Canonical Allele Identifier: CA430111669
Community Standard Title: NM_001267550.2(TTN):c.46596G>A (p.Lys15532=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178619721C>T , CM000664.2:g.178619721C>T GRCh38
NC_000002.11:g.179484448C>T , CM000664.1:g.179484448C>T GRCh37
NC_000002.10:g.179192693C>T NCBI36
NG_011618.3:g.216082G>A , LRG_391:g.216082G>A
NG_051363.1:g.101895C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.46596G>A (TTN) MANE Select NP_001254479.2:p.Lys15532=
ENST00000589042.5:c.46596G>A (TTN) MANE Select ENSP00000467141.1:p.Lys15532=
NM_001256850.1:c.41673G>A (TTN) NP_001243779.1:p.Lys13891=
NM_003319.4:c.19401G>A (TTN) NP_003310.4:p.Lys6467=
NM_133378.4:c.38892G>A (TTN) NP_596869.4:p.Lys12964=
NM_133432.3:c.19776G>A (TTN) NP_597676.3:p.Lys6592=
NM_133437.4:c.19977G>A (TTN) NP_597681.4:p.Lys6659=
NR_038271.1:n.1605-32C>T (TTN-AS1)
ENST00000342175.10:c.19977G>A (TTN) ENSP00000340554.6:p.Lys6659=
ENST00000342175.11:c.19977G>A (TTN) ENSP00000340554.6:p.Lys6659=
ENST00000342992.10:c.38892G>A (TTN) ENSP00000343764.6:p.Lys12964=
ENST00000342992.11:c.38892G>A (TTN) ENSP00000343764.6:p.Lys12964=
ENST00000359218.10:c.19776G>A (TTN) ENSP00000352154.5:p.Lys6592=
ENST00000359218.9:c.19776G>A (TTN) ENSP00000352154.5:p.Lys6592=
ENST00000460472.6:c.19401G>A (TTN) ENSP00000434586.1:p.Lys6467=
ENST00000591111.5:c.41673G>A (TTN) ENSP00000465570.1:p.Lys13891=
ENST00000615779.4:c.41673G>A (TTN) ENSP00000483597.1:p.Lys13891=
XM_011511729.1:c.45693G>A (TTN) XP_011510031.1:p.Lys15231=
XM_011511730.1:c.19587G>A (TTN) XP_011510032.1:p.Lys6529=
XM_011511731.1:c.19446G>A (TTN) XP_011510033.1:p.Lys6482=
XM_017004819.1:c.45489G>A (TTN) XP_016860308.1:p.Lys15163=
XM_017004820.1:c.40887G>A (TTN) XP_016860309.1:p.Lys13629=
XM_017004821.1:c.40884G>A (TTN) XP_016860310.1:p.Lys13628=
XM_017004822.1:c.37926G>A (TTN) XP_016860311.1:p.Lys12642=
XM_017004823.1:c.19542G>A (TTN) XP_016860312.1:p.Lys6514=
XM_024453094.1:c.41037G>A (TTN) XP_024308862.1:p.Lys13679=
XM_024453095.1:c.41034G>A (TTN) XP_024308863.1:p.Lys13678=
XM_024453096.1:c.40467G>A (TTN) XP_024308864.1:p.Lys13489=
XM_024453097.1:c.37809G>A (TTN) XP_024308865.1:p.Lys12603=
XM_024453098.1:c.37728G>A (TTN) XP_024308866.1:p.Lys12576=
XM_024453099.1:c.19491G>A (TTN) XP_024308867.1:p.Lys6497=
XM_024453100.1:c.9345G>A (TTN) XP_024308868.1:p.Lys3115=