Canonical Allele Identifier: CA349605021

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179478658G>T (hg19) ; chr2:g.178613931G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178613931G>T , CM000664.2:g.178613931G>T	GRCh38
NC_000002.11:g.179478658G>T , CM000664.1:g.179478658G>T	GRCh37
NC_000002.10:g.179186903G>T	NCBI36
NG_011618.3:g.221872C>A , LRG_391:g.221872C>A
NG_051363.1:g.96105G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.41648C>A (TTN)	ENSP00000343764.6:p.Pro13883His
ENST00000342175.11:c.22733C>A (TTN)	ENSP00000340554.6:p.Pro7578His
ENST00000359218.10:c.22532C>A (TTN)	ENSP00000352154.5:p.Pro7511His
ENST00000342175.10:c.22733C>A (TTN)	ENSP00000340554.6:p.Pro7578His
ENST00000342992.10:c.41648C>A (TTN)	ENSP00000343764.6:p.Pro13883His
ENST00000359218.9:c.22532C>A (TTN)	ENSP00000352154.5:p.Pro7511His
ENST00000460472.6:c.22157C>A (TTN)	ENSP00000434586.1:p.Pro7386His
ENST00000589042.5:c.49352C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro16451His
ENST00000591111.5:c.44429C>A (TTN)	ENSP00000465570.1:p.Pro14810His
ENST00000615779.4:c.44429C>A (TTN)	ENSP00000483597.1:p.Pro14810His
NM_001256850.1:c.44429C>A (TTN)	NP_001243779.1:p.Pro14810His
NM_001267550.2:c.49352C>A (TTN) MANE Select	NP_001254479.2:p.Pro16451His
NM_003319.4:c.22157C>A (TTN)	NP_003310.4:p.Pro7386His
NM_133378.4:c.41648C>A (TTN)	NP_596869.4:p.Pro13883His
NM_133432.3:c.22532C>A (TTN)	NP_597676.3:p.Pro7511His
NM_133437.4:c.22733C>A (TTN)	NP_597681.4:p.Pro7578His
NR_038271.1:n.783-104G>T (TTN-AS1)
XM_011511729.1:c.48449C>A (TTN)	XP_011510031.1:p.Pro16150His
XM_011511730.1:c.22343C>A (TTN)	XP_011510032.1:p.Pro7448His
XM_011511731.1:c.22202C>A (TTN)	XP_011510033.1:p.Pro7401His
XM_017004819.1:c.48245C>A (TTN)	XP_016860308.1:p.Pro16082His
XM_017004820.1:c.43643C>A (TTN)	XP_016860309.1:p.Pro14548His
XM_017004821.1:c.43640C>A (TTN)	XP_016860310.1:p.Pro14547His
XM_017004822.1:c.40682C>A (TTN)	XP_016860311.1:p.Pro13561His
XM_017004823.1:c.22298C>A (TTN)	XP_016860312.1:p.Pro7433His
XM_024453094.1:c.43793C>A (TTN)	XP_024308862.1:p.Pro14598His
XM_024453095.1:c.43790C>A (TTN)	XP_024308863.1:p.Pro14597His
XM_024453096.1:c.43223C>A (TTN)	XP_024308864.1:p.Pro14408His
XM_024453097.1:c.40565C>A (TTN)	XP_024308865.1:p.Pro13522His
XM_024453098.1:c.40484C>A (TTN)	XP_024308866.1:p.Pro13495His
XM_024453099.1:c.22247C>A (TTN)	XP_024308867.1:p.Pro7416His
XM_024453100.1:c.12101C>A (TTN)	XP_024308868.1:p.Pro4034His