Canonical Allele Identifier: CA349581101

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179429233T>A (hg19) ; chr2:g.178564506T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564506T>A , CM000664.2:g.178564506T>A	GRCh38
NC_000002.11:g.179429233T>A , CM000664.1:g.179429233T>A	GRCh37
NC_000002.10:g.179137479T>A	NCBI36
NG_011618.3:g.271297A>T , LRG_391:g.271297A>T
NG_051363.1:g.46680T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73922A>T (TTN)	ENSP00000343764.6:p.Lys24641Met
ENST00000342175.11:c.55007A>T (TTN)	ENSP00000340554.6:p.Lys18336Met
ENST00000359218.10:c.54806A>T (TTN)	ENSP00000352154.5:p.Lys18269Met
ENST00000342175.10:c.55007A>T (TTN)	ENSP00000340554.6:p.Lys18336Met
ENST00000342992.10:c.73922A>T (TTN)	ENSP00000343764.6:p.Lys24641Met
ENST00000359218.9:c.54806A>T (TTN)	ENSP00000352154.5:p.Lys18269Met
ENST00000460472.6:c.54431A>T (TTN)	ENSP00000434586.1:p.Lys18144Met
ENST00000589042.5:c.81626A>T (TTN) MANE Select	ENSP00000467141.1:p.Lys27209Met
ENST00000591111.5:c.76703A>T (TTN)	ENSP00000465570.1:p.Lys25568Met
ENST00000615779.4:c.76703A>T (TTN)	ENSP00000483597.1:p.Lys25568Met
NM_001256850.1:c.76703A>T (TTN)	NP_001243779.1:p.Lys25568Met
NM_001267550.2:c.81626A>T (TTN) MANE Select	NP_001254479.2:p.Lys27209Met
NM_003319.4:c.54431A>T (TTN)	NP_003310.4:p.Lys18144Met
NM_133378.4:c.73922A>T (TTN)	NP_596869.4:p.Lys24641Met
NM_133432.3:c.54806A>T (TTN)	NP_597676.3:p.Lys18269Met
NM_133437.4:c.55007A>T (TTN)	NP_597681.4:p.Lys18336Met
NR_038271.1:n.447-6794T>A (TTN-AS1)
NR_038272.1:n.2044-18066T>A (TTN-AS1)
XM_011511729.1:c.80723A>T (TTN)	XP_011510031.1:p.Lys26908Met
XM_011511730.1:c.54617A>T (TTN)	XP_011510032.1:p.Lys18206Met
XM_011511731.1:c.54476A>T (TTN)	XP_011510033.1:p.Lys18159Met
XM_017004819.1:c.80519A>T (TTN)	XP_016860308.1:p.Lys26840Met
XM_017004820.1:c.75917A>T (TTN)	XP_016860309.1:p.Lys25306Met
XM_017004821.1:c.75914A>T (TTN)	XP_016860310.1:p.Lys25305Met
XM_017004822.1:c.72956A>T (TTN)	XP_016860311.1:p.Lys24319Met
XM_017004823.1:c.54572A>T (TTN)	XP_016860312.1:p.Lys18191Met
XM_024453094.1:c.76067A>T (TTN)	XP_024308862.1:p.Lys25356Met
XM_024453095.1:c.76064A>T (TTN)	XP_024308863.1:p.Lys25355Met
XM_024453096.1:c.75497A>T (TTN)	XP_024308864.1:p.Lys25166Met
XM_024453097.1:c.72839A>T (TTN)	XP_024308865.1:p.Lys24280Met
XM_024453098.1:c.72758A>T (TTN)	XP_024308866.1:p.Lys24253Met
XM_024453099.1:c.54521A>T (TTN)	XP_024308867.1:p.Lys18174Met
XM_024453100.1:c.44375A>T (TTN)	XP_024308868.1:p.Lys14792Met