Canonical Allele Identifier: CA349572617

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178608282A>T , CM000664.2:g.178608282A>T	GRCh38
NC_000002.11:g.179473009A>T , CM000664.1:g.179473009A>T	GRCh37
NC_000002.10:g.179181254A>T	NCBI36
NG_011618.3:g.227521T>A , LRG_391:g.227521T>A
NG_051363.1:g.90456A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.52601T>A (TTN) MANE Select	NP_001254479.2:p.Leu17534Ter
ENST00000589042.5:c.52601T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu17534Ter
NM_001256850.1:c.47678T>A (TTN)	NP_001243779.1:p.Leu15893Ter
NM_003319.4:c.25406T>A (TTN)	NP_003310.4:p.Leu8469Ter
NM_133378.4:c.44897T>A (TTN)	NP_596869.4:p.Leu14966Ter
NM_133432.3:c.25781T>A (TTN)	NP_597676.3:p.Leu8594Ter
NM_133437.4:c.25982T>A (TTN)	NP_597681.4:p.Leu8661Ter
NR_038271.1:n.782+16A>T (TTN-AS1)
ENST00000342175.10:c.25982T>A (TTN)	ENSP00000340554.6:p.Leu8661Ter
ENST00000342175.11:c.25982T>A (TTN)	ENSP00000340554.6:p.Leu8661Ter
ENST00000342992.10:c.44897T>A (TTN)	ENSP00000343764.6:p.Leu14966Ter
ENST00000342992.11:c.44897T>A (TTN)	ENSP00000343764.6:p.Leu14966Ter
ENST00000359218.10:c.25781T>A (TTN)	ENSP00000352154.5:p.Leu8594Ter
ENST00000359218.9:c.25781T>A (TTN)	ENSP00000352154.5:p.Leu8594Ter
ENST00000460472.6:c.25406T>A (TTN)	ENSP00000434586.1:p.Leu8469Ter
ENST00000591111.5:c.47678T>A (TTN)	ENSP00000465570.1:p.Leu15893Ter
ENST00000615779.4:c.47678T>A (TTN)	ENSP00000483597.1:p.Leu15893Ter
XM_011511729.1:c.51698T>A (TTN)	XP_011510031.1:p.Leu17233Ter
XM_011511730.1:c.25592T>A (TTN)	XP_011510032.1:p.Leu8531Ter
XM_011511731.1:c.25451T>A (TTN)	XP_011510033.1:p.Leu8484Ter
XM_017004819.1:c.51494T>A (TTN)	XP_016860308.1:p.Leu17165Ter
XM_017004820.1:c.46892T>A (TTN)	XP_016860309.1:p.Leu15631Ter
XM_017004821.1:c.46889T>A (TTN)	XP_016860310.1:p.Leu15630Ter
XM_017004822.1:c.43931T>A (TTN)	XP_016860311.1:p.Leu14644Ter
XM_017004823.1:c.25547T>A (TTN)	XP_016860312.1:p.Leu8516Ter
XM_024453094.1:c.47042T>A (TTN)	XP_024308862.1:p.Leu15681Ter
XM_024453095.1:c.47039T>A (TTN)	XP_024308863.1:p.Leu15680Ter
XM_024453096.1:c.46472T>A (TTN)	XP_024308864.1:p.Leu15491Ter
XM_024453097.1:c.43814T>A (TTN)	XP_024308865.1:p.Leu14605Ter
XM_024453098.1:c.43733T>A (TTN)	XP_024308866.1:p.Leu14578Ter
XM_024453099.1:c.25496T>A (TTN)	XP_024308867.1:p.Leu8499Ter
XM_024453100.1:c.15350T>A (TTN)	XP_024308868.1:p.Leu5117Ter