Canonical Allele Identifier: CA349479914

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179412467C>G (hg19) ; chr2:g.178547740C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178547740C>G , CM000664.2:g.178547740C>G	GRCh38
NC_000002.11:g.179412467C>G , CM000664.1:g.179412467C>G	GRCh37
NC_000002.10:g.179120713C>G	NCBI36
NG_011618.3:g.288063G>C , LRG_391:g.288063G>C
NG_051363.1:g.29914C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86182G>C (TTN)	ENSP00000343764.6:p.Val28728Leu
ENST00000342175.11:c.67267G>C (TTN)	ENSP00000340554.6:p.Val22423Leu
ENST00000359218.10:c.67066G>C (TTN)	ENSP00000352154.5:p.Val22356Leu
ENST00000342175.10:c.67267G>C (TTN)	ENSP00000340554.6:p.Val22423Leu
ENST00000342992.10:c.86182G>C (TTN)	ENSP00000343764.6:p.Val28728Leu
ENST00000359218.9:c.67066G>C (TTN)	ENSP00000352154.5:p.Val22356Leu
ENST00000460472.6:c.66691G>C (TTN)	ENSP00000434586.1:p.Val22231Leu
ENST00000589042.5:c.93886G>C (TTN) MANE Select	ENSP00000467141.1:p.Val31296Leu
ENST00000591111.5:c.88963G>C (TTN)	ENSP00000465570.1:p.Val29655Leu
ENST00000615779.4:c.88963G>C (TTN)	ENSP00000483597.1:p.Val29655Leu
NM_001256850.1:c.88963G>C (TTN)	NP_001243779.1:p.Val29655Leu
NM_001267550.2:c.93886G>C (TTN) MANE Select	NP_001254479.2:p.Val31296Leu
NM_003319.4:c.66691G>C (TTN)	NP_003310.4:p.Val22231Leu
NM_133378.4:c.86182G>C (TTN)	NP_596869.4:p.Val28728Leu
NM_133432.3:c.67066G>C (TTN)	NP_597676.3:p.Val22356Leu
NM_133437.4:c.67267G>C (TTN)	NP_597681.4:p.Val22423Leu
NR_038271.1:n.447-23560C>G (TTN-AS1)
NR_038272.1:n.2043+5379C>G (TTN-AS1)
XM_011511729.1:c.92983G>C (TTN)	XP_011510031.1:p.Val30995Leu
XM_011511730.1:c.66877G>C (TTN)	XP_011510032.1:p.Val22293Leu
XM_011511731.1:c.66736G>C (TTN)	XP_011510033.1:p.Val22246Leu
XM_017004819.1:c.92779G>C (TTN)	XP_016860308.1:p.Val30927Leu
XM_017004820.1:c.88177G>C (TTN)	XP_016860309.1:p.Val29393Leu
XM_017004821.1:c.88174G>C (TTN)	XP_016860310.1:p.Val29392Leu
XM_017004822.1:c.85216G>C (TTN)	XP_016860311.1:p.Val28406Leu
XM_017004823.1:c.66832G>C (TTN)	XP_016860312.1:p.Val22278Leu
XM_024453094.1:c.88327G>C (TTN)	XP_024308862.1:p.Val29443Leu
XM_024453095.1:c.88324G>C (TTN)	XP_024308863.1:p.Val29442Leu
XM_024453096.1:c.87757G>C (TTN)	XP_024308864.1:p.Val29253Leu
XM_024453097.1:c.85099G>C (TTN)	XP_024308865.1:p.Val28367Leu
XM_024453098.1:c.85018G>C (TTN)	XP_024308866.1:p.Val28340Leu
XM_024453099.1:c.66781G>C (TTN)	XP_024308867.1:p.Val22261Leu
XM_024453100.1:c.56635G>C (TTN)	XP_024308868.1:p.Val18879Leu