Canonical Allele Identifier: CA1995681

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178629441G>T , CM000664.2:g.178629441G>T	GRCh38
NC_000002.11:g.179494168G>T , CM000664.1:g.179494168G>T	GRCh37
NC_000002.10:g.179202413G>T	NCBI36
NG_011618.3:g.206362C>A , LRG_391:g.206362C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.44284C>A MANE Select	NP_001254479.2:p.Arg14762=
ENST00000589042.5:c.44284C>A MANE Select	ENSP00000467141.1:p.Arg14762=
NM_001256850.1:c.39361C>A	NP_001243779.1:p.Arg13121=
NM_003319.4:c.17089C>A	NP_003310.4:p.Arg5697=
NM_133378.4:c.36580C>A	NP_596869.4:p.Arg12194=
NM_133432.3:c.17464C>A	NP_597676.3:p.Arg5822=
NM_133437.4:c.17665C>A	NP_597681.4:p.Arg5889=
ENST00000342175.10:c.17665C>A	ENSP00000340554.6:p.Arg5889=
ENST00000342175.11:c.17665C>A	ENSP00000340554.6:p.Arg5889=
ENST00000342992.10:c.36580C>A	ENSP00000343764.6:p.Arg12194=
ENST00000342992.11:c.36580C>A	ENSP00000343764.6:p.Arg12194=
ENST00000359218.10:c.17464C>A	ENSP00000352154.5:p.Arg5822=
ENST00000359218.9:c.17464C>A	ENSP00000352154.5:p.Arg5822=
ENST00000460472.6:c.17089C>A	ENSP00000434586.1:p.Arg5697=
ENST00000591111.5:c.39361C>A	ENSP00000465570.1:p.Arg13121=
ENST00000615779.4:c.39361C>A	ENSP00000483597.1:p.Arg13121=
XM_011511729.1:c.43381C>A	XP_011510031.1:p.Arg14461=
XM_011511730.1:c.17275C>A	XP_011510032.1:p.Arg5759=
XM_011511731.1:c.17134C>A	XP_011510033.1:p.Arg5712=
XM_017004819.1:c.43177C>A	XP_016860308.1:p.Arg14393=
XM_017004820.1:c.38575C>A	XP_016860309.1:p.Arg12859=
XM_017004821.1:c.38572C>A	XP_016860310.1:p.Arg12858=
XM_017004822.1:c.35614C>A	XP_016860311.1:p.Arg11872=
XM_017004823.1:c.17230C>A	XP_016860312.1:p.Arg5744=
XM_024453094.1:c.38725C>A	XP_024308862.1:p.Arg12909=
XM_024453095.1:c.38722C>A	XP_024308863.1:p.Arg12908=
XM_024453096.1:c.38155C>A	XP_024308864.1:p.Arg12719=
XM_024453097.1:c.35497C>A	XP_024308865.1:p.Arg11833=
XM_024453098.1:c.35416C>A	XP_024308866.1:p.Arg11806=
XM_024453099.1:c.17179C>A	XP_024308867.1:p.Arg5727=
XM_024453100.1:c.7033C>A	XP_024308868.1:p.Arg2345=