Canonical Allele Identifier: CA349512664

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417396C>A (hg19) ; chr2:g.178552669C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552669C>A , CM000664.2:g.178552669C>A	GRCh38
NC_000002.11:g.179417396C>A , CM000664.1:g.179417396C>A	GRCh37
NC_000002.10:g.179125642C>A	NCBI36
NG_011618.3:g.283134G>T , LRG_391:g.283134G>T
NG_051363.1:g.34843C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82527G>T (TTN)	ENSP00000343764.6:p.Trp27509Cys
ENST00000342175.11:c.63612G>T (TTN)	ENSP00000340554.6:p.Trp21204Cys
ENST00000359218.10:c.63411G>T (TTN)	ENSP00000352154.5:p.Trp21137Cys
ENST00000342175.10:c.63612G>T (TTN)	ENSP00000340554.6:p.Trp21204Cys
ENST00000342992.10:c.82527G>T (TTN)	ENSP00000343764.6:p.Trp27509Cys
ENST00000359218.9:c.63411G>T (TTN)	ENSP00000352154.5:p.Trp21137Cys
ENST00000460472.6:c.63036G>T (TTN)	ENSP00000434586.1:p.Trp21012Cys
ENST00000589042.5:c.90231G>T (TTN) MANE Select	ENSP00000467141.1:p.Trp30077Cys
ENST00000591111.5:c.85308G>T (TTN)	ENSP00000465570.1:p.Trp28436Cys
ENST00000615779.4:c.85308G>T (TTN)	ENSP00000483597.1:p.Trp28436Cys
NM_001256850.1:c.85308G>T (TTN)	NP_001243779.1:p.Trp28436Cys
NM_001267550.2:c.90231G>T (TTN) MANE Select	NP_001254479.2:p.Trp30077Cys
NM_003319.4:c.63036G>T (TTN)	NP_003310.4:p.Trp21012Cys
NM_133378.4:c.82527G>T (TTN)	NP_596869.4:p.Trp27509Cys
NM_133432.3:c.63411G>T (TTN)	NP_597676.3:p.Trp21137Cys
NM_133437.4:c.63612G>T (TTN)	NP_597681.4:p.Trp21204Cys
NR_038271.1:n.447-18631C>A (TTN-AS1)
NR_038272.1:n.2043+10308C>A (TTN-AS1)
XM_011511729.1:c.89328G>T (TTN)	XP_011510031.1:p.Trp29776Cys
XM_011511730.1:c.63222G>T (TTN)	XP_011510032.1:p.Trp21074Cys
XM_011511731.1:c.63081G>T (TTN)	XP_011510033.1:p.Trp21027Cys
XM_017004819.1:c.89124G>T (TTN)	XP_016860308.1:p.Trp29708Cys
XM_017004820.1:c.84522G>T (TTN)	XP_016860309.1:p.Trp28174Cys
XM_017004821.1:c.84519G>T (TTN)	XP_016860310.1:p.Trp28173Cys
XM_017004822.1:c.81561G>T (TTN)	XP_016860311.1:p.Trp27187Cys
XM_017004823.1:c.63177G>T (TTN)	XP_016860312.1:p.Trp21059Cys
XM_024453094.1:c.84672G>T (TTN)	XP_024308862.1:p.Trp28224Cys
XM_024453095.1:c.84669G>T (TTN)	XP_024308863.1:p.Trp28223Cys
XM_024453096.1:c.84102G>T (TTN)	XP_024308864.1:p.Trp28034Cys
XM_024453097.1:c.81444G>T (TTN)	XP_024308865.1:p.Trp27148Cys
XM_024453098.1:c.81363G>T (TTN)	XP_024308866.1:p.Trp27121Cys
XM_024453099.1:c.63126G>T (TTN)	XP_024308867.1:p.Trp21042Cys
XM_024453100.1:c.52980G>T (TTN)	XP_024308868.1:p.Trp17660Cys