Canonical Allele Identifier: CA16610437

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 404929
• ClinVar RCV Id: RCV000471106
• dbSNP Id: rs1060500500
• MyVariant Identifiers: chr2:g.179475819C>A (hg19) ; chr2:g.178611092C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178611092C>A , CM000664.2:g.178611092C>A	GRCh38
NC_000002.11:g.179475819C>A , CM000664.1:g.179475819C>A	GRCh37
NC_000002.10:g.179184064C>A	NCBI36
NG_011618.3:g.224711G>T , LRG_391:g.224711G>T
NG_051363.1:g.93266C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.43333G>T (TTN)	ENSP00000343764.6:p.Glu14445Ter
ENST00000342175.11:c.24418G>T (TTN)	ENSP00000340554.6:p.Glu8140Ter
ENST00000359218.10:c.24217G>T (TTN)	ENSP00000352154.5:p.Glu8073Ter
ENST00000342175.10:c.24418G>T (TTN)	ENSP00000340554.6:p.Glu8140Ter
ENST00000342992.10:c.43333G>T (TTN)	ENSP00000343764.6:p.Glu14445Ter
ENST00000359218.9:c.24217G>T (TTN)	ENSP00000352154.5:p.Glu8073Ter
ENST00000460472.6:c.23842G>T (TTN)	ENSP00000434586.1:p.Glu7948Ter
ENST00000589042.5:c.51037G>T (TTN) MANE Select	ENSP00000467141.1:p.Glu17013Ter
ENST00000591111.5:c.46114G>T (TTN)	ENSP00000465570.1:p.Glu15372Ter
ENST00000615779.4:c.46114G>T (TTN)	ENSP00000483597.1:p.Glu15372Ter
NM_001256850.1:c.46114G>T (TTN)	NP_001243779.1:p.Glu15372Ter
NM_001267550.2:c.51037G>T (TTN) MANE Select	NP_001254479.2:p.Glu17013Ter
NM_003319.4:c.23842G>T (TTN)	NP_003310.4:p.Glu7948Ter
NM_133378.4:c.43333G>T (TTN)	NP_596869.4:p.Glu14445Ter
NM_133432.3:c.24217G>T (TTN)	NP_597676.3:p.Glu8073Ter
NM_133437.4:c.24418G>T (TTN)	NP_597681.4:p.Glu8140Ter
NR_038271.1:n.782+2826C>A (TTN-AS1)
XM_011511729.1:c.50134G>T (TTN)	XP_011510031.1:p.Glu16712Ter
XM_011511730.1:c.24028G>T (TTN)	XP_011510032.1:p.Glu8010Ter
XM_011511731.1:c.23887G>T (TTN)	XP_011510033.1:p.Glu7963Ter
XM_017004819.1:c.49930G>T (TTN)	XP_016860308.1:p.Glu16644Ter
XM_017004820.1:c.45328G>T (TTN)	XP_016860309.1:p.Glu15110Ter
XM_017004821.1:c.45325G>T (TTN)	XP_016860310.1:p.Glu15109Ter
XM_017004822.1:c.42367G>T (TTN)	XP_016860311.1:p.Glu14123Ter
XM_017004823.1:c.23983G>T (TTN)	XP_016860312.1:p.Glu7995Ter
XM_024453094.1:c.45478G>T (TTN)	XP_024308862.1:p.Glu15160Ter
XM_024453095.1:c.45475G>T (TTN)	XP_024308863.1:p.Glu15159Ter
XM_024453096.1:c.44908G>T (TTN)	XP_024308864.1:p.Glu14970Ter
XM_024453097.1:c.42250G>T (TTN)	XP_024308865.1:p.Glu14084Ter
XM_024453098.1:c.42169G>T (TTN)	XP_024308866.1:p.Glu14057Ter
XM_024453099.1:c.23932G>T (TTN)	XP_024308867.1:p.Glu7978Ter
XM_024453100.1:c.13786G>T (TTN)	XP_024308868.1:p.Glu4596Ter