Canonical Allele Identifier: CA349495721

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179414518G>T (hg19) ; chr2:g.178549791G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178549791G>T , CM000664.2:g.178549791G>T	GRCh38
NC_000002.11:g.179414518G>T , CM000664.1:g.179414518G>T	GRCh37
NC_000002.10:g.179122764G>T	NCBI36
NG_011618.3:g.286012C>A , LRG_391:g.286012C>A
NG_051363.1:g.31965G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.84227C>A (TTN)	ENSP00000343764.6:p.Pro28076Gln
ENST00000342175.11:c.65312C>A (TTN)	ENSP00000340554.6:p.Pro21771Gln
ENST00000359218.10:c.65111C>A (TTN)	ENSP00000352154.5:p.Pro21704Gln
ENST00000342175.10:c.65312C>A (TTN)	ENSP00000340554.6:p.Pro21771Gln
ENST00000342992.10:c.84227C>A (TTN)	ENSP00000343764.6:p.Pro28076Gln
ENST00000359218.9:c.65111C>A (TTN)	ENSP00000352154.5:p.Pro21704Gln
ENST00000460472.6:c.64736C>A (TTN)	ENSP00000434586.1:p.Pro21579Gln
ENST00000589042.5:c.91931C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro30644Gln
ENST00000591111.5:c.87008C>A (TTN)	ENSP00000465570.1:p.Pro29003Gln
ENST00000615779.4:c.87008C>A (TTN)	ENSP00000483597.1:p.Pro29003Gln
NM_001256850.1:c.87008C>A (TTN)	NP_001243779.1:p.Pro29003Gln
NM_001267550.2:c.91931C>A (TTN) MANE Select	NP_001254479.2:p.Pro30644Gln
NM_003319.4:c.64736C>A (TTN)	NP_003310.4:p.Pro21579Gln
NM_133378.4:c.84227C>A (TTN)	NP_596869.4:p.Pro28076Gln
NM_133432.3:c.65111C>A (TTN)	NP_597676.3:p.Pro21704Gln
NM_133437.4:c.65312C>A (TTN)	NP_597681.4:p.Pro21771Gln
NR_038271.1:n.447-21509G>T (TTN-AS1)
NR_038272.1:n.2043+7430G>T (TTN-AS1)
XM_011511729.1:c.91028C>A (TTN)	XP_011510031.1:p.Pro30343Gln
XM_011511730.1:c.64922C>A (TTN)	XP_011510032.1:p.Pro21641Gln
XM_011511731.1:c.64781C>A (TTN)	XP_011510033.1:p.Pro21594Gln
XM_017004819.1:c.90824C>A (TTN)	XP_016860308.1:p.Pro30275Gln
XM_017004820.1:c.86222C>A (TTN)	XP_016860309.1:p.Pro28741Gln
XM_017004821.1:c.86219C>A (TTN)	XP_016860310.1:p.Pro28740Gln
XM_017004822.1:c.83261C>A (TTN)	XP_016860311.1:p.Pro27754Gln
XM_017004823.1:c.64877C>A (TTN)	XP_016860312.1:p.Pro21626Gln
XM_024453094.1:c.86372C>A (TTN)	XP_024308862.1:p.Pro28791Gln
XM_024453095.1:c.86369C>A (TTN)	XP_024308863.1:p.Pro28790Gln
XM_024453096.1:c.85802C>A (TTN)	XP_024308864.1:p.Pro28601Gln
XM_024453097.1:c.83144C>A (TTN)	XP_024308865.1:p.Pro27715Gln
XM_024453098.1:c.83063C>A (TTN)	XP_024308866.1:p.Pro27688Gln
XM_024453099.1:c.64826C>A (TTN)	XP_024308867.1:p.Pro21609Gln
XM_024453100.1:c.54680C>A (TTN)	XP_024308868.1:p.Pro18227Gln