Canonical Allele Identifier: CA349589807

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179430594G>T (hg19) ; chr2:g.178565867G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178565867G>T , CM000664.2:g.178565867G>T	GRCh38
NC_000002.11:g.179430594G>T , CM000664.1:g.179430594G>T	GRCh37
NC_000002.10:g.179138840G>T	NCBI36
NG_011618.3:g.269936C>A , LRG_391:g.269936C>A
NG_051363.1:g.48041G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.72561C>A (TTN)	ENSP00000343764.6:p.Phe24187Leu
ENST00000342175.11:c.53646C>A (TTN)	ENSP00000340554.6:p.Phe17882Leu
ENST00000359218.10:c.53445C>A (TTN)	ENSP00000352154.5:p.Phe17815Leu
ENST00000342175.10:c.53646C>A (TTN)	ENSP00000340554.6:p.Phe17882Leu
ENST00000342992.10:c.72561C>A (TTN)	ENSP00000343764.6:p.Phe24187Leu
ENST00000359218.9:c.53445C>A (TTN)	ENSP00000352154.5:p.Phe17815Leu
ENST00000460472.6:c.53070C>A (TTN)	ENSP00000434586.1:p.Phe17690Leu
ENST00000589042.5:c.80265C>A (TTN) MANE Select	ENSP00000467141.1:p.Phe26755Leu
ENST00000591111.5:c.75342C>A (TTN)	ENSP00000465570.1:p.Phe25114Leu
ENST00000615779.4:c.75342C>A (TTN)	ENSP00000483597.1:p.Phe25114Leu
NM_001256850.1:c.75342C>A (TTN)	NP_001243779.1:p.Phe25114Leu
NM_001267550.2:c.80265C>A (TTN) MANE Select	NP_001254479.2:p.Phe26755Leu
NM_003319.4:c.53070C>A (TTN)	NP_003310.4:p.Phe17690Leu
NM_133378.4:c.72561C>A (TTN)	NP_596869.4:p.Phe24187Leu
NM_133432.3:c.53445C>A (TTN)	NP_597676.3:p.Phe17815Leu
NM_133437.4:c.53646C>A (TTN)	NP_597681.4:p.Phe17882Leu
NR_038271.1:n.447-5433G>T (TTN-AS1)
NR_038272.1:n.2044-16705G>T (TTN-AS1)
XM_011511729.1:c.79362C>A (TTN)	XP_011510031.1:p.Phe26454Leu
XM_011511730.1:c.53256C>A (TTN)	XP_011510032.1:p.Phe17752Leu
XM_011511731.1:c.53115C>A (TTN)	XP_011510033.1:p.Phe17705Leu
XM_017004819.1:c.79158C>A (TTN)	XP_016860308.1:p.Phe26386Leu
XM_017004820.1:c.74556C>A (TTN)	XP_016860309.1:p.Phe24852Leu
XM_017004821.1:c.74553C>A (TTN)	XP_016860310.1:p.Phe24851Leu
XM_017004822.1:c.71595C>A (TTN)	XP_016860311.1:p.Phe23865Leu
XM_017004823.1:c.53211C>A (TTN)	XP_016860312.1:p.Phe17737Leu
XM_024453094.1:c.74706C>A (TTN)	XP_024308862.1:p.Phe24902Leu
XM_024453095.1:c.74703C>A (TTN)	XP_024308863.1:p.Phe24901Leu
XM_024453096.1:c.74136C>A (TTN)	XP_024308864.1:p.Phe24712Leu
XM_024453097.1:c.71478C>A (TTN)	XP_024308865.1:p.Phe23826Leu
XM_024453098.1:c.71397C>A (TTN)	XP_024308866.1:p.Phe23799Leu
XM_024453099.1:c.53160C>A (TTN)	XP_024308867.1:p.Phe17720Leu
XM_024453100.1:c.43014C>A (TTN)	XP_024308868.1:p.Phe14338Leu