Canonical Allele Identifier: CA349621760

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179435272G>A (hg19) ; chr2:g.178570545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178570545G>A , CM000664.2:g.178570545G>A	GRCh38
NC_000002.11:g.179435272G>A , CM000664.1:g.179435272G>A	GRCh37
NC_000002.10:g.179143518G>A	NCBI36
NG_011618.3:g.265258C>T , LRG_391:g.265258C>T
NG_051363.1:g.52719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.67883C>T (TTN)	ENSP00000343764.6:p.Thr22628Ile
ENST00000342175.11:c.48968C>T (TTN)	ENSP00000340554.6:p.Thr16323Ile
ENST00000359218.10:c.48767C>T (TTN)	ENSP00000352154.5:p.Thr16256Ile
ENST00000342175.10:c.48968C>T (TTN)	ENSP00000340554.6:p.Thr16323Ile
ENST00000342992.10:c.67883C>T (TTN)	ENSP00000343764.6:p.Thr22628Ile
ENST00000359218.9:c.48767C>T (TTN)	ENSP00000352154.5:p.Thr16256Ile
ENST00000460472.6:c.48392C>T (TTN)	ENSP00000434586.1:p.Thr16131Ile
ENST00000589042.5:c.75587C>T (TTN) MANE Select	ENSP00000467141.1:p.Thr25196Ile
ENST00000591111.5:c.70664C>T (TTN)	ENSP00000465570.1:p.Thr23555Ile
ENST00000615779.4:c.70664C>T (TTN)	ENSP00000483597.1:p.Thr23555Ile
NM_001256850.1:c.70664C>T (TTN)	NP_001243779.1:p.Thr23555Ile
NM_001267550.2:c.75587C>T (TTN) MANE Select	NP_001254479.2:p.Thr25196Ile
NM_003319.4:c.48392C>T (TTN)	NP_003310.4:p.Thr16131Ile
NM_133378.4:c.67883C>T (TTN)	NP_596869.4:p.Thr22628Ile
NM_133432.3:c.48767C>T (TTN)	NP_597676.3:p.Thr16256Ile
NM_133437.4:c.48968C>T (TTN)	NP_597681.4:p.Thr16323Ile
NR_038271.1:n.447-755G>A (TTN-AS1)
NR_038272.1:n.2044-12027G>A (TTN-AS1)
XM_011511729.1:c.74684C>T (TTN)	XP_011510031.1:p.Thr24895Ile
XM_011511730.1:c.48578C>T (TTN)	XP_011510032.1:p.Thr16193Ile
XM_011511731.1:c.48437C>T (TTN)	XP_011510033.1:p.Thr16146Ile
XM_017004819.1:c.74480C>T (TTN)	XP_016860308.1:p.Thr24827Ile
XM_017004820.1:c.69878C>T (TTN)	XP_016860309.1:p.Thr23293Ile
XM_017004821.1:c.69875C>T (TTN)	XP_016860310.1:p.Thr23292Ile
XM_017004822.1:c.66917C>T (TTN)	XP_016860311.1:p.Thr22306Ile
XM_017004823.1:c.48533C>T (TTN)	XP_016860312.1:p.Thr16178Ile
XM_024453094.1:c.70028C>T (TTN)	XP_024308862.1:p.Thr23343Ile
XM_024453095.1:c.70025C>T (TTN)	XP_024308863.1:p.Thr23342Ile
XM_024453096.1:c.69458C>T (TTN)	XP_024308864.1:p.Thr23153Ile
XM_024453097.1:c.66800C>T (TTN)	XP_024308865.1:p.Thr22267Ile
XM_024453098.1:c.66719C>T (TTN)	XP_024308866.1:p.Thr22240Ile
XM_024453099.1:c.48482C>T (TTN)	XP_024308867.1:p.Thr16161Ile
XM_024453100.1:c.38336C>T (TTN)	XP_024308868.1:p.Thr12779Ile