Canonical Allele Identifier: CA349446196

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408047G>A (hg19) ; chr2:g.178543320G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543320G>A , CM000664.2:g.178543320G>A	GRCh38
NC_000002.11:g.179408047G>A , CM000664.1:g.179408047G>A	GRCh37
NC_000002.10:g.179116293G>A	NCBI36
NG_011618.3:g.292483C>T , LRG_391:g.292483C>T
NG_051363.1:g.25494G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88949C>T (TTN)	ENSP00000343764.6:p.Thr29650Ile
ENST00000342175.11:c.70034C>T (TTN)	ENSP00000340554.6:p.Thr23345Ile
ENST00000359218.10:c.69833C>T (TTN)	ENSP00000352154.5:p.Thr23278Ile
ENST00000342175.10:c.70034C>T (TTN)	ENSP00000340554.6:p.Thr23345Ile
ENST00000342992.10:c.88949C>T (TTN)	ENSP00000343764.6:p.Thr29650Ile
ENST00000359218.9:c.69833C>T (TTN)	ENSP00000352154.5:p.Thr23278Ile
ENST00000460472.6:c.69458C>T (TTN)	ENSP00000434586.1:p.Thr23153Ile
ENST00000589042.5:c.96653C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr32218Ile
ENST00000591111.5:c.91730C>T (TTN)	ENSP00000465570.1:p.Thr30577Ile
ENST00000615779.4:c.91730C>T (TTN)	ENSP00000483597.1:p.Thr30577Ile
NM_001256850.1:c.91730C>T (TTN)	NP_001243779.1:p.Thr30577Ile
NM_001267550.2:c.96653C>T (TTN) MANE Select	NP_001254479.2:p.Thr32218Ile
NM_003319.4:c.69458C>T (TTN)	NP_003310.4:p.Thr23153Ile
NM_133378.4:c.88949C>T (TTN)	NP_596869.4:p.Thr29650Ile
NM_133432.3:c.69833C>T (TTN)	NP_597676.3:p.Thr23278Ile
NM_133437.4:c.70034C>T (TTN)	NP_597681.4:p.Thr23345Ile
NR_038271.1:n.446+19684G>A (TTN-AS1)
NR_038272.1:n.2043+959G>A (TTN-AS1)
XM_011511729.1:c.95750C>T (TTN)	XP_011510031.1:p.Thr31917Ile
XM_011511730.1:c.69644C>T (TTN)	XP_011510032.1:p.Thr23215Ile
XM_011511731.1:c.69503C>T (TTN)	XP_011510033.1:p.Thr23168Ile
XM_017004819.1:c.95546C>T (TTN)	XP_016860308.1:p.Thr31849Ile
XM_017004820.1:c.90944C>T (TTN)	XP_016860309.1:p.Thr30315Ile
XM_017004821.1:c.90941C>T (TTN)	XP_016860310.1:p.Thr30314Ile
XM_017004822.1:c.87983C>T (TTN)	XP_016860311.1:p.Thr29328Ile
XM_017004823.1:c.69599C>T (TTN)	XP_016860312.1:p.Thr23200Ile
XM_024453094.1:c.91094C>T (TTN)	XP_024308862.1:p.Thr30365Ile
XM_024453095.1:c.91091C>T (TTN)	XP_024308863.1:p.Thr30364Ile
XM_024453096.1:c.90524C>T (TTN)	XP_024308864.1:p.Thr30175Ile
XM_024453097.1:c.87866C>T (TTN)	XP_024308865.1:p.Thr29289Ile
XM_024453098.1:c.87785C>T (TTN)	XP_024308866.1:p.Thr29262Ile
XM_024453099.1:c.69548C>T (TTN)	XP_024308867.1:p.Thr23183Ile
XM_024453100.1:c.59402C>T (TTN)	XP_024308868.1:p.Thr19801Ile