Canonical Allele Identifier: CA349601311

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178567387-C-T
• MyVariant Identifiers: chr2:g.179432114C>T (hg19) ; chr2:g.178567387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567387C>T , CM000664.2:g.178567387C>T	GRCh38
NC_000002.11:g.179432114C>T , CM000664.1:g.179432114C>T	GRCh37
NC_000002.10:g.179140360C>T	NCBI36
NG_011618.3:g.268416G>A , LRG_391:g.268416G>A
NG_051363.1:g.49561C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71041G>A (TTN)	ENSP00000343764.6:p.Ala23681Thr
ENST00000342175.11:c.52126G>A (TTN)	ENSP00000340554.6:p.Ala17376Thr
ENST00000359218.10:c.51925G>A (TTN)	ENSP00000352154.5:p.Ala17309Thr
ENST00000342175.10:c.52126G>A (TTN)	ENSP00000340554.6:p.Ala17376Thr
ENST00000342992.10:c.71041G>A (TTN)	ENSP00000343764.6:p.Ala23681Thr
ENST00000359218.9:c.51925G>A (TTN)	ENSP00000352154.5:p.Ala17309Thr
ENST00000460472.6:c.51550G>A (TTN)	ENSP00000434586.1:p.Ala17184Thr
ENST00000589042.5:c.78745G>A (TTN) MANE Select	ENSP00000467141.1:p.Ala26249Thr
ENST00000591111.5:c.73822G>A (TTN)	ENSP00000465570.1:p.Ala24608Thr
ENST00000615779.4:c.73822G>A (TTN)	ENSP00000483597.1:p.Ala24608Thr
NM_001256850.1:c.73822G>A (TTN)	NP_001243779.1:p.Ala24608Thr
NM_001267550.2:c.78745G>A (TTN) MANE Select	NP_001254479.2:p.Ala26249Thr
NM_003319.4:c.51550G>A (TTN)	NP_003310.4:p.Ala17184Thr
NM_133378.4:c.71041G>A (TTN)	NP_596869.4:p.Ala23681Thr
NM_133432.3:c.51925G>A (TTN)	NP_597676.3:p.Ala17309Thr
NM_133437.4:c.52126G>A (TTN)	NP_597681.4:p.Ala17376Thr
NR_038271.1:n.447-3913C>T (TTN-AS1)
NR_038272.1:n.2044-15185C>T (TTN-AS1)
XM_011511729.1:c.77842G>A (TTN)	XP_011510031.1:p.Ala25948Thr
XM_011511730.1:c.51736G>A (TTN)	XP_011510032.1:p.Ala17246Thr
XM_011511731.1:c.51595G>A (TTN)	XP_011510033.1:p.Ala17199Thr
XM_017004819.1:c.77638G>A (TTN)	XP_016860308.1:p.Ala25880Thr
XM_017004820.1:c.73036G>A (TTN)	XP_016860309.1:p.Ala24346Thr
XM_017004821.1:c.73033G>A (TTN)	XP_016860310.1:p.Ala24345Thr
XM_017004822.1:c.70075G>A (TTN)	XP_016860311.1:p.Ala23359Thr
XM_017004823.1:c.51691G>A (TTN)	XP_016860312.1:p.Ala17231Thr
XM_024453094.1:c.73186G>A (TTN)	XP_024308862.1:p.Ala24396Thr
XM_024453095.1:c.73183G>A (TTN)	XP_024308863.1:p.Ala24395Thr
XM_024453096.1:c.72616G>A (TTN)	XP_024308864.1:p.Ala24206Thr
XM_024453097.1:c.69958G>A (TTN)	XP_024308865.1:p.Ala23320Thr
XM_024453098.1:c.69877G>A (TTN)	XP_024308866.1:p.Ala23293Thr
XM_024453099.1:c.51640G>A (TTN)	XP_024308867.1:p.Ala17214Thr
XM_024453100.1:c.41494G>A (TTN)	XP_024308868.1:p.Ala13832Thr