Canonical Allele Identifier: CA349543442

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179424376T>A (hg19) ; chr2:g.178559649T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559649T>A , CM000664.2:g.178559649T>A	GRCh38
NC_000002.11:g.179424376T>A , CM000664.1:g.179424376T>A	GRCh37
NC_000002.10:g.179132622T>A	NCBI36
NG_011618.3:g.276154A>T , LRG_391:g.276154A>T
NG_051363.1:g.41823T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78779A>T (TTN)	ENSP00000343764.6:p.Gln26260Leu
ENST00000342175.11:c.59864A>T (TTN)	ENSP00000340554.6:p.Gln19955Leu
ENST00000359218.10:c.59663A>T (TTN)	ENSP00000352154.5:p.Gln19888Leu
ENST00000342175.10:c.59864A>T (TTN)	ENSP00000340554.6:p.Gln19955Leu
ENST00000342992.10:c.78779A>T (TTN)	ENSP00000343764.6:p.Gln26260Leu
ENST00000359218.9:c.59663A>T (TTN)	ENSP00000352154.5:p.Gln19888Leu
ENST00000460472.6:c.59288A>T (TTN)	ENSP00000434586.1:p.Gln19763Leu
ENST00000589042.5:c.86483A>T (TTN) MANE Select	ENSP00000467141.1:p.Gln28828Leu
ENST00000591111.5:c.81560A>T (TTN)	ENSP00000465570.1:p.Gln27187Leu
ENST00000615779.4:c.81560A>T (TTN)	ENSP00000483597.1:p.Gln27187Leu
NM_001256850.1:c.81560A>T (TTN)	NP_001243779.1:p.Gln27187Leu
NM_001267550.2:c.86483A>T (TTN) MANE Select	NP_001254479.2:p.Gln28828Leu
NM_003319.4:c.59288A>T (TTN)	NP_003310.4:p.Gln19763Leu
NM_133378.4:c.78779A>T (TTN)	NP_596869.4:p.Gln26260Leu
NM_133432.3:c.59663A>T (TTN)	NP_597676.3:p.Gln19888Leu
NM_133437.4:c.59864A>T (TTN)	NP_597681.4:p.Gln19955Leu
NR_038271.1:n.447-11651T>A (TTN-AS1)
NR_038272.1:n.2043+17288T>A (TTN-AS1)
XM_011511729.1:c.85580A>T (TTN)	XP_011510031.1:p.Gln28527Leu
XM_011511730.1:c.59474A>T (TTN)	XP_011510032.1:p.Gln19825Leu
XM_011511731.1:c.59333A>T (TTN)	XP_011510033.1:p.Gln19778Leu
XM_017004819.1:c.85376A>T (TTN)	XP_016860308.1:p.Gln28459Leu
XM_017004820.1:c.80774A>T (TTN)	XP_016860309.1:p.Gln26925Leu
XM_017004821.1:c.80771A>T (TTN)	XP_016860310.1:p.Gln26924Leu
XM_017004822.1:c.77813A>T (TTN)	XP_016860311.1:p.Gln25938Leu
XM_017004823.1:c.59429A>T (TTN)	XP_016860312.1:p.Gln19810Leu
XM_024453094.1:c.80924A>T (TTN)	XP_024308862.1:p.Gln26975Leu
XM_024453095.1:c.80921A>T (TTN)	XP_024308863.1:p.Gln26974Leu
XM_024453096.1:c.80354A>T (TTN)	XP_024308864.1:p.Gln26785Leu
XM_024453097.1:c.77696A>T (TTN)	XP_024308865.1:p.Gln25899Leu
XM_024453098.1:c.77615A>T (TTN)	XP_024308866.1:p.Gln25872Leu
XM_024453099.1:c.59378A>T (TTN)	XP_024308867.1:p.Gln19793Leu
XM_024453100.1:c.49232A>T (TTN)	XP_024308868.1:p.Gln16411Leu