Canonical Allele Identifier: CA1985705
Community Standard Title: NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533825G>A , CM000664.2:g.178533825G>A GRCh38
NC_000002.11:g.179398552G>A , CM000664.1:g.179398552G>A GRCh37
NC_000002.10:g.179106798G>A NCBI36
NG_011618.3:g.301978C>T , LRG_391:g.301978C>T
NG_051363.1:g.15999G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.102790C>T (TTN) MANE Select NP_001254479.2:p.Leu34264Phe
ENST00000589042.5:c.102790C>T (TTN) MANE Select ENSP00000467141.1:p.Leu34264Phe
NM_001256850.1:c.97867C>T (TTN) NP_001243779.1:p.Leu32623Phe
NM_003319.4:c.75595C>T (TTN) NP_003310.4:p.Leu25199Phe
NM_133378.4:c.95086C>T (TTN) NP_596869.4:p.Leu31696Phe
NM_133432.3:c.75970C>T (TTN) NP_597676.3:p.Leu25324Phe
NM_133437.4:c.76171C>T (TTN) NP_597681.4:p.Leu25391Phe
NR_038271.1:n.446+10189G>A (TTN-AS1)
NR_038272.1:n.220-1907G>A (TTN-AS1)
ENST00000342175.10:c.76171C>T (TTN) ENSP00000340554.6:p.Leu25391Phe
ENST00000342175.11:c.76171C>T (TTN) ENSP00000340554.6:p.Leu25391Phe
ENST00000342992.10:c.95086C>T (TTN) ENSP00000343764.6:p.Leu31696Phe
ENST00000342992.11:c.95086C>T (TTN) ENSP00000343764.6:p.Leu31696Phe
ENST00000359218.10:c.75970C>T (TTN) ENSP00000352154.5:p.Leu25324Phe
ENST00000359218.9:c.75970C>T (TTN) ENSP00000352154.5:p.Leu25324Phe
ENST00000460472.6:c.75595C>T (TTN) ENSP00000434586.1:p.Leu25199Phe
ENST00000591111.5:c.97867C>T (TTN) ENSP00000465570.1:p.Leu32623Phe
ENST00000615779.4:c.97867C>T (TTN) ENSP00000483597.1:p.Leu32623Phe
XM_011511729.1:c.101887C>T (TTN) XP_011510031.1:p.Leu33963Phe
XM_011511730.1:c.75781C>T (TTN) XP_011510032.1:p.Leu25261Phe
XM_011511731.1:c.75640C>T (TTN) XP_011510033.1:p.Leu25214Phe
XM_017004819.1:c.101683C>T (TTN) XP_016860308.1:p.Leu33895Phe
XM_017004820.1:c.97081C>T (TTN) XP_016860309.1:p.Leu32361Phe
XM_017004821.1:c.97078C>T (TTN) XP_016860310.1:p.Leu32360Phe
XM_017004822.1:c.94120C>T (TTN) XP_016860311.1:p.Leu31374Phe
XM_017004823.1:c.75736C>T (TTN) XP_016860312.1:p.Leu25246Phe
XM_024453094.1:c.97231C>T (TTN) XP_024308862.1:p.Leu32411Phe
XM_024453095.1:c.97228C>T (TTN) XP_024308863.1:p.Leu32410Phe
XM_024453096.1:c.96661C>T (TTN) XP_024308864.1:p.Leu32221Phe
XM_024453097.1:c.94003C>T (TTN) XP_024308865.1:p.Leu31335Phe
XM_024453098.1:c.93922C>T (TTN) XP_024308866.1:p.Leu31308Phe
XM_024453099.1:c.75685C>T (TTN) XP_024308867.1:p.Leu25229Phe
XM_024453100.1:c.65539C>T (TTN) XP_024308868.1:p.Leu21847Phe