Canonical Allele Identifier: CA349503396

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179416473C>A (hg19) ; chr2:g.178551746C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178551746C>A , CM000664.2:g.178551746C>A	GRCh38
NC_000002.11:g.179416473C>A , CM000664.1:g.179416473C>A	GRCh37
NC_000002.10:g.179124719C>A	NCBI36
NG_011618.3:g.284057G>T , LRG_391:g.284057G>T
NG_051363.1:g.33920C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.83450G>T (TTN)	ENSP00000343764.6:p.Arg27817Ile
ENST00000342175.11:c.64535G>T (TTN)	ENSP00000340554.6:p.Arg21512Ile
ENST00000359218.10:c.64334G>T (TTN)	ENSP00000352154.5:p.Arg21445Ile
ENST00000342175.10:c.64535G>T (TTN)	ENSP00000340554.6:p.Arg21512Ile
ENST00000342992.10:c.83450G>T (TTN)	ENSP00000343764.6:p.Arg27817Ile
ENST00000359218.9:c.64334G>T (TTN)	ENSP00000352154.5:p.Arg21445Ile
ENST00000460472.6:c.63959G>T (TTN)	ENSP00000434586.1:p.Arg21320Ile
ENST00000589042.5:c.91154G>T (TTN) MANE Select	ENSP00000467141.1:p.Arg30385Ile
ENST00000591111.5:c.86231G>T (TTN)	ENSP00000465570.1:p.Arg28744Ile
ENST00000615779.4:c.86231G>T (TTN)	ENSP00000483597.1:p.Arg28744Ile
NM_001256850.1:c.86231G>T (TTN)	NP_001243779.1:p.Arg28744Ile
NM_001267550.2:c.91154G>T (TTN) MANE Select	NP_001254479.2:p.Arg30385Ile
NM_003319.4:c.63959G>T (TTN)	NP_003310.4:p.Arg21320Ile
NM_133378.4:c.83450G>T (TTN)	NP_596869.4:p.Arg27817Ile
NM_133432.3:c.64334G>T (TTN)	NP_597676.3:p.Arg21445Ile
NM_133437.4:c.64535G>T (TTN)	NP_597681.4:p.Arg21512Ile
NR_038271.1:n.447-19554C>A (TTN-AS1)
NR_038272.1:n.2043+9385C>A (TTN-AS1)
XM_011511729.1:c.90251G>T (TTN)	XP_011510031.1:p.Arg30084Ile
XM_011511730.1:c.64145G>T (TTN)	XP_011510032.1:p.Arg21382Ile
XM_011511731.1:c.64004G>T (TTN)	XP_011510033.1:p.Arg21335Ile
XM_017004819.1:c.90047G>T (TTN)	XP_016860308.1:p.Arg30016Ile
XM_017004820.1:c.85445G>T (TTN)	XP_016860309.1:p.Arg28482Ile
XM_017004821.1:c.85442G>T (TTN)	XP_016860310.1:p.Arg28481Ile
XM_017004822.1:c.82484G>T (TTN)	XP_016860311.1:p.Arg27495Ile
XM_017004823.1:c.64100G>T (TTN)	XP_016860312.1:p.Arg21367Ile
XM_024453094.1:c.85595G>T (TTN)	XP_024308862.1:p.Arg28532Ile
XM_024453095.1:c.85592G>T (TTN)	XP_024308863.1:p.Arg28531Ile
XM_024453096.1:c.85025G>T (TTN)	XP_024308864.1:p.Arg28342Ile
XM_024453097.1:c.82367G>T (TTN)	XP_024308865.1:p.Arg27456Ile
XM_024453098.1:c.82286G>T (TTN)	XP_024308866.1:p.Arg27429Ile
XM_024453099.1:c.64049G>T (TTN)	XP_024308867.1:p.Arg21350Ile
XM_024453100.1:c.53903G>T (TTN)	XP_024308868.1:p.Arg17968Ile