Canonical Allele Identifier: CA349494271

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457522A>G (hg19) ; chr2:g.178592795A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178592795A>G , CM000664.2:g.178592795A>G	GRCh38
NC_000002.11:g.179457522A>G , CM000664.1:g.179457522A>G	GRCh37
NC_000002.10:g.179165768A>G	NCBI36
NG_011618.3:g.243008T>C , LRG_391:g.243008T>C
NG_051363.1:g.74969A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51620T>C (TTN)	ENSP00000343764.6:p.Val17207Ala
ENST00000342175.11:c.32705T>C (TTN)	ENSP00000340554.6:p.Val10902Ala
ENST00000359218.10:c.32504T>C (TTN)	ENSP00000352154.5:p.Val10835Ala
ENST00000342175.10:c.32705T>C (TTN)	ENSP00000340554.6:p.Val10902Ala
ENST00000342992.10:c.51620T>C (TTN)	ENSP00000343764.6:p.Val17207Ala
ENST00000359218.9:c.32504T>C (TTN)	ENSP00000352154.5:p.Val10835Ala
ENST00000460472.6:c.32129T>C (TTN)	ENSP00000434586.1:p.Val10710Ala
ENST00000589042.5:c.59324T>C (TTN) MANE Select	ENSP00000467141.1:p.Val19775Ala
ENST00000591111.5:c.54401T>C (TTN)	ENSP00000465570.1:p.Val18134Ala
ENST00000615779.4:c.54401T>C (TTN)	ENSP00000483597.1:p.Val18134Ala
NM_001256850.1:c.54401T>C (TTN)	NP_001243779.1:p.Val18134Ala
NM_001267550.2:c.59324T>C (TTN) MANE Select	NP_001254479.2:p.Val19775Ala
NM_003319.4:c.32129T>C (TTN)	NP_003310.4:p.Val10710Ala
NM_133378.4:c.51620T>C (TTN)	NP_596869.4:p.Val17207Ala
NM_133432.3:c.32504T>C (TTN)	NP_597676.3:p.Val10835Ala
NM_133437.4:c.32705T>C (TTN)	NP_597681.4:p.Val10902Ala
NR_038271.1:n.597-4801A>G (TTN-AS1)
NR_038272.1:n.3364+1481A>G (TTN-AS1)
XM_011511729.1:c.58421T>C (TTN)	XP_011510031.1:p.Val19474Ala
XM_011511730.1:c.32315T>C (TTN)	XP_011510032.1:p.Val10772Ala
XM_011511731.1:c.32174T>C (TTN)	XP_011510033.1:p.Val10725Ala
XM_017004819.1:c.58217T>C (TTN)	XP_016860308.1:p.Val19406Ala
XM_017004820.1:c.53615T>C (TTN)	XP_016860309.1:p.Val17872Ala
XM_017004821.1:c.53612T>C (TTN)	XP_016860310.1:p.Val17871Ala
XM_017004822.1:c.50654T>C (TTN)	XP_016860311.1:p.Val16885Ala
XM_017004823.1:c.32270T>C (TTN)	XP_016860312.1:p.Val10757Ala
XM_024453094.1:c.53765T>C (TTN)	XP_024308862.1:p.Val17922Ala
XM_024453095.1:c.53762T>C (TTN)	XP_024308863.1:p.Val17921Ala
XM_024453096.1:c.53195T>C (TTN)	XP_024308864.1:p.Val17732Ala
XM_024453097.1:c.50537T>C (TTN)	XP_024308865.1:p.Val16846Ala
XM_024453098.1:c.50456T>C (TTN)	XP_024308866.1:p.Val16819Ala
XM_024453099.1:c.32219T>C (TTN)	XP_024308867.1:p.Val10740Ala
XM_024453100.1:c.22073T>C (TTN)	XP_024308868.1:p.Val7358Ala