Canonical Allele Identifier: CA349621072

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435189G>C (hg19) ; chr2:g.178570462G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570462G>C , CM000664.2:g.178570462G>C	GRCh38
NC_000002.11:g.179435189G>C , CM000664.1:g.179435189G>C	GRCh37
NC_000002.10:g.179143435G>C	NCBI36
NG_011618.3:g.265341C>G , LRG_391:g.265341C>G
NG_051363.1:g.52636G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.67966C>G (TTN)	ENSP00000343764.6:p.Leu22656Val
ENST00000342175.11:c.49051C>G (TTN)	ENSP00000340554.6:p.Leu16351Val
ENST00000359218.10:c.48850C>G (TTN)	ENSP00000352154.5:p.Leu16284Val
ENST00000342175.10:c.49051C>G (TTN)	ENSP00000340554.6:p.Leu16351Val
ENST00000342992.10:c.67966C>G (TTN)	ENSP00000343764.6:p.Leu22656Val
ENST00000359218.9:c.48850C>G (TTN)	ENSP00000352154.5:p.Leu16284Val
ENST00000460472.6:c.48475C>G (TTN)	ENSP00000434586.1:p.Leu16159Val
ENST00000589042.5:c.75670C>G (TTN) MANE Select	ENSP00000467141.1:p.Leu25224Val
ENST00000591111.5:c.70747C>G (TTN)	ENSP00000465570.1:p.Leu23583Val
ENST00000615779.4:c.70747C>G (TTN)	ENSP00000483597.1:p.Leu23583Val
NM_001256850.1:c.70747C>G (TTN)	NP_001243779.1:p.Leu23583Val
NM_001267550.2:c.75670C>G (TTN) MANE Select	NP_001254479.2:p.Leu25224Val
NM_003319.4:c.48475C>G (TTN)	NP_003310.4:p.Leu16159Val
NM_133378.4:c.67966C>G (TTN)	NP_596869.4:p.Leu22656Val
NM_133432.3:c.48850C>G (TTN)	NP_597676.3:p.Leu16284Val
NM_133437.4:c.49051C>G (TTN)	NP_597681.4:p.Leu16351Val
NR_038271.1:n.447-838G>C (TTN-AS1)
NR_038272.1:n.2044-12110G>C (TTN-AS1)
XM_011511729.1:c.74767C>G (TTN)	XP_011510031.1:p.Leu24923Val
XM_011511730.1:c.48661C>G (TTN)	XP_011510032.1:p.Leu16221Val
XM_011511731.1:c.48520C>G (TTN)	XP_011510033.1:p.Leu16174Val
XM_017004819.1:c.74563C>G (TTN)	XP_016860308.1:p.Leu24855Val
XM_017004820.1:c.69961C>G (TTN)	XP_016860309.1:p.Leu23321Val
XM_017004821.1:c.69958C>G (TTN)	XP_016860310.1:p.Leu23320Val
XM_017004822.1:c.67000C>G (TTN)	XP_016860311.1:p.Leu22334Val
XM_017004823.1:c.48616C>G (TTN)	XP_016860312.1:p.Leu16206Val
XM_024453094.1:c.70111C>G (TTN)	XP_024308862.1:p.Leu23371Val
XM_024453095.1:c.70108C>G (TTN)	XP_024308863.1:p.Leu23370Val
XM_024453096.1:c.69541C>G (TTN)	XP_024308864.1:p.Leu23181Val
XM_024453097.1:c.66883C>G (TTN)	XP_024308865.1:p.Leu22295Val
XM_024453098.1:c.66802C>G (TTN)	XP_024308866.1:p.Leu22268Val
XM_024453099.1:c.48565C>G (TTN)	XP_024308867.1:p.Leu16189Val
XM_024453100.1:c.38419C>G (TTN)	XP_024308868.1:p.Leu12807Val