Canonical Allele Identifier: CA349483633

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455853C>G (hg19) ; chr2:g.178591126C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591126C>G , CM000664.2:g.178591126C>G	GRCh38
NC_000002.11:g.179455853C>G , CM000664.1:g.179455853C>G	GRCh37
NC_000002.10:g.179164099C>G	NCBI36
NG_011618.3:g.244677G>C , LRG_391:g.244677G>C
NG_051363.1:g.73300C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52895G>C (TTN)	ENSP00000343764.6:p.Gly17632Ala
ENST00000342175.11:c.33980G>C (TTN)	ENSP00000340554.6:p.Gly11327Ala
ENST00000359218.10:c.33779G>C (TTN)	ENSP00000352154.5:p.Gly11260Ala
ENST00000342175.10:c.33980G>C (TTN)	ENSP00000340554.6:p.Gly11327Ala
ENST00000342992.10:c.52895G>C (TTN)	ENSP00000343764.6:p.Gly17632Ala
ENST00000359218.9:c.33779G>C (TTN)	ENSP00000352154.5:p.Gly11260Ala
ENST00000460472.6:c.33404G>C (TTN)	ENSP00000434586.1:p.Gly11135Ala
ENST00000589042.5:c.60599G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly20200Ala
ENST00000591111.5:c.55676G>C (TTN)	ENSP00000465570.1:p.Gly18559Ala
ENST00000615779.4:c.55676G>C (TTN)	ENSP00000483597.1:p.Gly18559Ala
NM_001256850.1:c.55676G>C (TTN)	NP_001243779.1:p.Gly18559Ala
NM_001267550.2:c.60599G>C (TTN) MANE Select	NP_001254479.2:p.Gly20200Ala
NM_003319.4:c.33404G>C (TTN)	NP_003310.4:p.Gly11135Ala
NM_133378.4:c.52895G>C (TTN)	NP_596869.4:p.Gly17632Ala
NM_133432.3:c.33779G>C (TTN)	NP_597676.3:p.Gly11260Ala
NM_133437.4:c.33980G>C (TTN)	NP_597681.4:p.Gly11327Ala
NR_038271.1:n.597-6470C>G (TTN-AS1)
NR_038272.1:n.3189-13C>G (TTN-AS1)
XM_011511729.1:c.59696G>C (TTN)	XP_011510031.1:p.Gly19899Ala
XM_011511730.1:c.33590G>C (TTN)	XP_011510032.1:p.Gly11197Ala
XM_011511731.1:c.33449G>C (TTN)	XP_011510033.1:p.Gly11150Ala
XM_017004819.1:c.59492G>C (TTN)	XP_016860308.1:p.Gly19831Ala
XM_017004820.1:c.54890G>C (TTN)	XP_016860309.1:p.Gly18297Ala
XM_017004821.1:c.54887G>C (TTN)	XP_016860310.1:p.Gly18296Ala
XM_017004822.1:c.51929G>C (TTN)	XP_016860311.1:p.Gly17310Ala
XM_017004823.1:c.33545G>C (TTN)	XP_016860312.1:p.Gly11182Ala
XM_024453094.1:c.55040G>C (TTN)	XP_024308862.1:p.Gly18347Ala
XM_024453095.1:c.55037G>C (TTN)	XP_024308863.1:p.Gly18346Ala
XM_024453096.1:c.54470G>C (TTN)	XP_024308864.1:p.Gly18157Ala
XM_024453097.1:c.51812G>C (TTN)	XP_024308865.1:p.Gly17271Ala
XM_024453098.1:c.51731G>C (TTN)	XP_024308866.1:p.Gly17244Ala
XM_024453099.1:c.33494G>C (TTN)	XP_024308867.1:p.Gly11165Ala
XM_024453100.1:c.23348G>C (TTN)	XP_024308868.1:p.Gly7783Ala