Canonical Allele Identifier: CA349611939

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433659T>A (hg19) ; chr2:g.178568932T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568932T>A , CM000664.2:g.178568932T>A	GRCh38
NC_000002.11:g.179433659T>A , CM000664.1:g.179433659T>A	GRCh37
NC_000002.10:g.179141905T>A	NCBI36
NG_011618.3:g.266871A>T , LRG_391:g.266871A>T
NG_051363.1:g.51106T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69496A>T (TTN)	ENSP00000343764.6:p.Ile23166Phe
ENST00000342175.11:c.50581A>T (TTN)	ENSP00000340554.6:p.Ile16861Phe
ENST00000359218.10:c.50380A>T (TTN)	ENSP00000352154.5:p.Ile16794Phe
ENST00000342175.10:c.50581A>T (TTN)	ENSP00000340554.6:p.Ile16861Phe
ENST00000342992.10:c.69496A>T (TTN)	ENSP00000343764.6:p.Ile23166Phe
ENST00000359218.9:c.50380A>T (TTN)	ENSP00000352154.5:p.Ile16794Phe
ENST00000460472.6:c.50005A>T (TTN)	ENSP00000434586.1:p.Ile16669Phe
ENST00000589042.5:c.77200A>T (TTN) MANE Select	ENSP00000467141.1:p.Ile25734Phe
ENST00000591111.5:c.72277A>T (TTN)	ENSP00000465570.1:p.Ile24093Phe
ENST00000615779.4:c.72277A>T (TTN)	ENSP00000483597.1:p.Ile24093Phe
NM_001256850.1:c.72277A>T (TTN)	NP_001243779.1:p.Ile24093Phe
NM_001267550.2:c.77200A>T (TTN) MANE Select	NP_001254479.2:p.Ile25734Phe
NM_003319.4:c.50005A>T (TTN)	NP_003310.4:p.Ile16669Phe
NM_133378.4:c.69496A>T (TTN)	NP_596869.4:p.Ile23166Phe
NM_133432.3:c.50380A>T (TTN)	NP_597676.3:p.Ile16794Phe
NM_133437.4:c.50581A>T (TTN)	NP_597681.4:p.Ile16861Phe
NR_038271.1:n.447-2368T>A (TTN-AS1)
NR_038272.1:n.2044-13640T>A (TTN-AS1)
XM_011511729.1:c.76297A>T (TTN)	XP_011510031.1:p.Ile25433Phe
XM_011511730.1:c.50191A>T (TTN)	XP_011510032.1:p.Ile16731Phe
XM_011511731.1:c.50050A>T (TTN)	XP_011510033.1:p.Ile16684Phe
XM_017004819.1:c.76093A>T (TTN)	XP_016860308.1:p.Ile25365Phe
XM_017004820.1:c.71491A>T (TTN)	XP_016860309.1:p.Ile23831Phe
XM_017004821.1:c.71488A>T (TTN)	XP_016860310.1:p.Ile23830Phe
XM_017004822.1:c.68530A>T (TTN)	XP_016860311.1:p.Ile22844Phe
XM_017004823.1:c.50146A>T (TTN)	XP_016860312.1:p.Ile16716Phe
XM_024453094.1:c.71641A>T (TTN)	XP_024308862.1:p.Ile23881Phe
XM_024453095.1:c.71638A>T (TTN)	XP_024308863.1:p.Ile23880Phe
XM_024453096.1:c.71071A>T (TTN)	XP_024308864.1:p.Ile23691Phe
XM_024453097.1:c.68413A>T (TTN)	XP_024308865.1:p.Ile22805Phe
XM_024453098.1:c.68332A>T (TTN)	XP_024308866.1:p.Ile22778Phe
XM_024453099.1:c.50095A>T (TTN)	XP_024308867.1:p.Ile16699Phe
XM_024453100.1:c.39949A>T (TTN)	XP_024308868.1:p.Ile13317Phe