Canonical Allele Identifier: CA349600926

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432023A>G (hg19) ; chr2:g.178567296A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567296A>G , CM000664.2:g.178567296A>G	GRCh38
NC_000002.11:g.179432023A>G , CM000664.1:g.179432023A>G	GRCh37
NC_000002.10:g.179140269A>G	NCBI36
NG_011618.3:g.268507T>C , LRG_391:g.268507T>C
NG_051363.1:g.49470A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71132T>C (TTN)	ENSP00000343764.6:p.Val23711Ala
ENST00000342175.11:c.52217T>C (TTN)	ENSP00000340554.6:p.Val17406Ala
ENST00000359218.10:c.52016T>C (TTN)	ENSP00000352154.5:p.Val17339Ala
ENST00000342175.10:c.52217T>C (TTN)	ENSP00000340554.6:p.Val17406Ala
ENST00000342992.10:c.71132T>C (TTN)	ENSP00000343764.6:p.Val23711Ala
ENST00000359218.9:c.52016T>C (TTN)	ENSP00000352154.5:p.Val17339Ala
ENST00000460472.6:c.51641T>C (TTN)	ENSP00000434586.1:p.Val17214Ala
ENST00000589042.5:c.78836T>C (TTN) MANE Select	ENSP00000467141.1:p.Val26279Ala
ENST00000591111.5:c.73913T>C (TTN)	ENSP00000465570.1:p.Val24638Ala
ENST00000615779.4:c.73913T>C (TTN)	ENSP00000483597.1:p.Val24638Ala
NM_001256850.1:c.73913T>C (TTN)	NP_001243779.1:p.Val24638Ala
NM_001267550.2:c.78836T>C (TTN) MANE Select	NP_001254479.2:p.Val26279Ala
NM_003319.4:c.51641T>C (TTN)	NP_003310.4:p.Val17214Ala
NM_133378.4:c.71132T>C (TTN)	NP_596869.4:p.Val23711Ala
NM_133432.3:c.52016T>C (TTN)	NP_597676.3:p.Val17339Ala
NM_133437.4:c.52217T>C (TTN)	NP_597681.4:p.Val17406Ala
NR_038271.1:n.447-4004A>G (TTN-AS1)
NR_038272.1:n.2044-15276A>G (TTN-AS1)
XM_011511729.1:c.77933T>C (TTN)	XP_011510031.1:p.Val25978Ala
XM_011511730.1:c.51827T>C (TTN)	XP_011510032.1:p.Val17276Ala
XM_011511731.1:c.51686T>C (TTN)	XP_011510033.1:p.Val17229Ala
XM_017004819.1:c.77729T>C (TTN)	XP_016860308.1:p.Val25910Ala
XM_017004820.1:c.73127T>C (TTN)	XP_016860309.1:p.Val24376Ala
XM_017004821.1:c.73124T>C (TTN)	XP_016860310.1:p.Val24375Ala
XM_017004822.1:c.70166T>C (TTN)	XP_016860311.1:p.Val23389Ala
XM_017004823.1:c.51782T>C (TTN)	XP_016860312.1:p.Val17261Ala
XM_024453094.1:c.73277T>C (TTN)	XP_024308862.1:p.Val24426Ala
XM_024453095.1:c.73274T>C (TTN)	XP_024308863.1:p.Val24425Ala
XM_024453096.1:c.72707T>C (TTN)	XP_024308864.1:p.Val24236Ala
XM_024453097.1:c.70049T>C (TTN)	XP_024308865.1:p.Val23350Ala
XM_024453098.1:c.69968T>C (TTN)	XP_024308866.1:p.Val23323Ala
XM_024453099.1:c.51731T>C (TTN)	XP_024308867.1:p.Val17244Ala
XM_024453100.1:c.41585T>C (TTN)	XP_024308868.1:p.Val13862Ala