Canonical Allele Identifier: CA349496432

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414590G>A (hg19) ; chr2:g.178549863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549863G>A , CM000664.2:g.178549863G>A	GRCh38
NC_000002.11:g.179414590G>A , CM000664.1:g.179414590G>A	GRCh37
NC_000002.10:g.179122836G>A	NCBI36
NG_011618.3:g.285940C>T , LRG_391:g.285940C>T
NG_051363.1:g.32037G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84155C>T (TTN)	ENSP00000343764.6:p.Pro28052Leu
ENST00000342175.11:c.65240C>T (TTN)	ENSP00000340554.6:p.Pro21747Leu
ENST00000359218.10:c.65039C>T (TTN)	ENSP00000352154.5:p.Pro21680Leu
ENST00000342175.10:c.65240C>T (TTN)	ENSP00000340554.6:p.Pro21747Leu
ENST00000342992.10:c.84155C>T (TTN)	ENSP00000343764.6:p.Pro28052Leu
ENST00000359218.9:c.65039C>T (TTN)	ENSP00000352154.5:p.Pro21680Leu
ENST00000460472.6:c.64664C>T (TTN)	ENSP00000434586.1:p.Pro21555Leu
ENST00000589042.5:c.91859C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro30620Leu
ENST00000591111.5:c.86936C>T (TTN)	ENSP00000465570.1:p.Pro28979Leu
ENST00000615779.4:c.86936C>T (TTN)	ENSP00000483597.1:p.Pro28979Leu
NM_001256850.1:c.86936C>T (TTN)	NP_001243779.1:p.Pro28979Leu
NM_001267550.2:c.91859C>T (TTN) MANE Select	NP_001254479.2:p.Pro30620Leu
NM_003319.4:c.64664C>T (TTN)	NP_003310.4:p.Pro21555Leu
NM_133378.4:c.84155C>T (TTN)	NP_596869.4:p.Pro28052Leu
NM_133432.3:c.65039C>T (TTN)	NP_597676.3:p.Pro21680Leu
NM_133437.4:c.65240C>T (TTN)	NP_597681.4:p.Pro21747Leu
NR_038271.1:n.447-21437G>A (TTN-AS1)
NR_038272.1:n.2043+7502G>A (TTN-AS1)
XM_011511729.1:c.90956C>T (TTN)	XP_011510031.1:p.Pro30319Leu
XM_011511730.1:c.64850C>T (TTN)	XP_011510032.1:p.Pro21617Leu
XM_011511731.1:c.64709C>T (TTN)	XP_011510033.1:p.Pro21570Leu
XM_017004819.1:c.90752C>T (TTN)	XP_016860308.1:p.Pro30251Leu
XM_017004820.1:c.86150C>T (TTN)	XP_016860309.1:p.Pro28717Leu
XM_017004821.1:c.86147C>T (TTN)	XP_016860310.1:p.Pro28716Leu
XM_017004822.1:c.83189C>T (TTN)	XP_016860311.1:p.Pro27730Leu
XM_017004823.1:c.64805C>T (TTN)	XP_016860312.1:p.Pro21602Leu
XM_024453094.1:c.86300C>T (TTN)	XP_024308862.1:p.Pro28767Leu
XM_024453095.1:c.86297C>T (TTN)	XP_024308863.1:p.Pro28766Leu
XM_024453096.1:c.85730C>T (TTN)	XP_024308864.1:p.Pro28577Leu
XM_024453097.1:c.83072C>T (TTN)	XP_024308865.1:p.Pro27691Leu
XM_024453098.1:c.82991C>T (TTN)	XP_024308866.1:p.Pro27664Leu
XM_024453099.1:c.64754C>T (TTN)	XP_024308867.1:p.Pro21585Leu
XM_024453100.1:c.54608C>T (TTN)	XP_024308868.1:p.Pro18203Leu