Canonical Allele Identifier: CA349494248

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457517C>G (hg19) ; chr2:g.178592790C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592790C>G , CM000664.2:g.178592790C>G	GRCh38
NC_000002.11:g.179457517C>G , CM000664.1:g.179457517C>G	GRCh37
NC_000002.10:g.179165763C>G	NCBI36
NG_011618.3:g.243013G>C , LRG_391:g.243013G>C
NG_051363.1:g.74964C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51625G>C (TTN)	ENSP00000343764.6:p.Val17209Leu
ENST00000342175.11:c.32710G>C (TTN)	ENSP00000340554.6:p.Val10904Leu
ENST00000359218.10:c.32509G>C (TTN)	ENSP00000352154.5:p.Val10837Leu
ENST00000342175.10:c.32710G>C (TTN)	ENSP00000340554.6:p.Val10904Leu
ENST00000342992.10:c.51625G>C (TTN)	ENSP00000343764.6:p.Val17209Leu
ENST00000359218.9:c.32509G>C (TTN)	ENSP00000352154.5:p.Val10837Leu
ENST00000460472.6:c.32134G>C (TTN)	ENSP00000434586.1:p.Val10712Leu
ENST00000589042.5:c.59329G>C (TTN) MANE Select	ENSP00000467141.1:p.Val19777Leu
ENST00000591111.5:c.54406G>C (TTN)	ENSP00000465570.1:p.Val18136Leu
ENST00000615779.4:c.54406G>C (TTN)	ENSP00000483597.1:p.Val18136Leu
NM_001256850.1:c.54406G>C (TTN)	NP_001243779.1:p.Val18136Leu
NM_001267550.2:c.59329G>C (TTN) MANE Select	NP_001254479.2:p.Val19777Leu
NM_003319.4:c.32134G>C (TTN)	NP_003310.4:p.Val10712Leu
NM_133378.4:c.51625G>C (TTN)	NP_596869.4:p.Val17209Leu
NM_133432.3:c.32509G>C (TTN)	NP_597676.3:p.Val10837Leu
NM_133437.4:c.32710G>C (TTN)	NP_597681.4:p.Val10904Leu
NR_038271.1:n.597-4806C>G (TTN-AS1)
NR_038272.1:n.3364+1476C>G (TTN-AS1)
XM_011511729.1:c.58426G>C (TTN)	XP_011510031.1:p.Val19476Leu
XM_011511730.1:c.32320G>C (TTN)	XP_011510032.1:p.Val10774Leu
XM_011511731.1:c.32179G>C (TTN)	XP_011510033.1:p.Val10727Leu
XM_017004819.1:c.58222G>C (TTN)	XP_016860308.1:p.Val19408Leu
XM_017004820.1:c.53620G>C (TTN)	XP_016860309.1:p.Val17874Leu
XM_017004821.1:c.53617G>C (TTN)	XP_016860310.1:p.Val17873Leu
XM_017004822.1:c.50659G>C (TTN)	XP_016860311.1:p.Val16887Leu
XM_017004823.1:c.32275G>C (TTN)	XP_016860312.1:p.Val10759Leu
XM_024453094.1:c.53770G>C (TTN)	XP_024308862.1:p.Val17924Leu
XM_024453095.1:c.53767G>C (TTN)	XP_024308863.1:p.Val17923Leu
XM_024453096.1:c.53200G>C (TTN)	XP_024308864.1:p.Val17734Leu
XM_024453097.1:c.50542G>C (TTN)	XP_024308865.1:p.Val16848Leu
XM_024453098.1:c.50461G>C (TTN)	XP_024308866.1:p.Val16821Leu
XM_024453099.1:c.32224G>C (TTN)	XP_024308867.1:p.Val10742Leu
XM_024453100.1:c.22078G>C (TTN)	XP_024308868.1:p.Val7360Leu