Canonical Allele Identifier: CA349494163

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178592780-C-T
• MyVariant Identifiers: chr2:g.179457507C>T (hg19) ; chr2:g.178592780C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592780C>T , CM000664.2:g.178592780C>T	GRCh38
NC_000002.11:g.179457507C>T , CM000664.1:g.179457507C>T	GRCh37
NC_000002.10:g.179165753C>T	NCBI36
NG_011618.3:g.243023G>A , LRG_391:g.243023G>A
NG_051363.1:g.74954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51635G>A (TTN)	ENSP00000343764.6:p.Arg17212Lys
ENST00000342175.11:c.32720G>A (TTN)	ENSP00000340554.6:p.Arg10907Lys
ENST00000359218.10:c.32519G>A (TTN)	ENSP00000352154.5:p.Arg10840Lys
ENST00000342175.10:c.32720G>A (TTN)	ENSP00000340554.6:p.Arg10907Lys
ENST00000342992.10:c.51635G>A (TTN)	ENSP00000343764.6:p.Arg17212Lys
ENST00000359218.9:c.32519G>A (TTN)	ENSP00000352154.5:p.Arg10840Lys
ENST00000460472.6:c.32144G>A (TTN)	ENSP00000434586.1:p.Arg10715Lys
ENST00000589042.5:c.59339G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg19780Lys
ENST00000591111.5:c.54416G>A (TTN)	ENSP00000465570.1:p.Arg18139Lys
ENST00000615779.4:c.54416G>A (TTN)	ENSP00000483597.1:p.Arg18139Lys
NM_001256850.1:c.54416G>A (TTN)	NP_001243779.1:p.Arg18139Lys
NM_001267550.2:c.59339G>A (TTN) MANE Select	NP_001254479.2:p.Arg19780Lys
NM_003319.4:c.32144G>A (TTN)	NP_003310.4:p.Arg10715Lys
NM_133378.4:c.51635G>A (TTN)	NP_596869.4:p.Arg17212Lys
NM_133432.3:c.32519G>A (TTN)	NP_597676.3:p.Arg10840Lys
NM_133437.4:c.32720G>A (TTN)	NP_597681.4:p.Arg10907Lys
NR_038271.1:n.597-4816C>T (TTN-AS1)
NR_038272.1:n.3364+1466C>T (TTN-AS1)
XM_011511729.1:c.58436G>A (TTN)	XP_011510031.1:p.Arg19479Lys
XM_011511730.1:c.32330G>A (TTN)	XP_011510032.1:p.Arg10777Lys
XM_011511731.1:c.32189G>A (TTN)	XP_011510033.1:p.Arg10730Lys
XM_017004819.1:c.58232G>A (TTN)	XP_016860308.1:p.Arg19411Lys
XM_017004820.1:c.53630G>A (TTN)	XP_016860309.1:p.Arg17877Lys
XM_017004821.1:c.53627G>A (TTN)	XP_016860310.1:p.Arg17876Lys
XM_017004822.1:c.50669G>A (TTN)	XP_016860311.1:p.Arg16890Lys
XM_017004823.1:c.32285G>A (TTN)	XP_016860312.1:p.Arg10762Lys
XM_024453094.1:c.53780G>A (TTN)	XP_024308862.1:p.Arg17927Lys
XM_024453095.1:c.53777G>A (TTN)	XP_024308863.1:p.Arg17926Lys
XM_024453096.1:c.53210G>A (TTN)	XP_024308864.1:p.Arg17737Lys
XM_024453097.1:c.50552G>A (TTN)	XP_024308865.1:p.Arg16851Lys
XM_024453098.1:c.50471G>A (TTN)	XP_024308866.1:p.Arg16824Lys
XM_024453099.1:c.32234G>A (TTN)	XP_024308867.1:p.Arg10745Lys
XM_024453100.1:c.22088G>A (TTN)	XP_024308868.1:p.Arg7363Lys