Canonical Allele Identifier: CA283527

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591493C>T , CM000664.2:g.178591493C>T	GRCh38
NC_000002.11:g.179456220C>T , CM000664.1:g.179456220C>T	GRCh37
NC_000002.10:g.179164466C>T	NCBI36
NG_011618.3:g.244310G>A , LRG_391:g.244310G>A
NG_051363.1:g.73667C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.60232G>A (TTN) MANE Select	NP_001254479.2:p.Val20078Met
ENST00000589042.5:c.60232G>A (TTN) MANE Select	ENSP00000467141.1:p.Val20078Met
NM_001256850.1:c.55309G>A (TTN)	NP_001243779.1:p.Val18437Met
NM_003319.4:c.33037G>A (TTN)	NP_003310.4:p.Val11013Met
NM_133378.4:c.52528G>A (TTN)	NP_596869.4:p.Val17510Met
NM_133432.3:c.33412G>A (TTN)	NP_597676.3:p.Val11138Met
NM_133437.4:c.33613G>A (TTN)	NP_597681.4:p.Val11205Met
NR_038271.1:n.597-6103C>T (TTN-AS1)
NR_038272.1:n.3364+179C>T (TTN-AS1)
ENST00000342175.10:c.33613G>A (TTN)	ENSP00000340554.6:p.Val11205Met
ENST00000342175.11:c.33613G>A (TTN)	ENSP00000340554.6:p.Val11205Met
ENST00000342992.10:c.52528G>A (TTN)	ENSP00000343764.6:p.Val17510Met
ENST00000342992.11:c.52528G>A (TTN)	ENSP00000343764.6:p.Val17510Met
ENST00000359218.10:c.33412G>A (TTN)	ENSP00000352154.5:p.Val11138Met
ENST00000359218.9:c.33412G>A (TTN)	ENSP00000352154.5:p.Val11138Met
ENST00000460472.6:c.33037G>A (TTN)	ENSP00000434586.1:p.Val11013Met
ENST00000591111.5:c.55309G>A (TTN)	ENSP00000465570.1:p.Val18437Met
ENST00000615779.4:c.55309G>A (TTN)	ENSP00000483597.1:p.Val18437Met
XM_011511729.1:c.59329G>A (TTN)	XP_011510031.1:p.Val19777Met
XM_011511730.1:c.33223G>A (TTN)	XP_011510032.1:p.Val11075Met
XM_011511731.1:c.33082G>A (TTN)	XP_011510033.1:p.Val11028Met
XM_017004819.1:c.59125G>A (TTN)	XP_016860308.1:p.Val19709Met
XM_017004820.1:c.54523G>A (TTN)	XP_016860309.1:p.Val18175Met
XM_017004821.1:c.54520G>A (TTN)	XP_016860310.1:p.Val18174Met
XM_017004822.1:c.51562G>A (TTN)	XP_016860311.1:p.Val17188Met
XM_017004823.1:c.33178G>A (TTN)	XP_016860312.1:p.Val11060Met
XM_024453094.1:c.54673G>A (TTN)	XP_024308862.1:p.Val18225Met
XM_024453095.1:c.54670G>A (TTN)	XP_024308863.1:p.Val18224Met
XM_024453096.1:c.54103G>A (TTN)	XP_024308864.1:p.Val18035Met
XM_024453097.1:c.51445G>A (TTN)	XP_024308865.1:p.Val17149Met
XM_024453098.1:c.51364G>A (TTN)	XP_024308866.1:p.Val17122Met
XM_024453099.1:c.33127G>A (TTN)	XP_024308867.1:p.Val11043Met
XM_024453100.1:c.22981G>A (TTN)	XP_024308868.1:p.Val7661Met