Canonical Allele Identifier: CA349480112

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455746G>T (hg19) ; chr2:g.178591019G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591019G>T , CM000664.2:g.178591019G>T	GRCh38
NC_000002.11:g.179455746G>T , CM000664.1:g.179455746G>T	GRCh37
NC_000002.10:g.179163992G>T	NCBI36
NG_011618.3:g.244784C>A , LRG_391:g.244784C>A
NG_051363.1:g.73193G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53002C>A (TTN)	ENSP00000343764.6:p.Leu17668Met
ENST00000342175.11:c.34087C>A (TTN)	ENSP00000340554.6:p.Leu11363Met
ENST00000359218.10:c.33886C>A (TTN)	ENSP00000352154.5:p.Leu11296Met
ENST00000342175.10:c.34087C>A (TTN)	ENSP00000340554.6:p.Leu11363Met
ENST00000342992.10:c.53002C>A (TTN)	ENSP00000343764.6:p.Leu17668Met
ENST00000359218.9:c.33886C>A (TTN)	ENSP00000352154.5:p.Leu11296Met
ENST00000460472.6:c.33511C>A (TTN)	ENSP00000434586.1:p.Leu11171Met
ENST00000589042.5:c.60706C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu20236Met
ENST00000591111.5:c.55783C>A (TTN)	ENSP00000465570.1:p.Leu18595Met
ENST00000615779.4:c.55783C>A (TTN)	ENSP00000483597.1:p.Leu18595Met
NM_001256850.1:c.55783C>A (TTN)	NP_001243779.1:p.Leu18595Met
NM_001267550.2:c.60706C>A (TTN) MANE Select	NP_001254479.2:p.Leu20236Met
NM_003319.4:c.33511C>A (TTN)	NP_003310.4:p.Leu11171Met
NM_133378.4:c.53002C>A (TTN)	NP_596869.4:p.Leu17668Met
NM_133432.3:c.33886C>A (TTN)	NP_597676.3:p.Leu11296Met
NM_133437.4:c.34087C>A (TTN)	NP_597681.4:p.Leu11363Met
NR_038271.1:n.597-6577G>T (TTN-AS1)
NR_038272.1:n.3189-120G>T (TTN-AS1)
XM_011511729.1:c.59803C>A (TTN)	XP_011510031.1:p.Leu19935Met
XM_011511730.1:c.33697C>A (TTN)	XP_011510032.1:p.Leu11233Met
XM_011511731.1:c.33556C>A (TTN)	XP_011510033.1:p.Leu11186Met
XM_017004819.1:c.59599C>A (TTN)	XP_016860308.1:p.Leu19867Met
XM_017004820.1:c.54997C>A (TTN)	XP_016860309.1:p.Leu18333Met
XM_017004821.1:c.54994C>A (TTN)	XP_016860310.1:p.Leu18332Met
XM_017004822.1:c.52036C>A (TTN)	XP_016860311.1:p.Leu17346Met
XM_017004823.1:c.33652C>A (TTN)	XP_016860312.1:p.Leu11218Met
XM_024453094.1:c.55147C>A (TTN)	XP_024308862.1:p.Leu18383Met
XM_024453095.1:c.55144C>A (TTN)	XP_024308863.1:p.Leu18382Met
XM_024453096.1:c.54577C>A (TTN)	XP_024308864.1:p.Leu18193Met
XM_024453097.1:c.51919C>A (TTN)	XP_024308865.1:p.Leu17307Met
XM_024453098.1:c.51838C>A (TTN)	XP_024308866.1:p.Leu17280Met
XM_024453099.1:c.33601C>A (TTN)	XP_024308867.1:p.Leu11201Met
XM_024453100.1:c.23455C>A (TTN)	XP_024308868.1:p.Leu7819Met