Canonical Allele Identifier: CA1985764
Community Standard Title: NM_001267550.2(TTN):c.102363G>A (p.Lys34121=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534252C>T , CM000664.2:g.178534252C>T GRCh38
NC_000002.11:g.179398979C>T , CM000664.1:g.179398979C>T GRCh37
NC_000002.10:g.179107225C>T NCBI36
NG_011618.3:g.301551G>A , LRG_391:g.301551G>A
NG_051363.1:g.16426C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.102363G>A (TTN) MANE Select NP_001254479.2:p.Lys34121=
ENST00000589042.5:c.102363G>A (TTN) MANE Select ENSP00000467141.1:p.Lys34121=
NM_001256850.1:c.97440G>A (TTN) NP_001243779.1:p.Lys32480=
NM_003319.4:c.75168G>A (TTN) NP_003310.4:p.Lys25056=
NM_133378.4:c.94659G>A (TTN) NP_596869.4:p.Lys31553=
NM_133432.3:c.75543G>A (TTN) NP_597676.3:p.Lys25181=
NM_133437.4:c.75744G>A (TTN) NP_597681.4:p.Lys25248=
NR_038271.1:n.446+10616C>T (TTN-AS1)
NR_038272.1:n.220-1480C>T (TTN-AS1)
ENST00000342175.10:c.75744G>A (TTN) ENSP00000340554.6:p.Lys25248=
ENST00000342175.11:c.75744G>A (TTN) ENSP00000340554.6:p.Lys25248=
ENST00000342992.10:c.94659G>A (TTN) ENSP00000343764.6:p.Lys31553=
ENST00000342992.11:c.94659G>A (TTN) ENSP00000343764.6:p.Lys31553=
ENST00000359218.10:c.75543G>A (TTN) ENSP00000352154.5:p.Lys25181=
ENST00000359218.9:c.75543G>A (TTN) ENSP00000352154.5:p.Lys25181=
ENST00000460472.6:c.75168G>A (TTN) ENSP00000434586.1:p.Lys25056=
ENST00000591111.5:c.97440G>A (TTN) ENSP00000465570.1:p.Lys32480=
ENST00000615779.4:c.97440G>A (TTN) ENSP00000483597.1:p.Lys32480=
XM_011511729.1:c.101460G>A (TTN) XP_011510031.1:p.Lys33820=
XM_011511730.1:c.75354G>A (TTN) XP_011510032.1:p.Lys25118=
XM_011511731.1:c.75213G>A (TTN) XP_011510033.1:p.Lys25071=
XM_017004819.1:c.101256G>A (TTN) XP_016860308.1:p.Lys33752=
XM_017004820.1:c.96654G>A (TTN) XP_016860309.1:p.Lys32218=
XM_017004821.1:c.96651G>A (TTN) XP_016860310.1:p.Lys32217=
XM_017004822.1:c.93693G>A (TTN) XP_016860311.1:p.Lys31231=
XM_017004823.1:c.75309G>A (TTN) XP_016860312.1:p.Lys25103=
XM_024453094.1:c.96804G>A (TTN) XP_024308862.1:p.Lys32268=
XM_024453095.1:c.96801G>A (TTN) XP_024308863.1:p.Lys32267=
XM_024453096.1:c.96234G>A (TTN) XP_024308864.1:p.Lys32078=
XM_024453097.1:c.93576G>A (TTN) XP_024308865.1:p.Lys31192=
XM_024453098.1:c.93495G>A (TTN) XP_024308866.1:p.Lys31165=
XM_024453099.1:c.75258G>A (TTN) XP_024308867.1:p.Lys25086=
XM_024453100.1:c.65112G>A (TTN) XP_024308868.1:p.Lys21704=