Canonical Allele Identifier: CA349611928

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179433657A>C (hg19) ; chr2:g.178568930A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178568930A>C , CM000664.2:g.178568930A>C	GRCh38
NC_000002.11:g.179433657A>C , CM000664.1:g.179433657A>C	GRCh37
NC_000002.10:g.179141903A>C	NCBI36
NG_011618.3:g.266873T>G , LRG_391:g.266873T>G
NG_051363.1:g.51104A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.69498T>G (TTN)	ENSP00000343764.6:p.Ile23166Met
ENST00000342175.11:c.50583T>G (TTN)	ENSP00000340554.6:p.Ile16861Met
ENST00000359218.10:c.50382T>G (TTN)	ENSP00000352154.5:p.Ile16794Met
ENST00000342175.10:c.50583T>G (TTN)	ENSP00000340554.6:p.Ile16861Met
ENST00000342992.10:c.69498T>G (TTN)	ENSP00000343764.6:p.Ile23166Met
ENST00000359218.9:c.50382T>G (TTN)	ENSP00000352154.5:p.Ile16794Met
ENST00000460472.6:c.50007T>G (TTN)	ENSP00000434586.1:p.Ile16669Met
ENST00000589042.5:c.77202T>G (TTN) MANE Select	ENSP00000467141.1:p.Ile25734Met
ENST00000591111.5:c.72279T>G (TTN)	ENSP00000465570.1:p.Ile24093Met
ENST00000615779.4:c.72279T>G (TTN)	ENSP00000483597.1:p.Ile24093Met
NM_001256850.1:c.72279T>G (TTN)	NP_001243779.1:p.Ile24093Met
NM_001267550.2:c.77202T>G (TTN) MANE Select	NP_001254479.2:p.Ile25734Met
NM_003319.4:c.50007T>G (TTN)	NP_003310.4:p.Ile16669Met
NM_133378.4:c.69498T>G (TTN)	NP_596869.4:p.Ile23166Met
NM_133432.3:c.50382T>G (TTN)	NP_597676.3:p.Ile16794Met
NM_133437.4:c.50583T>G (TTN)	NP_597681.4:p.Ile16861Met
NR_038271.1:n.447-2370A>C (TTN-AS1)
NR_038272.1:n.2044-13642A>C (TTN-AS1)
XM_011511729.1:c.76299T>G (TTN)	XP_011510031.1:p.Ile25433Met
XM_011511730.1:c.50193T>G (TTN)	XP_011510032.1:p.Ile16731Met
XM_011511731.1:c.50052T>G (TTN)	XP_011510033.1:p.Ile16684Met
XM_017004819.1:c.76095T>G (TTN)	XP_016860308.1:p.Ile25365Met
XM_017004820.1:c.71493T>G (TTN)	XP_016860309.1:p.Ile23831Met
XM_017004821.1:c.71490T>G (TTN)	XP_016860310.1:p.Ile23830Met
XM_017004822.1:c.68532T>G (TTN)	XP_016860311.1:p.Ile22844Met
XM_017004823.1:c.50148T>G (TTN)	XP_016860312.1:p.Ile16716Met
XM_024453094.1:c.71643T>G (TTN)	XP_024308862.1:p.Ile23881Met
XM_024453095.1:c.71640T>G (TTN)	XP_024308863.1:p.Ile23880Met
XM_024453096.1:c.71073T>G (TTN)	XP_024308864.1:p.Ile23691Met
XM_024453097.1:c.68415T>G (TTN)	XP_024308865.1:p.Ile22805Met
XM_024453098.1:c.68334T>G (TTN)	XP_024308866.1:p.Ile22778Met
XM_024453099.1:c.50097T>G (TTN)	XP_024308867.1:p.Ile16699Met
XM_024453100.1:c.39951T>G (TTN)	XP_024308868.1:p.Ile13317Met