Canonical Allele Identifier: CA2499215432

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 1082034
• ClinVar RCV Id: RCV001398205
• dbSNP Id: rs2154201383
• gnomAD v4: 2-178613947-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613947G>A , CM000664.2:g.178613947G>A	GRCh38
NC_000002.11:g.179478674G>A , CM000664.1:g.179478674G>A	GRCh37
NC_000002.10:g.179186919G>A	NCBI36
NG_011618.3:g.221856C>T , LRG_391:g.221856C>T
NG_051363.1:g.96121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.41642-10C>T (TTN)	ENSP00000343764.6:n.41642-10C>T
ENST00000342175.11:c.22727-10C>T (TTN)	ENSP00000340554.6:n.22727-10C>T
ENST00000359218.10:c.22526-10C>T (TTN)	ENSP00000352154.5:n.22526-10C>T
ENST00000342175.10:c.22727-10C>T (TTN)	ENSP00000340554.6:n.22727-10C>T
ENST00000342992.10:c.41642-10C>T (TTN)	ENSP00000343764.6:n.41642-10C>T
ENST00000359218.9:c.22526-10C>T (TTN)	ENSP00000352154.5:n.22526-10C>T
ENST00000460472.6:c.22151-10C>T (TTN)	ENSP00000434586.1:n.22151-10C>T
ENST00000589042.5:c.49346-10C>T (TTN) MANE Select	ENSP00000467141.1:n.49346-10C>T
ENST00000591111.5:c.44423-10C>T (TTN)	ENSP00000465570.1:n.44423-10C>T
ENST00000615779.4:c.44423-10C>T (TTN)	ENSP00000483597.1:n.44423-10C>T
NM_001256850.1:c.44423-10C>T (TTN)	NP_001243779.1:n.44423-10C>T
NM_001267550.2:c.49346-10C>T (TTN) MANE Select	NP_001254479.2:n.49346-10C>T
NM_003319.4:c.22151-10C>T (TTN)	NP_003310.4:n.22151-10C>T
NM_133378.4:c.41642-10C>T (TTN)	NP_596869.4:n.41642-10C>T
NM_133432.3:c.22526-10C>T (TTN)	NP_597676.3:n.22526-10C>T
NM_133437.4:c.22727-10C>T (TTN)	NP_597681.4:n.22727-10C>T
NR_038271.1:n.783-88G>A (TTN-AS1)
XM_011511729.1:c.48443-10C>T (TTN)	XP_011510031.1:n.48443-10C>T
XM_011511730.1:c.22337-10C>T (TTN)	XP_011510032.1:n.22337-10C>T
XM_011511731.1:c.22196-10C>T (TTN)	XP_011510033.1:n.22196-10C>T
XM_017004819.1:c.48239-10C>T (TTN)	XP_016860308.1:n.48239-10C>T
XM_017004820.1:c.43637-10C>T (TTN)	XP_016860309.1:n.43637-10C>T
XM_017004821.1:c.43634-10C>T (TTN)	XP_016860310.1:n.43634-10C>T
XM_017004822.1:c.40676-10C>T (TTN)	XP_016860311.1:n.40676-10C>T
XM_017004823.1:c.22292-10C>T (TTN)	XP_016860312.1:n.22292-10C>T
XM_024453094.1:c.43787-10C>T (TTN)	XP_024308862.1:n.43787-10C>T
XM_024453095.1:c.43784-10C>T (TTN)	XP_024308863.1:n.43784-10C>T
XM_024453096.1:c.43217-10C>T (TTN)	XP_024308864.1:n.43217-10C>T
XM_024453097.1:c.40559-10C>T (TTN)	XP_024308865.1:n.40559-10C>T
XM_024453098.1:c.40478-10C>T (TTN)	XP_024308866.1:n.40478-10C>T
XM_024453099.1:c.22241-10C>T (TTN)	XP_024308867.1:n.22241-10C>T
XM_024453100.1:c.12095-10C>T (TTN)	XP_024308868.1:n.12095-10C>T