Canonical Allele Identifier: CA349423118

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179444033T>G (hg19) ; chr2:g.178579306T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178579306T>G , CM000664.2:g.178579306T>G	GRCh38
NC_000002.11:g.179444033T>G , CM000664.1:g.179444033T>G	GRCh37
NC_000002.10:g.179152279T>G	NCBI36
NG_011618.3:g.256497A>C , LRG_391:g.256497A>C
NG_051363.1:g.61480T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.60020A>C (TTN)	ENSP00000343764.6:p.Lys20007Thr
ENST00000342175.11:c.41105A>C (TTN)	ENSP00000340554.6:p.Lys13702Thr
ENST00000359218.10:c.40904A>C (TTN)	ENSP00000352154.5:p.Lys13635Thr
ENST00000342175.10:c.41105A>C (TTN)	ENSP00000340554.6:p.Lys13702Thr
ENST00000342992.10:c.60020A>C (TTN)	ENSP00000343764.6:p.Lys20007Thr
ENST00000359218.9:c.40904A>C (TTN)	ENSP00000352154.5:p.Lys13635Thr
ENST00000460472.6:c.40529A>C (TTN)	ENSP00000434586.1:p.Lys13510Thr
ENST00000589042.5:c.67724A>C (TTN) MANE Select	ENSP00000467141.1:p.Lys22575Thr
ENST00000591111.5:c.62801A>C (TTN)	ENSP00000465570.1:p.Lys20934Thr
ENST00000615779.4:c.62801A>C (TTN)	ENSP00000483597.1:p.Lys20934Thr
NM_001256850.1:c.62801A>C (TTN)	NP_001243779.1:p.Lys20934Thr
NM_001267550.2:c.67724A>C (TTN) MANE Select	NP_001254479.2:p.Lys22575Thr
NM_003319.4:c.40529A>C (TTN)	NP_003310.4:p.Lys13510Thr
NM_133378.4:c.60020A>C (TTN)	NP_596869.4:p.Lys20007Thr
NM_133432.3:c.40904A>C (TTN)	NP_597676.3:p.Lys13635Thr
NM_133437.4:c.41105A>C (TTN)	NP_597681.4:p.Lys13702Thr
NR_038271.1:n.596+7857T>G (TTN-AS1)
NR_038272.1:n.2044-3266T>G (TTN-AS1)
XM_011511729.1:c.66821A>C (TTN)	XP_011510031.1:p.Lys22274Thr
XM_011511730.1:c.40715A>C (TTN)	XP_011510032.1:p.Lys13572Thr
XM_011511731.1:c.40574A>C (TTN)	XP_011510033.1:p.Lys13525Thr
XM_017004819.1:c.66617A>C (TTN)	XP_016860308.1:p.Lys22206Thr
XM_017004820.1:c.62015A>C (TTN)	XP_016860309.1:p.Lys20672Thr
XM_017004821.1:c.62012A>C (TTN)	XP_016860310.1:p.Lys20671Thr
XM_017004822.1:c.59054A>C (TTN)	XP_016860311.1:p.Lys19685Thr
XM_017004823.1:c.40670A>C (TTN)	XP_016860312.1:p.Lys13557Thr
XM_024453094.1:c.62165A>C (TTN)	XP_024308862.1:p.Lys20722Thr
XM_024453095.1:c.62162A>C (TTN)	XP_024308863.1:p.Lys20721Thr
XM_024453096.1:c.61595A>C (TTN)	XP_024308864.1:p.Lys20532Thr
XM_024453097.1:c.58937A>C (TTN)	XP_024308865.1:p.Lys19646Thr
XM_024453098.1:c.58856A>C (TTN)	XP_024308866.1:p.Lys19619Thr
XM_024453099.1:c.40619A>C (TTN)	XP_024308867.1:p.Lys13540Thr
XM_024453100.1:c.30473A>C (TTN)	XP_024308868.1:p.Lys10158Thr