Canonical Allele Identifier: CA349616266

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179434601A>T (hg19) ; chr2:g.178569874A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569874A>T , CM000664.2:g.178569874A>T	GRCh38
NC_000002.11:g.179434601A>T , CM000664.1:g.179434601A>T	GRCh37
NC_000002.10:g.179142847A>T	NCBI36
NG_011618.3:g.265929T>A , LRG_391:g.265929T>A
NG_051363.1:g.52048A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.68554T>A (TTN)	ENSP00000343764.6:p.Ser22852Thr
ENST00000342175.11:c.49639T>A (TTN)	ENSP00000340554.6:p.Ser16547Thr
ENST00000359218.10:c.49438T>A (TTN)	ENSP00000352154.5:p.Ser16480Thr
ENST00000342175.10:c.49639T>A (TTN)	ENSP00000340554.6:p.Ser16547Thr
ENST00000342992.10:c.68554T>A (TTN)	ENSP00000343764.6:p.Ser22852Thr
ENST00000359218.9:c.49438T>A (TTN)	ENSP00000352154.5:p.Ser16480Thr
ENST00000460472.6:c.49063T>A (TTN)	ENSP00000434586.1:p.Ser16355Thr
ENST00000589042.5:c.76258T>A (TTN) MANE Select	ENSP00000467141.1:p.Ser25420Thr
ENST00000591111.5:c.71335T>A (TTN)	ENSP00000465570.1:p.Ser23779Thr
ENST00000615779.4:c.71335T>A (TTN)	ENSP00000483597.1:p.Ser23779Thr
NM_001256850.1:c.71335T>A (TTN)	NP_001243779.1:p.Ser23779Thr
NM_001267550.2:c.76258T>A (TTN) MANE Select	NP_001254479.2:p.Ser25420Thr
NM_003319.4:c.49063T>A (TTN)	NP_003310.4:p.Ser16355Thr
NM_133378.4:c.68554T>A (TTN)	NP_596869.4:p.Ser22852Thr
NM_133432.3:c.49438T>A (TTN)	NP_597676.3:p.Ser16480Thr
NM_133437.4:c.49639T>A (TTN)	NP_597681.4:p.Ser16547Thr
NR_038271.1:n.447-1426A>T (TTN-AS1)
NR_038272.1:n.2044-12698A>T (TTN-AS1)
XM_011511729.1:c.75355T>A (TTN)	XP_011510031.1:p.Ser25119Thr
XM_011511730.1:c.49249T>A (TTN)	XP_011510032.1:p.Ser16417Thr
XM_011511731.1:c.49108T>A (TTN)	XP_011510033.1:p.Ser16370Thr
XM_017004819.1:c.75151T>A (TTN)	XP_016860308.1:p.Ser25051Thr
XM_017004820.1:c.70549T>A (TTN)	XP_016860309.1:p.Ser23517Thr
XM_017004821.1:c.70546T>A (TTN)	XP_016860310.1:p.Ser23516Thr
XM_017004822.1:c.67588T>A (TTN)	XP_016860311.1:p.Ser22530Thr
XM_017004823.1:c.49204T>A (TTN)	XP_016860312.1:p.Ser16402Thr
XM_024453094.1:c.70699T>A (TTN)	XP_024308862.1:p.Ser23567Thr
XM_024453095.1:c.70696T>A (TTN)	XP_024308863.1:p.Ser23566Thr
XM_024453096.1:c.70129T>A (TTN)	XP_024308864.1:p.Ser23377Thr
XM_024453097.1:c.67471T>A (TTN)	XP_024308865.1:p.Ser22491Thr
XM_024453098.1:c.67390T>A (TTN)	XP_024308866.1:p.Ser22464Thr
XM_024453099.1:c.49153T>A (TTN)	XP_024308867.1:p.Ser16385Thr
XM_024453100.1:c.39007T>A (TTN)	XP_024308868.1:p.Ser13003Thr