Canonical Allele Identifier: CA349446287

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179408060C>A (hg19) ; chr2:g.178543333C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178543333C>A , CM000664.2:g.178543333C>A	GRCh38
NC_000002.11:g.179408060C>A , CM000664.1:g.179408060C>A	GRCh37
NC_000002.10:g.179116306C>A	NCBI36
NG_011618.3:g.292470G>T , LRG_391:g.292470G>T
NG_051363.1:g.25507C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.88936G>T (TTN)	ENSP00000343764.6:p.Val29646Phe
ENST00000342175.11:c.70021G>T (TTN)	ENSP00000340554.6:p.Val23341Phe
ENST00000359218.10:c.69820G>T (TTN)	ENSP00000352154.5:p.Val23274Phe
ENST00000342175.10:c.70021G>T (TTN)	ENSP00000340554.6:p.Val23341Phe
ENST00000342992.10:c.88936G>T (TTN)	ENSP00000343764.6:p.Val29646Phe
ENST00000359218.9:c.69820G>T (TTN)	ENSP00000352154.5:p.Val23274Phe
ENST00000460472.6:c.69445G>T (TTN)	ENSP00000434586.1:p.Val23149Phe
ENST00000589042.5:c.96640G>T (TTN) MANE Select	ENSP00000467141.1:p.Val32214Phe
ENST00000591111.5:c.91717G>T (TTN)	ENSP00000465570.1:p.Val30573Phe
ENST00000615779.4:c.91717G>T (TTN)	ENSP00000483597.1:p.Val30573Phe
NM_001256850.1:c.91717G>T (TTN)	NP_001243779.1:p.Val30573Phe
NM_001267550.2:c.96640G>T (TTN) MANE Select	NP_001254479.2:p.Val32214Phe
NM_003319.4:c.69445G>T (TTN)	NP_003310.4:p.Val23149Phe
NM_133378.4:c.88936G>T (TTN)	NP_596869.4:p.Val29646Phe
NM_133432.3:c.69820G>T (TTN)	NP_597676.3:p.Val23274Phe
NM_133437.4:c.70021G>T (TTN)	NP_597681.4:p.Val23341Phe
NR_038271.1:n.446+19697C>A (TTN-AS1)
NR_038272.1:n.2043+972C>A (TTN-AS1)
XM_011511729.1:c.95737G>T (TTN)	XP_011510031.1:p.Val31913Phe
XM_011511730.1:c.69631G>T (TTN)	XP_011510032.1:p.Val23211Phe
XM_011511731.1:c.69490G>T (TTN)	XP_011510033.1:p.Val23164Phe
XM_017004819.1:c.95533G>T (TTN)	XP_016860308.1:p.Val31845Phe
XM_017004820.1:c.90931G>T (TTN)	XP_016860309.1:p.Val30311Phe
XM_017004821.1:c.90928G>T (TTN)	XP_016860310.1:p.Val30310Phe
XM_017004822.1:c.87970G>T (TTN)	XP_016860311.1:p.Val29324Phe
XM_017004823.1:c.69586G>T (TTN)	XP_016860312.1:p.Val23196Phe
XM_024453094.1:c.91081G>T (TTN)	XP_024308862.1:p.Val30361Phe
XM_024453095.1:c.91078G>T (TTN)	XP_024308863.1:p.Val30360Phe
XM_024453096.1:c.90511G>T (TTN)	XP_024308864.1:p.Val30171Phe
XM_024453097.1:c.87853G>T (TTN)	XP_024308865.1:p.Val29285Phe
XM_024453098.1:c.87772G>T (TTN)	XP_024308866.1:p.Val29258Phe
XM_024453099.1:c.69535G>T (TTN)	XP_024308867.1:p.Val23179Phe
XM_024453100.1:c.59389G>T (TTN)	XP_024308868.1:p.Val19797Phe