(used for variant description)
(last modified February 22, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_194293.2 in the XIRP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_054927.1, covering XIRP1 transcript NM_194293.2.
(upstream sequence)
. . . . g.5049
tggagccagggcagcaagaaggtgtctgttggagccagcag c.-181
. . . . . . g.5109
aacagaaccaatttgaacaagaacctccagaggaacgacgaaccctgagaccacagctgc c.-121
. . . . | 02 . g.8089
tacagaccacaaacaccccatcagccaagagagacccttg | catccagcctctaccctgct c.-61
. . . . . . g.8149
gaacatctagatctaaggctcccaatcccatcctcatctctgccccttcttctcagaagg c.-1
. . . . . . g.8209
ATGGCCGACACCCAGACACAGGTGGCCCCCACACCAACCATGAGGATGGCAACTGCAGAG c.60
M A D T Q T Q V A P T P T M R M A T A E p.20
. . . . . . g.8269
GACCTGCCCCTCCCTCCACCCCCAGCCCTGGAGGACCTGCCACTGCCGCCACCCAAGGAA c.120
D L P L P P P P A L E D L P L P P P K E p.40
. . . . . . g.8329
TCCTTCTCCAAGTTCCATCAGCAGCGGCAAGCTAGTGAGCTCCGCCGCCTCTACAGGCAC c.180
S F S K F H Q Q R Q A S E L R R L Y R H p.60
. . . . . . g.8389
ATCCACCCTGAGCTCCGCAAGAATCTGGCTGAGGCTGTGGCCGAGGATCTGGCTGAGGTC c.240
I H P E L R K N L A E A V A E D L A E V p.80
. . . . . . g.8449
CTGGGCTCTGAGGAACCCACCGAGGGTGACGTTCAGTGCATGCGCTGGATCTTTGAGAAC c.300
L G S E E P T E G D V Q C M R W I F E N p.100
. . . . . . g.8509
TGGAGACTGGATGCCATTGGAGAACACGAGAGGCCAGCTGCCAAGGAGCCCGTGCTGTGT c.360
W R L D A I G E H E R P A A K E P V L C p.120
. . . . . . g.8569
GGTGACGTCCAGGCCACCTCCCGCAAGTTTGAGGAAGGCTCCTTTGCCAACAGCACAGAC c.420
G D V Q A T S R K F E E G S F A N S T D p.140
. . . . . . g.8629
CAGGAGCCAACCAGGCCCCAGCCAGGTGGAGGAGACGTTCGTGCAGCCCGCTGGCTATTT c.480
Q E P T R P Q P G G G D V R A A R W L F p.160
. . . . . . g.8689
GAGACAAAGCCACTGGACGAGCTGACAGGGCAAGCCAAGGAACTGGAGGCCACTGTGAGG c.540
E T K P L D E L T G Q A K E L E A T V R p.180
. . . . . . g.8749
GAGCCTGCAGCCAGCGGAGATGTGCAGGGTACCAGGATGCTCTTTGAGACGCGGCCGCTG c.600
E P A A S G D V Q G T R M L F E T R P L p.200
. . . . . . g.8809
GACCGCCTGGGCTCCCGCCCCTCCCTGCAGGAGCAGAGCCCCTTGGAACTGCGCTCAGAG c.660
D R L G S R P S L Q E Q S P L E L R S E p.220
. . . . . . g.8869
ATCCAGGAGCTGAAGGGTGATGTGAAAAAGACAGTGAAGCTCTTCCAAACGGAGCCCCTG c.720
I Q E L K G D V K K T V K L F Q T E P L p.240
. . . . . . g.8929
TGTGCCATCCAGGATGCAGAGGGCGCCATCCATGAGGTCAAGGCCGCATGCCGGGAGGAG c.780
C A I Q D A E G A I H E V K A A C R E E p.260
. . . . . . g.8989
ATCCAAAGCAACGCGGTGAGGTCTGCCCGCTGGCTCTTTGAGACCCGGCCTCTGGACGCC c.840
I Q S N A V R S A R W L F E T R P L D A p.280
. . . . . . g.9049
ATCAACCAGGACCCCAGCCAGGTGCGGGTGATCCGGGGGATTTCCCTGGAGGAGGGGGCC c.900
I N Q D P S Q V R V I R G I S L E E G A p.300
. . . . . . g.9109
CGGCCCGACGTCAGTGCAACTCGCTGGATCTTTGAGACACAGCCCCTGGATGCCATCCGG c.960
R P D V S A T R W I F E T Q P L D A I R p.320
. . . . . . g.9169
GAGATCTTGGTAGATGAGAAGGACTTCCAGCCATCCCCAGACCTTATCCCACCTGGTCCA c.1020
E I L V D E K D F Q P S P D L I P P G P p.340
. . . . . . g.9229
GATGTTCAGCAGCAGCAGCATCTGTTTGAGACCCGAGCGCTGGACACTCTGAAGGGGGAC c.1080
D V Q Q Q Q H L F E T R A L D T L K G D p.360
. . . . . . g.9289
GAAGAGGCTGGAGCAGAGGCCCCACCCAAGGAGGAAGTGGTCCCTGGTGATGTCCGCTCC c.1140
E E A G A E A P P K E E V V P G D V R S p.380
. . . . . . g.9349
ACCCTGTGGCTATTTGAAACAAAGCCCCTGGATGCTTTCAGAGACAAGGTCCAAGTGGGT c.1200
T L W L F E T K P L D A F R D K V Q V G p.400
. . . . . . g.9409
CACCTACAGCGAGTGGATCCCCAGGACGGTGAGGGGCATCTATCCAGTGACAGCTCCTCA c.1260
H L Q R V D P Q D G E G H L S S D S S S p.420
. . . . . . g.9469
GCACTGCCCTTCTCTCAGAGTGCCCCCCAGAGGGATGAGCTAAAGGGGGATGTGAAGACT c.1320
A L P F S Q S A P Q R D E L K G D V K T p.440
. . . . . . g.9529
TTTAAGAACCTTTTTGAGACCCTTCCCTTGGACAGCATTGGACAGGGTGAGGTTCTGGCC c.1380
F K N L F E T L P L D S I G Q G E V L A p.460
. . . . . . g.9589
CATGGGAGTCCAAGCAGAGAAGAAGGAACTGATTCTGCTGGGCAGGCCCAGGGCATAGGG c.1440
H G S P S R E E G T D S A G Q A Q G I G p.480
. . . . . . g.9649
TCCCCAGTGTATGCCATGCAGGACAGCAAGGGCCGCCTCCATGCCCTGACCTCTGTTAGC c.1500
S P V Y A M Q D S K G R L H A L T S V S p.500
. . . . . . g.9709
AGAGAGCAGATAGTCGGAGGTGATGTGCAGGGCTACAGGTGGATGTTTGAGACACAGCCC c.1560
R E Q I V G G D V Q G Y R W M F E T Q P p.520
. . . . . . g.9769
CTAGACCAGCTCGGCCGAAGCCCCAGTACCATCGACGTGGTGCGGGGCATCACCCGGCAG c.1620
L D Q L G R S P S T I D V V R G I T R Q p.540
. . . . . . g.9829
GAAGTGGTGGCTGGGGACGTTGGCACAGCTCGGTGGCTTTTTGAGACCCAGCCCCTGGAG c.1680
E V V A G D V G T A R W L F E T Q P L E p.560
. . . . . . g.9889
ATGATCCACCAACGGGAGCAGCAGGAACGACAGAAAGAAGAAGGGAAGAGTCAGGGAGAC c.1740
M I H Q R E Q Q E R Q K E E G K S Q G D p.580
. . . . . . g.9949
CCCCAGCCTGAGGCACCCCCAAAGGGCGATGTGCAGACCATCCGGTGGTTGTTCGAGACT c.1800
P Q P E A P P K G D V Q T I R W L F E T p.600
. . . . . . g.10009
TGCCCAATGAGTGAGTTGGCCGAAAAGCAGGGGTCAGAGGTCACAGATCCCACAGCCAAG c.1860
C P M S E L A E K Q G S E V T D P T A K p.620
. . . . . . g.10069
GCTGAGGCACAGTCCTGCACCTGGATGTTCAAGCCCCAACCTGTGGACAGGCCAGTGGGC c.1920
A E A Q S C T W M F K P Q P V D R P V G p.640
. . . . . . g.10129
TCCAGGGAGCAGCACCTGCAGGTTAGCCAGGTCCCGGCTGGGGAAAGACAGACAGACAGA c.1980
S R E Q H L Q V S Q V P A G E R Q T D R p.660
. . . . . . g.10189
CACGTCTTTGAGACCGAGCCTCTTCAGGCCTCAGGCCGTCCCTGTGGAAGACGGCCTGTG c.2040
H V F E T E P L Q A S G R P C G R R P V p.680
. . . . . . g.10249
AGATACTGCAGCCGCGTGGAGATCCCTTCAGGGCAGGTGTCTCGTCAGAAAGAGGTTTTT c.2100
R Y C S R V E I P S G Q V S R Q K E V F p.700
. . . . . . g.10309
CAGGCCCTGGAGGCAGGCAAGAAGGAAGAACAGGAGCCCCGGGTAATCGCTGGGTCCATC c.2160
Q A L E A G K K E E Q E P R V I A G S I p.720
. . . . . . g.10369
CCCGCGGGTTCTGTCCACAAGTTCACTTGGCTTTTTGAGAATTGTCCCATGGGCTCCCTG c.2220
P A G S V H K F T W L F E N C P M G S L p.740
. . . . . . g.10429
GCAGCTGAGAGCATCCAAGGGGGCAACCTCCTGGAAGAGCAGCCCATGAGCCCCTCAGGC c.2280
A A E S I Q G G N L L E E Q P M S P S G p.760
. . . . . . g.10489
AACAGGATGCAAGAGAGCCAGGAGACTGCAGCTGAGGGGACCCTGCGGACTCTGCATGCC c.2340
N R M Q E S Q E T A A E G T L R T L H A p.780
. . . . . . g.10549
ACACCTGGCATCCTGCACCATGGAGGCATCCTCATGGAGGCCCGAGGGCCAGGGGAGCTC c.2400
T P G I L H H G G I L M E A R G P G E L p.800
. . . . . . g.10609
TGTCTTGCCAAGTATGTGCTCTCGGGCACAGGGCAGGGGCACCCTTATATACGAAAGGAG c.2460
C L A K Y V L S G T G Q G H P Y I R K E p.820
. . . . . . g.10669
GAGCTGGTGTCAGGTGAACTTCCCAGGATCATCTGCCAAGTCCTGCGCCGGCCAGATGTG c.2520
E L V S G E L P R I I C Q V L R R P D V p.840
. . . . . . g.10729
GACCAGCAGGGGCTGCTGGTGCAGGAAGACCCAACTGGCCAGCTCCAACTCAAGCCGCTG c.2580
D Q Q G L L V Q E D P T G Q L Q L K P L p.860
. . . . . . g.10789
AGGCTGCCAACTCCAGGCAGCAGTGGGAATATTGAAGACATGGACCCTGAGCTCCAGCAG c.2640
R L P T P G S S G N I E D M D P E L Q Q p.880
. . . . . . g.10849
CTGCTGGCTTGCGGTCTTGGGACCTCCGTGGCAAGGACTGGGCTGGTGATGCAGGAGACA c.2700
L L A C G L G T S V A R T G L V M Q E T p.900
. . . . . . g.10909
GAGCAGGGCCTGGTCGCACTGACTGCCTACTCTCTGCAGCCCCGGCTAACTAGCAAGGCC c.2760
E Q G L V A L T A Y S L Q P R L T S K A p.920
. . . . . . g.10969
TCTGAGAGGAGCAGCGTGCAGCTGTTGGCCAGCTGCATAGATAAAGGAGACCTGAGTGGC c.2820
S E R S S V Q L L A S C I D K G D L S G p.940
. . . . . . g.11029
CTGCACAGTCTGCGGTGGGAGCCCCCGGCTGACCCGAGTCCAGTGCCAGCCAGCGAGGGG c.2880
L H S L R W E P P A D P S P V P A S E G p.960
. . . . . . g.11089
GCCCAGAGCCTGCACCCAACTGAGAGCATCATCCATGTTCCCCCACTGGACCCCAGCATG c.2940
A Q S L H P T E S I I H V P P L D P S M p.980
. . . . . . g.11149
GGGATGGGGCATCTGAGAGCCTCAGGGGCCACCCCTTGCCCTCCTCAGGCCATTGGAAAG c.3000
G M G H L R A S G A T P C P P Q A I G K p.1000
. . . . . . g.11209
GCAGTCCCTCTGGCTGGGGAAGCTGCAGCACCAGCCCAATTGCAAAACACAGAAAAGCAG c.3060
A V P L A G E A A A P A Q L Q N T E K Q p.1020
. . . . . . g.11269
GAAGACAGTCACTCTGGACAGAAAGGGATGGCAGTCTTGGGAAAGTCAGAAGGAGCCACG c.3120
E D S H S G Q K G M A V L G K S E G A T p.1040
. . . . . . g.11329
ACTACCCCTCCGGGGCCTGGGGCCCCAGACCTCCTGGCCGCCATGCAGAGTCTGCGGATG c.3180
T T P P G P G A P D L L A A M Q S L R M p.1060
. . . . . . g.11389
GCAACAGCTGAAGCCCAGAGCCTGCACCAGCAAGTTCTGAACAAGCACAAGCAGGGCCCC c.3240
A T A E A Q S L H Q Q V L N K H K Q G P p.1080
. . . . . . g.11449
ACCCCAACAGCCACTTCCAACCCCATCCAGGACGGTCTTCGGAAAGCTGGGGCTACCCAA c.3300
T P T A T S N P I Q D G L R K A G A T Q p.1100
. . . . . . g.11509
AGCAACATAAGGCCTGGGGGTGGAAGTGATCCCCGGATCCCAGCAGCCCCCAGAAAGGTC c.3360
S N I R P G G G S D P R I P A A P R K V p.1120
. . . . . . g.11569
AGTAGGGAAGAGCAAGCACTACCCAGAGGGCTGCCTGGGGGGTGGGTGACAATTCAGGAT c.3420
S R E E Q A L P R G L P G G W V T I Q D p.1140
. . . . . . g.11629
GGCATCTACACCGCTCATCCCGTGAGGACCTTTGACCCACCTGGGGGTGTCCAGCTTTCT c.3480
G I Y T A H P V R T F D P P G G V Q L S p.1160
. . . . . . g.11689
CAGAGGGAACCCCAGTCAAGGCACAGGGAGACTGCCCTCTCAGTCCAGGCTCCCCGCCCA c.3540
Q R E P Q S R H R E T A L S V Q A P R P p.1180
. . . . . . g.11749
CTCCAGGGAGGCCCAGGTCAGAGTACTGGGCCAGGGCGGGAGGAGCCTGGGGGCTGCACA c.3600
L Q G G P G Q S T G P G R E E P G G C T p.1200
. . . . . . g.11809
CAGATGGCCTGGGGGCCACCAGGGAAGGCGATGGCAGAAGTCTGCCCAGGGGGCCTCCAA c.3660
Q M A W G P P G K A M A E V C P G G L Q p.1220
. . . . . . g.11869
GCTGCAGAGACCACCCTGAAGACTGCCCCTCTAGGCCGCCACATTCTGGCCTCTGGGCCC c.3720
A A E T T L K T A P L G R H I L A S G P p.1240
. . . . . . g.11929
CAAGCTGCAGGTGCCAGCCCGCACCCCCATAATGCCTTTGTTCCTCCTCCTCCTACTCTC c.3780
Q A A G A S P H P H N A F V P P P P T L p.1260
. . . . . . g.11989
CCAGCTGCTGTGACAGGACCTGACTTTCCAGCTGGAGCCCACCGTGCTGAGGACTCCATC c.3840
P A A V T G P D F P A G A H R A E D S I p.1280
. . . . . . g.12049
CAGCAAGCCTCTGAGCCCCTGAAGGACCCCCTTCTTCACTCCCACAGCAGCCCTGCTGGC c.3900
Q Q A S E P L K D P L L H S H S S P A G p.1300
. . . . . . g.12109
CAGAGAACCCCTGGAGGGTCACAGACAAAGACCCCAAAACTGGACCCCACCATGCCCCCA c.3960
Q R T P G G S Q T K T P K L D P T M P P p.1320
. . . . . . g.12169
AAGAAGAAGCCGCAGCTGCCCCCTAAACCTGCACACCTAACCCAGAGCCACCCTCCTCAG c.4020
K K K P Q L P P K P A H L T Q S H P P Q p.1340
. . . . . . g.12229
AGGCTGCCCAAGCCCTTGCCTCTATCTCCCAGCTTTTCCTCGGAGGTGGGGCAAAGAGAA c.4080
R L P K P L P L S P S F S S E V G Q R E p.1360
. . . . . . g.12289
CACCAACGAGGTGAGAGAGATACAGCCATCCCTCAGCCAGCCAAGGTTCCCACTACTGTA c.4140
H Q R G E R D T A I P Q P A K V P T T V p.1380
. . . . . . g.12349
GACCAGGGCCACATACCTCTGGCCAGATGTCCCAGTGGACATAGCCAGCCCAGCTTACAA c.4200
D Q G H I P L A R C P S G H S Q P S L Q p.1400
. . . . . . g.12409
CATGGCCTCAGCACCACGGCCCCCAGGCCCACCAAGAATCAGGCTACAGGCAGCAATGCC c.4260
H G L S T T A P R P T K N Q A T G S N A p.1420
. . . . . . g.12469
CAGAGCTCTGAGCCCCCCAAGCTCAATGCCCTCAACCATGATCCCACCTCACCACAGTGG c.4320
Q S S E P P K L N A L N H D P T S P Q W p.1440
. . . . . . g.12529
GGCCCCGGCCCCTCAGGAGAGCAGCCCATGGAAGGTTCCCACCAAGGGGCCCCTGAGAGC c.4380
G P G P S G E Q P M E G S H Q G A P E S p.1460
. . . . . . g.12589
CCTGACAGTCTGCAAAGAAACCAGAAAGAGCTCCAGGGCCTCCTGAACCAGGTGCAAGCC c.4440
P D S L Q R N Q K E L Q G L L N Q V Q A p.1480
. . . . . . g.12649
CTGGAGAAGGAGGCCGCAAGCAGTGTGGACGTGCAGGCCCTGCGGAGGCTCTTTGAGGCC c.4500
L E K E A A S S V D V Q A L R R L F E A p.1500
. . . . . . g.12709
GTGCCCCAGCTGGGAGGGGCTGCTCCTCAGGCTCCTGCTGCCCACCAAAAGCCCGAGGCC c.4560
V P Q L G G A A P Q A P A A H Q K P E A p.1520
. . . . . . g.12769
TCAGTGGAGCAGGCCTTTGGGGAGCTGACACGGGTCAGCACGGAAGTTGCTCAACTGAAG c.4620
S V E Q A F G E L T R V S T E V A Q L K p.1540
. . . . . . g.12829
GAACAGACCTTGGCAAGGCTGCTGGACATTGAAGAGGCTGTGCACAAGGCACTCAGCTCC c.4680
E Q T L A R L L D I E E A V H K A L S S p.1560
. . . . . . g.12889
ATGTCTAGCCTCCAGCCTGAGGCCAGTGCCAGAGGCCATTTCCAGGGACCTCCAAAAGAC c.4740
M S S L Q P E A S A R G H F Q G P P K D p.1580
. . . . . . g.12949
CACAGTGCCCACAAGATCAGTGTCACAGTCAGCAGTAGCGCCAGGCCCAGTGGCTCAGGC c.4800
H S A H K I S V T V S S S A R P S G S G p.1600
. . . . . . g.13009
CAGGAGGTCGGAGGTCAAACTGCAGTCAAGAACCAAGCCAAGGTTGAATGCCACACTGAG c.4860
Q E V G G Q T A V K N Q A K V E C H T E p.1620
. . . . . . g.13069
GCCCAGAGTCAAGTCAAGATCAGAAATCACACAGAGGCCAGAGGTCACACAGCCTCAACT c.4920
A Q S Q V K I R N H T E A R G H T A S T p.1640
. . . . . . g.13129
GCCCCTTCCACCAGGAGGCAGGAGACATCAAGAGAGTATTTGTGCCCTCCTCGGGTTTTA c.4980
A P S T R R Q E T S R E Y L C P P R V L p.1660
. . . . . . g.13189
CCTTCCAGCCGAGATTCTCCCTCCTCCCCAACATTTATCTCCATCCAGTCGGCCACAAGG c.5040
P S S R D S P S S P T F I S I Q S A T R p.1680
. . . . . . g.13249
AAGCCTCTAGAGACTCCCAGCTTTAAGGGCAACCCTGATGTCTCAGTGAAAAGCACACAA c.5100
K P L E T P S F K G N P D V S V K S T Q p.1700
. . . . . . g.13309
CTGGCTCAGGACATAGGCCAGGCCCTGCTCCACCAGAAAGGTGTCCAAGACAAAACTGGG c.5160
L A Q D I G Q A L L H Q K G V Q D K T G p.1720
. . . . . . g.13369
AAGAAGGACATCACCCAGTGCTCTGTGCAACCTGAACCTGCCCCTCCCTCAGCCAGTCCC c.5220
K K D I T Q C S V Q P E P A P P S A S P p.1740
. . . . . . g.13429
CTGCCCAGAGGGTGGCAAAAGAGTGTTCTGGAGCTACAGACGGGGCCAGGGAGCTCACAA c.5280
L P R G W Q K S V L E L Q T G P G S S Q p.1760
. . . . . . g.13489
CACTATGGAGCCATGAGAACCGTGACTGAACAGTATGAGGAGGTGGACCAGTTTGGGAAC c.5340
H Y G A M R T V T E Q Y E E V D Q F G N p.1780
. . . . . . g.13549
ACAGTCCTCATGTCTTCCACCACAGTCACCGAGCAGGCAGAGCCACCCAGGAACCCAGGC c.5400
T V L M S S T T V T E Q A E P P R N P G p.1800
. . . . . . g.13609
TCCCACCTCGGGCTCCACGCCTCCCCCTTGCTGAGGCAGTTCCTGCACAGCCCAGCTGGG c.5460
S H L G L H A S P L L R Q F L H S P A G p.1820
. . . . . . g.13669
TTCAGCAGTGACCTGACAGAAGCTGAGACGGTGCAGGTGTCCTGCAGCTACTCCCAGCCA c.5520
F S S D L T E A E T V Q V S C S Y S Q P p.1840
. g.13681
GCTGCCCAGTGA c.5532
A A Q X p.1843
. . . . . . g.13741
ggcccaccgcctcccaccacacctgccacctgttcctggcctccactgccccaggactga c.*60
. . . . . . g.13801
agtgggtacctgcctcctgtacactggagcaaggaccaagaggaaatggcatcttcagag c.*120
. . . . . . g.13861
gattactgtgggccatttccctttcgcagttctttcaataggcccagttcttccaaatgg c.*180
. . . . . . g.13921
aaaaagaaaggtctggaagaggcccacagagttgcacaggcgtgggggtaggatgggggc c.*240
. . . . . . g.13981
tcccagctgcttgtggaggatgtaatatatacagacacacacatgtttttcacacaggcc c.*300
. . . . . . g.14041
tggcccacgcatcgacatgtgtgaatttgcacaccactgcctgaattggagccccccaga c.*360
. . . . . . g.14101
gtgtccctctacccagagtttttatttctttaattagtctgagtgttcccagccatctgc c.*420
. . . . . . g.14161
tccttaatccctggagaggaacagagccaactggacacagcgttggtctctgtttggaat c.*480
. . . . . . g.14221
cactgtgaggtctccagaaggacctggccgccagccccttcatcaccatctccatcattc c.*540
. . . . . . g.14281
agctggtcatctggtggcccaaaggtcacccaaagagtcagcaatcagcatgtccctaga c.*600
. . . . . . g.14341
agccaaatgcactgcctttctctgtccccatgactgtcccccactctgcaccccaaatgg c.*660
. . . g.14379
gaagcatacggtctgaataaatccaagttttattctct c.*698
(downstream sequence)
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