Canonical Allele Identifier: CA349479477

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs766974366
• MyVariant Identifiers: chr2:g.179455661A>C (hg19) ; chr2:g.178590934A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590934A>C , CM000664.2:g.178590934A>C	GRCh38
NC_000002.11:g.179455661A>C , CM000664.1:g.179455661A>C	GRCh37
NC_000002.10:g.179163907A>C	NCBI36
NG_011618.3:g.244869T>G , LRG_391:g.244869T>G
NG_051363.1:g.73108A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.53087T>G (TTN)	ENSP00000343764.6:p.Val17696Gly
ENST00000342175.11:c.34172T>G (TTN)	ENSP00000340554.6:p.Val11391Gly
ENST00000359218.10:c.33971T>G (TTN)	ENSP00000352154.5:p.Val11324Gly
ENST00000342175.10:c.34172T>G (TTN)	ENSP00000340554.6:p.Val11391Gly
ENST00000342992.10:c.53087T>G (TTN)	ENSP00000343764.6:p.Val17696Gly
ENST00000359218.9:c.33971T>G (TTN)	ENSP00000352154.5:p.Val11324Gly
ENST00000460472.6:c.33596T>G (TTN)	ENSP00000434586.1:p.Val11199Gly
ENST00000589042.5:c.60791T>G (TTN) MANE Select	ENSP00000467141.1:p.Val20264Gly
ENST00000591111.5:c.55868T>G (TTN)	ENSP00000465570.1:p.Val18623Gly
ENST00000615779.4:c.55868T>G (TTN)	ENSP00000483597.1:p.Val18623Gly
NM_001256850.1:c.55868T>G (TTN)	NP_001243779.1:p.Val18623Gly
NM_001267550.2:c.60791T>G (TTN) MANE Select	NP_001254479.2:p.Val20264Gly
NM_003319.4:c.33596T>G (TTN)	NP_003310.4:p.Val11199Gly
NM_133378.4:c.53087T>G (TTN)	NP_596869.4:p.Val17696Gly
NM_133432.3:c.33971T>G (TTN)	NP_597676.3:p.Val11324Gly
NM_133437.4:c.34172T>G (TTN)	NP_597681.4:p.Val11391Gly
NR_038271.1:n.597-6662A>C (TTN-AS1)
NR_038272.1:n.3189-205A>C (TTN-AS1)
XM_011511729.1:c.59888T>G (TTN)	XP_011510031.1:p.Val19963Gly
XM_011511730.1:c.33782T>G (TTN)	XP_011510032.1:p.Val11261Gly
XM_011511731.1:c.33641T>G (TTN)	XP_011510033.1:p.Val11214Gly
XM_017004819.1:c.59684T>G (TTN)	XP_016860308.1:p.Val19895Gly
XM_017004820.1:c.55082T>G (TTN)	XP_016860309.1:p.Val18361Gly
XM_017004821.1:c.55079T>G (TTN)	XP_016860310.1:p.Val18360Gly
XM_017004822.1:c.52121T>G (TTN)	XP_016860311.1:p.Val17374Gly
XM_017004823.1:c.33737T>G (TTN)	XP_016860312.1:p.Val11246Gly
XM_024453094.1:c.55232T>G (TTN)	XP_024308862.1:p.Val18411Gly
XM_024453095.1:c.55229T>G (TTN)	XP_024308863.1:p.Val18410Gly
XM_024453096.1:c.54662T>G (TTN)	XP_024308864.1:p.Val18221Gly
XM_024453097.1:c.52004T>G (TTN)	XP_024308865.1:p.Val17335Gly
XM_024453098.1:c.51923T>G (TTN)	XP_024308866.1:p.Val17308Gly
XM_024453099.1:c.33686T>G (TTN)	XP_024308867.1:p.Val11229Gly
XM_024453100.1:c.23540T>G (TTN)	XP_024308868.1:p.Val7847Gly