Canonical Allele Identifier: CA349511648

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179417286G>A (hg19) ; chr2:g.178552559G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178552559G>A , CM000664.2:g.178552559G>A	GRCh38
NC_000002.11:g.179417286G>A , CM000664.1:g.179417286G>A	GRCh37
NC_000002.10:g.179125532G>A	NCBI36
NG_011618.3:g.283244C>T , LRG_391:g.283244C>T
NG_051363.1:g.34733G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.82637C>T (TTN)	ENSP00000343764.6:p.Pro27546Leu
ENST00000342175.11:c.63722C>T (TTN)	ENSP00000340554.6:p.Pro21241Leu
ENST00000359218.10:c.63521C>T (TTN)	ENSP00000352154.5:p.Pro21174Leu
ENST00000342175.10:c.63722C>T (TTN)	ENSP00000340554.6:p.Pro21241Leu
ENST00000342992.10:c.82637C>T (TTN)	ENSP00000343764.6:p.Pro27546Leu
ENST00000359218.9:c.63521C>T (TTN)	ENSP00000352154.5:p.Pro21174Leu
ENST00000460472.6:c.63146C>T (TTN)	ENSP00000434586.1:p.Pro21049Leu
ENST00000589042.5:c.90341C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro30114Leu
ENST00000591111.5:c.85418C>T (TTN)	ENSP00000465570.1:p.Pro28473Leu
ENST00000615779.4:c.85418C>T (TTN)	ENSP00000483597.1:p.Pro28473Leu
NM_001256850.1:c.85418C>T (TTN)	NP_001243779.1:p.Pro28473Leu
NM_001267550.2:c.90341C>T (TTN) MANE Select	NP_001254479.2:p.Pro30114Leu
NM_003319.4:c.63146C>T (TTN)	NP_003310.4:p.Pro21049Leu
NM_133378.4:c.82637C>T (TTN)	NP_596869.4:p.Pro27546Leu
NM_133432.3:c.63521C>T (TTN)	NP_597676.3:p.Pro21174Leu
NM_133437.4:c.63722C>T (TTN)	NP_597681.4:p.Pro21241Leu
NR_038271.1:n.447-18741G>A (TTN-AS1)
NR_038272.1:n.2043+10198G>A (TTN-AS1)
XM_011511729.1:c.89438C>T (TTN)	XP_011510031.1:p.Pro29813Leu
XM_011511730.1:c.63332C>T (TTN)	XP_011510032.1:p.Pro21111Leu
XM_011511731.1:c.63191C>T (TTN)	XP_011510033.1:p.Pro21064Leu
XM_017004819.1:c.89234C>T (TTN)	XP_016860308.1:p.Pro29745Leu
XM_017004820.1:c.84632C>T (TTN)	XP_016860309.1:p.Pro28211Leu
XM_017004821.1:c.84629C>T (TTN)	XP_016860310.1:p.Pro28210Leu
XM_017004822.1:c.81671C>T (TTN)	XP_016860311.1:p.Pro27224Leu
XM_017004823.1:c.63287C>T (TTN)	XP_016860312.1:p.Pro21096Leu
XM_024453094.1:c.84782C>T (TTN)	XP_024308862.1:p.Pro28261Leu
XM_024453095.1:c.84779C>T (TTN)	XP_024308863.1:p.Pro28260Leu
XM_024453096.1:c.84212C>T (TTN)	XP_024308864.1:p.Pro28071Leu
XM_024453097.1:c.81554C>T (TTN)	XP_024308865.1:p.Pro27185Leu
XM_024453098.1:c.81473C>T (TTN)	XP_024308866.1:p.Pro27158Leu
XM_024453099.1:c.63236C>T (TTN)	XP_024308867.1:p.Pro21079Leu
XM_024453100.1:c.53090C>T (TTN)	XP_024308868.1:p.Pro17697Leu