Canonical Allele Identifier: CA349600884

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179432012C>G (hg19) ; chr2:g.178567285C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567285C>G , CM000664.2:g.178567285C>G	GRCh38
NC_000002.11:g.179432012C>G , CM000664.1:g.179432012C>G	GRCh37
NC_000002.10:g.179140258C>G	NCBI36
NG_011618.3:g.268518G>C , LRG_391:g.268518G>C
NG_051363.1:g.49459C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71143G>C (TTN)	ENSP00000343764.6:p.Val23715Leu
ENST00000342175.11:c.52228G>C (TTN)	ENSP00000340554.6:p.Val17410Leu
ENST00000359218.10:c.52027G>C (TTN)	ENSP00000352154.5:p.Val17343Leu
ENST00000342175.10:c.52228G>C (TTN)	ENSP00000340554.6:p.Val17410Leu
ENST00000342992.10:c.71143G>C (TTN)	ENSP00000343764.6:p.Val23715Leu
ENST00000359218.9:c.52027G>C (TTN)	ENSP00000352154.5:p.Val17343Leu
ENST00000460472.6:c.51652G>C (TTN)	ENSP00000434586.1:p.Val17218Leu
ENST00000589042.5:c.78847G>C (TTN) MANE Select	ENSP00000467141.1:p.Val26283Leu
ENST00000591111.5:c.73924G>C (TTN)	ENSP00000465570.1:p.Val24642Leu
ENST00000615779.4:c.73924G>C (TTN)	ENSP00000483597.1:p.Val24642Leu
NM_001256850.1:c.73924G>C (TTN)	NP_001243779.1:p.Val24642Leu
NM_001267550.2:c.78847G>C (TTN) MANE Select	NP_001254479.2:p.Val26283Leu
NM_003319.4:c.51652G>C (TTN)	NP_003310.4:p.Val17218Leu
NM_133378.4:c.71143G>C (TTN)	NP_596869.4:p.Val23715Leu
NM_133432.3:c.52027G>C (TTN)	NP_597676.3:p.Val17343Leu
NM_133437.4:c.52228G>C (TTN)	NP_597681.4:p.Val17410Leu
NR_038271.1:n.447-4015C>G (TTN-AS1)
NR_038272.1:n.2044-15287C>G (TTN-AS1)
XM_011511729.1:c.77944G>C (TTN)	XP_011510031.1:p.Val25982Leu
XM_011511730.1:c.51838G>C (TTN)	XP_011510032.1:p.Val17280Leu
XM_011511731.1:c.51697G>C (TTN)	XP_011510033.1:p.Val17233Leu
XM_017004819.1:c.77740G>C (TTN)	XP_016860308.1:p.Val25914Leu
XM_017004820.1:c.73138G>C (TTN)	XP_016860309.1:p.Val24380Leu
XM_017004821.1:c.73135G>C (TTN)	XP_016860310.1:p.Val24379Leu
XM_017004822.1:c.70177G>C (TTN)	XP_016860311.1:p.Val23393Leu
XM_017004823.1:c.51793G>C (TTN)	XP_016860312.1:p.Val17265Leu
XM_024453094.1:c.73288G>C (TTN)	XP_024308862.1:p.Val24430Leu
XM_024453095.1:c.73285G>C (TTN)	XP_024308863.1:p.Val24429Leu
XM_024453096.1:c.72718G>C (TTN)	XP_024308864.1:p.Val24240Leu
XM_024453097.1:c.70060G>C (TTN)	XP_024308865.1:p.Val23354Leu
XM_024453098.1:c.69979G>C (TTN)	XP_024308866.1:p.Val23327Leu
XM_024453099.1:c.51742G>C (TTN)	XP_024308867.1:p.Val17248Leu
XM_024453100.1:c.41596G>C (TTN)	XP_024308868.1:p.Val13866Leu