Canonical Allele Identifier: CA349564279

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179427046G>A (hg19) ; chr2:g.178562319G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178562319G>A , CM000664.2:g.178562319G>A	GRCh38
NC_000002.11:g.179427046G>A , CM000664.1:g.179427046G>A	GRCh37
NC_000002.10:g.179135292G>A	NCBI36
NG_011618.3:g.273484C>T , LRG_391:g.273484C>T
NG_051363.1:g.44493G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.76109C>T (TTN)	ENSP00000343764.6:p.Ala25370Val
ENST00000342175.11:c.57194C>T (TTN)	ENSP00000340554.6:p.Ala19065Val
ENST00000359218.10:c.56993C>T (TTN)	ENSP00000352154.5:p.Ala18998Val
ENST00000342175.10:c.57194C>T (TTN)	ENSP00000340554.6:p.Ala19065Val
ENST00000342992.10:c.76109C>T (TTN)	ENSP00000343764.6:p.Ala25370Val
ENST00000359218.9:c.56993C>T (TTN)	ENSP00000352154.5:p.Ala18998Val
ENST00000460472.6:c.56618C>T (TTN)	ENSP00000434586.1:p.Ala18873Val
ENST00000589042.5:c.83813C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala27938Val
ENST00000591111.5:c.78890C>T (TTN)	ENSP00000465570.1:p.Ala26297Val
ENST00000615779.4:c.78890C>T (TTN)	ENSP00000483597.1:p.Ala26297Val
NM_001256850.1:c.78890C>T (TTN)	NP_001243779.1:p.Ala26297Val
NM_001267550.2:c.83813C>T (TTN) MANE Select	NP_001254479.2:p.Ala27938Val
NM_003319.4:c.56618C>T (TTN)	NP_003310.4:p.Ala18873Val
NM_133378.4:c.76109C>T (TTN)	NP_596869.4:p.Ala25370Val
NM_133432.3:c.56993C>T (TTN)	NP_597676.3:p.Ala18998Val
NM_133437.4:c.57194C>T (TTN)	NP_597681.4:p.Ala19065Val
NR_038271.1:n.447-8981G>A (TTN-AS1)
NR_038272.1:n.2043+19958G>A (TTN-AS1)
XM_011511729.1:c.82910C>T (TTN)	XP_011510031.1:p.Ala27637Val
XM_011511730.1:c.56804C>T (TTN)	XP_011510032.1:p.Ala18935Val
XM_011511731.1:c.56663C>T (TTN)	XP_011510033.1:p.Ala18888Val
XM_017004819.1:c.82706C>T (TTN)	XP_016860308.1:p.Ala27569Val
XM_017004820.1:c.78104C>T (TTN)	XP_016860309.1:p.Ala26035Val
XM_017004821.1:c.78101C>T (TTN)	XP_016860310.1:p.Ala26034Val
XM_017004822.1:c.75143C>T (TTN)	XP_016860311.1:p.Ala25048Val
XM_017004823.1:c.56759C>T (TTN)	XP_016860312.1:p.Ala18920Val
XM_024453094.1:c.78254C>T (TTN)	XP_024308862.1:p.Ala26085Val
XM_024453095.1:c.78251C>T (TTN)	XP_024308863.1:p.Ala26084Val
XM_024453096.1:c.77684C>T (TTN)	XP_024308864.1:p.Ala25895Val
XM_024453097.1:c.75026C>T (TTN)	XP_024308865.1:p.Ala25009Val
XM_024453098.1:c.74945C>T (TTN)	XP_024308866.1:p.Ala24982Val
XM_024453099.1:c.56708C>T (TTN)	XP_024308867.1:p.Ala18903Val
XM_024453100.1:c.46562C>T (TTN)	XP_024308868.1:p.Ala15521Val