(used for variant description)
(last modified July 24, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000550.2 in the TYRP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011705.1, covering TYRP1 transcript NM_000550.2.
(upstream sequence)
. . . . . g.5058
acagttctgacgtgagaggacaagaaacacaagcaaatataaaacattcaattctaag c.-121
. . . . | 02 . . g.5551
agaagttcatcagagacatccttcaggattgtgag | ctggattttcctctacgtgcttcag c.-61
. . . . . . g.5611
tcttctctacacaaagagctgcaaaccaggtctttgttttgcactcttatttcaagcaga c.-1
. . . . . . g.5671
ATGAGTGCTCCTAAACTCCTCTCTCTGGGCTGTATCTTCTTCCCCTTGCTACTTTTTCAG c.60
M S A P K L L S L G C I F F P L L L F Q p.20
. . . . . . g.5731
CAGGCCCGGGCTCAATTCCCAAGACAGTGTGCCACTGTTGAGGCTTTGAGAAGTGGTATG c.120
Q A R A Q F P R Q C A T V E A L R S G M p.40
. . . . . . g.5791
TGTTGCCCAGACCTGTCCCCTGTGTCTGGGCCTGGGACAGACCGCTGTGGCTCATCATCA c.180
C C P D L S P V S G P G T D R C G S S S p.60
. . . . . . g.5851
GGGAGGGGCAGATGTGAGGCAGTGACTGCAGACTCCCGGCCCCACAGCCCTCAGTATCCC c.240
G R G R C E A V T A D S R P H S P Q Y P p.80
. . . . . . g.5911
CATGATGGCAGAGATGATCGGGAGGTCTGGCCCTTGCGCTTCTTCAATAGGACATGTCAC c.300
H D G R D D R E V W P L R F F N R T C H p.100
. . . . . . g.5971
TGCAACGGCAATTTCTCAGGACACAACTGTGGGACGTGCCGTCCTGGCTGGAGAGGAGCT c.360
C N G N F S G H N C G T C R P G W R G A p.120
. . | 03 . . . . g.7164
GCCTGTGACCAGAGGGTTCTCATAG | TCAGGAGAAATCTTCTGGACTTAAGTAAAGAAGAA c.420
A C D Q R V L I V | R R N L L D L S K E E p.140
. . . . . . g.7224
AAGAACCACTTTGTCCGGGCCCTGGATATGGCAAAGCGCACAACTCACCCTTTATTTGTC c.480
K N H F V R A L D M A K R T T H P L F V p.160
. . . . . . g.7284
ATTGCCACCAGGAGATCAGAAGAAATACTGGGGCCAGATGGCAACACGCCACAATTTGAG c.540
I A T R R S E E I L G P D G N T P Q F E p.180
. . . . . . g.7344
AACATTTCCATTTATAACTACTTTGTTTGGACACACTATTACTCAGTCAAAAAGACTTTC c.600
N I S I Y N Y F V W T H Y Y S V K K T F p.200
. . . . . . g.7404
CTTGGGGTAGGACAGGAAAGCTTTGGTGAAGTGGATTTCTCTCATGAGGGACCAGCTTTT c.660
L G V G Q E S F G E V D F S H E G P A F p.220
. . . . | 04 . g.10077
CTCACATGGCACAGGTACCACCTCCTGCGTCTGGAGAAAGACATGCAG | GAAATGTTGCAA c.720
L T W H R Y H L L R L E K D M Q | E M L Q p.240
. . . . . . g.10137
GAGCCTTCTTTCTCCCTTCCTTACTGGAATTTTGCAACGGGGAAAAATGTCTGTGATATC c.780
E P S F S L P Y W N F A T G K N V C D I p.260
. . . . . . g.10197
TGCACGGATGACTTGATGGGATCCAGAAGCAACTTTGATTCCACTCTAATAAGCCCAAAC c.840
C T D D L M G S R S N F D S T L I S P N p.280
. . . . . . g.10257
TCTGTCTTTTCTCAATGGCGAGTGGTCTGTGACTCCTTGGAAGATTATGATACCCTGGGA c.900
S V F S Q W R V V C D S L E D Y D T L G p.300
. | 05 . . . . . g.13932
ACACTTTGTAACA | GCACCGAGGATGGGCCAATTAGGAGAAATCCAGCTGGAAATGTGGCC c.960
T L C N S | T E D G P I R R N P A G N V A p.320
. . . . . . g.13992
AGACCAATGGTGCAACGTCTTCCTGAACCACAGGATGTCGCTCAGTGCTTGGAAGTTGGT c.1020
R P M V Q R L P E P Q D V A Q C L E V G p.340
. . . . . . g.14052
TTATTTGACACGCCTCCTTTTTATTCCAACTCTACAAACAGTTTCCGAAACACAGTGGAA c.1080
L F D T P P F Y S N S T N S F R N T V E p.360
| 06 . . . . . . g.16199
G | GTTACAGTGACCCCACGGGAAAGTATGACCCTGCTGTTCGAAGTCTTCACAATTTGGCT c.1140
G | Y S D P T G K Y D P A V R S L H N L A p.380
. . . . . . g.16259
CATCTATTCCTGAATGGAACAGGGGGACAAACCCATTTGTCTCCAAATGATCCTATTTTT c.1200
H L F L N G T G G Q T H L S P N D P I F p.400
. . . . . . g.16319
GTCCTCCTGCACACCTTCACAGATGCAGTCTTTGATGAATGGCTGAGGAGATACAATGCT c.1260
V L L H T F T D A V F D E W L R R Y N A p.420
| 07 . . . . . . g.19670
G | ATATATCCACATTTCCATTGGAAAATGCCCCTATTGGACATAATAGACAATACAACATG c.1320
D | I S T F P L E N A P I G H N R Q Y N M p.440
. . . . . . g.19730
GTGCCATTCTGGCCCCCAGTCACCAACACAGAAATGTTTGTTACTGCTCCAGACAACCTG c.1380
V P F W P P V T N T E M F V T A P D N L p.460
. . | 08 . . . g.20623
GGATACACTTATGAAATTCAATGGCCAA | GTCGGGAGTTTAGTGTACCTGAGATAATTGCC c.1440
G Y T Y E I Q W P S | R E F S V P E I I A p.480
. . . . . . g.20683
ATAGCAGTAGTTGGCGCTTTGTTACTGGTTGCACTCATTTTTGGGACTGCTTCTTATCTG c.1500
I A V V G A L L L V A L I F G T A S Y L p.500
. . . . . . g.20743
ATTCGTGCCAGACGCAGTATGGATGAAGCTAACCAGCCTCTCCTCACTGATCAGTATCAA c.1560
I R A R R S M D E A N Q P L L T D Q Y Q p.520
. . . . . g.20797
TGCTATGCTGAAGAATATGAAAAACTCCAGAATCCTAATCAGTCTGTGGTCTAA c.1614
C Y A E E Y E K L Q N P N Q S V V X p.537
. . . . . . g.20857
caaatgccctactctcttatgcattagtatcacaaaaccacctggttgaatataatagat c.*60
. . . . . . g.20917
tgagttattaactgtattttctttcactttattaccttctttctaatacaagcatatgtt c.*120
. . . . . . g.20977
agcattaaagttctaggcatacttttcaaagctgggaagaccctttcagaatcttttcaa c.*180
. . . . . . g.21037
tgggttttaattttcagttctatttaaaatggtgaatgacactaaactccatgatattta c.*240
. . . . . . g.21097
aggatagtgtgaagatctttggcatgatttaaaggttgagtatgtgaagatataagtaag c.*300
. . . . . . g.21157
tgaactaccatgctttgtttacgtgtaaaggaaaataatgtttgatagtaaatgtccact c.*360
. . . . . . g.21217
taaaatacatgaatgggcatttctaaaatgttaaaacataaacacatttccattcatgga c.*420
. . . . . . g.21277
tatttgtcaacagatttaaagaaaaccacagttattaattaaagaaaattaattatgtgt c.*480
. . . . . . g.21337
agttataaaccaatgaaattttgattaaccttttcaaattaatgttccagtttgaagacc c.*540
. . . . . . g.21397
aatcaaatatattatttagtcaacatatactatttagtctcaggttcaaggctacaacaa c.*600
. . . . . . g.21457
aaatcaccatctttgtcaaactttggagagggaaaatcttcactttcttaagcaacaatg c.*660
. . . . . . g.21517
gatattgcctgtgtttgccactgtgtttccctgcctctcaattcgctgaaaaaggaacta c.*720
. . . . . . g.21577
cctatccttacatttcacctactaatgtctcttctaacatcttagaggtccatggagaag c.*780
. . . . . . g.21637
gcatatggagaacatgttttatactgctctataaatagtattccaatcactgtgcttaat c.*840
. . . . . . g.21697
ttaaatagcattatcttatcatttatcagccttttatgtattttccaagtaaaatattaa c.*900
. . . . . . g.21757
catattatttcattggtcttcttttttatctggttctatatgaatgctattttttccctt c.*960
. . . . . . g.21817
ctcttctaacatgaaatatattttctctttttgatcttgtgctatgaaacaatcttccaa c.*1020
. . . . . . g.21877
agaactgtataaggtggtcataagtgaatattttaattaaaattggtaaaaataaataat c.*1080
g.21881
aaca c.*1084
(downstream sequence)
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