Canonical Allele Identifier: CA141043
Community Standard Title: NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560153A>G , CM000664.2:g.178560153A>G GRCh38
NC_000002.11:g.179424880A>G , CM000664.1:g.179424880A>G GRCh37
NC_000002.10:g.179133126A>G NCBI36
NG_011618.3:g.275650T>C , LRG_391:g.275650T>C
NG_051363.1:g.42327A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85979T>C (TTN) MANE Select NP_001254479.2:p.Ile28660Thr
ENST00000589042.5:c.85979T>C (TTN) MANE Select ENSP00000467141.1:p.Ile28660Thr
NM_001256850.1:c.81056T>C (TTN) NP_001243779.1:p.Ile27019Thr
NM_003319.4:c.58784T>C (TTN) NP_003310.4:p.Ile19595Thr
NM_133378.4:c.78275T>C (TTN) NP_596869.4:p.Ile26092Thr
NM_133432.3:c.59159T>C (TTN) NP_597676.3:p.Ile19720Thr
NM_133437.4:c.59360T>C (TTN) NP_597681.4:p.Ile19787Thr
NR_038271.1:n.447-11147A>G (TTN-AS1)
NR_038272.1:n.2043+17792A>G (TTN-AS1)
ENST00000342175.10:c.59360T>C (TTN) ENSP00000340554.6:p.Ile19787Thr
ENST00000342175.11:c.59360T>C (TTN) ENSP00000340554.6:p.Ile19787Thr
ENST00000342992.10:c.78275T>C (TTN) ENSP00000343764.6:p.Ile26092Thr
ENST00000342992.11:c.78275T>C (TTN) ENSP00000343764.6:p.Ile26092Thr
ENST00000359218.10:c.59159T>C (TTN) ENSP00000352154.5:p.Ile19720Thr
ENST00000359218.9:c.59159T>C (TTN) ENSP00000352154.5:p.Ile19720Thr
ENST00000460472.6:c.58784T>C (TTN) ENSP00000434586.1:p.Ile19595Thr
ENST00000591111.5:c.81056T>C (TTN) ENSP00000465570.1:p.Ile27019Thr
ENST00000615779.4:c.81056T>C (TTN) ENSP00000483597.1:p.Ile27019Thr
XM_011511729.1:c.85076T>C (TTN) XP_011510031.1:p.Ile28359Thr
XM_011511730.1:c.58970T>C (TTN) XP_011510032.1:p.Ile19657Thr
XM_011511731.1:c.58829T>C (TTN) XP_011510033.1:p.Ile19610Thr
XM_017004819.1:c.84872T>C (TTN) XP_016860308.1:p.Ile28291Thr
XM_017004820.1:c.80270T>C (TTN) XP_016860309.1:p.Ile26757Thr
XM_017004821.1:c.80267T>C (TTN) XP_016860310.1:p.Ile26756Thr
XM_017004822.1:c.77309T>C (TTN) XP_016860311.1:p.Ile25770Thr
XM_017004823.1:c.58925T>C (TTN) XP_016860312.1:p.Ile19642Thr
XM_024453094.1:c.80420T>C (TTN) XP_024308862.1:p.Ile26807Thr
XM_024453095.1:c.80417T>C (TTN) XP_024308863.1:p.Ile26806Thr
XM_024453096.1:c.79850T>C (TTN) XP_024308864.1:p.Ile26617Thr
XM_024453097.1:c.77192T>C (TTN) XP_024308865.1:p.Ile25731Thr
XM_024453098.1:c.77111T>C (TTN) XP_024308866.1:p.Ile25704Thr
XM_024453099.1:c.58874T>C (TTN) XP_024308867.1:p.Ile19625Thr
XM_024453100.1:c.48728T>C (TTN) XP_024308868.1:p.Ile16243Thr