Canonical Allele Identifier: CA349648572

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179438761A>G (hg19) ; chr2:g.178574034A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574034A>G , CM000664.2:g.178574034A>G	GRCh38
NC_000002.11:g.179438761A>G , CM000664.1:g.179438761A>G	GRCh37
NC_000002.10:g.179147007A>G	NCBI36
NG_011618.3:g.261769T>C , LRG_391:g.261769T>C
NG_051363.1:g.56208A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64394T>C (TTN)	ENSP00000343764.6:p.Val21465Ala
ENST00000342175.11:c.45479T>C (TTN)	ENSP00000340554.6:p.Val15160Ala
ENST00000359218.10:c.45278T>C (TTN)	ENSP00000352154.5:p.Val15093Ala
ENST00000342175.10:c.45479T>C (TTN)	ENSP00000340554.6:p.Val15160Ala
ENST00000342992.10:c.64394T>C (TTN)	ENSP00000343764.6:p.Val21465Ala
ENST00000359218.9:c.45278T>C (TTN)	ENSP00000352154.5:p.Val15093Ala
ENST00000460472.6:c.44903T>C (TTN)	ENSP00000434586.1:p.Val14968Ala
ENST00000589042.5:c.72098T>C (TTN) MANE Select	ENSP00000467141.1:p.Val24033Ala
ENST00000591111.5:c.67175T>C (TTN)	ENSP00000465570.1:p.Val22392Ala
ENST00000615779.4:c.67175T>C (TTN)	ENSP00000483597.1:p.Val22392Ala
NM_001256850.1:c.67175T>C (TTN)	NP_001243779.1:p.Val22392Ala
NM_001267550.2:c.72098T>C (TTN) MANE Select	NP_001254479.2:p.Val24033Ala
NM_003319.4:c.44903T>C (TTN)	NP_003310.4:p.Val14968Ala
NM_133378.4:c.64394T>C (TTN)	NP_596869.4:p.Val21465Ala
NM_133432.3:c.45278T>C (TTN)	NP_597676.3:p.Val15093Ala
NM_133437.4:c.45479T>C (TTN)	NP_597681.4:p.Val15160Ala
NR_038271.1:n.596+2585A>G (TTN-AS1)
NR_038272.1:n.2044-8538A>G (TTN-AS1)
XM_011511729.1:c.71195T>C (TTN)	XP_011510031.1:p.Val23732Ala
XM_011511730.1:c.45089T>C (TTN)	XP_011510032.1:p.Val15030Ala
XM_011511731.1:c.44948T>C (TTN)	XP_011510033.1:p.Val14983Ala
XM_017004819.1:c.70991T>C (TTN)	XP_016860308.1:p.Val23664Ala
XM_017004820.1:c.66389T>C (TTN)	XP_016860309.1:p.Val22130Ala
XM_017004821.1:c.66386T>C (TTN)	XP_016860310.1:p.Val22129Ala
XM_017004822.1:c.63428T>C (TTN)	XP_016860311.1:p.Val21143Ala
XM_017004823.1:c.45044T>C (TTN)	XP_016860312.1:p.Val15015Ala
XM_024453094.1:c.66539T>C (TTN)	XP_024308862.1:p.Val22180Ala
XM_024453095.1:c.66536T>C (TTN)	XP_024308863.1:p.Val22179Ala
XM_024453096.1:c.65969T>C (TTN)	XP_024308864.1:p.Val21990Ala
XM_024453097.1:c.63311T>C (TTN)	XP_024308865.1:p.Val21104Ala
XM_024453098.1:c.63230T>C (TTN)	XP_024308866.1:p.Val21077Ala
XM_024453099.1:c.44993T>C (TTN)	XP_024308867.1:p.Val14998Ala
XM_024453100.1:c.34847T>C (TTN)	XP_024308868.1:p.Val11616Ala