Canonical Allele Identifier: CA430112770

Gene: TTN

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178629352A>G , CM000664.2:g.178629352A>G	GRCh38
NC_000002.11:g.179494079A>G , CM000664.1:g.179494079A>G	GRCh37
NC_000002.10:g.179202324A>G	NCBI36
NG_011618.3:g.206451T>C , LRG_391:g.206451T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.44373T>C MANE Select	NP_001254479.2:p.Asp14791=
ENST00000589042.5:c.44373T>C MANE Select	ENSP00000467141.1:p.Asp14791=
NM_001256850.1:c.39450T>C	NP_001243779.1:p.Asp13150=
NM_003319.4:c.17178T>C	NP_003310.4:p.Asp5726=
NM_133378.4:c.36669T>C	NP_596869.4:p.Asp12223=
NM_133432.3:c.17553T>C	NP_597676.3:p.Asp5851=
NM_133437.4:c.17754T>C	NP_597681.4:p.Asp5918=
ENST00000342175.10:c.17754T>C	ENSP00000340554.6:p.Asp5918=
ENST00000342175.11:c.17754T>C	ENSP00000340554.6:p.Asp5918=
ENST00000342992.10:c.36669T>C	ENSP00000343764.6:p.Asp12223=
ENST00000342992.11:c.36669T>C	ENSP00000343764.6:p.Asp12223=
ENST00000359218.10:c.17553T>C	ENSP00000352154.5:p.Asp5851=
ENST00000359218.9:c.17553T>C	ENSP00000352154.5:p.Asp5851=
ENST00000460472.6:c.17178T>C	ENSP00000434586.1:p.Asp5726=
ENST00000591111.5:c.39450T>C	ENSP00000465570.1:p.Asp13150=
ENST00000615779.4:c.39450T>C	ENSP00000483597.1:p.Asp13150=
XM_011511729.1:c.43470T>C	XP_011510031.1:p.Asp14490=
XM_011511730.1:c.17364T>C	XP_011510032.1:p.Asp5788=
XM_011511731.1:c.17223T>C	XP_011510033.1:p.Asp5741=
XM_017004819.1:c.43266T>C	XP_016860308.1:p.Asp14422=
XM_017004820.1:c.38664T>C	XP_016860309.1:p.Asp12888=
XM_017004821.1:c.38661T>C	XP_016860310.1:p.Asp12887=
XM_017004822.1:c.35703T>C	XP_016860311.1:p.Asp11901=
XM_017004823.1:c.17319T>C	XP_016860312.1:p.Asp5773=
XM_024453094.1:c.38814T>C	XP_024308862.1:p.Asp12938=
XM_024453095.1:c.38811T>C	XP_024308863.1:p.Asp12937=
XM_024453096.1:c.38244T>C	XP_024308864.1:p.Asp12748=
XM_024453097.1:c.35586T>C	XP_024308865.1:p.Asp11862=
XM_024453098.1:c.35505T>C	XP_024308866.1:p.Asp11835=
XM_024453099.1:c.17268T>C	XP_024308867.1:p.Asp5756=
XM_024453100.1:c.7122T>C	XP_024308868.1:p.Asp2374=