Canonical Allele Identifier: CA349406042

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530284G>T , CM000664.2:g.178530284G>T GRCh38
NC_000002.11:g.179395011G>T , CM000664.1:g.179395011G>T GRCh37
NC_000002.10:g.179103257G>T NCBI36
NG_011618.3:g.305519C>A , LRG_391:g.305519C>A
NG_051363.1:g.12458G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98627C>A (TTN) ENSP00000343764.6:p.Thr32876Asn
ENST00000342175.11:c.79712C>A (TTN) ENSP00000340554.6:p.Thr26571Asn
ENST00000359218.10:c.79511C>A (TTN) ENSP00000352154.5:p.Thr26504Asn
ENST00000342175.10:c.79712C>A (TTN) ENSP00000340554.6:p.Thr26571Asn
ENST00000342992.10:c.98627C>A (TTN) ENSP00000343764.6:p.Thr32876Asn
ENST00000359218.9:c.79511C>A (TTN) ENSP00000352154.5:p.Thr26504Asn
ENST00000460472.6:c.79136C>A (TTN) ENSP00000434586.1:p.Thr26379Asn
ENST00000589042.5:c.106331C>A (TTN) MANE Select ENSP00000467141.1:p.Thr35444Asn
ENST00000591111.5:c.101408C>A (TTN) ENSP00000465570.1:p.Thr33803Asn
ENST00000615779.4:c.101408C>A (TTN) ENSP00000483597.1:p.Thr33803Asn
NM_001256850.1:c.101408C>A (TTN) NP_001243779.1:p.Thr33803Asn
NM_001267550.2:c.106331C>A (TTN) MANE Select NP_001254479.2:p.Thr35444Asn
NM_003319.4:c.79136C>A (TTN) NP_003310.4:p.Thr26379Asn
NM_133378.4:c.98627C>A (TTN) NP_596869.4:p.Thr32876Asn
NM_133432.3:c.79511C>A (TTN) NP_597676.3:p.Thr26504Asn
NM_133437.4:c.79712C>A (TTN) NP_597681.4:p.Thr26571Asn
NR_038271.1:n.446+6648G>T (TTN-AS1)
NR_038272.1:n.220-5448G>T (TTN-AS1)
XM_011511729.1:c.105428C>A (TTN) XP_011510031.1:p.Thr35143Asn
XM_011511730.1:c.79322C>A (TTN) XP_011510032.1:p.Thr26441Asn
XM_011511731.1:c.79181C>A (TTN) XP_011510033.1:p.Thr26394Asn
XM_017004819.1:c.105224C>A (TTN) XP_016860308.1:p.Thr35075Asn
XM_017004820.1:c.100622C>A (TTN) XP_016860309.1:p.Thr33541Asn
XM_017004821.1:c.100619C>A (TTN) XP_016860310.1:p.Thr33540Asn
XM_017004822.1:c.97661C>A (TTN) XP_016860311.1:p.Thr32554Asn
XM_017004823.1:c.79277C>A (TTN) XP_016860312.1:p.Thr26426Asn
XM_024453094.1:c.100772C>A (TTN) XP_024308862.1:p.Thr33591Asn
XM_024453095.1:c.100769C>A (TTN) XP_024308863.1:p.Thr33590Asn
XM_024453096.1:c.100202C>A (TTN) XP_024308864.1:p.Thr33401Asn
XM_024453097.1:c.97544C>A (TTN) XP_024308865.1:p.Thr32515Asn
XM_024453098.1:c.97463C>A (TTN) XP_024308866.1:p.Thr32488Asn
XM_024453099.1:c.79226C>A (TTN) XP_024308867.1:p.Thr26409Asn
XM_024453100.1:c.69080C>A (TTN) XP_024308868.1:p.Thr23027Asn