Canonical Allele Identifier: CA349625004

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 431883
• ClinVar RCV Id: RCV000497570 ; RCV001044433
• dbSNP Id: rs1553603394
• COSMIC: COSM1011291 ; COSM1011293 ; COSM1011294 ; COSM1291362
• MyVariant Identifiers: chr2:g.179435390G>A (hg19) ; chr2:g.178570663G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570663G>A , CM000664.2:g.178570663G>A	GRCh38
NC_000002.11:g.179435390G>A , CM000664.1:g.179435390G>A	GRCh37
NC_000002.10:g.179143636G>A	NCBI36
NG_011618.3:g.265140C>T , LRG_391:g.265140C>T
NG_051363.1:g.52837G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67765C>T (TTN)	ENSP00000343764.6:p.Arg22589Ter
ENST00000342175.11:c.48850C>T (TTN)	ENSP00000340554.6:p.Arg16284Ter
ENST00000359218.10:c.48649C>T (TTN)	ENSP00000352154.5:p.Arg16217Ter
ENST00000342175.10:c.48850C>T (TTN)	ENSP00000340554.6:p.Arg16284Ter
ENST00000342992.10:c.67765C>T (TTN)	ENSP00000343764.6:p.Arg22589Ter
ENST00000359218.9:c.48649C>T (TTN)	ENSP00000352154.5:p.Arg16217Ter
ENST00000460472.6:c.48274C>T (TTN)	ENSP00000434586.1:p.Arg16092Ter
ENST00000589042.5:c.75469C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg25157Ter
ENST00000591111.5:c.70546C>T (TTN)	ENSP00000465570.1:p.Arg23516Ter
ENST00000615779.4:c.70546C>T (TTN)	ENSP00000483597.1:p.Arg23516Ter
NM_001256850.1:c.70546C>T (TTN)	NP_001243779.1:p.Arg23516Ter
NM_001267550.2:c.75469C>T (TTN) MANE Select	NP_001254479.2:p.Arg25157Ter
NM_003319.4:c.48274C>T (TTN)	NP_003310.4:p.Arg16092Ter
NM_133378.4:c.67765C>T (TTN)	NP_596869.4:p.Arg22589Ter
NM_133432.3:c.48649C>T (TTN)	NP_597676.3:p.Arg16217Ter
NM_133437.4:c.48850C>T (TTN)	NP_597681.4:p.Arg16284Ter
NR_038271.1:n.447-637G>A (TTN-AS1)
NR_038272.1:n.2044-11909G>A (TTN-AS1)
XM_011511729.1:c.74566C>T (TTN)	XP_011510031.1:p.Arg24856Ter
XM_011511730.1:c.48460C>T (TTN)	XP_011510032.1:p.Arg16154Ter
XM_011511731.1:c.48319C>T (TTN)	XP_011510033.1:p.Arg16107Ter
XM_017004819.1:c.74362C>T (TTN)	XP_016860308.1:p.Arg24788Ter
XM_017004820.1:c.69760C>T (TTN)	XP_016860309.1:p.Arg23254Ter
XM_017004821.1:c.69757C>T (TTN)	XP_016860310.1:p.Arg23253Ter
XM_017004822.1:c.66799C>T (TTN)	XP_016860311.1:p.Arg22267Ter
XM_017004823.1:c.48415C>T (TTN)	XP_016860312.1:p.Arg16139Ter
XM_024453094.1:c.69910C>T (TTN)	XP_024308862.1:p.Arg23304Ter
XM_024453095.1:c.69907C>T (TTN)	XP_024308863.1:p.Arg23303Ter
XM_024453096.1:c.69340C>T (TTN)	XP_024308864.1:p.Arg23114Ter
XM_024453097.1:c.66682C>T (TTN)	XP_024308865.1:p.Arg22228Ter
XM_024453098.1:c.66601C>T (TTN)	XP_024308866.1:p.Arg22201Ter
XM_024453099.1:c.48364C>T (TTN)	XP_024308867.1:p.Arg16122Ter
XM_024453100.1:c.38218C>T (TTN)	XP_024308868.1:p.Arg12740Ter