Canonical Allele Identifier: CA349483624

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179455850C>G (hg19) ; chr2:g.178591123C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591123C>G , CM000664.2:g.178591123C>G	GRCh38
NC_000002.11:g.179455850C>G , CM000664.1:g.179455850C>G	GRCh37
NC_000002.10:g.179164096C>G	NCBI36
NG_011618.3:g.244680G>C , LRG_391:g.244680G>C
NG_051363.1:g.73297C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.52898G>C (TTN)	ENSP00000343764.6:p.Gly17633Ala
ENST00000342175.11:c.33983G>C (TTN)	ENSP00000340554.6:p.Gly11328Ala
ENST00000359218.10:c.33782G>C (TTN)	ENSP00000352154.5:p.Gly11261Ala
ENST00000342175.10:c.33983G>C (TTN)	ENSP00000340554.6:p.Gly11328Ala
ENST00000342992.10:c.52898G>C (TTN)	ENSP00000343764.6:p.Gly17633Ala
ENST00000359218.9:c.33782G>C (TTN)	ENSP00000352154.5:p.Gly11261Ala
ENST00000460472.6:c.33407G>C (TTN)	ENSP00000434586.1:p.Gly11136Ala
ENST00000589042.5:c.60602G>C (TTN) MANE Select	ENSP00000467141.1:p.Gly20201Ala
ENST00000591111.5:c.55679G>C (TTN)	ENSP00000465570.1:p.Gly18560Ala
ENST00000615779.4:c.55679G>C (TTN)	ENSP00000483597.1:p.Gly18560Ala
NM_001256850.1:c.55679G>C (TTN)	NP_001243779.1:p.Gly18560Ala
NM_001267550.2:c.60602G>C (TTN) MANE Select	NP_001254479.2:p.Gly20201Ala
NM_003319.4:c.33407G>C (TTN)	NP_003310.4:p.Gly11136Ala
NM_133378.4:c.52898G>C (TTN)	NP_596869.4:p.Gly17633Ala
NM_133432.3:c.33782G>C (TTN)	NP_597676.3:p.Gly11261Ala
NM_133437.4:c.33983G>C (TTN)	NP_597681.4:p.Gly11328Ala
NR_038271.1:n.597-6473C>G (TTN-AS1)
NR_038272.1:n.3189-16C>G (TTN-AS1)
XM_011511729.1:c.59699G>C (TTN)	XP_011510031.1:p.Gly19900Ala
XM_011511730.1:c.33593G>C (TTN)	XP_011510032.1:p.Gly11198Ala
XM_011511731.1:c.33452G>C (TTN)	XP_011510033.1:p.Gly11151Ala
XM_017004819.1:c.59495G>C (TTN)	XP_016860308.1:p.Gly19832Ala
XM_017004820.1:c.54893G>C (TTN)	XP_016860309.1:p.Gly18298Ala
XM_017004821.1:c.54890G>C (TTN)	XP_016860310.1:p.Gly18297Ala
XM_017004822.1:c.51932G>C (TTN)	XP_016860311.1:p.Gly17311Ala
XM_017004823.1:c.33548G>C (TTN)	XP_016860312.1:p.Gly11183Ala
XM_024453094.1:c.55043G>C (TTN)	XP_024308862.1:p.Gly18348Ala
XM_024453095.1:c.55040G>C (TTN)	XP_024308863.1:p.Gly18347Ala
XM_024453096.1:c.54473G>C (TTN)	XP_024308864.1:p.Gly18158Ala
XM_024453097.1:c.51815G>C (TTN)	XP_024308865.1:p.Gly17272Ala
XM_024453098.1:c.51734G>C (TTN)	XP_024308866.1:p.Gly17245Ala
XM_024453099.1:c.33497G>C (TTN)	XP_024308867.1:p.Gly11166Ala
XM_024453100.1:c.23351G>C (TTN)	XP_024308868.1:p.Gly7784Ala