Canonical Allele Identifier: CA16610352

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 405009
• ClinVar RCV Id: RCV000458129 ; RCV003362790
• dbSNP Id: rs1060500526
• MyVariant Identifiers: chr2:g.179463645C>T (hg19) ; chr2:g.178598918C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178598918C>T , CM000664.2:g.178598918C>T	GRCh38
NC_000002.11:g.179463645C>T , CM000664.1:g.179463645C>T	GRCh37
NC_000002.10:g.179171890C>T	NCBI36
NG_011618.3:g.236885G>A , LRG_391:g.236885G>A
NG_051363.1:g.81092C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.49088G>A (TTN)	ENSP00000343764.6:p.Trp16363Ter
ENST00000342175.11:c.30173G>A (TTN)	ENSP00000340554.6:p.Trp10058Ter
ENST00000359218.10:c.29972G>A (TTN)	ENSP00000352154.5:p.Trp9991Ter
ENST00000342175.10:c.30173G>A (TTN)	ENSP00000340554.6:p.Trp10058Ter
ENST00000342992.10:c.49088G>A (TTN)	ENSP00000343764.6:p.Trp16363Ter
ENST00000359218.9:c.29972G>A (TTN)	ENSP00000352154.5:p.Trp9991Ter
ENST00000460472.6:c.29597G>A (TTN)	ENSP00000434586.1:p.Trp9866Ter
ENST00000589042.5:c.56792G>A (TTN) MANE Select	ENSP00000467141.1:p.Trp18931Ter
ENST00000591111.5:c.51869G>A (TTN)	ENSP00000465570.1:p.Trp17290Ter
ENST00000615779.4:c.51869G>A (TTN)	ENSP00000483597.1:p.Trp17290Ter
NM_001256850.1:c.51869G>A (TTN)	NP_001243779.1:p.Trp17290Ter
NM_001267550.2:c.56792G>A (TTN) MANE Select	NP_001254479.2:p.Trp18931Ter
NM_003319.4:c.29597G>A (TTN)	NP_003310.4:p.Trp9866Ter
NM_133378.4:c.49088G>A (TTN)	NP_596869.4:p.Trp16363Ter
NM_133432.3:c.29972G>A (TTN)	NP_597676.3:p.Trp9991Ter
NM_133437.4:c.30173G>A (TTN)	NP_597681.4:p.Trp10058Ter
NR_038271.1:n.682+1237C>T (TTN-AS1)
NR_038272.1:n.3568+245C>T (TTN-AS1)
XM_011511729.1:c.55889G>A (TTN)	XP_011510031.1:p.Trp18630Ter
XM_011511730.1:c.29783G>A (TTN)	XP_011510032.1:p.Trp9928Ter
XM_011511731.1:c.29642G>A (TTN)	XP_011510033.1:p.Trp9881Ter
XM_017004819.1:c.55685G>A (TTN)	XP_016860308.1:p.Trp18562Ter
XM_017004820.1:c.51083G>A (TTN)	XP_016860309.1:p.Trp17028Ter
XM_017004821.1:c.51080G>A (TTN)	XP_016860310.1:p.Trp17027Ter
XM_017004822.1:c.48122G>A (TTN)	XP_016860311.1:p.Trp16041Ter
XM_017004823.1:c.29738G>A (TTN)	XP_016860312.1:p.Trp9913Ter
XM_024453094.1:c.51233G>A (TTN)	XP_024308862.1:p.Trp17078Ter
XM_024453095.1:c.51230G>A (TTN)	XP_024308863.1:p.Trp17077Ter
XM_024453096.1:c.50663G>A (TTN)	XP_024308864.1:p.Trp16888Ter
XM_024453097.1:c.48005G>A (TTN)	XP_024308865.1:p.Trp16002Ter
XM_024453098.1:c.47924G>A (TTN)	XP_024308866.1:p.Trp15975Ter
XM_024453099.1:c.29687G>A (TTN)	XP_024308867.1:p.Trp9896Ter
XM_024453100.1:c.19541G>A (TTN)	XP_024308868.1:p.Trp6514Ter