Canonical Allele Identifier: CA349544034

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178559731-C-A
• MyVariant Identifiers: chr2:g.179424458C>A (hg19) ; chr2:g.178559731C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178559731C>A , CM000664.2:g.178559731C>A	GRCh38
NC_000002.11:g.179424458C>A , CM000664.1:g.179424458C>A	GRCh37
NC_000002.10:g.179132704C>A	NCBI36
NG_011618.3:g.276072G>T , LRG_391:g.276072G>T
NG_051363.1:g.41905C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.78697G>T (TTN)	ENSP00000343764.6:p.Val26233Phe
ENST00000342175.11:c.59782G>T (TTN)	ENSP00000340554.6:p.Val19928Phe
ENST00000359218.10:c.59581G>T (TTN)	ENSP00000352154.5:p.Val19861Phe
ENST00000342175.10:c.59782G>T (TTN)	ENSP00000340554.6:p.Val19928Phe
ENST00000342992.10:c.78697G>T (TTN)	ENSP00000343764.6:p.Val26233Phe
ENST00000359218.9:c.59581G>T (TTN)	ENSP00000352154.5:p.Val19861Phe
ENST00000460472.6:c.59206G>T (TTN)	ENSP00000434586.1:p.Val19736Phe
ENST00000589042.5:c.86401G>T (TTN) MANE Select	ENSP00000467141.1:p.Val28801Phe
ENST00000591111.5:c.81478G>T (TTN)	ENSP00000465570.1:p.Val27160Phe
ENST00000615779.4:c.81478G>T (TTN)	ENSP00000483597.1:p.Val27160Phe
NM_001256850.1:c.81478G>T (TTN)	NP_001243779.1:p.Val27160Phe
NM_001267550.2:c.86401G>T (TTN) MANE Select	NP_001254479.2:p.Val28801Phe
NM_003319.4:c.59206G>T (TTN)	NP_003310.4:p.Val19736Phe
NM_133378.4:c.78697G>T (TTN)	NP_596869.4:p.Val26233Phe
NM_133432.3:c.59581G>T (TTN)	NP_597676.3:p.Val19861Phe
NM_133437.4:c.59782G>T (TTN)	NP_597681.4:p.Val19928Phe
NR_038271.1:n.447-11569C>A (TTN-AS1)
NR_038272.1:n.2043+17370C>A (TTN-AS1)
XM_011511729.1:c.85498G>T (TTN)	XP_011510031.1:p.Val28500Phe
XM_011511730.1:c.59392G>T (TTN)	XP_011510032.1:p.Val19798Phe
XM_011511731.1:c.59251G>T (TTN)	XP_011510033.1:p.Val19751Phe
XM_017004819.1:c.85294G>T (TTN)	XP_016860308.1:p.Val28432Phe
XM_017004820.1:c.80692G>T (TTN)	XP_016860309.1:p.Val26898Phe
XM_017004821.1:c.80689G>T (TTN)	XP_016860310.1:p.Val26897Phe
XM_017004822.1:c.77731G>T (TTN)	XP_016860311.1:p.Val25911Phe
XM_017004823.1:c.59347G>T (TTN)	XP_016860312.1:p.Val19783Phe
XM_024453094.1:c.80842G>T (TTN)	XP_024308862.1:p.Val26948Phe
XM_024453095.1:c.80839G>T (TTN)	XP_024308863.1:p.Val26947Phe
XM_024453096.1:c.80272G>T (TTN)	XP_024308864.1:p.Val26758Phe
XM_024453097.1:c.77614G>T (TTN)	XP_024308865.1:p.Val25872Phe
XM_024453098.1:c.77533G>T (TTN)	XP_024308866.1:p.Val25845Phe
XM_024453099.1:c.59296G>T (TTN)	XP_024308867.1:p.Val19766Phe
XM_024453100.1:c.49150G>T (TTN)	XP_024308868.1:p.Val16384Phe