Canonical Allele Identifier: CA349465212

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179454141G>T (hg19) ; chr2:g.178589414G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178589414G>T , CM000664.2:g.178589414G>T	GRCh38
NC_000002.11:g.179454141G>T , CM000664.1:g.179454141G>T	GRCh37
NC_000002.10:g.179162387G>T	NCBI36
NG_011618.3:g.246389C>A , LRG_391:g.246389C>A
NG_051363.1:g.71588G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.54607C>A (TTN)	ENSP00000343764.6:p.Leu18203Ile
ENST00000342175.11:c.35692C>A (TTN)	ENSP00000340554.6:p.Leu11898Ile
ENST00000359218.10:c.35491C>A (TTN)	ENSP00000352154.5:p.Leu11831Ile
ENST00000342175.10:c.35692C>A (TTN)	ENSP00000340554.6:p.Leu11898Ile
ENST00000342992.10:c.54607C>A (TTN)	ENSP00000343764.6:p.Leu18203Ile
ENST00000359218.9:c.35491C>A (TTN)	ENSP00000352154.5:p.Leu11831Ile
ENST00000460472.6:c.35116C>A (TTN)	ENSP00000434586.1:p.Leu11706Ile
ENST00000589042.5:c.62311C>A (TTN) MANE Select	ENSP00000467141.1:p.Leu20771Ile
ENST00000591111.5:c.57388C>A (TTN)	ENSP00000465570.1:p.Leu19130Ile
ENST00000615779.4:c.57388C>A (TTN)	ENSP00000483597.1:p.Leu19130Ile
NM_001256850.1:c.57388C>A (TTN)	NP_001243779.1:p.Leu19130Ile
NM_001267550.2:c.62311C>A (TTN) MANE Select	NP_001254479.2:p.Leu20771Ile
NM_003319.4:c.35116C>A (TTN)	NP_003310.4:p.Leu11706Ile
NM_133378.4:c.54607C>A (TTN)	NP_596869.4:p.Leu18203Ile
NM_133432.3:c.35491C>A (TTN)	NP_597676.3:p.Leu11831Ile
NM_133437.4:c.35692C>A (TTN)	NP_597681.4:p.Leu11898Ile
NR_038271.1:n.597-8182G>T (TTN-AS1)
NR_038272.1:n.3189-1725G>T (TTN-AS1)
XM_011511729.1:c.61408C>A (TTN)	XP_011510031.1:p.Leu20470Ile
XM_011511730.1:c.35302C>A (TTN)	XP_011510032.1:p.Leu11768Ile
XM_011511731.1:c.35161C>A (TTN)	XP_011510033.1:p.Leu11721Ile
XM_017004819.1:c.61204C>A (TTN)	XP_016860308.1:p.Leu20402Ile
XM_017004820.1:c.56602C>A (TTN)	XP_016860309.1:p.Leu18868Ile
XM_017004821.1:c.56599C>A (TTN)	XP_016860310.1:p.Leu18867Ile
XM_017004822.1:c.53641C>A (TTN)	XP_016860311.1:p.Leu17881Ile
XM_017004823.1:c.35257C>A (TTN)	XP_016860312.1:p.Leu11753Ile
XM_024453094.1:c.56752C>A (TTN)	XP_024308862.1:p.Leu18918Ile
XM_024453095.1:c.56749C>A (TTN)	XP_024308863.1:p.Leu18917Ile
XM_024453096.1:c.56182C>A (TTN)	XP_024308864.1:p.Leu18728Ile
XM_024453097.1:c.53524C>A (TTN)	XP_024308865.1:p.Leu17842Ile
XM_024453098.1:c.53443C>A (TTN)	XP_024308866.1:p.Leu17815Ile
XM_024453099.1:c.35206C>A (TTN)	XP_024308867.1:p.Leu11736Ile
XM_024453100.1:c.25060C>A (TTN)	XP_024308868.1:p.Leu8354Ile