Canonical Allele Identifier: CA349495923

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414536G>A (hg19) ; chr2:g.178549809G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549809G>A , CM000664.2:g.178549809G>A	GRCh38
NC_000002.11:g.179414536G>A , CM000664.1:g.179414536G>A	GRCh37
NC_000002.10:g.179122782G>A	NCBI36
NG_011618.3:g.285994C>T , LRG_391:g.285994C>T
NG_051363.1:g.31983G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84209C>T (TTN)	ENSP00000343764.6:p.Thr28070Ile
ENST00000342175.11:c.65294C>T (TTN)	ENSP00000340554.6:p.Thr21765Ile
ENST00000359218.10:c.65093C>T (TTN)	ENSP00000352154.5:p.Thr21698Ile
ENST00000342175.10:c.65294C>T (TTN)	ENSP00000340554.6:p.Thr21765Ile
ENST00000342992.10:c.84209C>T (TTN)	ENSP00000343764.6:p.Thr28070Ile
ENST00000359218.9:c.65093C>T (TTN)	ENSP00000352154.5:p.Thr21698Ile
ENST00000460472.6:c.64718C>T (TTN)	ENSP00000434586.1:p.Thr21573Ile
ENST00000589042.5:c.91913C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr30638Ile
ENST00000591111.5:c.86990C>T (TTN)	ENSP00000465570.1:p.Thr28997Ile
ENST00000615779.4:c.86990C>T (TTN)	ENSP00000483597.1:p.Thr28997Ile
NM_001256850.1:c.86990C>T (TTN)	NP_001243779.1:p.Thr28997Ile
NM_001267550.2:c.91913C>T (TTN) MANE Select	NP_001254479.2:p.Thr30638Ile
NM_003319.4:c.64718C>T (TTN)	NP_003310.4:p.Thr21573Ile
NM_133378.4:c.84209C>T (TTN)	NP_596869.4:p.Thr28070Ile
NM_133432.3:c.65093C>T (TTN)	NP_597676.3:p.Thr21698Ile
NM_133437.4:c.65294C>T (TTN)	NP_597681.4:p.Thr21765Ile
NR_038271.1:n.447-21491G>A (TTN-AS1)
NR_038272.1:n.2043+7448G>A (TTN-AS1)
XM_011511729.1:c.91010C>T (TTN)	XP_011510031.1:p.Thr30337Ile
XM_011511730.1:c.64904C>T (TTN)	XP_011510032.1:p.Thr21635Ile
XM_011511731.1:c.64763C>T (TTN)	XP_011510033.1:p.Thr21588Ile
XM_017004819.1:c.90806C>T (TTN)	XP_016860308.1:p.Thr30269Ile
XM_017004820.1:c.86204C>T (TTN)	XP_016860309.1:p.Thr28735Ile
XM_017004821.1:c.86201C>T (TTN)	XP_016860310.1:p.Thr28734Ile
XM_017004822.1:c.83243C>T (TTN)	XP_016860311.1:p.Thr27748Ile
XM_017004823.1:c.64859C>T (TTN)	XP_016860312.1:p.Thr21620Ile
XM_024453094.1:c.86354C>T (TTN)	XP_024308862.1:p.Thr28785Ile
XM_024453095.1:c.86351C>T (TTN)	XP_024308863.1:p.Thr28784Ile
XM_024453096.1:c.85784C>T (TTN)	XP_024308864.1:p.Thr28595Ile
XM_024453097.1:c.83126C>T (TTN)	XP_024308865.1:p.Thr27709Ile
XM_024453098.1:c.83045C>T (TTN)	XP_024308866.1:p.Thr27682Ile
XM_024453099.1:c.64808C>T (TTN)	XP_024308867.1:p.Thr21603Ile
XM_024453100.1:c.54662C>T (TTN)	XP_024308868.1:p.Thr18221Ile