Canonical Allele Identifier: CA349618713

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179482930G>A (hg19) ; chr2:g.178618203G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178618203G>A , CM000664.2:g.178618203G>A	GRCh38
NC_000002.11:g.179482930G>A , CM000664.1:g.179482930G>A	GRCh37
NC_000002.10:g.179191175G>A	NCBI36
NG_011618.3:g.217600C>T , LRG_391:g.217600C>T
NG_051363.1:g.100377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.39551C>T (TTN)	ENSP00000343764.6:p.Ala13184Val
ENST00000342175.11:c.20636C>T (TTN)	ENSP00000340554.6:p.Ala6879Val
ENST00000359218.10:c.20435C>T (TTN)	ENSP00000352154.5:p.Ala6812Val
ENST00000342175.10:c.20636C>T (TTN)	ENSP00000340554.6:p.Ala6879Val
ENST00000342992.10:c.39551C>T (TTN)	ENSP00000343764.6:p.Ala13184Val
ENST00000359218.9:c.20435C>T (TTN)	ENSP00000352154.5:p.Ala6812Val
ENST00000460472.6:c.20060C>T (TTN)	ENSP00000434586.1:p.Ala6687Val
ENST00000589042.5:c.47255C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala15752Val
ENST00000591111.5:c.42332C>T (TTN)	ENSP00000465570.1:p.Ala14111Val
ENST00000615779.4:c.42332C>T (TTN)	ENSP00000483597.1:p.Ala14111Val
NM_001256850.1:c.42332C>T (TTN)	NP_001243779.1:p.Ala14111Val
NM_001267550.2:c.47255C>T (TTN) MANE Select	NP_001254479.2:p.Ala15752Val
NM_003319.4:c.20060C>T (TTN)	NP_003310.4:p.Ala6687Val
NM_133378.4:c.39551C>T (TTN)	NP_596869.4:p.Ala13184Val
NM_133432.3:c.20435C>T (TTN)	NP_597676.3:p.Ala6812Val
NM_133437.4:c.20636C>T (TTN)	NP_597681.4:p.Ala6879Val
NR_038271.1:n.1605-1550G>A (TTN-AS1)
XM_011511729.1:c.46352C>T (TTN)	XP_011510031.1:p.Ala15451Val
XM_011511730.1:c.20246C>T (TTN)	XP_011510032.1:p.Ala6749Val
XM_011511731.1:c.20105C>T (TTN)	XP_011510033.1:p.Ala6702Val
XM_017004819.1:c.46148C>T (TTN)	XP_016860308.1:p.Ala15383Val
XM_017004820.1:c.41546C>T (TTN)	XP_016860309.1:p.Ala13849Val
XM_017004821.1:c.41543C>T (TTN)	XP_016860310.1:p.Ala13848Val
XM_017004822.1:c.38585C>T (TTN)	XP_016860311.1:p.Ala12862Val
XM_017004823.1:c.20201C>T (TTN)	XP_016860312.1:p.Ala6734Val
XM_024453094.1:c.41696C>T (TTN)	XP_024308862.1:p.Ala13899Val
XM_024453095.1:c.41693C>T (TTN)	XP_024308863.1:p.Ala13898Val
XM_024453096.1:c.41126C>T (TTN)	XP_024308864.1:p.Ala13709Val
XM_024453097.1:c.38468C>T (TTN)	XP_024308865.1:p.Ala12823Val
XM_024453098.1:c.38387C>T (TTN)	XP_024308866.1:p.Ala12796Val
XM_024453099.1:c.20150C>T (TTN)	XP_024308867.1:p.Ala6717Val
XM_024453100.1:c.10004C>T (TTN)	XP_024308868.1:p.Ala3335Val