Canonical Allele Identifier: CA349484513

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 466647
• ClinVar RCV Id: RCV000535768 ; RCV004537975
• dbSNP Id: rs1553644047
• MyVariant Identifiers: chr2:g.179456005A>C (hg19) ; chr2:g.178591278A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591278A>C , CM000664.2:g.178591278A>C	GRCh38
NC_000002.11:g.179456005A>C , CM000664.1:g.179456005A>C	GRCh37
NC_000002.10:g.179164251A>C	NCBI36
NG_011618.3:g.244525T>G , LRG_391:g.244525T>G
NG_051363.1:g.73452A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52743T>G (TTN)	ENSP00000343764.6:p.Tyr17581Ter
ENST00000342175.11:c.33828T>G (TTN)	ENSP00000340554.6:p.Tyr11276Ter
ENST00000359218.10:c.33627T>G (TTN)	ENSP00000352154.5:p.Tyr11209Ter
ENST00000342175.10:c.33828T>G (TTN)	ENSP00000340554.6:p.Tyr11276Ter
ENST00000342992.10:c.52743T>G (TTN)	ENSP00000343764.6:p.Tyr17581Ter
ENST00000359218.9:c.33627T>G (TTN)	ENSP00000352154.5:p.Tyr11209Ter
ENST00000460472.6:c.33252T>G (TTN)	ENSP00000434586.1:p.Tyr11084Ter
ENST00000589042.5:c.60447T>G (TTN) MANE Select	ENSP00000467141.1:p.Tyr20149Ter
ENST00000591111.5:c.55524T>G (TTN)	ENSP00000465570.1:p.Tyr18508Ter
ENST00000615779.4:c.55524T>G (TTN)	ENSP00000483597.1:p.Tyr18508Ter
NM_001256850.1:c.55524T>G (TTN)	NP_001243779.1:p.Tyr18508Ter
NM_001267550.2:c.60447T>G (TTN) MANE Select	NP_001254479.2:p.Tyr20149Ter
NM_003319.4:c.33252T>G (TTN)	NP_003310.4:p.Tyr11084Ter
NM_133378.4:c.52743T>G (TTN)	NP_596869.4:p.Tyr17581Ter
NM_133432.3:c.33627T>G (TTN)	NP_597676.3:p.Tyr11209Ter
NM_133437.4:c.33828T>G (TTN)	NP_597681.4:p.Tyr11276Ter
NR_038271.1:n.597-6318A>C (TTN-AS1)
NR_038272.1:n.3328A>C (TTN-AS1)
XM_011511729.1:c.59544T>G (TTN)	XP_011510031.1:p.Tyr19848Ter
XM_011511730.1:c.33438T>G (TTN)	XP_011510032.1:p.Tyr11146Ter
XM_011511731.1:c.33297T>G (TTN)	XP_011510033.1:p.Tyr11099Ter
XM_017004819.1:c.59340T>G (TTN)	XP_016860308.1:p.Tyr19780Ter
XM_017004820.1:c.54738T>G (TTN)	XP_016860309.1:p.Tyr18246Ter
XM_017004821.1:c.54735T>G (TTN)	XP_016860310.1:p.Tyr18245Ter
XM_017004822.1:c.51777T>G (TTN)	XP_016860311.1:p.Tyr17259Ter
XM_017004823.1:c.33393T>G (TTN)	XP_016860312.1:p.Tyr11131Ter
XM_024453094.1:c.54888T>G (TTN)	XP_024308862.1:p.Tyr18296Ter
XM_024453095.1:c.54885T>G (TTN)	XP_024308863.1:p.Tyr18295Ter
XM_024453096.1:c.54318T>G (TTN)	XP_024308864.1:p.Tyr18106Ter
XM_024453097.1:c.51660T>G (TTN)	XP_024308865.1:p.Tyr17220Ter
XM_024453098.1:c.51579T>G (TTN)	XP_024308866.1:p.Tyr17193Ter
XM_024453099.1:c.33342T>G (TTN)	XP_024308867.1:p.Tyr11114Ter
XM_024453100.1:c.23196T>G (TTN)	XP_024308868.1:p.Tyr7732Ter