Canonical Allele Identifier: CA349646351

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495656G>T (hg19) ; chr2:g.178630929G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630929G>T , CM000664.2:g.178630929G>T	GRCh38
NC_000002.11:g.179495656G>T , CM000664.1:g.179495656G>T	GRCh37
NC_000002.10:g.179203901G>T	NCBI36
NG_011618.3:g.204874C>A , LRG_391:g.204874C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36325C>A	ENSP00000343764.6:p.Leu12109Met
ENST00000342175.11:c.17410C>A	ENSP00000340554.6:p.Leu5804Met
ENST00000359218.10:c.17209C>A	ENSP00000352154.5:p.Leu5737Met
ENST00000342175.10:c.17410C>A	ENSP00000340554.6:p.Leu5804Met
ENST00000342992.10:c.36325C>A	ENSP00000343764.6:p.Leu12109Met
ENST00000359218.9:c.17209C>A	ENSP00000352154.5:p.Leu5737Met
ENST00000460472.6:c.16834C>A	ENSP00000434586.1:p.Leu5612Met
ENST00000589042.5:c.44029C>A MANE Select	ENSP00000467141.1:p.Leu14677Met
ENST00000591111.5:c.39106C>A	ENSP00000465570.1:p.Leu13036Met
ENST00000615779.4:c.39106C>A	ENSP00000483597.1:p.Leu13036Met
NM_001256850.1:c.39106C>A	NP_001243779.1:p.Leu13036Met
NM_001267550.2:c.44029C>A MANE Select	NP_001254479.2:p.Leu14677Met
NM_003319.4:c.16834C>A	NP_003310.4:p.Leu5612Met
NM_133378.4:c.36325C>A	NP_596869.4:p.Leu12109Met
NM_133432.3:c.17209C>A	NP_597676.3:p.Leu5737Met
NM_133437.4:c.17410C>A	NP_597681.4:p.Leu5804Met
XM_011511729.1:c.43126C>A	XP_011510031.1:p.Leu14376Met
XM_011511730.1:c.17020C>A	XP_011510032.1:p.Leu5674Met
XM_011511731.1:c.16879C>A	XP_011510033.1:p.Leu5627Met
XM_017004819.1:c.42922C>A	XP_016860308.1:p.Leu14308Met
XM_017004820.1:c.38320C>A	XP_016860309.1:p.Leu12774Met
XM_017004821.1:c.38317C>A	XP_016860310.1:p.Leu12773Met
XM_017004822.1:c.35359C>A	XP_016860311.1:p.Leu11787Met
XM_017004823.1:c.16975C>A	XP_016860312.1:p.Leu5659Met
XM_024453094.1:c.38470C>A	XP_024308862.1:p.Leu12824Met
XM_024453095.1:c.38467C>A	XP_024308863.1:p.Leu12823Met
XM_024453096.1:c.37900C>A	XP_024308864.1:p.Leu12634Met
XM_024453097.1:c.35242C>A	XP_024308865.1:p.Leu11748Met
XM_024453098.1:c.35161C>A	XP_024308866.1:p.Leu11721Met
XM_024453099.1:c.16924C>A	XP_024308867.1:p.Leu5642Met
XM_024453100.1:c.6778C>A	XP_024308868.1:p.Leu2260Met