(used for variant description)
(last modified December 24, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_133368.1 in the RSPRY1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering RSPRY1 transcript NM_133368.1.
(upstream sequence)
. . . g.5038
ctctgcgcgtaatggcagcgccgtggcctcgcgtccat c.-241
. . . . . . g.5098
ctttgccgttctctcggacctgtcacaaaggagtcgcgccgccgccgccgccccctccct c.-181
. . . | 02 . . . g.23210
ccggtgggcccgggaggtagagaaa | aactgccattggatgtccagaatcccctgtagttg c.-121
. . . . . . g.23270
ataatgttgggaataagctctgcaactttctttggcattcagttgttaaaaacaaatagg c.-61
. . . . . . g.23330
atgcaaattcctcaactccaggttatgaaaacagtacttggaaaactgaaaactacctaa c.-1
. . . . . . g.23390
ATGATCGTCTTTGGTTGGGCCGTGTTCTTAGCGAGCAGAAGCCTTGGCCAGGGTCTGTTG c.60
M I V F G W A V F L A S R S L G Q G L L p.20
. . . . . . g.23450
TTGACTCTCGAAGAGCACATAGCCCACTTCCTAGGGACTGGAGGTGCCGCTACTACCATG c.120
L T L E E H I A H F L G T G G A A T T M p.40
. . . . . . g.23510
GGTAATTCCTGTATCTGCCGAGATGACAGTGGAACAGATGACAGTGTTGACACCCAACAG c.180
G N S C I C R D D S G T D D S V D T Q Q p.60
. . . . . . g.23570
CAACAGGCCGAGAACAGTGCAGTACCCACTGCTGACACAAGGAGCCAACCACGGGACCCT c.240
Q Q A E N S A V P T A D T R S Q P R D P p.80
. . . . . . g.23630
GTTCGGCCACCAAGGAGGGGCCGAGGACCTCATGAGCCAAGGAGAAAGAAACAAAATGTG c.300
V R P P R R G R G P H E P R R K K Q N V p.100
. . . . . | 03 . g.26739
GATGGGCTAGTGTTGGACACACTGGCAGTAATACGGACTCTTGTAGATAA | TGATCAGGAA c.360
D G L V L D T L A V I R T L V D N | D Q E p.120
. . . . | 04 . . g.27763
CCTCCCTATTCAATGATAACATTACACGAAATGGCAGAAACAG | ATGAAGGATGGTTGGAT c.420
P P Y S M I T L H E M A E T D | E G W L D p.140
. . . . . . g.27823
GTTGTCCAGTCTTTAATTAGAGTTATTCCACTGGAAGATCCACTGGGACCAGCTGTTATA c.480
V V Q S L I R V I P L E D P L G P A V I p.160
. . . | 05 . . . g.31667
ACATTGTTACTAGATGAATGTCCATTGCCCACTAAA | GATGCACTCCAGAAATTGACTGAA c.540
T L L L D E C P L P T K | D A L Q K L T E p.180
. . . . . . g.31727
ATTCTCAATTTAAATGGAGAAGTAGCTTGCCAGGACTCAAGCCATCCTGCCAAACACAGG c.600
I L N L N G E V A C Q D S S H P A K H R p.200
. . . . | 06 . . g.32576
AACACATCTGCAGTCCTAGGCTGCTTGGCCGAGAAACTAGCAG | GTCCTGCAAGTATAGGT c.660
N T S A V L G C L A E K L A G | P A S I G p.220
. . . . | 07 . . g.34796
TTACTTAGCCCAGGAATACTGGAATACTTGCTACAGTGTCTG | AAGTTACAGTCCCACCCC c.720
L L S P G I L E Y L L Q C L | K L Q S H P p.240
. . . . | 08 . g.35586
ACAGTCATGCTTTTTGCACTTATCGCACTGGAAAAGTTTGCACAGACAA | GTGAAAATAAA c.780
T V M L F A L I A L E K F A Q T S | E N K p.260
. . . . . . g.35646
TTGACTATTTCTGAATCCAGTATTAGTGACCGGCTTGTCACATTGGAGTCCTGGGCTAAT c.840
L T I S E S S I S D R L V T L E S W A N p.280
. . . . . . g.35706
GATCCTGATTATCTGAAACGTCAAGTTGGTTTCTGTGCCCAGTGGAGCTTAGACAATCTC c.900
D P D Y L K R Q V G F C A Q W S L D N L p.300
| 09 . . . . . . g.39462
T | TTTTAAAAGAAGGTAGACAGCTGACCTATGAGAAAGTGAACTTGAGTAGCATTAGGGCC c.960
F | L K E G R Q L T Y E K V N L S S I R A p.320
. . . . . | 10. g.39946
ATGCTGAATAGCAATGATGTCAGCGAGTACCTGAAGATCTCACCTCATGGCTTAGAG | GCT c.1020
M L N S N D V S E Y L K I S P H G L E | A p.340
. . . . . . g.40006
CGCTGTGATGCCTCCTCTTTTGAAAGTGTGCGTTGCACCTTTTGTGTGGATGCCGGGGTA c.1080
R C D A S S F E S V R C T F C V D A G V p.360
. . . . . . g.40066
TGGTACTATGAAGTAACAGTGGTCACTTCTGGCGTCATGCAGATTGGCTGGGCCACTCGA c.1140
W Y Y E V T V V T S G V M Q I G W A T R p.380
. . | 11 . . . . g.46052
GACAGCAAATTCCTCAATCAT | GAAGGCTACGGCATTGGGGATGATGAATACTCCTGTGCG c.1200
D S K F L N H | E G Y G I G D D E Y S C A p.400
. . . . . . g.46112
TATGATGGCTGCCGGCAGCTGATTTGGTACAATGCCAGAAGTAAGCCTCACATACACCCA c.1260
Y D G C R Q L I W Y N A R S K P H I H P p.420
. | 12 . . . . . g.49429
TGCTGGAAAGAAG | GAGATACAGTAGGATTTCTGTTAGACTTGAATGAAAAGCAAATGATC c.1320
C W K E G | D T V G F L L D L N E K Q M I p.440
. . . . . | 13 . g.49842
TTCTTTTTAAATGGCAACCAGCTGCCTCCTGAAAAGCAAGTCTTTTCATCTACTGT | ATCT c.1380
F F L N G N Q L P P E K Q V F S S T V | S p.460
. . . . . . g.49902
GGATTTTTTGCTGCAGCTAGTTTCATGTCATATCAACAATGTGAGTTCAATTTTGGAGCA c.1440
G F F A A A S F M S Y Q Q C E F N F G A p.480
. . . . . . g.49962
AAACCATTCAAATACCCACCATCTATGAAATTTAGCACTTTTAATGACTACGCCTTCCTA c.1500
K P F K Y P P S M K F S T F N D Y A F L p.500
. . | 14 . . . g.53826
ACAGCTGAAGAAAAAATCATTTTGCCAAG | GCACAGGCGTCTTGCTCTGTTGAAGCAAGTC c.1560
T A E E K I I L P R | H R R L A L L K Q V p.520
. . . . . . g.53886
AGTATCCGAGAAAACTGCTGTTCCCTTTGTTGTGATGAGGTAGCAGACACACAATTGAAG c.1620
S I R E N C C S L C C D E V A D T Q L K p.540
. | 15 . . . . . g.57596
CCATGTGGACACAG | TGACCTGTGCATGGATTGTGCCTTGCAGCTGGAGACCTGCCCATTG c.1680
P C G H S | D L C M D C A L Q L E T C P L p.560
. . . . . g.57647
TGTCGTAAAGAAATAGTATCTAGAATCAGACAGATTTCTCATATTTCATGA c.1731
C R K E I V S R I R Q I S H I S X p.576
. . . . . . g.57707
cacatgtgaagaggcatcgtggacttttttctactcaattccagccaatgttgaaaagaa c.*60
g.57710
aaa c.*63
(downstream sequence)
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