Canonical Allele Identifier: CA349655057
Community Standard Title: NM_001267550.2(TTN):c.42343C>T (p.Gln14115Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178634438G>A , CM000664.2:g.178634438G>A GRCh38
NC_000002.11:g.179499165G>A , CM000664.1:g.179499165G>A GRCh37
NC_000002.10:g.179207410G>A NCBI36
NG_011618.3:g.201365C>T , LRG_391:g.201365C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42343C>T MANE Select NP_001254479.2:p.Gln14115Ter
ENST00000589042.5:c.42343C>T MANE Select ENSP00000467141.1:p.Gln14115Ter
NM_001256850.1:c.37420C>T NP_001243779.1:p.Gln12474Ter
NM_003319.4:c.15148C>T NP_003310.4:p.Gln5050Ter
NM_133378.4:c.34639C>T NP_596869.4:p.Gln11547Ter
NM_133432.3:c.15523C>T NP_597676.3:p.Gln5175Ter
NM_133437.4:c.15724C>T NP_597681.4:p.Gln5242Ter
ENST00000342175.10:c.15724C>T ENSP00000340554.6:p.Gln5242Ter
ENST00000342175.11:c.15724C>T ENSP00000340554.6:p.Gln5242Ter
ENST00000342992.10:c.34639C>T ENSP00000343764.6:p.Gln11547Ter
ENST00000342992.11:c.34639C>T ENSP00000343764.6:p.Gln11547Ter
ENST00000359218.10:c.15523C>T ENSP00000352154.5:p.Gln5175Ter
ENST00000359218.9:c.15523C>T ENSP00000352154.5:p.Gln5175Ter
ENST00000460472.6:c.15148C>T ENSP00000434586.1:p.Gln5050Ter
ENST00000591111.5:c.37420C>T ENSP00000465570.1:p.Gln12474Ter
ENST00000615779.4:c.37420C>T ENSP00000483597.1:p.Gln12474Ter
XM_011511729.1:c.41440C>T XP_011510031.1:p.Gln13814Ter
XM_011511730.1:c.15334C>T XP_011510032.1:p.Gln5112Ter
XM_011511731.1:c.15193C>T XP_011510033.1:p.Gln5065Ter
XM_017004819.1:c.41236C>T XP_016860308.1:p.Gln13746Ter
XM_017004820.1:c.36634C>T XP_016860309.1:p.Gln12212Ter
XM_017004821.1:c.36631C>T XP_016860310.1:p.Gln12211Ter
XM_017004822.1:c.33673C>T XP_016860311.1:p.Gln11225Ter
XM_017004823.1:c.15289C>T XP_016860312.1:p.Gln5097Ter
XM_024453094.1:c.36784C>T XP_024308862.1:p.Gln12262Ter
XM_024453095.1:c.36781C>T XP_024308863.1:p.Gln12261Ter
XM_024453096.1:c.36214C>T XP_024308864.1:p.Gln12072Ter
XM_024453097.1:c.33556C>T XP_024308865.1:p.Gln11186Ter
XM_024453098.1:c.33475C>T XP_024308866.1:p.Gln11159Ter
XM_024453099.1:c.15238C>T XP_024308867.1:p.Gln5080Ter
XM_024453100.1:c.5092C>T XP_024308868.1:p.Gln1698Ter