Canonical Allele Identifier: CA349541175

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179466271C>A (hg19) ; chr2:g.178601544C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178601544C>A , CM000664.2:g.178601544C>A	GRCh38
NC_000002.11:g.179466271C>A , CM000664.1:g.179466271C>A	GRCh37
NC_000002.10:g.179174516C>A	NCBI36
NG_011618.3:g.234259G>T , LRG_391:g.234259G>T
NG_051363.1:g.83718C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.47749G>T (TTN)	ENSP00000343764.6:p.Asp15917Tyr
ENST00000342175.11:c.28834G>T (TTN)	ENSP00000340554.6:p.Asp9612Tyr
ENST00000359218.10:c.28633G>T (TTN)	ENSP00000352154.5:p.Asp9545Tyr
ENST00000342175.10:c.28834G>T (TTN)	ENSP00000340554.6:p.Asp9612Tyr
ENST00000342992.10:c.47749G>T (TTN)	ENSP00000343764.6:p.Asp15917Tyr
ENST00000359218.9:c.28633G>T (TTN)	ENSP00000352154.5:p.Asp9545Tyr
ENST00000460472.6:c.28258G>T (TTN)	ENSP00000434586.1:p.Asp9420Tyr
ENST00000589042.5:c.55453G>T (TTN) MANE Select	ENSP00000467141.1:p.Asp18485Tyr
ENST00000591111.5:c.50530G>T (TTN)	ENSP00000465570.1:p.Asp16844Tyr
ENST00000615779.4:c.50530G>T (TTN)	ENSP00000483597.1:p.Asp16844Tyr
NM_001256850.1:c.50530G>T (TTN)	NP_001243779.1:p.Asp16844Tyr
NM_001267550.2:c.55453G>T (TTN) MANE Select	NP_001254479.2:p.Asp18485Tyr
NM_003319.4:c.28258G>T (TTN)	NP_003310.4:p.Asp9420Tyr
NM_133378.4:c.47749G>T (TTN)	NP_596869.4:p.Asp15917Tyr
NM_133432.3:c.28633G>T (TTN)	NP_597676.3:p.Asp9545Tyr
NM_133437.4:c.28834G>T (TTN)	NP_597681.4:p.Asp9612Tyr
NR_038271.1:n.682+3863C>A (TTN-AS1)
NR_038272.1:n.3917+877C>A (TTN-AS1)
XM_011511729.1:c.54550G>T (TTN)	XP_011510031.1:p.Asp18184Tyr
XM_011511730.1:c.28444G>T (TTN)	XP_011510032.1:p.Asp9482Tyr
XM_011511731.1:c.28303G>T (TTN)	XP_011510033.1:p.Asp9435Tyr
XM_017004819.1:c.54346G>T (TTN)	XP_016860308.1:p.Asp18116Tyr
XM_017004820.1:c.49744G>T (TTN)	XP_016860309.1:p.Asp16582Tyr
XM_017004821.1:c.49741G>T (TTN)	XP_016860310.1:p.Asp16581Tyr
XM_017004822.1:c.46783G>T (TTN)	XP_016860311.1:p.Asp15595Tyr
XM_017004823.1:c.28399G>T (TTN)	XP_016860312.1:p.Asp9467Tyr
XM_024453094.1:c.49894G>T (TTN)	XP_024308862.1:p.Asp16632Tyr
XM_024453095.1:c.49891G>T (TTN)	XP_024308863.1:p.Asp16631Tyr
XM_024453096.1:c.49324G>T (TTN)	XP_024308864.1:p.Asp16442Tyr
XM_024453097.1:c.46666G>T (TTN)	XP_024308865.1:p.Asp15556Tyr
XM_024453098.1:c.46585G>T (TTN)	XP_024308866.1:p.Asp15529Tyr
XM_024453099.1:c.28348G>T (TTN)	XP_024308867.1:p.Asp9450Tyr
XM_024453100.1:c.18202G>T (TTN)	XP_024308868.1:p.Asp6068Tyr