Q V S p.880
. . . . . . g.9646
GCCGCTGTTGTGCTCCTTCCAGATGGGCAAGCATCTGTTGTGCCCCATGCTTCAGAGAAT c.2700
A A V V L L P D G Q A S V V P H A S E N p.900
. . . . . . g.9706
TTGGCTTCTCAAGTGCCCCAGGGCCATCTCCAGAGCACGCCTACTGGGAACATGCAGGCT c.2760
L A S Q V P Q G H L Q S T P T G N M Q A p.920
. . . . . . g.9766
TCCCAGGAGCTATGTGACCTCATGTCAGCCAGAAGGAGTAACATGGGGCACAAGGAGCCC c.2820
S Q E L C D L M S A R R S N M G H K E P p.940
. . . . . . g.9826
AGGAACCCAAACTGTCAAGGCTCATGCAAGAGCCAAAGCCCAATGTTTCCCCCTACTCAC c.2880
R N P N C Q G S C K S Q S P M F P P T H p.960
. . . . . . g.9886
AAGAGGGAGAACTCTAGGAAGCCCAACTTAGAAAAACATGAAGAAATGTTTCAAGGATTG c.2940
K R E N S R K P N L E K H E E M F Q G L p.980
. . . . . . g.9946
AGGACTCCTCAACTTACCCCAGGCAGAAAAACAGAAGACACCCGTCAGAATGAAGGCGTC c.3000
R T P Q L T P G R K T E D T R Q N E G V p.1000
. . . . . . g.10006
CAGCTACTGCCATCAAAGAAACAGCCTCCTTCAATAAGCCACTTTGGAGAAAACATCAAG c.3060
Q L L P S K K Q P P S I S H F G E N I K p.1020
. . . . . . g.10066
CAATTTTTTGAGACGATTTTTTCAAAGAAAGAAAGGAAGCCAGCACCAGTCACTGCTGAG c.3120
Q F F E T I F S K K E R K P A P V T A E p.1040
. . . . . . g.10126
AGCCAAAAAACAGTAAAAAACAGATCATGCGTGTACGGCAGCAGTGCTGAAGCTGAGAGG c.3180
S Q K T V K N R S C V Y G S S A E A E R p.1060
. . . . . . g.10186
CTCATGACAGCAGTTGGACAGATACCGGAGGAGAACATGTCACTTTGCCATGCGCGCCAT c.3240
L M T A V G Q I P E E N M S L C H A R H p.1080
. . . . . . g.10246
GCCTCGAAGGTAAATCAGCAAAGACAGCAGTTTCAAGCCCCAGTCTGTGGGTTTCCCTGC c.3300
A S K V N Q Q R Q Q F Q A P V C G F P C p.1100
. . . . . . g.10306
AACCACAGACACCCGTTCTACTCAGACCACAGCAGAATGCTGAGCTATGCAGCCAGCAGT c.3360
N H R H P F Y S D H S R M L S Y A A S S p.1120
. . . . . . g.10366
CAACAAGCCACTCTCAAGAACCAGAGTCGTCCCAACAGAGACAGACAAATCAGAGATCAG c.3420
Q Q A T L K N Q S R P N R D R Q I R D Q p.1140
. . . . . . g.10426
CAGCCCTTGAAAAGTGTCCGGTGCAACAATGAGCAATGGGGCCTGCGACATCCCCAACTC c.3480
Q P L K S V R C N N E Q W G L R H P Q L p.1160
. . . . . . g.10486
TTGCTCCCCAAGAAAGCTGTATCCCCAGTCAGTCCCCCTCAGCACCGGCCGAAGACACCC c.3540
L L P K K A V S P V S P P Q H R P K T P p.1180
. . g.10513
AGTGCCTCCAGCCACCATCACCACTGA c.3567
S A S S H H H H X p.1188
. . . . . . g.10573
ccaaggcactgtctttttcagggaggtatctaatttggtcagtcacaaattcctttttag c.*60
. . . . . . g.10633
ccttccctagagaaaaacaagtcaccaagaaaaaattcactctatgtagaggaaaagtat c.*120
. . . . . . g.10693
tttctctcatgttagtacacgcagaacatttaatattccacaatatatacggttttttat c.*180
g.10696
tca c.*183
(downstream sequence)
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