Canonical Allele Identifier: CA349417209
Community Standard Title: NM_001267550.2(TTN):c.102585T>A (p.Tyr34195Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534030A>T , CM000664.2:g.178534030A>T GRCh38
NC_000002.11:g.179398757A>T , CM000664.1:g.179398757A>T GRCh37
NC_000002.10:g.179107003A>T NCBI36
NG_011618.3:g.301773T>A , LRG_391:g.301773T>A
NG_051363.1:g.16204A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.102585T>A (TTN) MANE Select NP_001254479.2:p.Tyr34195Ter
ENST00000589042.5:c.102585T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr34195Ter
NM_001256850.1:c.97662T>A (TTN) NP_001243779.1:p.Tyr32554Ter
NM_003319.4:c.75390T>A (TTN) NP_003310.4:p.Tyr25130Ter
NM_133378.4:c.94881T>A (TTN) NP_596869.4:p.Tyr31627Ter
NM_133432.3:c.75765T>A (TTN) NP_597676.3:p.Tyr25255Ter
NM_133437.4:c.75966T>A (TTN) NP_597681.4:p.Tyr25322Ter
NR_038271.1:n.446+10394A>T (TTN-AS1)
NR_038272.1:n.220-1702A>T (TTN-AS1)
ENST00000342175.10:c.75966T>A (TTN) ENSP00000340554.6:p.Tyr25322Ter
ENST00000342175.11:c.75966T>A (TTN) ENSP00000340554.6:p.Tyr25322Ter
ENST00000342992.10:c.94881T>A (TTN) ENSP00000343764.6:p.Tyr31627Ter
ENST00000342992.11:c.94881T>A (TTN) ENSP00000343764.6:p.Tyr31627Ter
ENST00000359218.10:c.75765T>A (TTN) ENSP00000352154.5:p.Tyr25255Ter
ENST00000359218.9:c.75765T>A (TTN) ENSP00000352154.5:p.Tyr25255Ter
ENST00000460472.6:c.75390T>A (TTN) ENSP00000434586.1:p.Tyr25130Ter
ENST00000591111.5:c.97662T>A (TTN) ENSP00000465570.1:p.Tyr32554Ter
ENST00000615779.4:c.97662T>A (TTN) ENSP00000483597.1:p.Tyr32554Ter
XM_011511729.1:c.101682T>A (TTN) XP_011510031.1:p.Tyr33894Ter
XM_011511730.1:c.75576T>A (TTN) XP_011510032.1:p.Tyr25192Ter
XM_011511731.1:c.75435T>A (TTN) XP_011510033.1:p.Tyr25145Ter
XM_017004819.1:c.101478T>A (TTN) XP_016860308.1:p.Tyr33826Ter
XM_017004820.1:c.96876T>A (TTN) XP_016860309.1:p.Tyr32292Ter
XM_017004821.1:c.96873T>A (TTN) XP_016860310.1:p.Tyr32291Ter
XM_017004822.1:c.93915T>A (TTN) XP_016860311.1:p.Tyr31305Ter
XM_017004823.1:c.75531T>A (TTN) XP_016860312.1:p.Tyr25177Ter
XM_024453094.1:c.97026T>A (TTN) XP_024308862.1:p.Tyr32342Ter
XM_024453095.1:c.97023T>A (TTN) XP_024308863.1:p.Tyr32341Ter
XM_024453096.1:c.96456T>A (TTN) XP_024308864.1:p.Tyr32152Ter
XM_024453097.1:c.93798T>A (TTN) XP_024308865.1:p.Tyr31266Ter
XM_024453098.1:c.93717T>A (TTN) XP_024308866.1:p.Tyr31239Ter
XM_024453099.1:c.75480T>A (TTN) XP_024308867.1:p.Tyr25160Ter
XM_024453100.1:c.65334T>A (TTN) XP_024308868.1:p.Tyr21778Ter