Canonical Allele Identifier: CA349655497
Community Standard Title: NM_001267550.2(TTN):c.42208C>T (p.Gln14070Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178634573G>A , CM000664.2:g.178634573G>A GRCh38
NC_000002.11:g.179499300G>A , CM000664.1:g.179499300G>A GRCh37
NC_000002.10:g.179207545G>A NCBI36
NG_011618.3:g.201230C>T , LRG_391:g.201230C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42208C>T MANE Select NP_001254479.2:p.Gln14070Ter
ENST00000589042.5:c.42208C>T MANE Select ENSP00000467141.1:p.Gln14070Ter
NM_001256850.1:c.37285C>T NP_001243779.1:p.Gln12429Ter
NM_003319.4:c.15013C>T NP_003310.4:p.Gln5005Ter
NM_133378.4:c.34504C>T NP_596869.4:p.Gln11502Ter
NM_133432.3:c.15388C>T NP_597676.3:p.Gln5130Ter
NM_133437.4:c.15589C>T NP_597681.4:p.Gln5197Ter
ENST00000342175.10:c.15589C>T ENSP00000340554.6:p.Gln5197Ter
ENST00000342175.11:c.15589C>T ENSP00000340554.6:p.Gln5197Ter
ENST00000342992.10:c.34504C>T ENSP00000343764.6:p.Gln11502Ter
ENST00000342992.11:c.34504C>T ENSP00000343764.6:p.Gln11502Ter
ENST00000359218.10:c.15388C>T ENSP00000352154.5:p.Gln5130Ter
ENST00000359218.9:c.15388C>T ENSP00000352154.5:p.Gln5130Ter
ENST00000460472.6:c.15013C>T ENSP00000434586.1:p.Gln5005Ter
ENST00000591111.5:c.37285C>T ENSP00000465570.1:p.Gln12429Ter
ENST00000615779.4:c.37285C>T ENSP00000483597.1:p.Gln12429Ter
XM_011511729.1:c.41305C>T XP_011510031.1:p.Gln13769Ter
XM_011511730.1:c.15199C>T XP_011510032.1:p.Gln5067Ter
XM_011511731.1:c.15058C>T XP_011510033.1:p.Gln5020Ter
XM_017004819.1:c.41101C>T XP_016860308.1:p.Gln13701Ter
XM_017004820.1:c.36499C>T XP_016860309.1:p.Gln12167Ter
XM_017004821.1:c.36496C>T XP_016860310.1:p.Gln12166Ter
XM_017004822.1:c.33538C>T XP_016860311.1:p.Gln11180Ter
XM_017004823.1:c.15154C>T XP_016860312.1:p.Gln5052Ter
XM_024453094.1:c.36649C>T XP_024308862.1:p.Gln12217Ter
XM_024453095.1:c.36646C>T XP_024308863.1:p.Gln12216Ter
XM_024453096.1:c.36079C>T XP_024308864.1:p.Gln12027Ter
XM_024453097.1:c.33421C>T XP_024308865.1:p.Gln11141Ter
XM_024453098.1:c.33340C>T XP_024308866.1:p.Gln11114Ter
XM_024453099.1:c.15103C>T XP_024308867.1:p.Gln5035Ter
XM_024453100.1:c.4957C>T XP_024308868.1:p.Gln1653Ter