Canonical Allele Identifier: CA430257437

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 2940988
• ClinVar RCV Id: RCV003792250
• COSMIC: COSM4930109 ; COSM4930110 ; COSM4930111 ; COSM4930112
• MyVariant Identifiers: chr2:g.179438598C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178573871C>T , CM000664.2:g.178573871C>T	GRCh38
NC_000002.11:g.179438598C>T , CM000664.1:g.179438598C>T	GRCh37
NC_000002.10:g.179146844C>T	NCBI36
NG_011618.3:g.261932G>A , LRG_391:g.261932G>A
NG_051363.1:g.56045C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.64557G>A (TTN)	ENSP00000343764.6:p.Leu21519=
ENST00000342175.11:c.45642G>A (TTN)	ENSP00000340554.6:p.Leu15214=
ENST00000359218.10:c.45441G>A (TTN)	ENSP00000352154.5:p.Leu15147=
ENST00000342175.10:c.45642G>A (TTN)	ENSP00000340554.6:p.Leu15214=
ENST00000342992.10:c.64557G>A (TTN)	ENSP00000343764.6:p.Leu21519=
ENST00000359218.9:c.45441G>A (TTN)	ENSP00000352154.5:p.Leu15147=
ENST00000460472.6:c.45066G>A (TTN)	ENSP00000434586.1:p.Leu15022=
ENST00000589042.5:c.72261G>A (TTN) MANE Select	ENSP00000467141.1:p.Leu24087=
ENST00000591111.5:c.67338G>A (TTN)	ENSP00000465570.1:p.Leu22446=
ENST00000615779.4:c.67338G>A (TTN)	ENSP00000483597.1:p.Leu22446=
NM_001256850.1:c.67338G>A (TTN)	NP_001243779.1:p.Leu22446=
NM_001267550.2:c.72261G>A (TTN) MANE Select	NP_001254479.2:p.Leu24087=
NM_003319.4:c.45066G>A (TTN)	NP_003310.4:p.Leu15022=
NM_133378.4:c.64557G>A (TTN)	NP_596869.4:p.Leu21519=
NM_133432.3:c.45441G>A (TTN)	NP_597676.3:p.Leu15147=
NM_133437.4:c.45642G>A (TTN)	NP_597681.4:p.Leu15214=
NR_038271.1:n.596+2422C>T (TTN-AS1)
NR_038272.1:n.2044-8701C>T (TTN-AS1)
XM_011511729.1:c.71358G>A (TTN)	XP_011510031.1:p.Leu23786=
XM_011511730.1:c.45252G>A (TTN)	XP_011510032.1:p.Leu15084=
XM_011511731.1:c.45111G>A (TTN)	XP_011510033.1:p.Leu15037=
XM_017004819.1:c.71154G>A (TTN)	XP_016860308.1:p.Leu23718=
XM_017004820.1:c.66552G>A (TTN)	XP_016860309.1:p.Leu22184=
XM_017004821.1:c.66549G>A (TTN)	XP_016860310.1:p.Leu22183=
XM_017004822.1:c.63591G>A (TTN)	XP_016860311.1:p.Leu21197=
XM_017004823.1:c.45207G>A (TTN)	XP_016860312.1:p.Leu15069=
XM_024453094.1:c.66702G>A (TTN)	XP_024308862.1:p.Leu22234=
XM_024453095.1:c.66699G>A (TTN)	XP_024308863.1:p.Leu22233=
XM_024453096.1:c.66132G>A (TTN)	XP_024308864.1:p.Leu22044=
XM_024453097.1:c.63474G>A (TTN)	XP_024308865.1:p.Leu21158=
XM_024453098.1:c.63393G>A (TTN)	XP_024308866.1:p.Leu21131=
XM_024453099.1:c.45156G>A (TTN)	XP_024308867.1:p.Leu15052=
XM_024453100.1:c.35010G>A (TTN)	XP_024308868.1:p.Leu11670=