Canonical Allele Identifier: CA10587454

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 263942
• ClinVar RCV Id: RCV000253675
• dbSNP Id: rs886038985
• MyVariant Identifiers: chr2:g.179414515A>T (hg19) ; chr2:g.178549788A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549788A>T , CM000664.2:g.178549788A>T	GRCh38
NC_000002.11:g.179414515A>T , CM000664.1:g.179414515A>T	GRCh37
NC_000002.10:g.179122761A>T	NCBI36
NG_011618.3:g.286015T>A , LRG_391:g.286015T>A
NG_051363.1:g.31962A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84230T>A (TTN)	ENSP00000343764.6:p.Leu28077His
ENST00000342175.11:c.65315T>A (TTN)	ENSP00000340554.6:p.Leu21772His
ENST00000359218.10:c.65114T>A (TTN)	ENSP00000352154.5:p.Leu21705His
ENST00000342175.10:c.65315T>A (TTN)	ENSP00000340554.6:p.Leu21772His
ENST00000342992.10:c.84230T>A (TTN)	ENSP00000343764.6:p.Leu28077His
ENST00000359218.9:c.65114T>A (TTN)	ENSP00000352154.5:p.Leu21705His
ENST00000460472.6:c.64739T>A (TTN)	ENSP00000434586.1:p.Leu21580His
ENST00000589042.5:c.91934T>A (TTN) MANE Select	ENSP00000467141.1:p.Leu30645His
ENST00000591111.5:c.87011T>A (TTN)	ENSP00000465570.1:p.Leu29004His
ENST00000615779.4:c.87011T>A (TTN)	ENSP00000483597.1:p.Leu29004His
NM_001256850.1:c.87011T>A (TTN)	NP_001243779.1:p.Leu29004His
NM_001267550.2:c.91934T>A (TTN) MANE Select	NP_001254479.2:p.Leu30645His
NM_003319.4:c.64739T>A (TTN)	NP_003310.4:p.Leu21580His
NM_133378.4:c.84230T>A (TTN)	NP_596869.4:p.Leu28077His
NM_133432.3:c.65114T>A (TTN)	NP_597676.3:p.Leu21705His
NM_133437.4:c.65315T>A (TTN)	NP_597681.4:p.Leu21772His
NR_038271.1:n.447-21512A>T (TTN-AS1)
NR_038272.1:n.2043+7427A>T (TTN-AS1)
XM_011511729.1:c.91031T>A (TTN)	XP_011510031.1:p.Leu30344His
XM_011511730.1:c.64925T>A (TTN)	XP_011510032.1:p.Leu21642His
XM_011511731.1:c.64784T>A (TTN)	XP_011510033.1:p.Leu21595His
XM_017004819.1:c.90827T>A (TTN)	XP_016860308.1:p.Leu30276His
XM_017004820.1:c.86225T>A (TTN)	XP_016860309.1:p.Leu28742His
XM_017004821.1:c.86222T>A (TTN)	XP_016860310.1:p.Leu28741His
XM_017004822.1:c.83264T>A (TTN)	XP_016860311.1:p.Leu27755His
XM_017004823.1:c.64880T>A (TTN)	XP_016860312.1:p.Leu21627His
XM_024453094.1:c.86375T>A (TTN)	XP_024308862.1:p.Leu28792His
XM_024453095.1:c.86372T>A (TTN)	XP_024308863.1:p.Leu28791His
XM_024453096.1:c.85805T>A (TTN)	XP_024308864.1:p.Leu28602His
XM_024453097.1:c.83147T>A (TTN)	XP_024308865.1:p.Leu27716His
XM_024453098.1:c.83066T>A (TTN)	XP_024308866.1:p.Leu27689His
XM_024453099.1:c.64829T>A (TTN)	XP_024308867.1:p.Leu21610His
XM_024453100.1:c.54683T>A (TTN)	XP_024308868.1:p.Leu18228His