Canonical Allele Identifier: CA1993116

Gene: TTN TTN-AS1

Linked Data

• ClinVar Variation Id: 535744
• ClinVar RCV Id: RCV000643912
• dbSNP Id: rs751290837
• ExAC: 2:179463272 G / A
• gnomAD v2: 2-179463272-G-A
• gnomAD v4: 2-178598545-G-A
• MyVariant Identifiers: chr2:g.179463272G>A (hg19) ; chr2:g.178598545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178598545G>A , CM000664.2:g.178598545G>A	GRCh38
NC_000002.11:g.179463272G>A , CM000664.1:g.179463272G>A	GRCh37
NC_000002.10:g.179171517G>A	NCBI36
NG_011618.3:g.237258C>T , LRG_391:g.237258C>T
NG_051363.1:g.80719G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.49368C>T (TTN)	ENSP00000343764.6:p.Ile16456=
ENST00000342175.11:c.30453C>T (TTN)	ENSP00000340554.6:p.Ile10151=
ENST00000359218.10:c.30252C>T (TTN)	ENSP00000352154.5:p.Ile10084=
ENST00000342175.10:c.30453C>T (TTN)	ENSP00000340554.6:p.Ile10151=
ENST00000342992.10:c.49368C>T (TTN)	ENSP00000343764.6:p.Ile16456=
ENST00000359218.9:c.30252C>T (TTN)	ENSP00000352154.5:p.Ile10084=
ENST00000460472.6:c.29877C>T (TTN)	ENSP00000434586.1:p.Ile9959=
ENST00000589042.5:c.57072C>T (TTN) MANE Select	ENSP00000467141.1:p.Ile19024=
ENST00000591111.5:c.52149C>T (TTN)	ENSP00000465570.1:p.Ile17383=
ENST00000615779.4:c.52149C>T (TTN)	ENSP00000483597.1:p.Ile17383=
NM_001256850.1:c.52149C>T (TTN)	NP_001243779.1:p.Ile17383=
NM_001267550.2:c.57072C>T (TTN) MANE Select	NP_001254479.2:p.Ile19024=
NM_003319.4:c.29877C>T (TTN)	NP_003310.4:p.Ile9959=
NM_133378.4:c.49368C>T (TTN)	NP_596869.4:p.Ile16456=
NM_133432.3:c.30252C>T (TTN)	NP_597676.3:p.Ile10084=
NM_133437.4:c.30453C>T (TTN)	NP_597681.4:p.Ile10151=
NR_038271.1:n.682+864G>A (TTN-AS1)
NR_038272.1:n.3451-11G>A (TTN-AS1)
XM_011511729.1:c.56169C>T (TTN)	XP_011510031.1:p.Ile18723=
XM_011511730.1:c.30063C>T (TTN)	XP_011510032.1:p.Ile10021=
XM_011511731.1:c.29922C>T (TTN)	XP_011510033.1:p.Ile9974=
XM_017004819.1:c.55965C>T (TTN)	XP_016860308.1:p.Ile18655=
XM_017004820.1:c.51363C>T (TTN)	XP_016860309.1:p.Ile17121=
XM_017004821.1:c.51360C>T (TTN)	XP_016860310.1:p.Ile17120=
XM_017004822.1:c.48402C>T (TTN)	XP_016860311.1:p.Ile16134=
XM_017004823.1:c.30018C>T (TTN)	XP_016860312.1:p.Ile10006=
XM_024453094.1:c.51513C>T (TTN)	XP_024308862.1:p.Ile17171=
XM_024453095.1:c.51510C>T (TTN)	XP_024308863.1:p.Ile17170=
XM_024453096.1:c.50943C>T (TTN)	XP_024308864.1:p.Ile16981=
XM_024453097.1:c.48285C>T (TTN)	XP_024308865.1:p.Ile16095=
XM_024453098.1:c.48204C>T (TTN)	XP_024308866.1:p.Ile16068=
XM_024453099.1:c.29967C>T (TTN)	XP_024308867.1:p.Ile9989=
XM_024453100.1:c.19821C>T (TTN)	XP_024308868.1:p.Ile6607=