Canonical Allele Identifier: CA349489147

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178548667-T-A
• MyVariant Identifiers: chr2:g.179413394T>A (hg19) ; chr2:g.178548667T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548667T>A , CM000664.2:g.178548667T>A	GRCh38
NC_000002.11:g.179413394T>A , CM000664.1:g.179413394T>A	GRCh37
NC_000002.10:g.179121640T>A	NCBI36
NG_011618.3:g.287136A>T , LRG_391:g.287136A>T
NG_051363.1:g.30841T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.85255A>T (TTN)	ENSP00000343764.6:p.Asn28419Tyr
ENST00000342175.11:c.66340A>T (TTN)	ENSP00000340554.6:p.Asn22114Tyr
ENST00000359218.10:c.66139A>T (TTN)	ENSP00000352154.5:p.Asn22047Tyr
ENST00000342175.10:c.66340A>T (TTN)	ENSP00000340554.6:p.Asn22114Tyr
ENST00000342992.10:c.85255A>T (TTN)	ENSP00000343764.6:p.Asn28419Tyr
ENST00000359218.9:c.66139A>T (TTN)	ENSP00000352154.5:p.Asn22047Tyr
ENST00000460472.6:c.65764A>T (TTN)	ENSP00000434586.1:p.Asn21922Tyr
ENST00000589042.5:c.92959A>T (TTN) MANE Select	ENSP00000467141.1:p.Asn30987Tyr
ENST00000591111.5:c.88036A>T (TTN)	ENSP00000465570.1:p.Asn29346Tyr
ENST00000615779.4:c.88036A>T (TTN)	ENSP00000483597.1:p.Asn29346Tyr
NM_001256850.1:c.88036A>T (TTN)	NP_001243779.1:p.Asn29346Tyr
NM_001267550.2:c.92959A>T (TTN) MANE Select	NP_001254479.2:p.Asn30987Tyr
NM_003319.4:c.65764A>T (TTN)	NP_003310.4:p.Asn21922Tyr
NM_133378.4:c.85255A>T (TTN)	NP_596869.4:p.Asn28419Tyr
NM_133432.3:c.66139A>T (TTN)	NP_597676.3:p.Asn22047Tyr
NM_133437.4:c.66340A>T (TTN)	NP_597681.4:p.Asn22114Tyr
NR_038271.1:n.447-22633T>A (TTN-AS1)
NR_038272.1:n.2043+6306T>A (TTN-AS1)
XM_011511729.1:c.92056A>T (TTN)	XP_011510031.1:p.Asn30686Tyr
XM_011511730.1:c.65950A>T (TTN)	XP_011510032.1:p.Asn21984Tyr
XM_011511731.1:c.65809A>T (TTN)	XP_011510033.1:p.Asn21937Tyr
XM_017004819.1:c.91852A>T (TTN)	XP_016860308.1:p.Asn30618Tyr
XM_017004820.1:c.87250A>T (TTN)	XP_016860309.1:p.Asn29084Tyr
XM_017004821.1:c.87247A>T (TTN)	XP_016860310.1:p.Asn29083Tyr
XM_017004822.1:c.84289A>T (TTN)	XP_016860311.1:p.Asn28097Tyr
XM_017004823.1:c.65905A>T (TTN)	XP_016860312.1:p.Asn21969Tyr
XM_024453094.1:c.87400A>T (TTN)	XP_024308862.1:p.Asn29134Tyr
XM_024453095.1:c.87397A>T (TTN)	XP_024308863.1:p.Asn29133Tyr
XM_024453096.1:c.86830A>T (TTN)	XP_024308864.1:p.Asn28944Tyr
XM_024453097.1:c.84172A>T (TTN)	XP_024308865.1:p.Asn28058Tyr
XM_024453098.1:c.84091A>T (TTN)	XP_024308866.1:p.Asn28031Tyr
XM_024453099.1:c.65854A>T (TTN)	XP_024308867.1:p.Asn21952Tyr
XM_024453100.1:c.55708A>T (TTN)	XP_024308868.1:p.Asn18570Tyr