Canonical Allele Identifier: CA349436121

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449414C>A (hg19) ; chr2:g.178584687C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584687C>A , CM000664.2:g.178584687C>A	GRCh38
NC_000002.11:g.179449414C>A , CM000664.1:g.179449414C>A	GRCh37
NC_000002.10:g.179157660C>A	NCBI36
NG_011618.3:g.251116G>T , LRG_391:g.251116G>T
NG_051363.1:g.66861C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57250G>T (TTN)	ENSP00000343764.6:p.Val19084Phe
ENST00000342175.11:c.38335G>T (TTN)	ENSP00000340554.6:p.Val12779Phe
ENST00000359218.10:c.38134G>T (TTN)	ENSP00000352154.5:p.Val12712Phe
ENST00000342175.10:c.38335G>T (TTN)	ENSP00000340554.6:p.Val12779Phe
ENST00000342992.10:c.57250G>T (TTN)	ENSP00000343764.6:p.Val19084Phe
ENST00000359218.9:c.38134G>T (TTN)	ENSP00000352154.5:p.Val12712Phe
ENST00000460472.6:c.37759G>T (TTN)	ENSP00000434586.1:p.Val12587Phe
ENST00000589042.5:c.64954G>T (TTN) MANE Select	ENSP00000467141.1:p.Val21652Phe
ENST00000591111.5:c.60031G>T (TTN)	ENSP00000465570.1:p.Val20011Phe
ENST00000615779.4:c.60031G>T (TTN)	ENSP00000483597.1:p.Val20011Phe
NM_001256850.1:c.60031G>T (TTN)	NP_001243779.1:p.Val20011Phe
NM_001267550.2:c.64954G>T (TTN) MANE Select	NP_001254479.2:p.Val21652Phe
NM_003319.4:c.37759G>T (TTN)	NP_003310.4:p.Val12587Phe
NM_133378.4:c.57250G>T (TTN)	NP_596869.4:p.Val19084Phe
NM_133432.3:c.38134G>T (TTN)	NP_597676.3:p.Val12712Phe
NM_133437.4:c.38335G>T (TTN)	NP_597681.4:p.Val12779Phe
NR_038271.1:n.597-12909C>A (TTN-AS1)
NR_038272.1:n.2882C>A (TTN-AS1)
XM_011511729.1:c.64051G>T (TTN)	XP_011510031.1:p.Val21351Phe
XM_011511730.1:c.37945G>T (TTN)	XP_011510032.1:p.Val12649Phe
XM_011511731.1:c.37804G>T (TTN)	XP_011510033.1:p.Val12602Phe
XM_017004819.1:c.63847G>T (TTN)	XP_016860308.1:p.Val21283Phe
XM_017004820.1:c.59245G>T (TTN)	XP_016860309.1:p.Val19749Phe
XM_017004821.1:c.59242G>T (TTN)	XP_016860310.1:p.Val19748Phe
XM_017004822.1:c.56284G>T (TTN)	XP_016860311.1:p.Val18762Phe
XM_017004823.1:c.37900G>T (TTN)	XP_016860312.1:p.Val12634Phe
XM_024453094.1:c.59395G>T (TTN)	XP_024308862.1:p.Val19799Phe
XM_024453095.1:c.59392G>T (TTN)	XP_024308863.1:p.Val19798Phe
XM_024453096.1:c.58825G>T (TTN)	XP_024308864.1:p.Val19609Phe
XM_024453097.1:c.56167G>T (TTN)	XP_024308865.1:p.Val18723Phe
XM_024453098.1:c.56086G>T (TTN)	XP_024308866.1:p.Val18696Phe
XM_024453099.1:c.37849G>T (TTN)	XP_024308867.1:p.Val12617Phe
XM_024453100.1:c.27703G>T (TTN)	XP_024308868.1:p.Val9235Phe