Canonical Allele Identifier: CA349645132

Gene: TTN

Linked Data

• ClinVar Variation Id: 1778491
• ClinVar RCV Id: RCV002398830
• MyVariant Identifiers: chr2:g.179494974C>A (hg19) ; chr2:g.178630247C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630247C>A , CM000664.2:g.178630247C>A	GRCh38
NC_000002.11:g.179494974C>A , CM000664.1:g.179494974C>A	GRCh37
NC_000002.10:g.179203219C>A	NCBI36
NG_011618.3:g.205556G>T , LRG_391:g.205556G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36571G>T	ENSP00000343764.6:p.Val12191Phe
ENST00000342175.11:c.17656G>T	ENSP00000340554.6:p.Val5886Phe
ENST00000359218.10:c.17455G>T	ENSP00000352154.5:p.Val5819Phe
ENST00000342175.10:c.17656G>T	ENSP00000340554.6:p.Val5886Phe
ENST00000342992.10:c.36571G>T	ENSP00000343764.6:p.Val12191Phe
ENST00000359218.9:c.17455G>T	ENSP00000352154.5:p.Val5819Phe
ENST00000460472.6:c.17080G>T	ENSP00000434586.1:p.Val5694Phe
ENST00000589042.5:c.44275G>T MANE Select	ENSP00000467141.1:p.Val14759Phe
ENST00000591111.5:c.39352G>T	ENSP00000465570.1:p.Val13118Phe
ENST00000615779.4:c.39352G>T	ENSP00000483597.1:p.Val13118Phe
NM_001256850.1:c.39352G>T	NP_001243779.1:p.Val13118Phe
NM_001267550.2:c.44275G>T MANE Select	NP_001254479.2:p.Val14759Phe
NM_003319.4:c.17080G>T	NP_003310.4:p.Val5694Phe
NM_133378.4:c.36571G>T	NP_596869.4:p.Val12191Phe
NM_133432.3:c.17455G>T	NP_597676.3:p.Val5819Phe
NM_133437.4:c.17656G>T	NP_597681.4:p.Val5886Phe
XM_011511729.1:c.43372G>T	XP_011510031.1:p.Val14458Phe
XM_011511730.1:c.17266G>T	XP_011510032.1:p.Val5756Phe
XM_011511731.1:c.17125G>T	XP_011510033.1:p.Val5709Phe
XM_017004819.1:c.43168G>T	XP_016860308.1:p.Val14390Phe
XM_017004820.1:c.38566G>T	XP_016860309.1:p.Val12856Phe
XM_017004821.1:c.38563G>T	XP_016860310.1:p.Val12855Phe
XM_017004822.1:c.35605G>T	XP_016860311.1:p.Val11869Phe
XM_017004823.1:c.17221G>T	XP_016860312.1:p.Val5741Phe
XM_024453094.1:c.38716G>T	XP_024308862.1:p.Val12906Phe
XM_024453095.1:c.38713G>T	XP_024308863.1:p.Val12905Phe
XM_024453096.1:c.38146G>T	XP_024308864.1:p.Val12716Phe
XM_024453097.1:c.35488G>T	XP_024308865.1:p.Val11830Phe
XM_024453098.1:c.35407G>T	XP_024308866.1:p.Val11803Phe
XM_024453099.1:c.17170G>T	XP_024308867.1:p.Val5724Phe
XM_024453100.1:c.7024G>T	XP_024308868.1:p.Val2342Phe