Canonical Allele Identifier: CA60953079

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 808891
• ClinVar RCV Id: RCV001858858 ; RCV003222188
• dbSNP Id: rs879170800
• gnomAD v3: 2-178530115-G-A
• gnomAD v4: 2-178530115-G-A
• COSMIC: COSM2895548 ; COSM2895549 ; COSM2895550 ; COSM2895551
• MyVariant Identifiers: chr2:g.179394842G>A (hg19) ; chr2:g.178530115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530115G>A , CM000664.2:g.178530115G>A	GRCh38
NC_000002.11:g.179394842G>A , CM000664.1:g.179394842G>A	GRCh37
NC_000002.10:g.179103088G>A	NCBI36
NG_011618.3:g.305688C>T , LRG_391:g.305688C>T
NG_051363.1:g.12289G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98672C>T (TTN)	ENSP00000343764.6:p.Ala32891Val
ENST00000342175.11:c.79757C>T (TTN)	ENSP00000340554.6:p.Ala26586Val
ENST00000359218.10:c.79556C>T (TTN)	ENSP00000352154.5:p.Ala26519Val
ENST00000342175.10:c.79757C>T (TTN)	ENSP00000340554.6:p.Ala26586Val
ENST00000342992.10:c.98672C>T (TTN)	ENSP00000343764.6:p.Ala32891Val
ENST00000359218.9:c.79556C>T (TTN)	ENSP00000352154.5:p.Ala26519Val
ENST00000460472.6:c.79181C>T (TTN)	ENSP00000434586.1:p.Ala26394Val
ENST00000589042.5:c.106376C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala35459Val
ENST00000591111.5:c.101453C>T (TTN)	ENSP00000465570.1:p.Ala33818Val
ENST00000615779.4:c.101453C>T (TTN)	ENSP00000483597.1:p.Ala33818Val
NM_001256850.1:c.101453C>T (TTN)	NP_001243779.1:p.Ala33818Val
NM_001267550.2:c.106376C>T (TTN) MANE Select	NP_001254479.2:p.Ala35459Val
NM_003319.4:c.79181C>T (TTN)	NP_003310.4:p.Ala26394Val
NM_133378.4:c.98672C>T (TTN)	NP_596869.4:p.Ala32891Val
NM_133432.3:c.79556C>T (TTN)	NP_597676.3:p.Ala26519Val
NM_133437.4:c.79757C>T (TTN)	NP_597681.4:p.Ala26586Val
NR_038271.1:n.446+6479G>A (TTN-AS1)
NR_038272.1:n.220-5617G>A (TTN-AS1)
XM_011511729.1:c.105473C>T (TTN)	XP_011510031.1:p.Ala35158Val
XM_011511730.1:c.79367C>T (TTN)	XP_011510032.1:p.Ala26456Val
XM_011511731.1:c.79226C>T (TTN)	XP_011510033.1:p.Ala26409Val
XM_017004819.1:c.105269C>T (TTN)	XP_016860308.1:p.Ala35090Val
XM_017004820.1:c.100667C>T (TTN)	XP_016860309.1:p.Ala33556Val
XM_017004821.1:c.100664C>T (TTN)	XP_016860310.1:p.Ala33555Val
XM_017004822.1:c.97706C>T (TTN)	XP_016860311.1:p.Ala32569Val
XM_017004823.1:c.79322C>T (TTN)	XP_016860312.1:p.Ala26441Val
XM_024453094.1:c.100817C>T (TTN)	XP_024308862.1:p.Ala33606Val
XM_024453095.1:c.100814C>T (TTN)	XP_024308863.1:p.Ala33605Val
XM_024453096.1:c.100247C>T (TTN)	XP_024308864.1:p.Ala33416Val
XM_024453097.1:c.97589C>T (TTN)	XP_024308865.1:p.Ala32530Val
XM_024453098.1:c.97508C>T (TTN)	XP_024308866.1:p.Ala32503Val
XM_024453099.1:c.79271C>T (TTN)	XP_024308867.1:p.Ala26424Val
XM_024453100.1:c.69125C>T (TTN)	XP_024308868.1:p.Ala23042Val