Canonical Allele Identifier: CA349672533

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179442808G>T (hg19) ; chr2:g.178578081G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578081G>T , CM000664.2:g.178578081G>T	GRCh38
NC_000002.11:g.179442808G>T , CM000664.1:g.179442808G>T	GRCh37
NC_000002.10:g.179151054G>T	NCBI36
NG_011618.3:g.257722C>A , LRG_391:g.257722C>A
NG_051363.1:g.60255G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.60730C>A (TTN)	ENSP00000343764.6:p.Leu20244Ile
ENST00000342175.11:c.41815C>A (TTN)	ENSP00000340554.6:p.Leu13939Ile
ENST00000359218.10:c.41614C>A (TTN)	ENSP00000352154.5:p.Leu13872Ile
ENST00000342175.10:c.41815C>A (TTN)	ENSP00000340554.6:p.Leu13939Ile
ENST00000342992.10:c.60730C>A (TTN)	ENSP00000343764.6:p.Leu20244Ile
ENST00000359218.9:c.41614C>A (TTN)	ENSP00000352154.5:p.Leu13872Ile
ENST00000460472.6:c.41239C>A (TTN)	ENSP00000434586.1:p.Leu13747Ile
ENST00000589042.5:c.68434C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu22812Ile
ENST00000591111.5:c.63511C>A (TTN)	ENSP00000465570.1:p.Leu21171Ile
ENST00000615779.4:c.63511C>A (TTN)	ENSP00000483597.1:p.Leu21171Ile
NM_001256850.1:c.63511C>A (TTN)	NP_001243779.1:p.Leu21171Ile
NM_001267550.2:c.68434C>A (TTN) MANE Select	NP_001254479.2:p.Leu22812Ile
NM_003319.4:c.41239C>A (TTN)	NP_003310.4:p.Leu13747Ile
NM_133378.4:c.60730C>A (TTN)	NP_596869.4:p.Leu20244Ile
NM_133432.3:c.41614C>A (TTN)	NP_597676.3:p.Leu13872Ile
NM_133437.4:c.41815C>A (TTN)	NP_597681.4:p.Leu13939Ile
NR_038271.1:n.596+6632G>T (TTN-AS1)
NR_038272.1:n.2044-4491G>T (TTN-AS1)
XM_011511729.1:c.67531C>A (TTN)	XP_011510031.1:p.Leu22511Ile
XM_011511730.1:c.41425C>A (TTN)	XP_011510032.1:p.Leu13809Ile
XM_011511731.1:c.41284C>A (TTN)	XP_011510033.1:p.Leu13762Ile
XM_017004819.1:c.67327C>A (TTN)	XP_016860308.1:p.Leu22443Ile
XM_017004820.1:c.62725C>A (TTN)	XP_016860309.1:p.Leu20909Ile
XM_017004821.1:c.62722C>A (TTN)	XP_016860310.1:p.Leu20908Ile
XM_017004822.1:c.59764C>A (TTN)	XP_016860311.1:p.Leu19922Ile
XM_017004823.1:c.41380C>A (TTN)	XP_016860312.1:p.Leu13794Ile
XM_024453094.1:c.62875C>A (TTN)	XP_024308862.1:p.Leu20959Ile
XM_024453095.1:c.62872C>A (TTN)	XP_024308863.1:p.Leu20958Ile
XM_024453096.1:c.62305C>A (TTN)	XP_024308864.1:p.Leu20769Ile
XM_024453097.1:c.59647C>A (TTN)	XP_024308865.1:p.Leu19883Ile
XM_024453098.1:c.59566C>A (TTN)	XP_024308866.1:p.Leu19856Ile
XM_024453099.1:c.41329C>A (TTN)	XP_024308867.1:p.Leu13777Ile
XM_024453100.1:c.31183C>A (TTN)	XP_024308868.1:p.Leu10395Ile