Canonical Allele Identifier: CA61006563

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178636132C>T , CM000664.2:g.178636132C>T	GRCh38
NC_000002.11:g.179500859C>T , CM000664.1:g.179500859C>T	GRCh37
NC_000002.10:g.179209104C>T	NCBI36
NG_011618.3:g.199671G>A , LRG_391:g.199671G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.41439G>A MANE Select	NP_001254479.2:p.Arg13813=
ENST00000589042.5:c.41439G>A MANE Select	ENSP00000467141.1:p.Arg13813=
NM_001256850.1:c.36516G>A	NP_001243779.1:p.Arg12172=
NM_003319.4:c.14244G>A	NP_003310.4:p.Arg4748=
NM_133378.4:c.33735G>A	NP_596869.4:p.Arg11245=
NM_133432.3:c.14619G>A	NP_597676.3:p.Arg4873=
NM_133437.4:c.14820G>A	NP_597681.4:p.Arg4940=
ENST00000342175.10:c.14820G>A	ENSP00000340554.6:p.Arg4940=
ENST00000342175.11:c.14820G>A	ENSP00000340554.6:p.Arg4940=
ENST00000342992.10:c.33735G>A	ENSP00000343764.6:p.Arg11245=
ENST00000342992.11:c.33735G>A	ENSP00000343764.6:p.Arg11245=
ENST00000359218.10:c.14619G>A	ENSP00000352154.5:p.Arg4873=
ENST00000359218.9:c.14619G>A	ENSP00000352154.5:p.Arg4873=
ENST00000460472.6:c.14244G>A	ENSP00000434586.1:p.Arg4748=
ENST00000591111.5:c.36516G>A	ENSP00000465570.1:p.Arg12172=
ENST00000615779.4:c.36516G>A	ENSP00000483597.1:p.Arg12172=
XM_011511729.1:c.40536G>A	XP_011510031.1:p.Arg13512=
XM_011511730.1:c.14430G>A	XP_011510032.1:p.Arg4810=
XM_011511731.1:c.14289G>A	XP_011510033.1:p.Arg4763=
XM_017004819.1:c.40332G>A	XP_016860308.1:p.Arg13444=
XM_017004820.1:c.35730G>A	XP_016860309.1:p.Arg11910=
XM_017004821.1:c.35727G>A	XP_016860310.1:p.Arg11909=
XM_017004822.1:c.32769G>A	XP_016860311.1:p.Arg10923=
XM_017004823.1:c.14385G>A	XP_016860312.1:p.Arg4795=
XM_024453094.1:c.35880G>A	XP_024308862.1:p.Arg11960=
XM_024453095.1:c.35877G>A	XP_024308863.1:p.Arg11959=
XM_024453096.1:c.35310G>A	XP_024308864.1:p.Arg11770=
XM_024453097.1:c.32652G>A	XP_024308865.1:p.Arg10884=
XM_024453098.1:c.32571G>A	XP_024308866.1:p.Arg10857=
XM_024453099.1:c.14334G>A	XP_024308867.1:p.Arg4778=
XM_024453100.1:c.4188G>A	XP_024308868.1:p.Arg1396=