Canonical Allele Identifier: CA349411489

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535030
• ClinVar RCV Id: RCV000642787 ; RCV001784217 ; RCV002397233 ; RCV003486902
• dbSNP Id: rs1553488049
• gnomAD v4: 2-178532100-G-A
• COSMIC: COSM1010198 ; COSM1010200 ; COSM1010201 ; COSM1231208
• MyVariant Identifiers: chr2:g.179396827G>A (hg19) ; chr2:g.178532100G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178532100G>A , CM000664.2:g.178532100G>A	GRCh38
NC_000002.11:g.179396827G>A , CM000664.1:g.179396827G>A	GRCh37
NC_000002.10:g.179105073G>A	NCBI36
NG_011618.3:g.303703C>T , LRG_391:g.303703C>T
NG_051363.1:g.14274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.96811C>T (TTN)	ENSP00000343764.6:p.Arg32271Ter
ENST00000342175.11:c.77896C>T (TTN)	ENSP00000340554.6:p.Arg25966Ter
ENST00000359218.10:c.77695C>T (TTN)	ENSP00000352154.5:p.Arg25899Ter
ENST00000342175.10:c.77896C>T (TTN)	ENSP00000340554.6:p.Arg25966Ter
ENST00000342992.10:c.96811C>T (TTN)	ENSP00000343764.6:p.Arg32271Ter
ENST00000359218.9:c.77695C>T (TTN)	ENSP00000352154.5:p.Arg25899Ter
ENST00000460472.6:c.77320C>T (TTN)	ENSP00000434586.1:p.Arg25774Ter
ENST00000589042.5:c.104515C>T (TTN) MANE Select	ENSP00000467141.1:p.Arg34839Ter
ENST00000591111.5:c.99592C>T (TTN)	ENSP00000465570.1:p.Arg33198Ter
ENST00000615779.4:c.99592C>T (TTN)	ENSP00000483597.1:p.Arg33198Ter
NM_001256850.1:c.99592C>T (TTN)	NP_001243779.1:p.Arg33198Ter
NM_001267550.2:c.104515C>T (TTN) MANE Select	NP_001254479.2:p.Arg34839Ter
NM_003319.4:c.77320C>T (TTN)	NP_003310.4:p.Arg25774Ter
NM_133378.4:c.96811C>T (TTN)	NP_596869.4:p.Arg32271Ter
NM_133432.3:c.77695C>T (TTN)	NP_597676.3:p.Arg25899Ter
NM_133437.4:c.77896C>T (TTN)	NP_597681.4:p.Arg25966Ter
NR_038271.1:n.446+8464G>A (TTN-AS1)
NR_038272.1:n.220-3632G>A (TTN-AS1)
XM_011511729.1:c.103612C>T (TTN)	XP_011510031.1:p.Arg34538Ter
XM_011511730.1:c.77506C>T (TTN)	XP_011510032.1:p.Arg25836Ter
XM_011511731.1:c.77365C>T (TTN)	XP_011510033.1:p.Arg25789Ter
XM_017004819.1:c.103408C>T (TTN)	XP_016860308.1:p.Arg34470Ter
XM_017004820.1:c.98806C>T (TTN)	XP_016860309.1:p.Arg32936Ter
XM_017004821.1:c.98803C>T (TTN)	XP_016860310.1:p.Arg32935Ter
XM_017004822.1:c.95845C>T (TTN)	XP_016860311.1:p.Arg31949Ter
XM_017004823.1:c.77461C>T (TTN)	XP_016860312.1:p.Arg25821Ter
XM_024453094.1:c.98956C>T (TTN)	XP_024308862.1:p.Arg32986Ter
XM_024453095.1:c.98953C>T (TTN)	XP_024308863.1:p.Arg32985Ter
XM_024453096.1:c.98386C>T (TTN)	XP_024308864.1:p.Arg32796Ter
XM_024453097.1:c.95728C>T (TTN)	XP_024308865.1:p.Arg31910Ter
XM_024453098.1:c.95647C>T (TTN)	XP_024308866.1:p.Arg31883Ter
XM_024453099.1:c.77410C>T (TTN)	XP_024308867.1:p.Arg25804Ter
XM_024453100.1:c.67264C>T (TTN)	XP_024308868.1:p.Arg22422Ter