Canonical Allele Identifier: CA349655875
Community Standard Title: NM_001267550.2(TTN):c.42108C>G (p.Tyr14036Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178634766G>C , CM000664.2:g.178634766G>C GRCh38
NC_000002.11:g.179499493G>C , CM000664.1:g.179499493G>C GRCh37
NC_000002.10:g.179207738G>C NCBI36
NG_011618.3:g.201037C>G , LRG_391:g.201037C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42108C>G MANE Select NP_001254479.2:p.Tyr14036Ter
ENST00000589042.5:c.42108C>G MANE Select ENSP00000467141.1:p.Tyr14036Ter
NM_001256850.1:c.37185C>G NP_001243779.1:p.Tyr12395Ter
NM_003319.4:c.14913C>G NP_003310.4:p.Tyr4971Ter
NM_133378.4:c.34404C>G NP_596869.4:p.Tyr11468Ter
NM_133432.3:c.15288C>G NP_597676.3:p.Tyr5096Ter
NM_133437.4:c.15489C>G NP_597681.4:p.Tyr5163Ter
ENST00000342175.10:c.15489C>G ENSP00000340554.6:p.Tyr5163Ter
ENST00000342175.11:c.15489C>G ENSP00000340554.6:p.Tyr5163Ter
ENST00000342992.10:c.34404C>G ENSP00000343764.6:p.Tyr11468Ter
ENST00000342992.11:c.34404C>G ENSP00000343764.6:p.Tyr11468Ter
ENST00000359218.10:c.15288C>G ENSP00000352154.5:p.Tyr5096Ter
ENST00000359218.9:c.15288C>G ENSP00000352154.5:p.Tyr5096Ter
ENST00000460472.6:c.14913C>G ENSP00000434586.1:p.Tyr4971Ter
ENST00000591111.5:c.37185C>G ENSP00000465570.1:p.Tyr12395Ter
ENST00000615779.4:c.37185C>G ENSP00000483597.1:p.Tyr12395Ter
XM_011511729.1:c.41205C>G XP_011510031.1:p.Tyr13735Ter
XM_011511730.1:c.15099C>G XP_011510032.1:p.Tyr5033Ter
XM_011511731.1:c.14958C>G XP_011510033.1:p.Tyr4986Ter
XM_017004819.1:c.41001C>G XP_016860308.1:p.Tyr13667Ter
XM_017004820.1:c.36399C>G XP_016860309.1:p.Tyr12133Ter
XM_017004821.1:c.36396C>G XP_016860310.1:p.Tyr12132Ter
XM_017004822.1:c.33438C>G XP_016860311.1:p.Tyr11146Ter
XM_017004823.1:c.15054C>G XP_016860312.1:p.Tyr5018Ter
XM_024453094.1:c.36549C>G XP_024308862.1:p.Tyr12183Ter
XM_024453095.1:c.36546C>G XP_024308863.1:p.Tyr12182Ter
XM_024453096.1:c.35979C>G XP_024308864.1:p.Tyr11993Ter
XM_024453097.1:c.33321C>G XP_024308865.1:p.Tyr11107Ter
XM_024453098.1:c.33240C>G XP_024308866.1:p.Tyr11080Ter
XM_024453099.1:c.15003C>G XP_024308867.1:p.Tyr5001Ter
XM_024453100.1:c.4857C>G XP_024308868.1:p.Tyr1619Ter