Canonical Allele Identifier: CA349601301

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432113G>A (hg19) ; chr2:g.178567386G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567386G>A , CM000664.2:g.178567386G>A	GRCh38
NC_000002.11:g.179432113G>A , CM000664.1:g.179432113G>A	GRCh37
NC_000002.10:g.179140359G>A	NCBI36
NG_011618.3:g.268417C>T , LRG_391:g.268417C>T
NG_051363.1:g.49560G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71042C>T (TTN)	ENSP00000343764.6:p.Ala23681Val
ENST00000342175.11:c.52127C>T (TTN)	ENSP00000340554.6:p.Ala17376Val
ENST00000359218.10:c.51926C>T (TTN)	ENSP00000352154.5:p.Ala17309Val
ENST00000342175.10:c.52127C>T (TTN)	ENSP00000340554.6:p.Ala17376Val
ENST00000342992.10:c.71042C>T (TTN)	ENSP00000343764.6:p.Ala23681Val
ENST00000359218.9:c.51926C>T (TTN)	ENSP00000352154.5:p.Ala17309Val
ENST00000460472.6:c.51551C>T (TTN)	ENSP00000434586.1:p.Ala17184Val
ENST00000589042.5:c.78746C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala26249Val
ENST00000591111.5:c.73823C>T (TTN)	ENSP00000465570.1:p.Ala24608Val
ENST00000615779.4:c.73823C>T (TTN)	ENSP00000483597.1:p.Ala24608Val
NM_001256850.1:c.73823C>T (TTN)	NP_001243779.1:p.Ala24608Val
NM_001267550.2:c.78746C>T (TTN) MANE Select	NP_001254479.2:p.Ala26249Val
NM_003319.4:c.51551C>T (TTN)	NP_003310.4:p.Ala17184Val
NM_133378.4:c.71042C>T (TTN)	NP_596869.4:p.Ala23681Val
NM_133432.3:c.51926C>T (TTN)	NP_597676.3:p.Ala17309Val
NM_133437.4:c.52127C>T (TTN)	NP_597681.4:p.Ala17376Val
NR_038271.1:n.447-3914G>A (TTN-AS1)
NR_038272.1:n.2044-15186G>A (TTN-AS1)
XM_011511729.1:c.77843C>T (TTN)	XP_011510031.1:p.Ala25948Val
XM_011511730.1:c.51737C>T (TTN)	XP_011510032.1:p.Ala17246Val
XM_011511731.1:c.51596C>T (TTN)	XP_011510033.1:p.Ala17199Val
XM_017004819.1:c.77639C>T (TTN)	XP_016860308.1:p.Ala25880Val
XM_017004820.1:c.73037C>T (TTN)	XP_016860309.1:p.Ala24346Val
XM_017004821.1:c.73034C>T (TTN)	XP_016860310.1:p.Ala24345Val
XM_017004822.1:c.70076C>T (TTN)	XP_016860311.1:p.Ala23359Val
XM_017004823.1:c.51692C>T (TTN)	XP_016860312.1:p.Ala17231Val
XM_024453094.1:c.73187C>T (TTN)	XP_024308862.1:p.Ala24396Val
XM_024453095.1:c.73184C>T (TTN)	XP_024308863.1:p.Ala24395Val
XM_024453096.1:c.72617C>T (TTN)	XP_024308864.1:p.Ala24206Val
XM_024453097.1:c.69959C>T (TTN)	XP_024308865.1:p.Ala23320Val
XM_024453098.1:c.69878C>T (TTN)	XP_024308866.1:p.Ala23293Val
XM_024453099.1:c.51641C>T (TTN)	XP_024308867.1:p.Ala17214Val
XM_024453100.1:c.41495C>T (TTN)	XP_024308868.1:p.Ala13832Val