Canonical Allele Identifier: CA349612853

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178569102-G-A
• MyVariant Identifiers: chr2:g.179433829G>A (hg19) ; chr2:g.178569102G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178569102G>A , CM000664.2:g.178569102G>A	GRCh38
NC_000002.11:g.179433829G>A , CM000664.1:g.179433829G>A	GRCh37
NC_000002.10:g.179142075G>A	NCBI36
NG_011618.3:g.266701C>T , LRG_391:g.266701C>T
NG_051363.1:g.51276G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69326C>T (TTN)	ENSP00000343764.6:p.Ala23109Val
ENST00000342175.11:c.50411C>T (TTN)	ENSP00000340554.6:p.Ala16804Val
ENST00000359218.10:c.50210C>T (TTN)	ENSP00000352154.5:p.Ala16737Val
ENST00000342175.10:c.50411C>T (TTN)	ENSP00000340554.6:p.Ala16804Val
ENST00000342992.10:c.69326C>T (TTN)	ENSP00000343764.6:p.Ala23109Val
ENST00000359218.9:c.50210C>T (TTN)	ENSP00000352154.5:p.Ala16737Val
ENST00000460472.6:c.49835C>T (TTN)	ENSP00000434586.1:p.Ala16612Val
ENST00000589042.5:c.77030C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala25677Val
ENST00000591111.5:c.72107C>T (TTN)	ENSP00000465570.1:p.Ala24036Val
ENST00000615779.4:c.72107C>T (TTN)	ENSP00000483597.1:p.Ala24036Val
NM_001256850.1:c.72107C>T (TTN)	NP_001243779.1:p.Ala24036Val
NM_001267550.2:c.77030C>T (TTN) MANE Select	NP_001254479.2:p.Ala25677Val
NM_003319.4:c.49835C>T (TTN)	NP_003310.4:p.Ala16612Val
NM_133378.4:c.69326C>T (TTN)	NP_596869.4:p.Ala23109Val
NM_133432.3:c.50210C>T (TTN)	NP_597676.3:p.Ala16737Val
NM_133437.4:c.50411C>T (TTN)	NP_597681.4:p.Ala16804Val
NR_038271.1:n.447-2198G>A (TTN-AS1)
NR_038272.1:n.2044-13470G>A (TTN-AS1)
XM_011511729.1:c.76127C>T (TTN)	XP_011510031.1:p.Ala25376Val
XM_011511730.1:c.50021C>T (TTN)	XP_011510032.1:p.Ala16674Val
XM_011511731.1:c.49880C>T (TTN)	XP_011510033.1:p.Ala16627Val
XM_017004819.1:c.75923C>T (TTN)	XP_016860308.1:p.Ala25308Val
XM_017004820.1:c.71321C>T (TTN)	XP_016860309.1:p.Ala23774Val
XM_017004821.1:c.71318C>T (TTN)	XP_016860310.1:p.Ala23773Val
XM_017004822.1:c.68360C>T (TTN)	XP_016860311.1:p.Ala22787Val
XM_017004823.1:c.49976C>T (TTN)	XP_016860312.1:p.Ala16659Val
XM_024453094.1:c.71471C>T (TTN)	XP_024308862.1:p.Ala23824Val
XM_024453095.1:c.71468C>T (TTN)	XP_024308863.1:p.Ala23823Val
XM_024453096.1:c.70901C>T (TTN)	XP_024308864.1:p.Ala23634Val
XM_024453097.1:c.68243C>T (TTN)	XP_024308865.1:p.Ala22748Val
XM_024453098.1:c.68162C>T (TTN)	XP_024308866.1:p.Ala22721Val
XM_024453099.1:c.49925C>T (TTN)	XP_024308867.1:p.Ala16642Val
XM_024453100.1:c.39779C>T (TTN)	XP_024308868.1:p.Ala13260Val