Canonical Allele Identifier: CA349478520
Community Standard Title: NM_001267550.2(TTN):c.94032C>A (p.Tyr31344Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178547594G>T , CM000664.2:g.178547594G>T GRCh38
NC_000002.11:g.179412321G>T , CM000664.1:g.179412321G>T GRCh37
NC_000002.10:g.179120567G>T NCBI36
NG_011618.3:g.288209C>A , LRG_391:g.288209C>A
NG_051363.1:g.29768G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.94032C>A (TTN) MANE Select NP_001254479.2:p.Tyr31344Ter
ENST00000589042.5:c.94032C>A (TTN) MANE Select ENSP00000467141.1:p.Tyr31344Ter
NM_001256850.1:c.89109C>A (TTN) NP_001243779.1:p.Tyr29703Ter
NM_003319.4:c.66837C>A (TTN) NP_003310.4:p.Tyr22279Ter
NM_133378.4:c.86328C>A (TTN) NP_596869.4:p.Tyr28776Ter
NM_133432.3:c.67212C>A (TTN) NP_597676.3:p.Tyr22404Ter
NM_133437.4:c.67413C>A (TTN) NP_597681.4:p.Tyr22471Ter
NR_038271.1:n.447-23706G>T (TTN-AS1)
NR_038272.1:n.2043+5233G>T (TTN-AS1)
ENST00000342175.10:c.67413C>A (TTN) ENSP00000340554.6:p.Tyr22471Ter
ENST00000342175.11:c.67413C>A (TTN) ENSP00000340554.6:p.Tyr22471Ter
ENST00000342992.10:c.86328C>A (TTN) ENSP00000343764.6:p.Tyr28776Ter
ENST00000342992.11:c.86328C>A (TTN) ENSP00000343764.6:p.Tyr28776Ter
ENST00000359218.10:c.67212C>A (TTN) ENSP00000352154.5:p.Tyr22404Ter
ENST00000359218.9:c.67212C>A (TTN) ENSP00000352154.5:p.Tyr22404Ter
ENST00000460472.6:c.66837C>A (TTN) ENSP00000434586.1:p.Tyr22279Ter
ENST00000591111.5:c.89109C>A (TTN) ENSP00000465570.1:p.Tyr29703Ter
ENST00000615779.4:c.89109C>A (TTN) ENSP00000483597.1:p.Tyr29703Ter
XM_011511729.1:c.93129C>A (TTN) XP_011510031.1:p.Tyr31043Ter
XM_011511730.1:c.67023C>A (TTN) XP_011510032.1:p.Tyr22341Ter
XM_011511731.1:c.66882C>A (TTN) XP_011510033.1:p.Tyr22294Ter
XM_017004819.1:c.92925C>A (TTN) XP_016860308.1:p.Tyr30975Ter
XM_017004820.1:c.88323C>A (TTN) XP_016860309.1:p.Tyr29441Ter
XM_017004821.1:c.88320C>A (TTN) XP_016860310.1:p.Tyr29440Ter
XM_017004822.1:c.85362C>A (TTN) XP_016860311.1:p.Tyr28454Ter
XM_017004823.1:c.66978C>A (TTN) XP_016860312.1:p.Tyr22326Ter
XM_024453094.1:c.88473C>A (TTN) XP_024308862.1:p.Tyr29491Ter
XM_024453095.1:c.88470C>A (TTN) XP_024308863.1:p.Tyr29490Ter
XM_024453096.1:c.87903C>A (TTN) XP_024308864.1:p.Tyr29301Ter
XM_024453097.1:c.85245C>A (TTN) XP_024308865.1:p.Tyr28415Ter
XM_024453098.1:c.85164C>A (TTN) XP_024308866.1:p.Tyr28388Ter
XM_024453099.1:c.66927C>A (TTN) XP_024308867.1:p.Tyr22309Ter
XM_024453100.1:c.56781C>A (TTN) XP_024308868.1:p.Tyr18927Ter