Canonical Allele Identifier: CA349649946
Community Standard Title: NM_001267550.2(TTN):c.43576C>T (p.Arg14526Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178632318G>A , CM000664.2:g.178632318G>A GRCh38
NC_000002.11:g.179497045G>A , CM000664.1:g.179497045G>A GRCh37
NC_000002.10:g.179205290G>A NCBI36
NG_011618.3:g.203485C>T , LRG_391:g.203485C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.43576C>T MANE Select NP_001254479.2:p.Arg14526Ter
ENST00000589042.5:c.43576C>T MANE Select ENSP00000467141.1:p.Arg14526Ter
NM_001256850.1:c.38653C>T NP_001243779.1:p.Arg12885Ter
NM_003319.4:c.16381C>T NP_003310.4:p.Arg5461Ter
NM_133378.4:c.35872C>T NP_596869.4:p.Arg11958Ter
NM_133432.3:c.16756C>T NP_597676.3:p.Arg5586Ter
NM_133437.4:c.16957C>T NP_597681.4:p.Arg5653Ter
ENST00000342175.10:c.16957C>T ENSP00000340554.6:p.Arg5653Ter
ENST00000342175.11:c.16957C>T ENSP00000340554.6:p.Arg5653Ter
ENST00000342992.10:c.35872C>T ENSP00000343764.6:p.Arg11958Ter
ENST00000342992.11:c.35872C>T ENSP00000343764.6:p.Arg11958Ter
ENST00000359218.10:c.16756C>T ENSP00000352154.5:p.Arg5586Ter
ENST00000359218.9:c.16756C>T ENSP00000352154.5:p.Arg5586Ter
ENST00000460472.6:c.16381C>T ENSP00000434586.1:p.Arg5461Ter
ENST00000591111.5:c.38653C>T ENSP00000465570.1:p.Arg12885Ter
ENST00000615779.4:c.38653C>T ENSP00000483597.1:p.Arg12885Ter
XM_011511729.1:c.42673C>T XP_011510031.1:p.Arg14225Ter
XM_011511730.1:c.16567C>T XP_011510032.1:p.Arg5523Ter
XM_011511731.1:c.16426C>T XP_011510033.1:p.Arg5476Ter
XM_017004819.1:c.42469C>T XP_016860308.1:p.Arg14157Ter
XM_017004820.1:c.37867C>T XP_016860309.1:p.Arg12623Ter
XM_017004821.1:c.37864C>T XP_016860310.1:p.Arg12622Ter
XM_017004822.1:c.34906C>T XP_016860311.1:p.Arg11636Ter
XM_017004823.1:c.16522C>T XP_016860312.1:p.Arg5508Ter
XM_024453094.1:c.38017C>T XP_024308862.1:p.Arg12673Ter
XM_024453095.1:c.38014C>T XP_024308863.1:p.Arg12672Ter
XM_024453096.1:c.37447C>T XP_024308864.1:p.Arg12483Ter
XM_024453097.1:c.34789C>T XP_024308865.1:p.Arg11597Ter
XM_024453098.1:c.34708C>T XP_024308866.1:p.Arg11570Ter
XM_024453099.1:c.16471C>T XP_024308867.1:p.Arg5491Ter
XM_024453100.1:c.6325C>T XP_024308868.1:p.Arg2109Ter