(used for variant description)
(last modified November 19, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_001010874.4 in the TECRL gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000004.11, covering TECRL transcript NM_001010874.4.
(upstream sequence)
. . . . g.5049
ataccatttgacctttcaaaggttctccagcagtatttaactgatgcaa c.-61
. . . . . . g.5109
aaggaacacacttgcaattttctacttttgacatgacagaccctcctcttagttcacaca c.-1
. . . . . . g.5169
ATGTTCAAAAGGCACAAGTCCCTCGCTTCGGAACGCAAGAGAGCATTACTTTCCCAAAGA c.60
M F K R H K S L A S E R K R A L L S Q R p.20
. . . . . . g.5229
GCTACACGGTTCATACTGAAGGATGATATGAGAAATTTTCACTTTTTGTCAAAACTTGTA c.120
A T R F I L K D D M R N F H F L S K L V p.40
. . . . . . g.5289
CTCTCAGCGGGCCCTCTAAGACCAACTCCAGCAGTCAAACATTCAAAAACGACTCACTTT c.180
L S A G P L R P T P A V K H S K T T H F p.60
. . . . . | 02 . g.39243
GAGATTGAAATATTTGATGCTCAAACAAGGAAACAGATATGTATTCTGGATAAG | GTGACA c.240
E I E I F D A Q T R K Q I C I L D K | V T p.80
. . . . | 03 . . g.85918
CAATCATCTACTATTCATGATGTTAAGCAAAAGTTTCACAAAGCAT | GTCCAAAGTGGTAC c.300
Q S S T I H D V K Q K F H K A C | P K W Y p.100
. . . | 04 . . . g.91697
CCTTCTCGAGTTGGTCTGCAGCTAGAATGTG | GCGGGCCTTTTTTGAAGGACTACATTACC c.360
P S R V G L Q L E C G | G P F L K D Y I T p.120
. . . . . . g.91757
ATTCAAAGTATTGCAGCTTCCTCCATTGTCACACTGTATGCTACAGACCTAGGTCAACAA c.420
I Q S I A A S S I V T L Y A T D L G Q Q p.140
. | 05 . . . . . g.99742
GTCAGTTGGACCACA | GTGTTTTTGGCTGAATACACAGGACCTCTGCTAATATACCTCCTC c.480
V S W T T | V F L A E Y T G P L L I Y L L p.160
. . . . . . g.99802
TTTTATTTGAGGATCCCATGTATATATGATGGAAAAGAGAGTGCTAGAAGATTACGCCAC c.540
F Y L R I P C I Y D G K E S A R R L R H p.180
. | 06 . . . . . g.104578
CCAGTGGTACA | CTTGGCTTGCTTCTGTCATTGTATACACTACATCCGATACCTTTTGGAA c.600
P V V H | L A C F C H C I H Y I R Y L L E p.200
. . . . . | 07. g.109225
ACCTTATTTGTTCACAAAGTTTCTGCAGGACACACACCTTTGAAAAATTTGATAATG | AGT c.660
T L F V H K V S A G H T P L K N L I M | S p.220
. . . . . . g.109285
TGTGCCTTTTACTGGGGATTTACTTCTTGGATTGCCTACTACATTAATCATCCACTATAT c.720
C A F Y W G F T S W I A Y Y I N H P L Y p.240
. | 08 . . . . | 09 . g.124699
ACACCACCAT | CATTTGGAAACAGGCAAATCACAGTATCTGCTATCAATTTTCTG | ATTTGT c.780
T P P S | F G N R Q I T V S A I N F L | I C p.260
. . . . . | 10 . g.132909
GAAGCTGGGAATCATTTCATCAATGTAATGTTGTCTCATCCCAATCACACAG | GAAACAAT c.840
E A G N H F I N V M L S H P N H T G | N N p.280
. . . . . . g.132969
GCCTGTTTCCCAAGTCCAAATTATAACCCCTTCACATGGATGTTTTTCCTGGTTTCATGT c.900
A C F P S P N Y N P F T W M F F L V S C p.300
. | 11 . . . . g.133416
CCTAACTACACCTATGAG | ATTGGATCATGGATTAGTTTCACAGTCATGACACAAACACTG c.960
P N Y T Y E | I G S W I S F T V M T Q T L p.320
| 12 . . . . . . g.134317
CCAG | TTGGAATTTTTACACTTCTGATGAGTATCCAGATGTCTTTGTGGGCACAAAAGAAA c.1020
P V | G I F T L L M S I Q M S L W A Q K K p.340
. . . . . . g.134377
CATAAGATTTATCTGAGAAAATTCAATTCATATATTCATAGAAAATCAGCAATGATTCCA c.1080
H K I Y L R K F N S Y I H R K S A M I P p.360
. g.134389
TTCATATTGTAA c.1092
F I L X p.363
. . . . . . g.134449
aaaaagaatcttatctcctatagaaaacagcaacatataaattcaataaataagacttag c.*60
. . . . . . g.134509
ttaaggatagttaactattatactccaacaattcatgagcaacagtatatacactgagta c.*120
. . . . . . g.134569
aaaatataaaatagtaaaatttcactaaatttagagaaatgcacatggtaataaaaagta c.*180
. . . . . . g.134629
taaattataaatgcaattaactaagaacagctctgaatgtatttgcatgggattggtcct c.*240
. . . . . . g.134689
tgaataaaattgtcttacttcattaatacttcacaatactatttgcataagacaaaatac c.*300
. . . . . . g.134749
cacagcaaaaaaaaaaatctgattaacaaatgaaaaagcgatctgaacagacatttccca c.*360
. . . . . . g.134809
aaggaagacatatacatggtcaataagtatatttttaaaatgctcaacattaactattca c.*420
. . . . . . g.134869
tacagaaatgcaaatcaaaaccacaatgagatatcatctcatcctaattaaggtgactat c.*480
. . . . . . g.134929
tttcaaaaagacaaaaaatatgacagccgtggtggttcatatctgtaatcctaacacttt c.*540
. . . . . . g.134989
gacaggccaaggcaggggaattgcttgagttcagaagtttgagatctgggcaacatattg c.*600
. . . . . . g.135049
agactctgtctctaaaaagcatattgagactctgtctctacaaaaaaattttaaaaagta c.*660
. . . . . . g.135109
aaaattagctgggcgtggtggcacatgccagtaggtagtcccagctactcgaggttgctc c.*720
. . . . . . g.135169
cagctcaggcgttcaaggctacagagagccatgattaaaccaaggcactccagcctgggt c.*780
. . . . . . g.135229
gacagagtgagactgtctcaaaataaaataaaaataacatattggtgaagatgcgggaaa c.*840
. . . . . . g.135289
aaaaaaagaactcttagacactgctggtgggaatgtaaactagagcagccatgtggagaa c.*900
. . . . . . g.135349
caacatggactttcttcaaaaattacaaatagaactatcatatgatccagcaataccatt c.*960
. . . . . . g.135409
actggaaaaaggaaatctgtatattaaagagacatttgaaccctatgtttactgcagcac c.*1020
. . . . . . g.135469
tattcacaatagccaagatataggagcaacctaggtgtccaacaacagatgaatggataa c.*1080
. . . . . . g.135529
agaaaatgtggtatatatacacaatagaatactatgcagccataaaaactgaattcctgt c.*1140
. . . . . . g.135589
cattcaggacaacatggatggaattggagggcatatgttaagtgaaacaagccaggaaca c.*1200
. . . . . . g.135649
gaaagttaaacattgcatgttattacttatatgtggaagctaaaaaaattgatatcatag c.*1260
. . . . . . g.135709
aagtaaaaaataaaacagaggatactacaggctgggaaagctgcagcaaagggagactag c.*1320
. . . . . . g.135769
agagagatttgttaaaggatacaaagttacagcttggtaggaggaataatttctggtgtt c.*1380
. . . . . . g.135829
ctataccactgtaggacgactatagttaagaacattatattccatttagtttcaaatagc c.*1440
. . . . . . g.135889
taaaaggagattttgtccccaacaaaaagaaatgataaatatttgaaaccatggatactc c.*1500
. . . . . . g.135949
taatttctctgatctgaccactataaattatatgtattgaaacattattatgtatctccc c.*1560
. . . . . g.136002
aaatatgttcaattcttatgtcgctcaaaaaataaaatttaatttaaaaagta c.*1613
(downstream sequence)
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