Canonical Allele Identifier: CA349585517

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179474684C>A (hg19) ; chr2:g.178609957C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178609957C>A , CM000664.2:g.178609957C>A	GRCh38
NC_000002.11:g.179474684C>A , CM000664.1:g.179474684C>A	GRCh37
NC_000002.10:g.179182929C>A	NCBI36
NG_011618.3:g.225846G>T , LRG_391:g.225846G>T
NG_051363.1:g.92131C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.43762G>T (TTN)	ENSP00000343764.6:p.Val14588Phe
ENST00000342175.11:c.24847G>T (TTN)	ENSP00000340554.6:p.Val8283Phe
ENST00000359218.10:c.24646G>T (TTN)	ENSP00000352154.5:p.Val8216Phe
ENST00000342175.10:c.24847G>T (TTN)	ENSP00000340554.6:p.Val8283Phe
ENST00000342992.10:c.43762G>T (TTN)	ENSP00000343764.6:p.Val14588Phe
ENST00000359218.9:c.24646G>T (TTN)	ENSP00000352154.5:p.Val8216Phe
ENST00000460472.6:c.24271G>T (TTN)	ENSP00000434586.1:p.Val8091Phe
ENST00000589042.5:c.51466G>T (TTN) MANE Select	ENSP00000467141.1:p.Val17156Phe
ENST00000591111.5:c.46543G>T (TTN)	ENSP00000465570.1:p.Val15515Phe
ENST00000615779.4:c.46543G>T (TTN)	ENSP00000483597.1:p.Val15515Phe
NM_001256850.1:c.46543G>T (TTN)	NP_001243779.1:p.Val15515Phe
NM_001267550.2:c.51466G>T (TTN) MANE Select	NP_001254479.2:p.Val17156Phe
NM_003319.4:c.24271G>T (TTN)	NP_003310.4:p.Val8091Phe
NM_133378.4:c.43762G>T (TTN)	NP_596869.4:p.Val14588Phe
NM_133432.3:c.24646G>T (TTN)	NP_597676.3:p.Val8216Phe
NM_133437.4:c.24847G>T (TTN)	NP_597681.4:p.Val8283Phe
NR_038271.1:n.782+1691C>A (TTN-AS1)
XM_011511729.1:c.50563G>T (TTN)	XP_011510031.1:p.Val16855Phe
XM_011511730.1:c.24457G>T (TTN)	XP_011510032.1:p.Val8153Phe
XM_011511731.1:c.24316G>T (TTN)	XP_011510033.1:p.Val8106Phe
XM_017004819.1:c.50359G>T (TTN)	XP_016860308.1:p.Val16787Phe
XM_017004820.1:c.45757G>T (TTN)	XP_016860309.1:p.Val15253Phe
XM_017004821.1:c.45754G>T (TTN)	XP_016860310.1:p.Val15252Phe
XM_017004822.1:c.42796G>T (TTN)	XP_016860311.1:p.Val14266Phe
XM_017004823.1:c.24412G>T (TTN)	XP_016860312.1:p.Val8138Phe
XM_024453094.1:c.45907G>T (TTN)	XP_024308862.1:p.Val15303Phe
XM_024453095.1:c.45904G>T (TTN)	XP_024308863.1:p.Val15302Phe
XM_024453096.1:c.45337G>T (TTN)	XP_024308864.1:p.Val15113Phe
XM_024453097.1:c.42679G>T (TTN)	XP_024308865.1:p.Val14227Phe
XM_024453098.1:c.42598G>T (TTN)	XP_024308866.1:p.Val14200Phe
XM_024453099.1:c.24361G>T (TTN)	XP_024308867.1:p.Val8121Phe
XM_024453100.1:c.14215G>T (TTN)	XP_024308868.1:p.Val4739Phe