Canonical Allele Identifier: CA16610331

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 404920
• ClinVar RCV Id: RCV002225615 ; RCV001376910 ; RCV002365597 ; RCV003114580
• dbSNP Id: rs1060500495
• gnomAD v4: 2-178552140-C-A
• MyVariant Identifiers: chr2:g.179416867C>A (hg19) ; chr2:g.178552140C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552140C>A , CM000664.2:g.178552140C>A	GRCh38
NC_000002.11:g.179416867C>A , CM000664.1:g.179416867C>A	GRCh37
NC_000002.10:g.179125113C>A	NCBI36
NG_011618.3:g.283663G>T , LRG_391:g.283663G>T
NG_051363.1:g.34314C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83056G>T (TTN)	ENSP00000343764.6:p.Gly27686Ter
ENST00000342175.11:c.64141G>T (TTN)	ENSP00000340554.6:p.Gly21381Ter
ENST00000359218.10:c.63940G>T (TTN)	ENSP00000352154.5:p.Gly21314Ter
ENST00000342175.10:c.64141G>T (TTN)	ENSP00000340554.6:p.Gly21381Ter
ENST00000342992.10:c.83056G>T (TTN)	ENSP00000343764.6:p.Gly27686Ter
ENST00000359218.9:c.63940G>T (TTN)	ENSP00000352154.5:p.Gly21314Ter
ENST00000460472.6:c.63565G>T (TTN)	ENSP00000434586.1:p.Gly21189Ter
ENST00000589042.5:c.90760G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly30254Ter
ENST00000591111.5:c.85837G>T (TTN)	ENSP00000465570.1:p.Gly28613Ter
ENST00000615779.4:c.85837G>T (TTN)	ENSP00000483597.1:p.Gly28613Ter
NM_001256850.1:c.85837G>T (TTN)	NP_001243779.1:p.Gly28613Ter
NM_001267550.2:c.90760G>T (TTN) MANE Select	NP_001254479.2:p.Gly30254Ter
NM_003319.4:c.63565G>T (TTN)	NP_003310.4:p.Gly21189Ter
NM_133378.4:c.83056G>T (TTN)	NP_596869.4:p.Gly27686Ter
NM_133432.3:c.63940G>T (TTN)	NP_597676.3:p.Gly21314Ter
NM_133437.4:c.64141G>T (TTN)	NP_597681.4:p.Gly21381Ter
NR_038271.1:n.447-19160C>A (TTN-AS1)
NR_038272.1:n.2043+9779C>A (TTN-AS1)
XM_011511729.1:c.89857G>T (TTN)	XP_011510031.1:p.Gly29953Ter
XM_011511730.1:c.63751G>T (TTN)	XP_011510032.1:p.Gly21251Ter
XM_011511731.1:c.63610G>T (TTN)	XP_011510033.1:p.Gly21204Ter
XM_017004819.1:c.89653G>T (TTN)	XP_016860308.1:p.Gly29885Ter
XM_017004820.1:c.85051G>T (TTN)	XP_016860309.1:p.Gly28351Ter
XM_017004821.1:c.85048G>T (TTN)	XP_016860310.1:p.Gly28350Ter
XM_017004822.1:c.82090G>T (TTN)	XP_016860311.1:p.Gly27364Ter
XM_017004823.1:c.63706G>T (TTN)	XP_016860312.1:p.Gly21236Ter
XM_024453094.1:c.85201G>T (TTN)	XP_024308862.1:p.Gly28401Ter
XM_024453095.1:c.85198G>T (TTN)	XP_024308863.1:p.Gly28400Ter
XM_024453096.1:c.84631G>T (TTN)	XP_024308864.1:p.Gly28211Ter
XM_024453097.1:c.81973G>T (TTN)	XP_024308865.1:p.Gly27325Ter
XM_024453098.1:c.81892G>T (TTN)	XP_024308866.1:p.Gly27298Ter
XM_024453099.1:c.63655G>T (TTN)	XP_024308867.1:p.Gly21219Ter
XM_024453100.1:c.53509G>T (TTN)	XP_024308868.1:p.Gly17837Ter