Canonical Allele Identifier: CA349655593
Community Standard Title: NM_001267550.2(TTN):c.42181A>T (p.Lys14061Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178634600T>A , CM000664.2:g.178634600T>A GRCh38
NC_000002.11:g.179499327T>A , CM000664.1:g.179499327T>A GRCh37
NC_000002.10:g.179207572T>A NCBI36
NG_011618.3:g.201203A>T , LRG_391:g.201203A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.42181A>T MANE Select NP_001254479.2:p.Lys14061Ter
ENST00000589042.5:c.42181A>T MANE Select ENSP00000467141.1:p.Lys14061Ter
NM_001256850.1:c.37258A>T NP_001243779.1:p.Lys12420Ter
NM_003319.4:c.14986A>T NP_003310.4:p.Lys4996Ter
NM_133378.4:c.34477A>T NP_596869.4:p.Lys11493Ter
NM_133432.3:c.15361A>T NP_597676.3:p.Lys5121Ter
NM_133437.4:c.15562A>T NP_597681.4:p.Lys5188Ter
ENST00000342175.10:c.15562A>T ENSP00000340554.6:p.Lys5188Ter
ENST00000342175.11:c.15562A>T ENSP00000340554.6:p.Lys5188Ter
ENST00000342992.10:c.34477A>T ENSP00000343764.6:p.Lys11493Ter
ENST00000342992.11:c.34477A>T ENSP00000343764.6:p.Lys11493Ter
ENST00000359218.10:c.15361A>T ENSP00000352154.5:p.Lys5121Ter
ENST00000359218.9:c.15361A>T ENSP00000352154.5:p.Lys5121Ter
ENST00000460472.6:c.14986A>T ENSP00000434586.1:p.Lys4996Ter
ENST00000591111.5:c.37258A>T ENSP00000465570.1:p.Lys12420Ter
ENST00000615779.4:c.37258A>T ENSP00000483597.1:p.Lys12420Ter
XM_011511729.1:c.41278A>T XP_011510031.1:p.Lys13760Ter
XM_011511730.1:c.15172A>T XP_011510032.1:p.Lys5058Ter
XM_011511731.1:c.15031A>T XP_011510033.1:p.Lys5011Ter
XM_017004819.1:c.41074A>T XP_016860308.1:p.Lys13692Ter
XM_017004820.1:c.36472A>T XP_016860309.1:p.Lys12158Ter
XM_017004821.1:c.36469A>T XP_016860310.1:p.Lys12157Ter
XM_017004822.1:c.33511A>T XP_016860311.1:p.Lys11171Ter
XM_017004823.1:c.15127A>T XP_016860312.1:p.Lys5043Ter
XM_024453094.1:c.36622A>T XP_024308862.1:p.Lys12208Ter
XM_024453095.1:c.36619A>T XP_024308863.1:p.Lys12207Ter
XM_024453096.1:c.36052A>T XP_024308864.1:p.Lys12018Ter
XM_024453097.1:c.33394A>T XP_024308865.1:p.Lys11132Ter
XM_024453098.1:c.33313A>T XP_024308866.1:p.Lys11105Ter
XM_024453099.1:c.15076A>T XP_024308867.1:p.Lys5026Ter
XM_024453100.1:c.4930A>T XP_024308868.1:p.Lys1644Ter