Canonical Allele Identifier: CA349478917

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179412363C>A (hg19) ; chr2:g.178547636C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547636C>A , CM000664.2:g.178547636C>A	GRCh38
NC_000002.11:g.179412363C>A , CM000664.1:g.179412363C>A	GRCh37
NC_000002.10:g.179120609C>A	NCBI36
NG_011618.3:g.288167G>T , LRG_391:g.288167G>T
NG_051363.1:g.29810C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86286G>T (TTN)	ENSP00000343764.6:p.Trp28762Cys
ENST00000342175.11:c.67371G>T (TTN)	ENSP00000340554.6:p.Trp22457Cys
ENST00000359218.10:c.67170G>T (TTN)	ENSP00000352154.5:p.Trp22390Cys
ENST00000342175.10:c.67371G>T (TTN)	ENSP00000340554.6:p.Trp22457Cys
ENST00000342992.10:c.86286G>T (TTN)	ENSP00000343764.6:p.Trp28762Cys
ENST00000359218.9:c.67170G>T (TTN)	ENSP00000352154.5:p.Trp22390Cys
ENST00000460472.6:c.66795G>T (TTN)	ENSP00000434586.1:p.Trp22265Cys
ENST00000589042.5:c.93990G>T (TTN) MANE Select	ENSP00000467141.1:p.Trp31330Cys
ENST00000591111.5:c.89067G>T (TTN)	ENSP00000465570.1:p.Trp29689Cys
ENST00000615779.4:c.89067G>T (TTN)	ENSP00000483597.1:p.Trp29689Cys
NM_001256850.1:c.89067G>T (TTN)	NP_001243779.1:p.Trp29689Cys
NM_001267550.2:c.93990G>T (TTN) MANE Select	NP_001254479.2:p.Trp31330Cys
NM_003319.4:c.66795G>T (TTN)	NP_003310.4:p.Trp22265Cys
NM_133378.4:c.86286G>T (TTN)	NP_596869.4:p.Trp28762Cys
NM_133432.3:c.67170G>T (TTN)	NP_597676.3:p.Trp22390Cys
NM_133437.4:c.67371G>T (TTN)	NP_597681.4:p.Trp22457Cys
NR_038271.1:n.447-23664C>A (TTN-AS1)
NR_038272.1:n.2043+5275C>A (TTN-AS1)
XM_011511729.1:c.93087G>T (TTN)	XP_011510031.1:p.Trp31029Cys
XM_011511730.1:c.66981G>T (TTN)	XP_011510032.1:p.Trp22327Cys
XM_011511731.1:c.66840G>T (TTN)	XP_011510033.1:p.Trp22280Cys
XM_017004819.1:c.92883G>T (TTN)	XP_016860308.1:p.Trp30961Cys
XM_017004820.1:c.88281G>T (TTN)	XP_016860309.1:p.Trp29427Cys
XM_017004821.1:c.88278G>T (TTN)	XP_016860310.1:p.Trp29426Cys
XM_017004822.1:c.85320G>T (TTN)	XP_016860311.1:p.Trp28440Cys
XM_017004823.1:c.66936G>T (TTN)	XP_016860312.1:p.Trp22312Cys
XM_024453094.1:c.88431G>T (TTN)	XP_024308862.1:p.Trp29477Cys
XM_024453095.1:c.88428G>T (TTN)	XP_024308863.1:p.Trp29476Cys
XM_024453096.1:c.87861G>T (TTN)	XP_024308864.1:p.Trp29287Cys
XM_024453097.1:c.85203G>T (TTN)	XP_024308865.1:p.Trp28401Cys
XM_024453098.1:c.85122G>T (TTN)	XP_024308866.1:p.Trp28374Cys
XM_024453099.1:c.66885G>T (TTN)	XP_024308867.1:p.Trp22295Cys
XM_024453100.1:c.56739G>T (TTN)	XP_024308868.1:p.Trp18913Cys