Canonical Allele Identifier: CA349490836

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 534962
• ClinVar RCV Id: RCV000642695 ; RCV002360579
• dbSNP Id: rs1553532356
• MyVariant Identifiers: chr2:g.179413556G>A (hg19) ; chr2:g.178548829G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548829G>A , CM000664.2:g.178548829G>A	GRCh38
NC_000002.11:g.179413556G>A , CM000664.1:g.179413556G>A	GRCh37
NC_000002.10:g.179121802G>A	NCBI36
NG_011618.3:g.286974C>T , LRG_391:g.286974C>T
NG_051363.1:g.31003G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.85093C>T (TTN)	ENSP00000343764.6:p.Gln28365Ter
ENST00000342175.11:c.66178C>T (TTN)	ENSP00000340554.6:p.Gln22060Ter
ENST00000359218.10:c.65977C>T (TTN)	ENSP00000352154.5:p.Gln21993Ter
ENST00000342175.10:c.66178C>T (TTN)	ENSP00000340554.6:p.Gln22060Ter
ENST00000342992.10:c.85093C>T (TTN)	ENSP00000343764.6:p.Gln28365Ter
ENST00000359218.9:c.65977C>T (TTN)	ENSP00000352154.5:p.Gln21993Ter
ENST00000460472.6:c.65602C>T (TTN)	ENSP00000434586.1:p.Gln21868Ter
ENST00000589042.5:c.92797C>T (TTN) MANE Select	ENSP00000467141.1:p.Gln30933Ter
ENST00000591111.5:c.87874C>T (TTN)	ENSP00000465570.1:p.Gln29292Ter
ENST00000615779.4:c.87874C>T (TTN)	ENSP00000483597.1:p.Gln29292Ter
NM_001256850.1:c.87874C>T (TTN)	NP_001243779.1:p.Gln29292Ter
NM_001267550.2:c.92797C>T (TTN) MANE Select	NP_001254479.2:p.Gln30933Ter
NM_003319.4:c.65602C>T (TTN)	NP_003310.4:p.Gln21868Ter
NM_133378.4:c.85093C>T (TTN)	NP_596869.4:p.Gln28365Ter
NM_133432.3:c.65977C>T (TTN)	NP_597676.3:p.Gln21993Ter
NM_133437.4:c.66178C>T (TTN)	NP_597681.4:p.Gln22060Ter
NR_038271.1:n.447-22471G>A (TTN-AS1)
NR_038272.1:n.2043+6468G>A (TTN-AS1)
XM_011511729.1:c.91894C>T (TTN)	XP_011510031.1:p.Gln30632Ter
XM_011511730.1:c.65788C>T (TTN)	XP_011510032.1:p.Gln21930Ter
XM_011511731.1:c.65647C>T (TTN)	XP_011510033.1:p.Gln21883Ter
XM_017004819.1:c.91690C>T (TTN)	XP_016860308.1:p.Gln30564Ter
XM_017004820.1:c.87088C>T (TTN)	XP_016860309.1:p.Gln29030Ter
XM_017004821.1:c.87085C>T (TTN)	XP_016860310.1:p.Gln29029Ter
XM_017004822.1:c.84127C>T (TTN)	XP_016860311.1:p.Gln28043Ter
XM_017004823.1:c.65743C>T (TTN)	XP_016860312.1:p.Gln21915Ter
XM_024453094.1:c.87238C>T (TTN)	XP_024308862.1:p.Gln29080Ter
XM_024453095.1:c.87235C>T (TTN)	XP_024308863.1:p.Gln29079Ter
XM_024453096.1:c.86668C>T (TTN)	XP_024308864.1:p.Gln28890Ter
XM_024453097.1:c.84010C>T (TTN)	XP_024308865.1:p.Gln28004Ter
XM_024453098.1:c.83929C>T (TTN)	XP_024308866.1:p.Gln27977Ter
XM_024453099.1:c.65692C>T (TTN)	XP_024308867.1:p.Gln21898Ter
XM_024453100.1:c.55546C>T (TTN)	XP_024308868.1:p.Gln18516Ter