Canonical Allele Identifier: CA349645616

Gene: TTN

Linked Data

• MyVariant Identifiers: chr2:g.179495052A>T (hg19) ; chr2:g.178630325A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630325A>T , CM000664.2:g.178630325A>T	GRCh38
NC_000002.11:g.179495052A>T , CM000664.1:g.179495052A>T	GRCh37
NC_000002.10:g.179203297A>T	NCBI36
NG_011618.3:g.205478T>A , LRG_391:g.205478T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.36493T>A	ENSP00000343764.6:p.Leu12165Met
ENST00000342175.11:c.17578T>A	ENSP00000340554.6:p.Leu5860Met
ENST00000359218.10:c.17377T>A	ENSP00000352154.5:p.Leu5793Met
ENST00000342175.10:c.17578T>A	ENSP00000340554.6:p.Leu5860Met
ENST00000342992.10:c.36493T>A	ENSP00000343764.6:p.Leu12165Met
ENST00000359218.9:c.17377T>A	ENSP00000352154.5:p.Leu5793Met
ENST00000460472.6:c.17002T>A	ENSP00000434586.1:p.Leu5668Met
ENST00000589042.5:c.44197T>A MANE Select	ENSP00000467141.1:p.Leu14733Met
ENST00000591111.5:c.39274T>A	ENSP00000465570.1:p.Leu13092Met
ENST00000615779.4:c.39274T>A	ENSP00000483597.1:p.Leu13092Met
NM_001256850.1:c.39274T>A	NP_001243779.1:p.Leu13092Met
NM_001267550.2:c.44197T>A MANE Select	NP_001254479.2:p.Leu14733Met
NM_003319.4:c.17002T>A	NP_003310.4:p.Leu5668Met
NM_133378.4:c.36493T>A	NP_596869.4:p.Leu12165Met
NM_133432.3:c.17377T>A	NP_597676.3:p.Leu5793Met
NM_133437.4:c.17578T>A	NP_597681.4:p.Leu5860Met
XM_011511729.1:c.43294T>A	XP_011510031.1:p.Leu14432Met
XM_011511730.1:c.17188T>A	XP_011510032.1:p.Leu5730Met
XM_011511731.1:c.17047T>A	XP_011510033.1:p.Leu5683Met
XM_017004819.1:c.43090T>A	XP_016860308.1:p.Leu14364Met
XM_017004820.1:c.38488T>A	XP_016860309.1:p.Leu12830Met
XM_017004821.1:c.38485T>A	XP_016860310.1:p.Leu12829Met
XM_017004822.1:c.35527T>A	XP_016860311.1:p.Leu11843Met
XM_017004823.1:c.17143T>A	XP_016860312.1:p.Leu5715Met
XM_024453094.1:c.38638T>A	XP_024308862.1:p.Leu12880Met
XM_024453095.1:c.38635T>A	XP_024308863.1:p.Leu12879Met
XM_024453096.1:c.38068T>A	XP_024308864.1:p.Leu12690Met
XM_024453097.1:c.35410T>A	XP_024308865.1:p.Leu11804Met
XM_024453098.1:c.35329T>A	XP_024308866.1:p.Leu11777Met
XM_024453099.1:c.17092T>A	XP_024308867.1:p.Leu5698Met
XM_024453100.1:c.6946T>A	XP_024308868.1:p.Leu2316Met