Canonical Allele Identifier: CA349467389

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546302A>T , CM000664.2:g.178546302A>T GRCh38
NC_000002.11:g.179411029A>T , CM000664.1:g.179411029A>T GRCh37
NC_000002.10:g.179119275A>T NCBI36
NG_011618.3:g.289501T>A , LRG_391:g.289501T>A
NG_051363.1:g.28476A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.87325T>A (TTN) ENSP00000343764.6:p.Phe29109Ile
ENST00000342175.11:c.68410T>A (TTN) ENSP00000340554.6:p.Phe22804Ile
ENST00000359218.10:c.68209T>A (TTN) ENSP00000352154.5:p.Phe22737Ile
ENST00000342175.10:c.68410T>A (TTN) ENSP00000340554.6:p.Phe22804Ile
ENST00000342992.10:c.87325T>A (TTN) ENSP00000343764.6:p.Phe29109Ile
ENST00000359218.9:c.68209T>A (TTN) ENSP00000352154.5:p.Phe22737Ile
ENST00000460472.6:c.67834T>A (TTN) ENSP00000434586.1:p.Phe22612Ile
ENST00000589042.5:c.95029T>A (TTN) MANE Select ENSP00000467141.1:p.Phe31677Ile
ENST00000591111.5:c.90106T>A (TTN) ENSP00000465570.1:p.Phe30036Ile
ENST00000615779.4:c.90106T>A (TTN) ENSP00000483597.1:p.Phe30036Ile
NM_001256850.1:c.90106T>A (TTN) NP_001243779.1:p.Phe30036Ile
NM_001267550.2:c.95029T>A (TTN) MANE Select NP_001254479.2:p.Phe31677Ile
NM_003319.4:c.67834T>A (TTN) NP_003310.4:p.Phe22612Ile
NM_133378.4:c.87325T>A (TTN) NP_596869.4:p.Phe29109Ile
NM_133432.3:c.68209T>A (TTN) NP_597676.3:p.Phe22737Ile
NM_133437.4:c.68410T>A (TTN) NP_597681.4:p.Phe22804Ile
NR_038271.1:n.446+22666A>T (TTN-AS1)
NR_038272.1:n.2043+3941A>T (TTN-AS1)
XM_011511729.1:c.94126T>A (TTN) XP_011510031.1:p.Phe31376Ile
XM_011511730.1:c.68020T>A (TTN) XP_011510032.1:p.Phe22674Ile
XM_011511731.1:c.67879T>A (TTN) XP_011510033.1:p.Phe22627Ile
XM_017004819.1:c.93922T>A (TTN) XP_016860308.1:p.Phe31308Ile
XM_017004820.1:c.89320T>A (TTN) XP_016860309.1:p.Phe29774Ile
XM_017004821.1:c.89317T>A (TTN) XP_016860310.1:p.Phe29773Ile
XM_017004822.1:c.86359T>A (TTN) XP_016860311.1:p.Phe28787Ile
XM_017004823.1:c.67975T>A (TTN) XP_016860312.1:p.Phe22659Ile
XM_024453094.1:c.89470T>A (TTN) XP_024308862.1:p.Phe29824Ile
XM_024453095.1:c.89467T>A (TTN) XP_024308863.1:p.Phe29823Ile
XM_024453096.1:c.88900T>A (TTN) XP_024308864.1:p.Phe29634Ile
XM_024453097.1:c.86242T>A (TTN) XP_024308865.1:p.Phe28748Ile
XM_024453098.1:c.86161T>A (TTN) XP_024308866.1:p.Phe28721Ile
XM_024453099.1:c.67924T>A (TTN) XP_024308867.1:p.Phe22642Ile
XM_024453100.1:c.57778T>A (TTN) XP_024308868.1:p.Phe19260Ile