Canonical Allele Identifier: CA349443770

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179451509T>A (hg19) ; chr2:g.178586782T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178586782T>A , CM000664.2:g.178586782T>A	GRCh38
NC_000002.11:g.179451509T>A , CM000664.1:g.179451509T>A	GRCh37
NC_000002.10:g.179159755T>A	NCBI36
NG_011618.3:g.249021A>T , LRG_391:g.249021A>T
NG_051363.1:g.68956T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.56415A>T (TTN)	ENSP00000343764.6:p.Leu18805Phe
ENST00000342175.11:c.37500A>T (TTN)	ENSP00000340554.6:p.Leu12500Phe
ENST00000359218.10:c.37299A>T (TTN)	ENSP00000352154.5:p.Leu12433Phe
ENST00000342175.10:c.37500A>T (TTN)	ENSP00000340554.6:p.Leu12500Phe
ENST00000342992.10:c.56415A>T (TTN)	ENSP00000343764.6:p.Leu18805Phe
ENST00000359218.9:c.37299A>T (TTN)	ENSP00000352154.5:p.Leu12433Phe
ENST00000460472.6:c.36924A>T (TTN)	ENSP00000434586.1:p.Leu12308Phe
ENST00000589042.5:c.64119A>T (TTN) MANE Select	ENSP00000467141.1:p.Leu21373Phe
ENST00000591111.5:c.59196A>T (TTN)	ENSP00000465570.1:p.Leu19732Phe
ENST00000615779.4:c.59196A>T (TTN)	ENSP00000483597.1:p.Leu19732Phe
NM_001256850.1:c.59196A>T (TTN)	NP_001243779.1:p.Leu19732Phe
NM_001267550.2:c.64119A>T (TTN) MANE Select	NP_001254479.2:p.Leu21373Phe
NM_003319.4:c.36924A>T (TTN)	NP_003310.4:p.Leu12308Phe
NM_133378.4:c.56415A>T (TTN)	NP_596869.4:p.Leu18805Phe
NM_133432.3:c.37299A>T (TTN)	NP_597676.3:p.Leu12433Phe
NM_133437.4:c.37500A>T (TTN)	NP_597681.4:p.Leu12500Phe
NR_038271.1:n.597-10814T>A (TTN-AS1)
NR_038272.1:n.3188+1789T>A (TTN-AS1)
XM_011511729.1:c.63216A>T (TTN)	XP_011510031.1:p.Leu21072Phe
XM_011511730.1:c.37110A>T (TTN)	XP_011510032.1:p.Leu12370Phe
XM_011511731.1:c.36969A>T (TTN)	XP_011510033.1:p.Leu12323Phe
XM_017004819.1:c.63012A>T (TTN)	XP_016860308.1:p.Leu21004Phe
XM_017004820.1:c.58410A>T (TTN)	XP_016860309.1:p.Leu19470Phe
XM_017004821.1:c.58407A>T (TTN)	XP_016860310.1:p.Leu19469Phe
XM_017004822.1:c.55449A>T (TTN)	XP_016860311.1:p.Leu18483Phe
XM_017004823.1:c.37065A>T (TTN)	XP_016860312.1:p.Leu12355Phe
XM_024453094.1:c.58560A>T (TTN)	XP_024308862.1:p.Leu19520Phe
XM_024453095.1:c.58557A>T (TTN)	XP_024308863.1:p.Leu19519Phe
XM_024453096.1:c.57990A>T (TTN)	XP_024308864.1:p.Leu19330Phe
XM_024453097.1:c.55332A>T (TTN)	XP_024308865.1:p.Leu18444Phe
XM_024453098.1:c.55251A>T (TTN)	XP_024308866.1:p.Leu18417Phe
XM_024453099.1:c.37014A>T (TTN)	XP_024308867.1:p.Leu12338Phe
XM_024453100.1:c.26868A>T (TTN)	XP_024308868.1:p.Leu8956Phe