Canonical Allele Identifier: CA349605008

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178613931-G-A
• MyVariant Identifiers: chr2:g.179478658G>A (hg19) ; chr2:g.178613931G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.41648C>T (TTN)	ENSP00000343764.6:p.Pro13883Leu
ENST00000342175.11:c.22733C>T (TTN)	ENSP00000340554.6:p.Pro7578Leu
ENST00000359218.10:c.22532C>T (TTN)	ENSP00000352154.5:p.Pro7511Leu
ENST00000342175.10:c.22733C>T (TTN)	ENSP00000340554.6:p.Pro7578Leu
ENST00000342992.10:c.41648C>T (TTN)	ENSP00000343764.6:p.Pro13883Leu
ENST00000359218.9:c.22532C>T (TTN)	ENSP00000352154.5:p.Pro7511Leu
ENST00000460472.6:c.22157C>T (TTN)	ENSP00000434586.1:p.Pro7386Leu
ENST00000589042.5:c.49352C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro16451Leu
ENST00000591111.5:c.44429C>T (TTN)	ENSP00000465570.1:p.Pro14810Leu
ENST00000615779.4:c.44429C>T (TTN)	ENSP00000483597.1:p.Pro14810Leu
NM_001256850.1:c.44429C>T (TTN)	NP_001243779.1:p.Pro14810Leu
NM_001267550.2:c.49352C>T (TTN) MANE Select	NP_001254479.2:p.Pro16451Leu
NM_003319.4:c.22157C>T (TTN)	NP_003310.4:p.Pro7386Leu
NM_133378.4:c.41648C>T (TTN)	NP_596869.4:p.Pro13883Leu
NM_133432.3:c.22532C>T (TTN)	NP_597676.3:p.Pro7511Leu
NM_133437.4:c.22733C>T (TTN)	NP_597681.4:p.Pro7578Leu
NR_038271.1:n.783-104G>A (TTN-AS1)
XM_011511729.1:c.48449C>T (TTN)	XP_011510031.1:p.Pro16150Leu
XM_011511730.1:c.22343C>T (TTN)	XP_011510032.1:p.Pro7448Leu
XM_011511731.1:c.22202C>T (TTN)	XP_011510033.1:p.Pro7401Leu
XM_017004819.1:c.48245C>T (TTN)	XP_016860308.1:p.Pro16082Leu
XM_017004820.1:c.43643C>T (TTN)	XP_016860309.1:p.Pro14548Leu
XM_017004821.1:c.43640C>T (TTN)	XP_016860310.1:p.Pro14547Leu
XM_017004822.1:c.40682C>T (TTN)	XP_016860311.1:p.Pro13561Leu
XM_017004823.1:c.22298C>T (TTN)	XP_016860312.1:p.Pro7433Leu
XM_024453094.1:c.43793C>T (TTN)	XP_024308862.1:p.Pro14598Leu
XM_024453095.1:c.43790C>T (TTN)	XP_024308863.1:p.Pro14597Leu
XM_024453096.1:c.43223C>T (TTN)	XP_024308864.1:p.Pro14408Leu
XM_024453097.1:c.40565C>T (TTN)	XP_024308865.1:p.Pro13522Leu
XM_024453098.1:c.40484C>T (TTN)	XP_024308866.1:p.Pro13495Leu
XM_024453099.1:c.22247C>T (TTN)	XP_024308867.1:p.Pro7416Leu
XM_024453100.1:c.12101C>T (TTN)	XP_024308868.1:p.Pro4034Leu