Canonical Allele Identifier: CA349423322

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179444290A>G (hg19) ; chr2:g.178579563A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579563A>G , CM000664.2:g.178579563A>G	GRCh38
NC_000002.11:g.179444290A>G , CM000664.1:g.179444290A>G	GRCh37
NC_000002.10:g.179152536A>G	NCBI36
NG_011618.3:g.256240T>C , LRG_391:g.256240T>C
NG_051363.1:g.61737A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.59930T>C (TTN)	ENSP00000343764.6:p.Val19977Ala
ENST00000342175.11:c.41015T>C (TTN)	ENSP00000340554.6:p.Val13672Ala
ENST00000359218.10:c.40814T>C (TTN)	ENSP00000352154.5:p.Val13605Ala
ENST00000342175.10:c.41015T>C (TTN)	ENSP00000340554.6:p.Val13672Ala
ENST00000342992.10:c.59930T>C (TTN)	ENSP00000343764.6:p.Val19977Ala
ENST00000359218.9:c.40814T>C (TTN)	ENSP00000352154.5:p.Val13605Ala
ENST00000460472.6:c.40439T>C (TTN)	ENSP00000434586.1:p.Val13480Ala
ENST00000589042.5:c.67634T>C (TTN) MANE Select	ENSP00000467141.1:p.Val22545Ala
ENST00000591111.5:c.62711T>C (TTN)	ENSP00000465570.1:p.Val20904Ala
ENST00000615779.4:c.62711T>C (TTN)	ENSP00000483597.1:p.Val20904Ala
NM_001256850.1:c.62711T>C (TTN)	NP_001243779.1:p.Val20904Ala
NM_001267550.2:c.67634T>C (TTN) MANE Select	NP_001254479.2:p.Val22545Ala
NM_003319.4:c.40439T>C (TTN)	NP_003310.4:p.Val13480Ala
NM_133378.4:c.59930T>C (TTN)	NP_596869.4:p.Val19977Ala
NM_133432.3:c.40814T>C (TTN)	NP_597676.3:p.Val13605Ala
NM_133437.4:c.41015T>C (TTN)	NP_597681.4:p.Val13672Ala
NR_038271.1:n.596+8114A>G (TTN-AS1)
NR_038272.1:n.2044-3009A>G (TTN-AS1)
XM_011511729.1:c.66731T>C (TTN)	XP_011510031.1:p.Val22244Ala
XM_011511730.1:c.40625T>C (TTN)	XP_011510032.1:p.Val13542Ala
XM_011511731.1:c.40484T>C (TTN)	XP_011510033.1:p.Val13495Ala
XM_017004819.1:c.66527T>C (TTN)	XP_016860308.1:p.Val22176Ala
XM_017004820.1:c.61925T>C (TTN)	XP_016860309.1:p.Val20642Ala
XM_017004821.1:c.61922T>C (TTN)	XP_016860310.1:p.Val20641Ala
XM_017004822.1:c.58964T>C (TTN)	XP_016860311.1:p.Val19655Ala
XM_017004823.1:c.40580T>C (TTN)	XP_016860312.1:p.Val13527Ala
XM_024453094.1:c.62075T>C (TTN)	XP_024308862.1:p.Val20692Ala
XM_024453095.1:c.62072T>C (TTN)	XP_024308863.1:p.Val20691Ala
XM_024453096.1:c.61505T>C (TTN)	XP_024308864.1:p.Val20502Ala
XM_024453097.1:c.58847T>C (TTN)	XP_024308865.1:p.Val19616Ala
XM_024453098.1:c.58766T>C (TTN)	XP_024308866.1:p.Val19589Ala
XM_024453099.1:c.40529T>C (TTN)	XP_024308867.1:p.Val13510Ala
XM_024453100.1:c.30383T>C (TTN)	XP_024308868.1:p.Val10128Ala