Canonical Allele Identifier: CA349633949
Community Standard Title: NM_001267550.2(TTN):c.45495T>G (p.Tyr15165Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178621223A>C , CM000664.2:g.178621223A>C GRCh38
NC_000002.11:g.179485950A>C , CM000664.1:g.179485950A>C GRCh37
NC_000002.10:g.179194195A>C NCBI36
NG_011618.3:g.214580T>G , LRG_391:g.214580T>G
NG_051363.1:g.103397A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.45495T>G MANE Select NP_001254479.2:p.Tyr15165Ter
ENST00000589042.5:c.45495T>G MANE Select ENSP00000467141.1:p.Tyr15165Ter
NM_001256850.1:c.40572T>G NP_001243779.1:p.Tyr13524Ter
NM_003319.4:c.18300T>G NP_003310.4:p.Tyr6100Ter
NM_133378.4:c.37791T>G NP_596869.4:p.Tyr12597Ter
NM_133432.3:c.18675T>G NP_597676.3:p.Tyr6225Ter
NM_133437.4:c.18876T>G NP_597681.4:p.Tyr6292Ter
ENST00000342175.10:c.18876T>G ENSP00000340554.6:p.Tyr6292Ter
ENST00000342175.11:c.18876T>G ENSP00000340554.6:p.Tyr6292Ter
ENST00000342992.10:c.37791T>G ENSP00000343764.6:p.Tyr12597Ter
ENST00000342992.11:c.37791T>G ENSP00000343764.6:p.Tyr12597Ter
ENST00000359218.10:c.18675T>G ENSP00000352154.5:p.Tyr6225Ter
ENST00000359218.9:c.18675T>G ENSP00000352154.5:p.Tyr6225Ter
ENST00000460472.6:c.18300T>G ENSP00000434586.1:p.Tyr6100Ter
ENST00000591111.5:c.40572T>G ENSP00000465570.1:p.Tyr13524Ter
ENST00000615779.4:c.40572T>G ENSP00000483597.1:p.Tyr13524Ter
XM_011511729.1:c.44592T>G XP_011510031.1:p.Tyr14864Ter
XM_011511730.1:c.18486T>G XP_011510032.1:p.Tyr6162Ter
XM_011511731.1:c.18345T>G XP_011510033.1:p.Tyr6115Ter
XM_017004819.1:c.44388T>G XP_016860308.1:p.Tyr14796Ter
XM_017004820.1:c.39786T>G XP_016860309.1:p.Tyr13262Ter
XM_017004821.1:c.39783T>G XP_016860310.1:p.Tyr13261Ter
XM_017004822.1:c.36825T>G XP_016860311.1:p.Tyr12275Ter
XM_017004823.1:c.18441T>G XP_016860312.1:p.Tyr6147Ter
XM_024453094.1:c.39936T>G XP_024308862.1:p.Tyr13312Ter
XM_024453095.1:c.39933T>G XP_024308863.1:p.Tyr13311Ter
XM_024453096.1:c.39366T>G XP_024308864.1:p.Tyr13122Ter
XM_024453097.1:c.36708T>G XP_024308865.1:p.Tyr12236Ter
XM_024453098.1:c.36627T>G XP_024308866.1:p.Tyr12209Ter
XM_024453099.1:c.18390T>G XP_024308867.1:p.Tyr6130Ter
XM_024453100.1:c.8244T>G XP_024308868.1:p.Tyr2748Ter