Canonical Allele Identifier: CA349604252

Gene: TTN TTN-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568230C>A , CM000664.2:g.178568230C>A	GRCh38
NC_000002.11:g.179432957C>A , CM000664.1:g.179432957C>A	GRCh37
NC_000002.10:g.179141203C>A	NCBI36
NG_011618.3:g.267573G>T , LRG_391:g.267573G>T
NG_051363.1:g.50404C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001267550.2:c.77902G>T (TTN) MANE Select	NP_001254479.2:p.Glu25968Ter
ENST00000589042.5:c.77902G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu25968Ter
NM_001256850.1:c.72979G>T (TTN)	NP_001243779.1:p.Glu24327Ter
NM_003319.4:c.50707G>T (TTN)	NP_003310.4:p.Glu16903Ter
NM_133378.4:c.70198G>T (TTN)	NP_596869.4:p.Glu23400Ter
NM_133432.3:c.51082G>T (TTN)	NP_597676.3:p.Glu17028Ter
NM_133437.4:c.51283G>T (TTN)	NP_597681.4:p.Glu17095Ter
NR_038271.1:n.447-3070C>A (TTN-AS1)
NR_038272.1:n.2044-14342C>A (TTN-AS1)
ENST00000342175.10:c.51283G>T (TTN)	ENSP00000340554.6:p.Glu17095Ter
ENST00000342175.11:c.51283G>T (TTN)	ENSP00000340554.6:p.Glu17095Ter
ENST00000342992.10:c.70198G>T (TTN)	ENSP00000343764.6:p.Glu23400Ter
ENST00000342992.11:c.70198G>T (TTN)	ENSP00000343764.6:p.Glu23400Ter
ENST00000359218.10:c.51082G>T (TTN)	ENSP00000352154.5:p.Glu17028Ter
ENST00000359218.9:c.51082G>T (TTN)	ENSP00000352154.5:p.Glu17028Ter
ENST00000460472.6:c.50707G>T (TTN)	ENSP00000434586.1:p.Glu16903Ter
ENST00000591111.5:c.72979G>T (TTN)	ENSP00000465570.1:p.Glu24327Ter
ENST00000615779.4:c.72979G>T (TTN)	ENSP00000483597.1:p.Glu24327Ter
XM_011511729.1:c.76999G>T (TTN)	XP_011510031.1:p.Glu25667Ter
XM_011511730.1:c.50893G>T (TTN)	XP_011510032.1:p.Glu16965Ter
XM_011511731.1:c.50752G>T (TTN)	XP_011510033.1:p.Glu16918Ter
XM_017004819.1:c.76795G>T (TTN)	XP_016860308.1:p.Glu25599Ter
XM_017004820.1:c.72193G>T (TTN)	XP_016860309.1:p.Glu24065Ter
XM_017004821.1:c.72190G>T (TTN)	XP_016860310.1:p.Glu24064Ter
XM_017004822.1:c.69232G>T (TTN)	XP_016860311.1:p.Glu23078Ter
XM_017004823.1:c.50848G>T (TTN)	XP_016860312.1:p.Glu16950Ter
XM_024453094.1:c.72343G>T (TTN)	XP_024308862.1:p.Glu24115Ter
XM_024453095.1:c.72340G>T (TTN)	XP_024308863.1:p.Glu24114Ter
XM_024453096.1:c.71773G>T (TTN)	XP_024308864.1:p.Glu23925Ter
XM_024453097.1:c.69115G>T (TTN)	XP_024308865.1:p.Glu23039Ter
XM_024453098.1:c.69034G>T (TTN)	XP_024308866.1:p.Glu23012Ter
XM_024453099.1:c.50797G>T (TTN)	XP_024308867.1:p.Glu16933Ter
XM_024453100.1:c.40651G>T (TTN)	XP_024308868.1:p.Glu13551Ter