Canonical Allele Identifier: CA349490125

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178548768-G-A
• MyVariant Identifiers: chr2:g.179413495G>A (hg19) ; chr2:g.178548768G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178548768G>A , CM000664.2:g.178548768G>A	GRCh38
NC_000002.11:g.179413495G>A , CM000664.1:g.179413495G>A	GRCh37
NC_000002.10:g.179121741G>A	NCBI36
NG_011618.3:g.287035C>T , LRG_391:g.287035C>T
NG_051363.1:g.30942G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.85154C>T (TTN)	ENSP00000343764.6:p.Pro28385Leu
ENST00000342175.11:c.66239C>T (TTN)	ENSP00000340554.6:p.Pro22080Leu
ENST00000359218.10:c.66038C>T (TTN)	ENSP00000352154.5:p.Pro22013Leu
ENST00000342175.10:c.66239C>T (TTN)	ENSP00000340554.6:p.Pro22080Leu
ENST00000342992.10:c.85154C>T (TTN)	ENSP00000343764.6:p.Pro28385Leu
ENST00000359218.9:c.66038C>T (TTN)	ENSP00000352154.5:p.Pro22013Leu
ENST00000460472.6:c.65663C>T (TTN)	ENSP00000434586.1:p.Pro21888Leu
ENST00000589042.5:c.92858C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro30953Leu
ENST00000591111.5:c.87935C>T (TTN)	ENSP00000465570.1:p.Pro29312Leu
ENST00000615779.4:c.87935C>T (TTN)	ENSP00000483597.1:p.Pro29312Leu
NM_001256850.1:c.87935C>T (TTN)	NP_001243779.1:p.Pro29312Leu
NM_001267550.2:c.92858C>T (TTN) MANE Select	NP_001254479.2:p.Pro30953Leu
NM_003319.4:c.65663C>T (TTN)	NP_003310.4:p.Pro21888Leu
NM_133378.4:c.85154C>T (TTN)	NP_596869.4:p.Pro28385Leu
NM_133432.3:c.66038C>T (TTN)	NP_597676.3:p.Pro22013Leu
NM_133437.4:c.66239C>T (TTN)	NP_597681.4:p.Pro22080Leu
NR_038271.1:n.447-22532G>A (TTN-AS1)
NR_038272.1:n.2043+6407G>A (TTN-AS1)
XM_011511729.1:c.91955C>T (TTN)	XP_011510031.1:p.Pro30652Leu
XM_011511730.1:c.65849C>T (TTN)	XP_011510032.1:p.Pro21950Leu
XM_011511731.1:c.65708C>T (TTN)	XP_011510033.1:p.Pro21903Leu
XM_017004819.1:c.91751C>T (TTN)	XP_016860308.1:p.Pro30584Leu
XM_017004820.1:c.87149C>T (TTN)	XP_016860309.1:p.Pro29050Leu
XM_017004821.1:c.87146C>T (TTN)	XP_016860310.1:p.Pro29049Leu
XM_017004822.1:c.84188C>T (TTN)	XP_016860311.1:p.Pro28063Leu
XM_017004823.1:c.65804C>T (TTN)	XP_016860312.1:p.Pro21935Leu
XM_024453094.1:c.87299C>T (TTN)	XP_024308862.1:p.Pro29100Leu
XM_024453095.1:c.87296C>T (TTN)	XP_024308863.1:p.Pro29099Leu
XM_024453096.1:c.86729C>T (TTN)	XP_024308864.1:p.Pro28910Leu
XM_024453097.1:c.84071C>T (TTN)	XP_024308865.1:p.Pro28024Leu
XM_024453098.1:c.83990C>T (TTN)	XP_024308866.1:p.Pro27997Leu
XM_024453099.1:c.65753C>T (TTN)	XP_024308867.1:p.Pro21918Leu
XM_024453100.1:c.55607C>T (TTN)	XP_024308868.1:p.Pro18536Leu