Canonical Allele Identifier: CA349425363

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179400887C>A (hg19) ; chr2:g.178536160C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178536160C>A , CM000664.2:g.178536160C>A	GRCh38
NC_000002.11:g.179400887C>A , CM000664.1:g.179400887C>A	GRCh37
NC_000002.10:g.179109133C>A	NCBI36
NG_011618.3:g.299643G>T , LRG_391:g.299643G>T
NG_051363.1:g.18334C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.92883G>T (TTN)	ENSP00000343764.6:p.Trp30961Cys
ENST00000342175.11:c.73968G>T (TTN)	ENSP00000340554.6:p.Trp24656Cys
ENST00000359218.10:c.73767G>T (TTN)	ENSP00000352154.5:p.Trp24589Cys
ENST00000342175.10:c.73968G>T (TTN)	ENSP00000340554.6:p.Trp24656Cys
ENST00000342992.10:c.92883G>T (TTN)	ENSP00000343764.6:p.Trp30961Cys
ENST00000359218.9:c.73767G>T (TTN)	ENSP00000352154.5:p.Trp24589Cys
ENST00000460472.6:c.73392G>T (TTN)	ENSP00000434586.1:p.Trp24464Cys
ENST00000589042.5:c.100587G>T (TTN) MANE Select	ENSP00000467141.1:p.Trp33529Cys
ENST00000591111.5:c.95664G>T (TTN)	ENSP00000465570.1:p.Trp31888Cys
ENST00000615779.4:c.95664G>T (TTN)	ENSP00000483597.1:p.Trp31888Cys
NM_001256850.1:c.95664G>T (TTN)	NP_001243779.1:p.Trp31888Cys
NM_001267550.2:c.100587G>T (TTN) MANE Select	NP_001254479.2:p.Trp33529Cys
NM_003319.4:c.73392G>T (TTN)	NP_003310.4:p.Trp24464Cys
NM_133378.4:c.92883G>T (TTN)	NP_596869.4:p.Trp30961Cys
NM_133432.3:c.73767G>T (TTN)	NP_597676.3:p.Trp24589Cys
NM_133437.4:c.73968G>T (TTN)	NP_597681.4:p.Trp24656Cys
NR_038271.1:n.446+12524C>A (TTN-AS1)
NR_038272.1:n.316+332C>A (TTN-AS1)
XM_011511729.1:c.99684G>T (TTN)	XP_011510031.1:p.Trp33228Cys
XM_011511730.1:c.73578G>T (TTN)	XP_011510032.1:p.Trp24526Cys
XM_011511731.1:c.73437G>T (TTN)	XP_011510033.1:p.Trp24479Cys
XM_017004819.1:c.99480G>T (TTN)	XP_016860308.1:p.Trp33160Cys
XM_017004820.1:c.94878G>T (TTN)	XP_016860309.1:p.Trp31626Cys
XM_017004821.1:c.94875G>T (TTN)	XP_016860310.1:p.Trp31625Cys
XM_017004822.1:c.91917G>T (TTN)	XP_016860311.1:p.Trp30639Cys
XM_017004823.1:c.73533G>T (TTN)	XP_016860312.1:p.Trp24511Cys
XM_024453094.1:c.95028G>T (TTN)	XP_024308862.1:p.Trp31676Cys
XM_024453095.1:c.95025G>T (TTN)	XP_024308863.1:p.Trp31675Cys
XM_024453096.1:c.94458G>T (TTN)	XP_024308864.1:p.Trp31486Cys
XM_024453097.1:c.91800G>T (TTN)	XP_024308865.1:p.Trp30600Cys
XM_024453098.1:c.91719G>T (TTN)	XP_024308866.1:p.Trp30573Cys
XM_024453099.1:c.73482G>T (TTN)	XP_024308867.1:p.Trp24494Cys
XM_024453100.1:c.63336G>T (TTN)	XP_024308868.1:p.Trp21112Cys