Canonical Allele Identifier: CA349657898

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179439530A>T (hg19) ; chr2:g.178574803A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574803A>T , CM000664.2:g.178574803A>T	GRCh38
NC_000002.11:g.179439530A>T , CM000664.1:g.179439530A>T	GRCh37
NC_000002.10:g.179147776A>T	NCBI36
NG_011618.3:g.261000T>A , LRG_391:g.261000T>A
NG_051363.1:g.56977A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63625T>A (TTN)	ENSP00000343764.6:p.Leu21209Ile
ENST00000342175.11:c.44710T>A (TTN)	ENSP00000340554.6:p.Leu14904Ile
ENST00000359218.10:c.44509T>A (TTN)	ENSP00000352154.5:p.Leu14837Ile
ENST00000342175.10:c.44710T>A (TTN)	ENSP00000340554.6:p.Leu14904Ile
ENST00000342992.10:c.63625T>A (TTN)	ENSP00000343764.6:p.Leu21209Ile
ENST00000359218.9:c.44509T>A (TTN)	ENSP00000352154.5:p.Leu14837Ile
ENST00000460472.6:c.44134T>A (TTN)	ENSP00000434586.1:p.Leu14712Ile
ENST00000589042.5:c.71329T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu23777Ile
ENST00000591111.5:c.66406T>A (TTN)	ENSP00000465570.1:p.Leu22136Ile
ENST00000615779.4:c.66406T>A (TTN)	ENSP00000483597.1:p.Leu22136Ile
NM_001256850.1:c.66406T>A (TTN)	NP_001243779.1:p.Leu22136Ile
NM_001267550.2:c.71329T>A (TTN) MANE Select	NP_001254479.2:p.Leu23777Ile
NM_003319.4:c.44134T>A (TTN)	NP_003310.4:p.Leu14712Ile
NM_133378.4:c.63625T>A (TTN)	NP_596869.4:p.Leu21209Ile
NM_133432.3:c.44509T>A (TTN)	NP_597676.3:p.Leu14837Ile
NM_133437.4:c.44710T>A (TTN)	NP_597681.4:p.Leu14904Ile
NR_038271.1:n.596+3354A>T (TTN-AS1)
NR_038272.1:n.2044-7769A>T (TTN-AS1)
XM_011511729.1:c.70426T>A (TTN)	XP_011510031.1:p.Leu23476Ile
XM_011511730.1:c.44320T>A (TTN)	XP_011510032.1:p.Leu14774Ile
XM_011511731.1:c.44179T>A (TTN)	XP_011510033.1:p.Leu14727Ile
XM_017004819.1:c.70222T>A (TTN)	XP_016860308.1:p.Leu23408Ile
XM_017004820.1:c.65620T>A (TTN)	XP_016860309.1:p.Leu21874Ile
XM_017004821.1:c.65617T>A (TTN)	XP_016860310.1:p.Leu21873Ile
XM_017004822.1:c.62659T>A (TTN)	XP_016860311.1:p.Leu20887Ile
XM_017004823.1:c.44275T>A (TTN)	XP_016860312.1:p.Leu14759Ile
XM_024453094.1:c.65770T>A (TTN)	XP_024308862.1:p.Leu21924Ile
XM_024453095.1:c.65767T>A (TTN)	XP_024308863.1:p.Leu21923Ile
XM_024453096.1:c.65200T>A (TTN)	XP_024308864.1:p.Leu21734Ile
XM_024453097.1:c.62542T>A (TTN)	XP_024308865.1:p.Leu20848Ile
XM_024453098.1:c.62461T>A (TTN)	XP_024308866.1:p.Leu20821Ile
XM_024453099.1:c.44224T>A (TTN)	XP_024308867.1:p.Leu14742Ile
XM_024453100.1:c.34078T>A (TTN)	XP_024308868.1:p.Leu11360Ile