Canonical Allele Identifier: CA349436152

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179449420T>G (hg19) ; chr2:g.178584693T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178584693T>G , CM000664.2:g.178584693T>G	GRCh38
NC_000002.11:g.179449420T>G , CM000664.1:g.179449420T>G	GRCh37
NC_000002.10:g.179157666T>G	NCBI36
NG_011618.3:g.251110A>C , LRG_391:g.251110A>C
NG_051363.1:g.66867T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.57244A>C (TTN)	ENSP00000343764.6:p.Lys19082Gln
ENST00000342175.11:c.38329A>C (TTN)	ENSP00000340554.6:p.Lys12777Gln
ENST00000359218.10:c.38128A>C (TTN)	ENSP00000352154.5:p.Lys12710Gln
ENST00000342175.10:c.38329A>C (TTN)	ENSP00000340554.6:p.Lys12777Gln
ENST00000342992.10:c.57244A>C (TTN)	ENSP00000343764.6:p.Lys19082Gln
ENST00000359218.9:c.38128A>C (TTN)	ENSP00000352154.5:p.Lys12710Gln
ENST00000460472.6:c.37753A>C (TTN)	ENSP00000434586.1:p.Lys12585Gln
ENST00000589042.5:c.64948A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys21650Gln
ENST00000591111.5:c.60025A>C (TTN)	ENSP00000465570.1:p.Lys20009Gln
ENST00000615779.4:c.60025A>C (TTN)	ENSP00000483597.1:p.Lys20009Gln
NM_001256850.1:c.60025A>C (TTN)	NP_001243779.1:p.Lys20009Gln
NM_001267550.2:c.64948A>C (TTN) MANE Select	NP_001254479.2:p.Lys21650Gln
NM_003319.4:c.37753A>C (TTN)	NP_003310.4:p.Lys12585Gln
NM_133378.4:c.57244A>C (TTN)	NP_596869.4:p.Lys19082Gln
NM_133432.3:c.38128A>C (TTN)	NP_597676.3:p.Lys12710Gln
NM_133437.4:c.38329A>C (TTN)	NP_597681.4:p.Lys12777Gln
NR_038271.1:n.597-12903T>G (TTN-AS1)
NR_038272.1:n.2888T>G (TTN-AS1)
XM_011511729.1:c.64045A>C (TTN)	XP_011510031.1:p.Lys21349Gln
XM_011511730.1:c.37939A>C (TTN)	XP_011510032.1:p.Lys12647Gln
XM_011511731.1:c.37798A>C (TTN)	XP_011510033.1:p.Lys12600Gln
XM_017004819.1:c.63841A>C (TTN)	XP_016860308.1:p.Lys21281Gln
XM_017004820.1:c.59239A>C (TTN)	XP_016860309.1:p.Lys19747Gln
XM_017004821.1:c.59236A>C (TTN)	XP_016860310.1:p.Lys19746Gln
XM_017004822.1:c.56278A>C (TTN)	XP_016860311.1:p.Lys18760Gln
XM_017004823.1:c.37894A>C (TTN)	XP_016860312.1:p.Lys12632Gln
XM_024453094.1:c.59389A>C (TTN)	XP_024308862.1:p.Lys19797Gln
XM_024453095.1:c.59386A>C (TTN)	XP_024308863.1:p.Lys19796Gln
XM_024453096.1:c.58819A>C (TTN)	XP_024308864.1:p.Lys19607Gln
XM_024453097.1:c.56161A>C (TTN)	XP_024308865.1:p.Lys18721Gln
XM_024453098.1:c.56080A>C (TTN)	XP_024308866.1:p.Lys18694Gln
XM_024453099.1:c.37843A>C (TTN)	XP_024308867.1:p.Lys12615Gln
XM_024453100.1:c.27697A>C (TTN)	XP_024308868.1:p.Lys9233Gln