Canonical Allele Identifier: CA349456149

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178544326-G-A
• MyVariant Identifiers: chr2:g.179409053G>A (hg19) ; chr2:g.178544326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544326G>A , CM000664.2:g.178544326G>A	GRCh38
NC_000002.11:g.179409053G>A , CM000664.1:g.179409053G>A	GRCh37
NC_000002.10:g.179117299G>A	NCBI36
NG_011618.3:g.291477C>T , LRG_391:g.291477C>T
NG_051363.1:g.26500G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88199C>T (TTN)	ENSP00000343764.6:p.Thr29400Ile
ENST00000342175.11:c.69284C>T (TTN)	ENSP00000340554.6:p.Thr23095Ile
ENST00000359218.10:c.69083C>T (TTN)	ENSP00000352154.5:p.Thr23028Ile
ENST00000342175.10:c.69284C>T (TTN)	ENSP00000340554.6:p.Thr23095Ile
ENST00000342992.10:c.88199C>T (TTN)	ENSP00000343764.6:p.Thr29400Ile
ENST00000359218.9:c.69083C>T (TTN)	ENSP00000352154.5:p.Thr23028Ile
ENST00000460472.6:c.68708C>T (TTN)	ENSP00000434586.1:p.Thr22903Ile
ENST00000589042.5:c.95903C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr31968Ile
ENST00000591111.5:c.90980C>T (TTN)	ENSP00000465570.1:p.Thr30327Ile
ENST00000615779.4:c.90980C>T (TTN)	ENSP00000483597.1:p.Thr30327Ile
NM_001256850.1:c.90980C>T (TTN)	NP_001243779.1:p.Thr30327Ile
NM_001267550.2:c.95903C>T (TTN) MANE Select	NP_001254479.2:p.Thr31968Ile
NM_003319.4:c.68708C>T (TTN)	NP_003310.4:p.Thr22903Ile
NM_133378.4:c.88199C>T (TTN)	NP_596869.4:p.Thr29400Ile
NM_133432.3:c.69083C>T (TTN)	NP_597676.3:p.Thr23028Ile
NM_133437.4:c.69284C>T (TTN)	NP_597681.4:p.Thr23095Ile
NR_038271.1:n.446+20690G>A (TTN-AS1)
NR_038272.1:n.2043+1965G>A (TTN-AS1)
XM_011511729.1:c.95000C>T (TTN)	XP_011510031.1:p.Thr31667Ile
XM_011511730.1:c.68894C>T (TTN)	XP_011510032.1:p.Thr22965Ile
XM_011511731.1:c.68753C>T (TTN)	XP_011510033.1:p.Thr22918Ile
XM_017004819.1:c.94796C>T (TTN)	XP_016860308.1:p.Thr31599Ile
XM_017004820.1:c.90194C>T (TTN)	XP_016860309.1:p.Thr30065Ile
XM_017004821.1:c.90191C>T (TTN)	XP_016860310.1:p.Thr30064Ile
XM_017004822.1:c.87233C>T (TTN)	XP_016860311.1:p.Thr29078Ile
XM_017004823.1:c.68849C>T (TTN)	XP_016860312.1:p.Thr22950Ile
XM_024453094.1:c.90344C>T (TTN)	XP_024308862.1:p.Thr30115Ile
XM_024453095.1:c.90341C>T (TTN)	XP_024308863.1:p.Thr30114Ile
XM_024453096.1:c.89774C>T (TTN)	XP_024308864.1:p.Thr29925Ile
XM_024453097.1:c.87116C>T (TTN)	XP_024308865.1:p.Thr29039Ile
XM_024453098.1:c.87035C>T (TTN)	XP_024308866.1:p.Thr29012Ile
XM_024453099.1:c.68798C>T (TTN)	XP_024308867.1:p.Thr22933Ile
XM_024453100.1:c.58652C>T (TTN)	XP_024308868.1:p.Thr19551Ile