Canonical Allele Identifier: CA353360

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 223291
• ClinVar RCV Id: RCV000209657 ; RCV001376974
• dbSNP Id: rs869312057
• MyVariant Identifiers: chr2:g.179432675C>A (hg19) ; chr2:g.178567948C>A (hg38)
• PubMed: PMID:25589632

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567948C>A , CM000664.2:g.178567948C>A	GRCh38
NC_000002.11:g.179432675C>A , CM000664.1:g.179432675C>A	GRCh37
NC_000002.10:g.179140921C>A	NCBI36
NG_011618.3:g.267855G>T , LRG_391:g.267855G>T
NG_051363.1:g.50122C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.70480G>T (TTN)	ENSP00000343764.6:p.Glu23494Ter
ENST00000342175.11:c.51565G>T (TTN)	ENSP00000340554.6:p.Glu17189Ter
ENST00000359218.10:c.51364G>T (TTN)	ENSP00000352154.5:p.Glu17122Ter
ENST00000342175.10:c.51565G>T (TTN)	ENSP00000340554.6:p.Glu17189Ter
ENST00000342992.10:c.70480G>T (TTN)	ENSP00000343764.6:p.Glu23494Ter
ENST00000359218.9:c.51364G>T (TTN)	ENSP00000352154.5:p.Glu17122Ter
ENST00000460472.6:c.50989G>T (TTN)	ENSP00000434586.1:p.Glu16997Ter
ENST00000589042.5:c.78184G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu26062Ter
ENST00000591111.5:c.73261G>T (TTN)	ENSP00000465570.1:p.Glu24421Ter
ENST00000615779.4:c.73261G>T (TTN)	ENSP00000483597.1:p.Glu24421Ter
NM_001256850.1:c.73261G>T (TTN)	NP_001243779.1:p.Glu24421Ter
NM_001267550.2:c.78184G>T (TTN) MANE Select	NP_001254479.2:p.Glu26062Ter
NM_003319.4:c.50989G>T (TTN)	NP_003310.4:p.Glu16997Ter
NM_133378.4:c.70480G>T (TTN)	NP_596869.4:p.Glu23494Ter
NM_133432.3:c.51364G>T (TTN)	NP_597676.3:p.Glu17122Ter
NM_133437.4:c.51565G>T (TTN)	NP_597681.4:p.Glu17189Ter
NR_038271.1:n.447-3352C>A (TTN-AS1)
NR_038272.1:n.2044-14624C>A (TTN-AS1)
XM_011511729.1:c.77281G>T (TTN)	XP_011510031.1:p.Glu25761Ter
XM_011511730.1:c.51175G>T (TTN)	XP_011510032.1:p.Glu17059Ter
XM_011511731.1:c.51034G>T (TTN)	XP_011510033.1:p.Glu17012Ter
XM_017004819.1:c.77077G>T (TTN)	XP_016860308.1:p.Glu25693Ter
XM_017004820.1:c.72475G>T (TTN)	XP_016860309.1:p.Glu24159Ter
XM_017004821.1:c.72472G>T (TTN)	XP_016860310.1:p.Glu24158Ter
XM_017004822.1:c.69514G>T (TTN)	XP_016860311.1:p.Glu23172Ter
XM_017004823.1:c.51130G>T (TTN)	XP_016860312.1:p.Glu17044Ter
XM_024453094.1:c.72625G>T (TTN)	XP_024308862.1:p.Glu24209Ter
XM_024453095.1:c.72622G>T (TTN)	XP_024308863.1:p.Glu24208Ter
XM_024453096.1:c.72055G>T (TTN)	XP_024308864.1:p.Glu24019Ter
XM_024453097.1:c.69397G>T (TTN)	XP_024308865.1:p.Glu23133Ter
XM_024453098.1:c.69316G>T (TTN)	XP_024308866.1:p.Glu23106Ter
XM_024453099.1:c.51079G>T (TTN)	XP_024308867.1:p.Glu17027Ter
XM_024453100.1:c.40933G>T (TTN)	XP_024308868.1:p.Glu13645Ter