Canonical Allele Identifier: CA349496693

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457793C>A (hg19) ; chr2:g.178593066C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593066C>A , CM000664.2:g.178593066C>A	GRCh38
NC_000002.11:g.179457793C>A , CM000664.1:g.179457793C>A	GRCh37
NC_000002.10:g.179166039C>A	NCBI36
NG_011618.3:g.242737G>T , LRG_391:g.242737G>T
NG_051363.1:g.75240C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51349G>T (TTN)	ENSP00000343764.6:p.Val17117Phe
ENST00000342175.11:c.32434G>T (TTN)	ENSP00000340554.6:p.Val10812Phe
ENST00000359218.10:c.32233G>T (TTN)	ENSP00000352154.5:p.Val10745Phe
ENST00000342175.10:c.32434G>T (TTN)	ENSP00000340554.6:p.Val10812Phe
ENST00000342992.10:c.51349G>T (TTN)	ENSP00000343764.6:p.Val17117Phe
ENST00000359218.9:c.32233G>T (TTN)	ENSP00000352154.5:p.Val10745Phe
ENST00000460472.6:c.31858G>T (TTN)	ENSP00000434586.1:p.Val10620Phe
ENST00000589042.5:c.59053G>T (TTN) MANE Select	ENSP00000467141.1:p.Val19685Phe
ENST00000591111.5:c.54130G>T (TTN)	ENSP00000465570.1:p.Val18044Phe
ENST00000615779.4:c.54130G>T (TTN)	ENSP00000483597.1:p.Val18044Phe
NM_001256850.1:c.54130G>T (TTN)	NP_001243779.1:p.Val18044Phe
NM_001267550.2:c.59053G>T (TTN) MANE Select	NP_001254479.2:p.Val19685Phe
NM_003319.4:c.31858G>T (TTN)	NP_003310.4:p.Val10620Phe
NM_133378.4:c.51349G>T (TTN)	NP_596869.4:p.Val17117Phe
NM_133432.3:c.32233G>T (TTN)	NP_597676.3:p.Val10745Phe
NM_133437.4:c.32434G>T (TTN)	NP_597681.4:p.Val10812Phe
NR_038271.1:n.597-4530C>A (TTN-AS1)
NR_038272.1:n.3364+1752C>A (TTN-AS1)
XM_011511729.1:c.58150G>T (TTN)	XP_011510031.1:p.Val19384Phe
XM_011511730.1:c.32044G>T (TTN)	XP_011510032.1:p.Val10682Phe
XM_011511731.1:c.31903G>T (TTN)	XP_011510033.1:p.Val10635Phe
XM_017004819.1:c.57946G>T (TTN)	XP_016860308.1:p.Val19316Phe
XM_017004820.1:c.53344G>T (TTN)	XP_016860309.1:p.Val17782Phe
XM_017004821.1:c.53341G>T (TTN)	XP_016860310.1:p.Val17781Phe
XM_017004822.1:c.50383G>T (TTN)	XP_016860311.1:p.Val16795Phe
XM_017004823.1:c.31999G>T (TTN)	XP_016860312.1:p.Val10667Phe
XM_024453094.1:c.53494G>T (TTN)	XP_024308862.1:p.Val17832Phe
XM_024453095.1:c.53491G>T (TTN)	XP_024308863.1:p.Val17831Phe
XM_024453096.1:c.52924G>T (TTN)	XP_024308864.1:p.Val17642Phe
XM_024453097.1:c.50266G>T (TTN)	XP_024308865.1:p.Val16756Phe
XM_024453098.1:c.50185G>T (TTN)	XP_024308866.1:p.Val16729Phe
XM_024453099.1:c.31948G>T (TTN)	XP_024308867.1:p.Val10650Phe
XM_024453100.1:c.21802G>T (TTN)	XP_024308868.1:p.Val7268Phe