Canonical Allele Identifier: CA349621753

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435270C>G (hg19) ; chr2:g.178570543C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570543C>G , CM000664.2:g.178570543C>G	GRCh38
NC_000002.11:g.179435270C>G , CM000664.1:g.179435270C>G	GRCh37
NC_000002.10:g.179143516C>G	NCBI36
NG_011618.3:g.265260G>C , LRG_391:g.265260G>C
NG_051363.1:g.52717C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67885G>C (TTN)	ENSP00000343764.6:p.Val22629Leu
ENST00000342175.11:c.48970G>C (TTN)	ENSP00000340554.6:p.Val16324Leu
ENST00000359218.10:c.48769G>C (TTN)	ENSP00000352154.5:p.Val16257Leu
ENST00000342175.10:c.48970G>C (TTN)	ENSP00000340554.6:p.Val16324Leu
ENST00000342992.10:c.67885G>C (TTN)	ENSP00000343764.6:p.Val22629Leu
ENST00000359218.9:c.48769G>C (TTN)	ENSP00000352154.5:p.Val16257Leu
ENST00000460472.6:c.48394G>C (TTN)	ENSP00000434586.1:p.Val16132Leu
ENST00000589042.5:c.75589G>C (TTN) MANE Select	ENSP00000467141.1:p.Val25197Leu
ENST00000591111.5:c.70666G>C (TTN)	ENSP00000465570.1:p.Val23556Leu
ENST00000615779.4:c.70666G>C (TTN)	ENSP00000483597.1:p.Val23556Leu
NM_001256850.1:c.70666G>C (TTN)	NP_001243779.1:p.Val23556Leu
NM_001267550.2:c.75589G>C (TTN) MANE Select	NP_001254479.2:p.Val25197Leu
NM_003319.4:c.48394G>C (TTN)	NP_003310.4:p.Val16132Leu
NM_133378.4:c.67885G>C (TTN)	NP_596869.4:p.Val22629Leu
NM_133432.3:c.48769G>C (TTN)	NP_597676.3:p.Val16257Leu
NM_133437.4:c.48970G>C (TTN)	NP_597681.4:p.Val16324Leu
NR_038271.1:n.447-757C>G (TTN-AS1)
NR_038272.1:n.2044-12029C>G (TTN-AS1)
XM_011511729.1:c.74686G>C (TTN)	XP_011510031.1:p.Val24896Leu
XM_011511730.1:c.48580G>C (TTN)	XP_011510032.1:p.Val16194Leu
XM_011511731.1:c.48439G>C (TTN)	XP_011510033.1:p.Val16147Leu
XM_017004819.1:c.74482G>C (TTN)	XP_016860308.1:p.Val24828Leu
XM_017004820.1:c.69880G>C (TTN)	XP_016860309.1:p.Val23294Leu
XM_017004821.1:c.69877G>C (TTN)	XP_016860310.1:p.Val23293Leu
XM_017004822.1:c.66919G>C (TTN)	XP_016860311.1:p.Val22307Leu
XM_017004823.1:c.48535G>C (TTN)	XP_016860312.1:p.Val16179Leu
XM_024453094.1:c.70030G>C (TTN)	XP_024308862.1:p.Val23344Leu
XM_024453095.1:c.70027G>C (TTN)	XP_024308863.1:p.Val23343Leu
XM_024453096.1:c.69460G>C (TTN)	XP_024308864.1:p.Val23154Leu
XM_024453097.1:c.66802G>C (TTN)	XP_024308865.1:p.Val22268Leu
XM_024453098.1:c.66721G>C (TTN)	XP_024308866.1:p.Val22241Leu
XM_024453099.1:c.48484G>C (TTN)	XP_024308867.1:p.Val16162Leu
XM_024453100.1:c.38338G>C (TTN)	XP_024308868.1:p.Val12780Leu