Canonical Allele Identifier: CA349660654

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636407C>T , CM000664.2:g.178636407C>T	GRCh38
NC_000002.11:g.179501134C>T , CM000664.1:g.179501134C>T	GRCh37
NC_000002.10:g.179209379C>T	NCBI36
NG_011618.3:g.199396G>A , LRG_391:g.199396G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.41320G>A MANE Select	NP_001254479.2:p.Val13774Ile
ENST00000589042.5:c.41320G>A MANE Select	ENSP00000467141.1:p.Val13774Ile
NM_001256850.1:c.36397G>A	NP_001243779.1:p.Val12133Ile
NM_003319.4:c.14125G>A	NP_003310.4:p.Val4709Ile
NM_133378.4:c.33616G>A	NP_596869.4:p.Val11206Ile
NM_133432.3:c.14500G>A	NP_597676.3:p.Val4834Ile
NM_133437.4:c.14701G>A	NP_597681.4:p.Val4901Ile
ENST00000342175.10:c.14701G>A	ENSP00000340554.6:p.Val4901Ile
ENST00000342175.11:c.14701G>A	ENSP00000340554.6:p.Val4901Ile
ENST00000342992.10:c.33616G>A	ENSP00000343764.6:p.Val11206Ile
ENST00000342992.11:c.33616G>A	ENSP00000343764.6:p.Val11206Ile
ENST00000359218.10:c.14500G>A	ENSP00000352154.5:p.Val4834Ile
ENST00000359218.9:c.14500G>A	ENSP00000352154.5:p.Val4834Ile
ENST00000460472.6:c.14125G>A	ENSP00000434586.1:p.Val4709Ile
ENST00000591111.5:c.36397G>A	ENSP00000465570.1:p.Val12133Ile
ENST00000615779.4:c.36397G>A	ENSP00000483597.1:p.Val12133Ile
XM_011511729.1:c.40417G>A	XP_011510031.1:p.Val13473Ile
XM_011511730.1:c.14311G>A	XP_011510032.1:p.Val4771Ile
XM_011511731.1:c.14170G>A	XP_011510033.1:p.Val4724Ile
XM_017004819.1:c.40213G>A	XP_016860308.1:p.Val13405Ile
XM_017004820.1:c.35611G>A	XP_016860309.1:p.Val11871Ile
XM_017004821.1:c.35608G>A	XP_016860310.1:p.Val11870Ile
XM_017004822.1:c.32650G>A	XP_016860311.1:p.Val10884Ile
XM_017004823.1:c.14266G>A	XP_016860312.1:p.Val4756Ile
XM_024453094.1:c.35761G>A	XP_024308862.1:p.Val11921Ile
XM_024453095.1:c.35758G>A	XP_024308863.1:p.Val11920Ile
XM_024453096.1:c.35191G>A	XP_024308864.1:p.Val11731Ile
XM_024453097.1:c.32533G>A	XP_024308865.1:p.Val10845Ile
XM_024453098.1:c.32452G>A	XP_024308866.1:p.Val10818Ile
XM_024453099.1:c.14215G>A	XP_024308867.1:p.Val4739Ile
XM_024453100.1:c.4069G>A	XP_024308868.1:p.Val1357Ile