Canonical Allele Identifier: CA349450443

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408584G>A (hg19) ; chr2:g.178543857G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543857G>A , CM000664.2:g.178543857G>A	GRCh38
NC_000002.11:g.179408584G>A , CM000664.1:g.179408584G>A	GRCh37
NC_000002.10:g.179116830G>A	NCBI36
NG_011618.3:g.291946C>T , LRG_391:g.291946C>T
NG_051363.1:g.26031G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88583C>T (TTN)	ENSP00000343764.6:p.Ala29528Val
ENST00000342175.11:c.69668C>T (TTN)	ENSP00000340554.6:p.Ala23223Val
ENST00000359218.10:c.69467C>T (TTN)	ENSP00000352154.5:p.Ala23156Val
ENST00000342175.10:c.69668C>T (TTN)	ENSP00000340554.6:p.Ala23223Val
ENST00000342992.10:c.88583C>T (TTN)	ENSP00000343764.6:p.Ala29528Val
ENST00000359218.9:c.69467C>T (TTN)	ENSP00000352154.5:p.Ala23156Val
ENST00000460472.6:c.69092C>T (TTN)	ENSP00000434586.1:p.Ala23031Val
ENST00000589042.5:c.96287C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala32096Val
ENST00000591111.5:c.91364C>T (TTN)	ENSP00000465570.1:p.Ala30455Val
ENST00000615779.4:c.91364C>T (TTN)	ENSP00000483597.1:p.Ala30455Val
NM_001256850.1:c.91364C>T (TTN)	NP_001243779.1:p.Ala30455Val
NM_001267550.2:c.96287C>T (TTN) MANE Select	NP_001254479.2:p.Ala32096Val
NM_003319.4:c.69092C>T (TTN)	NP_003310.4:p.Ala23031Val
NM_133378.4:c.88583C>T (TTN)	NP_596869.4:p.Ala29528Val
NM_133432.3:c.69467C>T (TTN)	NP_597676.3:p.Ala23156Val
NM_133437.4:c.69668C>T (TTN)	NP_597681.4:p.Ala23223Val
NR_038271.1:n.446+20221G>A (TTN-AS1)
NR_038272.1:n.2043+1496G>A (TTN-AS1)
XM_011511729.1:c.95384C>T (TTN)	XP_011510031.1:p.Ala31795Val
XM_011511730.1:c.69278C>T (TTN)	XP_011510032.1:p.Ala23093Val
XM_011511731.1:c.69137C>T (TTN)	XP_011510033.1:p.Ala23046Val
XM_017004819.1:c.95180C>T (TTN)	XP_016860308.1:p.Ala31727Val
XM_017004820.1:c.90578C>T (TTN)	XP_016860309.1:p.Ala30193Val
XM_017004821.1:c.90575C>T (TTN)	XP_016860310.1:p.Ala30192Val
XM_017004822.1:c.87617C>T (TTN)	XP_016860311.1:p.Ala29206Val
XM_017004823.1:c.69233C>T (TTN)	XP_016860312.1:p.Ala23078Val
XM_024453094.1:c.90728C>T (TTN)	XP_024308862.1:p.Ala30243Val
XM_024453095.1:c.90725C>T (TTN)	XP_024308863.1:p.Ala30242Val
XM_024453096.1:c.90158C>T (TTN)	XP_024308864.1:p.Ala30053Val
XM_024453097.1:c.87500C>T (TTN)	XP_024308865.1:p.Ala29167Val
XM_024453098.1:c.87419C>T (TTN)	XP_024308866.1:p.Ala29140Val
XM_024453099.1:c.69182C>T (TTN)	XP_024308867.1:p.Ala23061Val
XM_024453100.1:c.59036C>T (TTN)	XP_024308868.1:p.Ala19679Val