Canonical Allele Identifier: CA273569

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 178936
• ClinVar RCV Id: RCV000155712 ; RCV000815550
• dbSNP Id: rs727504550
• MyVariant Identifiers: chr2:g.179404264C>T (hg19) ; chr2:g.178539537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178539537C>T , CM000664.2:g.178539537C>T	GRCh38
NC_000002.11:g.179404264C>T , CM000664.1:g.179404264C>T	GRCh37
NC_000002.10:g.179112510C>T	NCBI36
NG_011618.3:g.296266G>A , LRG_391:g.296266G>A
NG_051363.1:g.21711C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.90824G>A (TTN)	ENSP00000343764.6:p.Trp30275Ter
ENST00000342175.11:c.71909G>A (TTN)	ENSP00000340554.6:p.Trp23970Ter
ENST00000359218.10:c.71708G>A (TTN)	ENSP00000352154.5:p.Trp23903Ter
ENST00000342175.10:c.71909G>A (TTN)	ENSP00000340554.6:p.Trp23970Ter
ENST00000342992.10:c.90824G>A (TTN)	ENSP00000343764.6:p.Trp30275Ter
ENST00000359218.9:c.71708G>A (TTN)	ENSP00000352154.5:p.Trp23903Ter
ENST00000460472.6:c.71333G>A (TTN)	ENSP00000434586.1:p.Trp23778Ter
ENST00000589042.5:c.98528G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp32843Ter
ENST00000591111.5:c.93605G>A (TTN)	ENSP00000465570.1:p.Trp31202Ter
ENST00000615779.4:c.93605G>A (TTN)	ENSP00000483597.1:p.Trp31202Ter
NM_001256850.1:c.93605G>A (TTN)	NP_001243779.1:p.Trp31202Ter
NM_001267550.2:c.98528G>A (TTN) MANE Select	NP_001254479.2:p.Trp32843Ter
NM_003319.4:c.71333G>A (TTN)	NP_003310.4:p.Trp23778Ter
NM_133378.4:c.90824G>A (TTN)	NP_596869.4:p.Trp30275Ter
NM_133432.3:c.71708G>A (TTN)	NP_597676.3:p.Trp23903Ter
NM_133437.4:c.71909G>A (TTN)	NP_597681.4:p.Trp23970Ter
NR_038271.1:n.446+15901C>T (TTN-AS1)
NR_038272.1:n.1487C>T (TTN-AS1)
XM_011511729.1:c.97625G>A (TTN)	XP_011510031.1:p.Trp32542Ter
XM_011511730.1:c.71519G>A (TTN)	XP_011510032.1:p.Trp23840Ter
XM_011511731.1:c.71378G>A (TTN)	XP_011510033.1:p.Trp23793Ter
XM_017004819.1:c.97421G>A (TTN)	XP_016860308.1:p.Trp32474Ter
XM_017004820.1:c.92819G>A (TTN)	XP_016860309.1:p.Trp30940Ter
XM_017004821.1:c.92816G>A (TTN)	XP_016860310.1:p.Trp30939Ter
XM_017004822.1:c.89858G>A (TTN)	XP_016860311.1:p.Trp29953Ter
XM_017004823.1:c.71474G>A (TTN)	XP_016860312.1:p.Trp23825Ter
XM_024453094.1:c.92969G>A (TTN)	XP_024308862.1:p.Trp30990Ter
XM_024453095.1:c.92966G>A (TTN)	XP_024308863.1:p.Trp30989Ter
XM_024453096.1:c.92399G>A (TTN)	XP_024308864.1:p.Trp30800Ter
XM_024453097.1:c.89741G>A (TTN)	XP_024308865.1:p.Trp29914Ter
XM_024453098.1:c.89660G>A (TTN)	XP_024308866.1:p.Trp29887Ter
XM_024453099.1:c.71423G>A (TTN)	XP_024308867.1:p.Trp23808Ter
XM_024453100.1:c.61277G>A (TTN)	XP_024308868.1:p.Trp20426Ter