Canonical Allele Identifier: CA349411765

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179396919T>A (hg19) ; chr2:g.178532192T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532192T>A , CM000664.2:g.178532192T>A	GRCh38
NC_000002.11:g.179396919T>A , CM000664.1:g.179396919T>A	GRCh37
NC_000002.10:g.179105165T>A	NCBI36
NG_011618.3:g.303611A>T , LRG_391:g.303611A>T
NG_051363.1:g.14366T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96719A>T (TTN)	ENSP00000343764.6:p.Glu32240Val
ENST00000342175.11:c.77804A>T (TTN)	ENSP00000340554.6:p.Glu25935Val
ENST00000359218.10:c.77603A>T (TTN)	ENSP00000352154.5:p.Glu25868Val
ENST00000342175.10:c.77804A>T (TTN)	ENSP00000340554.6:p.Glu25935Val
ENST00000342992.10:c.96719A>T (TTN)	ENSP00000343764.6:p.Glu32240Val
ENST00000359218.9:c.77603A>T (TTN)	ENSP00000352154.5:p.Glu25868Val
ENST00000460472.6:c.77228A>T (TTN)	ENSP00000434586.1:p.Glu25743Val
ENST00000589042.5:c.104423A>T (TTN) MANE Select	ENSP00000467141.1:p.Glu34808Val
ENST00000591111.5:c.99500A>T (TTN)	ENSP00000465570.1:p.Glu33167Val
ENST00000615779.4:c.99500A>T (TTN)	ENSP00000483597.1:p.Glu33167Val
NM_001256850.1:c.99500A>T (TTN)	NP_001243779.1:p.Glu33167Val
NM_001267550.2:c.104423A>T (TTN) MANE Select	NP_001254479.2:p.Glu34808Val
NM_003319.4:c.77228A>T (TTN)	NP_003310.4:p.Glu25743Val
NM_133378.4:c.96719A>T (TTN)	NP_596869.4:p.Glu32240Val
NM_133432.3:c.77603A>T (TTN)	NP_597676.3:p.Glu25868Val
NM_133437.4:c.77804A>T (TTN)	NP_597681.4:p.Glu25935Val
NR_038271.1:n.446+8556T>A (TTN-AS1)
NR_038272.1:n.220-3540T>A (TTN-AS1)
XM_011511729.1:c.103520A>T (TTN)	XP_011510031.1:p.Glu34507Val
XM_011511730.1:c.77414A>T (TTN)	XP_011510032.1:p.Glu25805Val
XM_011511731.1:c.77273A>T (TTN)	XP_011510033.1:p.Glu25758Val
XM_017004819.1:c.103316A>T (TTN)	XP_016860308.1:p.Glu34439Val
XM_017004820.1:c.98714A>T (TTN)	XP_016860309.1:p.Glu32905Val
XM_017004821.1:c.98711A>T (TTN)	XP_016860310.1:p.Glu32904Val
XM_017004822.1:c.95753A>T (TTN)	XP_016860311.1:p.Glu31918Val
XM_017004823.1:c.77369A>T (TTN)	XP_016860312.1:p.Glu25790Val
XM_024453094.1:c.98864A>T (TTN)	XP_024308862.1:p.Glu32955Val
XM_024453095.1:c.98861A>T (TTN)	XP_024308863.1:p.Glu32954Val
XM_024453096.1:c.98294A>T (TTN)	XP_024308864.1:p.Glu32765Val
XM_024453097.1:c.95636A>T (TTN)	XP_024308865.1:p.Glu31879Val
XM_024453098.1:c.95555A>T (TTN)	XP_024308866.1:p.Glu31852Val
XM_024453099.1:c.77318A>T (TTN)	XP_024308867.1:p.Glu25773Val
XM_024453100.1:c.67172A>T (TTN)	XP_024308868.1:p.Glu22391Val