Canonical Allele Identifier: CA1990761

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178575553C>T , CM000664.2:g.178575553C>T	GRCh38
NC_000002.11:g.179440280C>T , CM000664.1:g.179440280C>T	GRCh37
NC_000002.10:g.179148526C>T	NCBI36
NG_011618.3:g.260250G>A , LRG_391:g.260250G>A
NG_051363.1:g.57727C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.70579G>A (TTN) MANE Select	NP_001254479.2:p.Val23527Ile
ENST00000589042.5:c.70579G>A (TTN) MANE Select	ENSP00000467141.1:p.Val23527Ile
NM_001256850.1:c.65656G>A (TTN)	NP_001243779.1:p.Val21886Ile
NM_003319.4:c.43384G>A (TTN)	NP_003310.4:p.Val14462Ile
NM_133378.4:c.62875G>A (TTN)	NP_596869.4:p.Val20959Ile
NM_133432.3:c.43759G>A (TTN)	NP_597676.3:p.Val14587Ile
NM_133437.4:c.43960G>A (TTN)	NP_597681.4:p.Val14654Ile
NR_038271.1:n.596+4104C>T (TTN-AS1)
NR_038272.1:n.2044-7019C>T (TTN-AS1)
ENST00000342175.10:c.43960G>A (TTN)	ENSP00000340554.6:p.Val14654Ile
ENST00000342175.11:c.43960G>A (TTN)	ENSP00000340554.6:p.Val14654Ile
ENST00000342992.10:c.62875G>A (TTN)	ENSP00000343764.6:p.Val20959Ile
ENST00000342992.11:c.62875G>A (TTN)	ENSP00000343764.6:p.Val20959Ile
ENST00000359218.10:c.43759G>A (TTN)	ENSP00000352154.5:p.Val14587Ile
ENST00000359218.9:c.43759G>A (TTN)	ENSP00000352154.5:p.Val14587Ile
ENST00000460472.6:c.43384G>A (TTN)	ENSP00000434586.1:p.Val14462Ile
ENST00000591111.5:c.65656G>A (TTN)	ENSP00000465570.1:p.Val21886Ile
ENST00000615779.4:c.65656G>A (TTN)	ENSP00000483597.1:p.Val21886Ile
XM_011511729.1:c.69676G>A (TTN)	XP_011510031.1:p.Val23226Ile
XM_011511730.1:c.43570G>A (TTN)	XP_011510032.1:p.Val14524Ile
XM_011511731.1:c.43429G>A (TTN)	XP_011510033.1:p.Val14477Ile
XM_017004819.1:c.69472G>A (TTN)	XP_016860308.1:p.Val23158Ile
XM_017004820.1:c.64870G>A (TTN)	XP_016860309.1:p.Val21624Ile
XM_017004821.1:c.64867G>A (TTN)	XP_016860310.1:p.Val21623Ile
XM_017004822.1:c.61909G>A (TTN)	XP_016860311.1:p.Val20637Ile
XM_017004823.1:c.43525G>A (TTN)	XP_016860312.1:p.Val14509Ile
XM_024453094.1:c.65020G>A (TTN)	XP_024308862.1:p.Val21674Ile
XM_024453095.1:c.65017G>A (TTN)	XP_024308863.1:p.Val21673Ile
XM_024453096.1:c.64450G>A (TTN)	XP_024308864.1:p.Val21484Ile
XM_024453097.1:c.61792G>A (TTN)	XP_024308865.1:p.Val20598Ile
XM_024453098.1:c.61711G>A (TTN)	XP_024308866.1:p.Val20571Ile
XM_024453099.1:c.43474G>A (TTN)	XP_024308867.1:p.Val14492Ile
XM_024453100.1:c.33328G>A (TTN)	XP_024308868.1:p.Val11110Ile