Canonical Allele Identifier: CA1039714112

Gene: TTN

Linked Data

• dbSNP Id: rs2059626355
• gnomAD v3: 2-178630194-C-T
• gnomAD v4: 2-178630194-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178630194C>T , CM000664.2:g.178630194C>T	GRCh38
NC_000002.11:g.179494921C>T , CM000664.1:g.179494921C>T	GRCh37
NC_000002.10:g.179203166C>T	NCBI36
NG_011618.3:g.205609G>A , LRG_391:g.205609G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.36577+47G>A	ENSP00000343764.6:n.36577+47G>A
ENST00000342175.11:c.17662+47G>A	ENSP00000340554.6:n.17662+47G>A
ENST00000359218.10:c.17461+47G>A	ENSP00000352154.5:n.17461+47G>A
ENST00000342175.10:c.17662+47G>A	ENSP00000340554.6:n.17662+47G>A
ENST00000342992.10:c.36577+47G>A	ENSP00000343764.6:n.36577+47G>A
ENST00000359218.9:c.17461+47G>A	ENSP00000352154.5:n.17461+47G>A
ENST00000460472.6:c.17086+47G>A	ENSP00000434586.1:n.17086+47G>A
ENST00000589042.5:c.44281+47G>A MANE Select	ENSP00000467141.1:n.44281+47G>A
ENST00000591111.5:c.39358+47G>A	ENSP00000465570.1:n.39358+47G>A
ENST00000615779.4:c.39358+47G>A	ENSP00000483597.1:n.39358+47G>A
NM_001256850.1:c.39358+47G>A	NP_001243779.1:n.39358+47G>A
NM_001267550.2:c.44281+47G>A MANE Select	NP_001254479.2:n.44281+47G>A
NM_003319.4:c.17086+47G>A	NP_003310.4:n.17086+47G>A
NM_133378.4:c.36577+47G>A	NP_596869.4:n.36577+47G>A
NM_133432.3:c.17461+47G>A	NP_597676.3:n.17461+47G>A
NM_133437.4:c.17662+47G>A	NP_597681.4:n.17662+47G>A
XM_011511729.1:c.43378+47G>A	XP_011510031.1:n.43378+47G>A
XM_011511730.1:c.17272+47G>A	XP_011510032.1:n.17272+47G>A
XM_011511731.1:c.17131+47G>A	XP_011510033.1:n.17131+47G>A
XM_017004819.1:c.43174+47G>A	XP_016860308.1:n.43174+47G>A
XM_017004820.1:c.38572+47G>A	XP_016860309.1:n.38572+47G>A
XM_017004821.1:c.38569+47G>A	XP_016860310.1:n.38569+47G>A
XM_017004822.1:c.35611+47G>A	XP_016860311.1:n.35611+47G>A
XM_017004823.1:c.17227+47G>A	XP_016860312.1:n.17227+47G>A
XM_024453094.1:c.38722+47G>A	XP_024308862.1:n.38722+47G>A
XM_024453095.1:c.38719+47G>A	XP_024308863.1:n.38719+47G>A
XM_024453096.1:c.38152+47G>A	XP_024308864.1:n.38152+47G>A
XM_024453097.1:c.35494+47G>A	XP_024308865.1:n.35494+47G>A
XM_024453098.1:c.35413+47G>A	XP_024308866.1:n.35413+47G>A
XM_024453099.1:c.17176+47G>A	XP_024308867.1:n.17176+47G>A
XM_024453100.1:c.7030+47G>A	XP_024308868.1:n.7030+47G>A