Canonical Allele Identifier: CA1991092

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 534990
• ClinVar RCV Id: RCV000642737 ; RCV001584480 ; RCV001798938 ; RCV002331178
• dbSNP Id: rs372075439
• ExAC: 2:179442729 G / A
• gnomAD v2: 2-179442729-G-A
• gnomAD v3: 2-178578002-G-A
• gnomAD v4: 2-178578002-G-A
• MyVariant Identifiers: chr2:g.179442729G>A (hg19) ; chr2:g.178578002G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178578002G>A , CM000664.2:g.178578002G>A	GRCh38
NC_000002.11:g.179442729G>A , CM000664.1:g.179442729G>A	GRCh37
NC_000002.10:g.179150975G>A	NCBI36
NG_011618.3:g.257801C>T , LRG_391:g.257801C>T
NG_051363.1:g.60176G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.60809C>T (TTN)	ENSP00000343764.6:p.Ala20270Val
ENST00000342175.11:c.41894C>T (TTN)	ENSP00000340554.6:p.Ala13965Val
ENST00000359218.10:c.41693C>T (TTN)	ENSP00000352154.5:p.Ala13898Val
ENST00000342175.10:c.41894C>T (TTN)	ENSP00000340554.6:p.Ala13965Val
ENST00000342992.10:c.60809C>T (TTN)	ENSP00000343764.6:p.Ala20270Val
ENST00000359218.9:c.41693C>T (TTN)	ENSP00000352154.5:p.Ala13898Val
ENST00000460472.6:c.41318C>T (TTN)	ENSP00000434586.1:p.Ala13773Val
ENST00000589042.5:c.68513C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala22838Val
ENST00000591111.5:c.63590C>T (TTN)	ENSP00000465570.1:p.Ala21197Val
ENST00000615779.4:c.63590C>T (TTN)	ENSP00000483597.1:p.Ala21197Val
NM_001256850.1:c.63590C>T (TTN)	NP_001243779.1:p.Ala21197Val
NM_001267550.2:c.68513C>T (TTN) MANE Select	NP_001254479.2:p.Ala22838Val
NM_003319.4:c.41318C>T (TTN)	NP_003310.4:p.Ala13773Val
NM_133378.4:c.60809C>T (TTN)	NP_596869.4:p.Ala20270Val
NM_133432.3:c.41693C>T (TTN)	NP_597676.3:p.Ala13898Val
NM_133437.4:c.41894C>T (TTN)	NP_597681.4:p.Ala13965Val
NR_038271.1:n.596+6553G>A (TTN-AS1)
NR_038272.1:n.2044-4570G>A (TTN-AS1)
XM_011511729.1:c.67610C>T (TTN)	XP_011510031.1:p.Ala22537Val
XM_011511730.1:c.41504C>T (TTN)	XP_011510032.1:p.Ala13835Val
XM_011511731.1:c.41363C>T (TTN)	XP_011510033.1:p.Ala13788Val
XM_017004819.1:c.67406C>T (TTN)	XP_016860308.1:p.Ala22469Val
XM_017004820.1:c.62804C>T (TTN)	XP_016860309.1:p.Ala20935Val
XM_017004821.1:c.62801C>T (TTN)	XP_016860310.1:p.Ala20934Val
XM_017004822.1:c.59843C>T (TTN)	XP_016860311.1:p.Ala19948Val
XM_017004823.1:c.41459C>T (TTN)	XP_016860312.1:p.Ala13820Val
XM_024453094.1:c.62954C>T (TTN)	XP_024308862.1:p.Ala20985Val
XM_024453095.1:c.62951C>T (TTN)	XP_024308863.1:p.Ala20984Val
XM_024453096.1:c.62384C>T (TTN)	XP_024308864.1:p.Ala20795Val
XM_024453097.1:c.59726C>T (TTN)	XP_024308865.1:p.Ala19909Val
XM_024453098.1:c.59645C>T (TTN)	XP_024308866.1:p.Ala19882Val
XM_024453099.1:c.41408C>T (TTN)	XP_024308867.1:p.Ala13803Val
XM_024453100.1:c.31262C>T (TTN)	XP_024308868.1:p.Ala10421Val