(used for variant description)
(last modified March 25, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_153700.2 in the STRC gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011636.1, covering STRC transcript NM_153700.2.
(upstream sequence)
. g.5018
gccctgccctcacctggc c.-61
. . . . . . g.5078
tatcccacacaggtgagaataaccagaactcacctccggtaccagtgttcacttggaaac c.-1
. . . . . . g.5138
ATGGCTCTCAGCCTCTGGCCCCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTCCTTT c.60
M A L S L W P L L L L L L L L L L L S F p.20
| 02 . . . . . . g.5500
GCAG | TGACTCTGGCCCCTACTGGGCCTCATTCCCTGGACCCTGGTCTCTCCTTCCTGAAG c.120
A V | T L A P T G P H S L D P G L S F L K p.40
. . . . . . g.5560
TCATTGCTCTCCACTCTGGACCAGGCTCCCCAGGGCTCCCTGAGCCGCTCACGGTTCTTT c.180
S L L S T L D Q A P Q G S L S R S R F F p.60
. . . . . . g.5620
ACATTCCTGGCCAACATTTCTTCTTCCTTTGAGCCTGGGAGAATGGGGGAAGGACCAGTA c.240
T F L A N I S S S F E P G R M G E G P V p.80
. . . . . . g.5680
GGAGAGCCCCCACCTCTCCAGCCGCCTGCTCTGCGGCTCCATGATTTTCTAGTGACACTG c.300
G E P P P L Q P P A L R L H D F L V T L p.100
. . . . . . g.5740
AGAGGTAGCCCCGACTGGGAGCCAATGCTAGGGCTGCTAGGGGATATGCTGGCACTGCTG c.360
R G S P D W E P M L G L L G D M L A L L p.120
. . . . . . g.5800
GGACAGGAGCAGACTCCCCGAGATTTCCTGGTGCACCAGGCAGGGGTGCTGGGTGGACTT c.420
G Q E Q T P R D F L V H Q A G V L G G L p.140
. . . . . . g.5860
GTGGAGGTGCTGCTGGGAGCCTTAGTTCCTGGGGGCCCCCCTACCCCAACTCGGCCCCCA c.480
V E V L L G A L V P G G P P T P T R P P p.160
. . . . . . g.5920
TGCACCCGTGATGGGCCGTCTGACTGTGTCCTGGCTGCTGACTGGTTGCCTTCTCTGCTG c.540
C T R D G P S D C V L A A D W L P S L L p.180
. . . . . . g.5980
CTGTTGTTAGAGGGCACACGCTGGCAAGCTCTGGTGCAGGTGCAGCCCAGTGTGGACCCC c.600
L L L E G T R W Q A L V Q V Q P S V D P p.200
. . . . . . g.6040
ACCAATGCCACAGGCCTCGATGGGAGGGAGGCAGCTCCTCACTTTTTGCAGGGTCTGTTG c.660
T N A T G L D G R E A A P H F L Q G L L p.220
. . . . . . g.6100
GGTTTGCTTACCCCAACAGGGGAGCTAGGCTCCAAGGAGGCTCTTTGGGGCGGTCTGCTA c.720
G L L T P T G E L G S K E A L W G G L L p.240
. . . . . . g.6160
CGCACAGTGGGGGCCCCCCTCTATGCTGCCTTTCAGGAGGGGCTGCTCCGTGTCACTCAC c.780
R T V G A P L Y A A F Q E G L L R V T H p.260
. . . . . . g.6220
TCCCTGCAGGATGAGGTCTTCTCCATTTTGGGGCAGCCAGAGCCTGATACCAATGGGCAG c.840
S L Q D E V F S I L G Q P E P D T N G Q p.280
. | 03 . . | 04 . . . g.7135
TGCCAGGGAG | GTAACCTTCAACAGCTGCTCTTATG | GGGCGTCCGGCACAACCTTTCCTGG c.900
C Q G G | N L Q Q L L L W | G V R H N L S W p.300
. . . . . . g.7195
GATGTCCAGGCGCTGGGCTTTCTGTCTGGATCACCACCCCCACCCCCTGCCCTCCTTCAC c.960
D V Q A L G F L S G S P P P P P A L L H p.320
. . . . . . g.7255
TGCCTGAGCACGGGCGTGCCTCTGCCCAGAGCTTCTCAGCCGTCAGCCCACATCAGCCCA c.1020
C L S T G V P L P R A S Q P S A H I S P p.340
. . . . . . g.7315
CGCCAACGGCGAGCCATCACTGTGGAGGCCCTCTGTGAGAACCACTTAGGCCCAGCACCA c.1080
R Q R R A I T V E A L C E N H L G P A P p.360
. . . . . . g.7375
CCCTACAGCATTTCCAACTTCTCCATCCACTTGCTCTGCCAGCACACCAAGCCTGCCACT c.1140
P Y S I S N F S I H L L C Q H T K P A T p.380
. . . . . . g.7435
CCACAGCCCCATCCCAGCACCACTGCCATCTGCCAGACAGCTGTGTGGTATGCAGTGTCC c.1200
P Q P H P S T T A I C Q T A V W Y A V S p.400
. . . . . . g.7495
TGGGCACCAGGTGCCCAAGGCTGGCTACAGGCCTGCCACGACCAGTTTCCTGATGAGTTT c.1260
W A P G A Q G W L Q A C H D Q F P D E F p.420
. . . . . . g.7555
TTGGATGCGATCTGCAGTAACCTCTCCTTTTCAGCCCTGTCTGGCTCCAACCGCCGCCTG c.1320
L D A I C S N L S F S A L S G S N R R L p.440
. . . . . . g.7615
GTGAAGCGGCTCTGTGCTGGCCTGCTCCCACCCCCTACCAGCTGCCCTGAAGGCCTGCCC c.1380
V K R L C A G L L P P P T S C P E G L P p.460
. . . . . . g.7675
CCTGTTCCCCTCACCCCAGACATCTTTTGGGGCTGCTTCTTGGAGAATGAGACTCTGTGG c.1440
P V P L T P D I F W G C F L E N E T L W p.480
. . . . . . g.7735
GCTGAGCGACTGTGTGGGGAGGCAAGTCTACAGGCTGTGCCCCCCAGCAACCAGGCTTGG c.1500
A E R L C G E A S L Q A V P P S N Q A W p.500
. . . . . . g.7795
GTCCAGCATGTGTGCCAGGGCCCCACCCCAGATGTCACTGCCTCCCCACCATGCCACATT c.1560
V Q H V C Q G P T P D V T A S P P C H I p.520
. . . . . . g.7855
GGACCCTGTGGGGAACGCTGCCCGGATGGGGGCAGCTTCCTGGTGATGGTCTGTGCCAAT c.1620
G P C G E R C P D G G S F L V M V C A N p.540
. . . . . . g.7915
GACACCATGTATGAGGTCCTGGTGCCCTTCTGGCCTTGGCTAGCAGGCCAATGCAGGATA c.1680
D T M Y E V L V P F W P W L A G Q C R I p.560
. . . . . . g.7975
AGTCGTGGGGGCAATGACACTTGCTTCCTAGAAGGGCTGCTGGGCCCCCTTCTGCCCTCT c.1740
S R G G N D T C F L E G L L G P L L P S p.580
. . . . . . g.8035
CTGCCACCACTGGGACCATCCCCACTCTGTCTGACCCCTGGCCCCTTCCTCCTTGGCATG c.1800
L P P L G P S P L C L T P G P F L L G M p.600
. . . . . . g.8095
CTATCCCAGTTGCCACGCTGTCAGTCCTCTGTCCCAGCTCTTGCTCACCCCACACGCCTA c.1860
L S Q L P R C Q S S V P A L A H P T R L p.620
. . . . . . g.8155
CACTATCTCCTCCGCCTGCTGACCTTCCTCTTGGGTCCAGGGGCTGGGGGCGCTGAGGCC c.1920
H Y L L R L L T F L L G P G A G G A E A p.640
. . . . . . g.8215
CAGGGGATGCTGGGTCGGGCCCTACTGCTCTCCAGTCTCCCAGACAACTGCTCCTTCTGG c.1980
Q G M L G R A L L L S S L P D N C S F W p.660
. . . . . . g.8275
GATGCCTTTCGCCCAGAGGGCCGGCGCAGTGTGCTACGGACGATTGGGGAATACCTGGAA c.2040
D A F R P E G R R S V L R T I G E Y L E p.680
. . . . . . g.8335
CAAGATGAGGAGCAGCCAACCCCATCAGGCTTTGAACCCACTGTCAACCCCAGCTCTGGT c.2100
Q D E E Q P T P S G F E P T V N P S S G p.700
. . . | 05 . . . g.9351
ATAAGCAAGATGGAGCTGCTGGCCTGCTTTAGT | CCTGTGCTGTGGGATCTGCTCCAGAGG c.2160
I S K M E L L A C F S | P V L W D L L Q R p.720
. . . | 06 . . . g.9512
GAAAAGAGTGTTTGGGCCCTGCAGATTCTAGTGCAG | GCGTACCTGCATATGCCCCCAGAA c.2220
E K S V W A L Q I L V Q | A Y L H M P P E p.740
. . . . . . g.9572
AACCTCCAGCAGCTGGTGCTTTCAGCAGAGAGGGAGGCTGCACAGGGCTTCCTGACACTC c.2280
N L Q Q L V L S A E R E A A Q G F L T L p.760
. . . | 07 . . . g.9774
ATGCTGCAGGGGAAGCTGCAGGGGAAGCTGCAG | GTACCACCATCCGAGGAGCAGGCCCTG c.2340
M L Q G K L Q G K L Q | V P P S E E Q A L p.780
. . . . . . g.9834
GGTCGCCTGACAGCCCTGCTGCTCCAGCGGTACCCACGCCTCACCTCCCAGCTCTTCATT c.2400
G R L T A L L L Q R Y P R L T S Q L F I p.800
. . . . . . g.9894
GACCTGTCACCACTCATCCCTTTCTTGGCTGTCTCTGACCTGATGCGCTTCCCACCATCC c.2460
D L S P L I P F L A V S D L M R F P P S p.820
. . | 08 . . . . g.10609
CTGTTAGCCAACGACAGTGT | CCTGGCTGCCATCCGGGATTACAGCCCAGGAATGAGGCCT c.2520
L L A N D S V | L A A I R D Y S P G M R P p.840
. . . . . . g.10669
GAACAGAAGGAGGCTCTGGCAAAGCGACTGCTGGCCCCTGAACTGTTTGGGGAAGTGCCT c.2580
E Q K E A L A K R L L A P E L F G E V P p.860
. . . . . . g.10729
GCCTGGCCCCAGGAGCTGCTGTGGGCAGTGCTGCCCCTGCTCCCCCACCTCCCTCTGGAG c.2640
A W P Q E L L W A V L P L L P H L P L E p.880
. . | 09. . . . g.10927
AACTTTTTGCAGCTCAGCCCTCACCAG | ATCCAGGCCCTGGAGGATAGCTGGCCAGCAGCA c.2700
N F L Q L S P H Q | I Q A L E D S W P A A p.900
. . . . . . g.10987
GGTCTGGGGCCAGGGCATGCCCGCCATGTGCTGCGCAGCCTGGTAAACCAGAGTGTCCAG c.2760
G L G P G H A R H V L R S L V N Q S V Q p.920
. . | 10 . . . . g.11328
GATGGTGAGGAGCAGGTACGCAG | GCTTGGGCCCCTCGCCTGTTTCCTGAGCCCTGAGGAG c.2820
D G E E Q V R R | L G P L A C F L S P E E p.940
. . . . . . g.11388
CTGCAGAGCCTAGTGCCCCTGAGTGATCCAACGGGGCCAGTAGAACGGGGGCTGCTGGAA c.2880
L Q S L V P L S D P T G P V E R G L L E p.960
. . . | 11 . . . g.11800
TGTGCAGCCAATGGGACCCTCAGCCCAGAAGGACGG | GTGGCATATGAACTTCTGGGTGTG c.2940
C A A N G T L S P E G R | V A Y E L L G V p.980
. . . . . . g.11860
TTGCGCTCATCTGGAGGAGCGGTGCTGAGCCCCCGGGAGCTGCGGGTCTGGGCCCCTCTC c.3000
L R S S G G A V L S P R E L R V W A P L p.1000
. . . . . . g.11920
TTCTCTCAGCTGGGCCTCCGCTTCCTTCAGGAGCTGTCAGAGCCCCAGCTTAGAGCCATG c.3060
F S Q L G L R F L Q E L S E P Q L R A M p.1020
. . . | 12 . . g.12284
CTTCCTGTCCTGCAGGGAACTAGTGTTACACCTGCTCAG | GCTGTCCTGCTGCTTGGACGG c.3120
L P V L Q G T S V T P A Q | A V L L L G R p.1040
. | 13 . . . . g.12527
CTCCTTCCTAGGCACGAT | CTATCCCTGGAGGAACTCTGCTCCTTGCACCTTCTGCTACCA c.3180
L L P R H D | L S L E E L C S L H L L L P p.1060
. . . . . . g.12587
GGCCTCAGCCCCCAGACACTCCAGGCCATCCCTAGGCGAGTCCTGGTCGGGGCTTGTTCC c.3240
G L S P Q T L Q A I P R R V L V G A C S p.1080
. . . . . . g.12647
TGCCTGGCCCCTGAACTGTCACGCCTCTCAGCCTGCCAGACCGCAGCACTGCTGCAGACC c.3300
C L A P E L S R L S A C Q T A A L L Q T p.1100
| 14 . . . . . . g.12870
TTTCGG | GTTAAAGATGGTGTTAAAAATATGGGTACAACAGGTGCTGGTCCAGCTGTGTGT c.3360
F R | V K D G V K N M G T T G A G P A V C p.1120
. | 15 . . . . . g.13411
ATCCCTGGTCAG | CCTATTCCCACCACCTGGCCAGACTGCCTGCTTCCCCTGCTCCCATTA c.3420
I P G Q | P I P T T W P D C L L P L L P L p.1140
. . . . . . g.13471
AAGCTGCTACAACTGGATTCCTTGGCTCTTCTGGCAAATCGAAGACGCTACTGGGAGCTG c.3480
K L L Q L D S L A L L A N R R R Y W E L p.1160
. | 16 . . . . g.14508
CCCTGGTCTGAGCAGCAG | GCACAGTTTCTCTGGAAGAAGATGCAAGTACCCACCAACCTT c.3540
P W S E Q Q | A Q F L W K K M Q V P T N L p.1180
. | 17. . . . . g.15640
ACCCTCAGGAATCTGCA | GGCTCTGGGCACCCTGGCAGGAGGCATGTCCTGTGAGTTTCTG c.3600
T L R N L Q | A L G T L A G G M S C E F L p.1200
. . . . . . g.15700
CAGCAGATCAACTCCATGGTAGACTTCCTTGAAGTGGTGCACATGATCTATCAGCTGCCC c.3660
Q Q I N S M V D F L E V V H M I Y Q L P p.1220
. . | 18 . . . . g.15864
ACTAGAGTTCGAGGGAGCCTG | AGGGCCTGTATCTGGGCAGAGCTACAGCGGAGGATGGCA c.3720
T R V R G S L | R A C I W A E L Q R R M A p.1240
. . . . . . g.15924
ATGCCAGAACCAGAATGGACAACTGTAGGGCCAGAACTGAACGGGCTGGATAGCAAGCTA c.3780
M P E P E W T T V G P E L N G L D S K L p.1260
. | 19 . . . . . g.18447
CTCCTGGACTTACC | GATCCAGTTGATGGACAGACTATCCAATGAATCCATTATGTTGGTG c.3840
L L D L P | I Q L M D R L S N E S I M L V p.1280
. . . . . . g.18507
GTGGAGCTGGTGCAAAGAGCTCCAGAGCAGCTGCTGGCACTGACCCCCCTCCACCAGGCA c.3900
V E L V Q R A P E Q L L A L T P L H Q A p.1300
. . . | 20 . . . g.18984
GCCCTGGCAGAGAGGGCACTACAAAACCTG | GCTCCAAAGGAGACTCCAGTCTCAGGGGAA c.3960
A L A E R A L Q N L | A P K E T P V S G E p.1320
. . . . . . g.19044
GTGCTGGAGACCTTAGGCCCTTTGGTTGGATTCCTGGGGACAGAGAGCACACGACAGATC c.4020
V L E T L G P L V G F L G T E S T R Q I p.1340
. . . . . . g.19104
CCCCTACAGATCCTGCTGTCCCATCTCAGTCAGCTGCAAGGCTTCTGCCTAGGAGAGACA c.4080
P L Q I L L S H L S Q L Q G F C L G E T p.1360
. . . . | 21. . g.19362
TTTGCCACAGAGCTGGGATGGCTGCTATTGCAGGAGTCTGTTCTTGG | GAAACCAGAGTTG c.4140
F A T E L G W L L L Q E S V L G | K P E L p.1380
. . . . . . g.19422
TGGAGCCAGGATGAAGTAGAGCAAGCTGGACGCCTAGTATTCACTCTGTCTACTGAGGCA c.4200
W S Q D E V E Q A G R L V F T L S T E A p.1400
. | 22 . . . . g.19690
ATTTCCTTGATCCCCAGG | GAGGCCTTGGGTCCAGAGACCCTGGAGCGGCTTCTAGAAAAG c.4260
I S L I P R | E A L G P E T L E R L L E K p.1420
. . . . . . g.19750
CAGCAGAGCTGGGAGCAGAGCAGAGTTGGACAGCTGTGTAGGGAGCCACAGCTTGCTGCC c.4320
Q Q S W E Q S R V G Q L C R E P Q L A A p.1440
. . . . . | 23 . g.20394
AAGAAAGCAGCCCTGGTAGCAGGGGTGGTGCGACCAGCTGCTGAGGATCTTCCAG | AACCT c.4380
K K A A L V A G V V R P A A E D L P E | P p.1460
. . . . . . g.20454
GTGCCAAATTGTGCAGATGTACGAGGGACATTCCCAGCAGCCTGGTCTGCAACCCAGATT c.4440
V P N C A D V R G T F P A A W S A T Q I p.1480
. . . . . . g.20514
GCAGAGATGGAGCTCTCAGACTTTGAGGACTGCCTGACATTATTTGCAGGAGACCCAGGA c.4500
A E M E L S D F E D C L T L F A G D P G p.1500
. . . . | 24 . . g.22264
CTTGGGCCTGAGGAACTGCGGGCAGCCATGGGCAAAGCAAAACAG | TTGTGGGGTCCCCCC c.4560
L G P E E L R A A M G K A K Q | L W G P P p.1520
. . . . . . g.22324
CGGGGATTTCGTCCTGAGCAGATCCTGCAGCTTGGTAGGCTCTTAATAGGTCTAGGAGAT c.4620
R G F R P E Q I L Q L G R L L I G L G D p.1540
. . . . . . g.22384
CGGGAACTACAGGAGCTGATCCTAGTGGACTGGGGAGTGCTGAGCACCCTGGGGCAGATA c.4680
R E L Q E L I L V D W G V L S T L G Q I p.1560
. . | 25 . . . . g.22825
GATGGCTGGAGCACCACTCAG | CTCCGCATTGTGGTCTCCAGTTTCCTACGGCAGAGTGGT c.4740
D G W S T T Q | L R I V V S S F L R Q S G p.1580
. . . . . . g.22885
CGGCATGTGAGCCACCTGGACTTCGTTCATCTGACAGCGCTGGGTTATACTCTCTGTGGA c.4800
R H V S H L D F V H L T A L G Y T L C G p.1600
. . . . | 26 . . g.23134
CTGCGGCCAGAGGAGCTCCAGCACATCAGCAGTTGGGAGTTCAG | CCAAGCAGCTCTCTTC c.4860
L R P E E L Q H I S S W E F S | Q A A L F p.1620
. . . . . . g.23194
CTCGGCACCCTGCATCTCCAGTGCTCTGAGGAACAACTGGAGGTTCTGGCCCACCTACTT c.4920
L G T L H L Q C S E E Q L E V L A H L L p.1640
. . . . . . g.23254
GTACTGCCTGGTGGGTTTGGCCCAATCAGTAACTGGGGGCCTGAGATCTTCACTGAAATT c.4980
V L P G G F G P I S N W G P E I F T E I p.1660
. | 27 . . . . . g.23554
GGCACCATAGCAG | CTGGGATCCCAGACCTGGCTCTTTCAGCACTGCTGCGGGGACAGATC c.5040
G T I A A | G I P D L A L S A L L R G Q I p.1680
. . . . . | 28 . g.23702
CAGGGCGTTACTCCTCTTGCCATTTCTGTCATCCCTCCTCCTAAATTTGCT | GTGGTGTTT c.5100
Q G V T P L A I S V I P P P K F A | V V F p.1700
. . . . . . g.23762
AGTCCCATCCAACTATCTAGTCTCACCAGTGCTCAGGCTGTGGCTGTCACTCCTGAGCAA c.5160
S P I Q L S S L T S A Q A V A V T P E Q p.1720
. . . . . . g.23822
ATGGCCTTTCTGAGTCCTGAGCAGCGACGAGCAGTTGCATGGGCCCAACATGAGGGAAAG c.5220
M A F L S P E Q R R A V A W A Q H E G K p.1740
. | 29 . . . . g.24081
GAGAGCCCAGAACAGCAAG | GTCGAAGTACAGCCTGGGGCCTCCAGGACTGGTCACGACCT c.5280
E S P E Q Q G | R S T A W G L Q D W S R P p.1760
. . . . g.24129
TCCTGGTCCCTGGTATTGACTATCAGCTTCCTTGGCCACCTGCTATGA c.5328
S W S L V L T I S F L G H L L X p.1775
. . . . . . g.24189
gcctgtctctacagtagaaggagattgtggggagagaaatcttaagtcataatgaataaa c.*60
. . . . g.24238
gtgcaaacagaagtgcatcctgattattttcagaagctgatgaggaata c.*109
(downstream sequence)
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