Canonical Allele Identifier: CA349585558

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179429983C>A (hg19) ; chr2:g.178565256C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178565256C>A , CM000664.2:g.178565256C>A	GRCh38
NC_000002.11:g.179429983C>A , CM000664.1:g.179429983C>A	GRCh37
NC_000002.10:g.179138229C>A	NCBI36
NG_011618.3:g.270547G>T , LRG_391:g.270547G>T
NG_051363.1:g.47430C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73172G>T (TTN)	ENSP00000343764.6:p.Gly24391Val
ENST00000342175.11:c.54257G>T (TTN)	ENSP00000340554.6:p.Gly18086Val
ENST00000359218.10:c.54056G>T (TTN)	ENSP00000352154.5:p.Gly18019Val
ENST00000342175.10:c.54257G>T (TTN)	ENSP00000340554.6:p.Gly18086Val
ENST00000342992.10:c.73172G>T (TTN)	ENSP00000343764.6:p.Gly24391Val
ENST00000359218.9:c.54056G>T (TTN)	ENSP00000352154.5:p.Gly18019Val
ENST00000460472.6:c.53681G>T (TTN)	ENSP00000434586.1:p.Gly17894Val
ENST00000589042.5:c.80876G>T (TTN) MANE Select	ENSP00000467141.1:p.Gly26959Val
ENST00000591111.5:c.75953G>T (TTN)	ENSP00000465570.1:p.Gly25318Val
ENST00000615779.4:c.75953G>T (TTN)	ENSP00000483597.1:p.Gly25318Val
NM_001256850.1:c.75953G>T (TTN)	NP_001243779.1:p.Gly25318Val
NM_001267550.2:c.80876G>T (TTN) MANE Select	NP_001254479.2:p.Gly26959Val
NM_003319.4:c.53681G>T (TTN)	NP_003310.4:p.Gly17894Val
NM_133378.4:c.73172G>T (TTN)	NP_596869.4:p.Gly24391Val
NM_133432.3:c.54056G>T (TTN)	NP_597676.3:p.Gly18019Val
NM_133437.4:c.54257G>T (TTN)	NP_597681.4:p.Gly18086Val
NR_038271.1:n.447-6044C>A (TTN-AS1)
NR_038272.1:n.2044-17316C>A (TTN-AS1)
XM_011511729.1:c.79973G>T (TTN)	XP_011510031.1:p.Gly26658Val
XM_011511730.1:c.53867G>T (TTN)	XP_011510032.1:p.Gly17956Val
XM_011511731.1:c.53726G>T (TTN)	XP_011510033.1:p.Gly17909Val
XM_017004819.1:c.79769G>T (TTN)	XP_016860308.1:p.Gly26590Val
XM_017004820.1:c.75167G>T (TTN)	XP_016860309.1:p.Gly25056Val
XM_017004821.1:c.75164G>T (TTN)	XP_016860310.1:p.Gly25055Val
XM_017004822.1:c.72206G>T (TTN)	XP_016860311.1:p.Gly24069Val
XM_017004823.1:c.53822G>T (TTN)	XP_016860312.1:p.Gly17941Val
XM_024453094.1:c.75317G>T (TTN)	XP_024308862.1:p.Gly25106Val
XM_024453095.1:c.75314G>T (TTN)	XP_024308863.1:p.Gly25105Val
XM_024453096.1:c.74747G>T (TTN)	XP_024308864.1:p.Gly24916Val
XM_024453097.1:c.72089G>T (TTN)	XP_024308865.1:p.Gly24030Val
XM_024453098.1:c.72008G>T (TTN)	XP_024308866.1:p.Gly24003Val
XM_024453099.1:c.53771G>T (TTN)	XP_024308867.1:p.Gly17924Val
XM_024453100.1:c.43625G>T (TTN)	XP_024308868.1:p.Gly14542Val