Canonical Allele Identifier: CA349646348

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495655A>T (hg19) ; chr2:g.178630928A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630928A>T , CM000664.2:g.178630928A>T	GRCh38
NC_000002.11:g.179495655A>T , CM000664.1:g.179495655A>T	GRCh37
NC_000002.10:g.179203900A>T	NCBI36
NG_011618.3:g.204875T>A , LRG_391:g.204875T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36326T>A	ENSP00000343764.6:p.Leu12109Gln
ENST00000342175.11:c.17411T>A	ENSP00000340554.6:p.Leu5804Gln
ENST00000359218.10:c.17210T>A	ENSP00000352154.5:p.Leu5737Gln
ENST00000342175.10:c.17411T>A	ENSP00000340554.6:p.Leu5804Gln
ENST00000342992.10:c.36326T>A	ENSP00000343764.6:p.Leu12109Gln
ENST00000359218.9:c.17210T>A	ENSP00000352154.5:p.Leu5737Gln
ENST00000460472.6:c.16835T>A	ENSP00000434586.1:p.Leu5612Gln
ENST00000589042.5:c.44030T>A MANE Select	ENSP00000467141.1:p.Leu14677Gln
ENST00000591111.5:c.39107T>A	ENSP00000465570.1:p.Leu13036Gln
ENST00000615779.4:c.39107T>A	ENSP00000483597.1:p.Leu13036Gln
NM_001256850.1:c.39107T>A	NP_001243779.1:p.Leu13036Gln
NM_001267550.2:c.44030T>A MANE Select	NP_001254479.2:p.Leu14677Gln
NM_003319.4:c.16835T>A	NP_003310.4:p.Leu5612Gln
NM_133378.4:c.36326T>A	NP_596869.4:p.Leu12109Gln
NM_133432.3:c.17210T>A	NP_597676.3:p.Leu5737Gln
NM_133437.4:c.17411T>A	NP_597681.4:p.Leu5804Gln
XM_011511729.1:c.43127T>A	XP_011510031.1:p.Leu14376Gln
XM_011511730.1:c.17021T>A	XP_011510032.1:p.Leu5674Gln
XM_011511731.1:c.16880T>A	XP_011510033.1:p.Leu5627Gln
XM_017004819.1:c.42923T>A	XP_016860308.1:p.Leu14308Gln
XM_017004820.1:c.38321T>A	XP_016860309.1:p.Leu12774Gln
XM_017004821.1:c.38318T>A	XP_016860310.1:p.Leu12773Gln
XM_017004822.1:c.35360T>A	XP_016860311.1:p.Leu11787Gln
XM_017004823.1:c.16976T>A	XP_016860312.1:p.Leu5659Gln
XM_024453094.1:c.38471T>A	XP_024308862.1:p.Leu12824Gln
XM_024453095.1:c.38468T>A	XP_024308863.1:p.Leu12823Gln
XM_024453096.1:c.37901T>A	XP_024308864.1:p.Leu12634Gln
XM_024453097.1:c.35243T>A	XP_024308865.1:p.Leu11748Gln
XM_024453098.1:c.35162T>A	XP_024308866.1:p.Leu11721Gln
XM_024453099.1:c.16925T>A	XP_024308867.1:p.Leu5642Gln
XM_024453100.1:c.6779T>A	XP_024308868.1:p.Leu2260Gln