Canonical Allele Identifier: CA349496701

Gene: TTN TTN-AS1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51349G>C (TTN)	ENSP00000343764.6:p.Val17117Leu
ENST00000342175.11:c.32434G>C (TTN)	ENSP00000340554.6:p.Val10812Leu
ENST00000359218.10:c.32233G>C (TTN)	ENSP00000352154.5:p.Val10745Leu
ENST00000342175.10:c.32434G>C (TTN)	ENSP00000340554.6:p.Val10812Leu
ENST00000342992.10:c.51349G>C (TTN)	ENSP00000343764.6:p.Val17117Leu
ENST00000359218.9:c.32233G>C (TTN)	ENSP00000352154.5:p.Val10745Leu
ENST00000460472.6:c.31858G>C (TTN)	ENSP00000434586.1:p.Val10620Leu
ENST00000589042.5:c.59053G>C (TTN) MANE Select	ENSP00000467141.1:p.Val19685Leu
ENST00000591111.5:c.54130G>C (TTN)	ENSP00000465570.1:p.Val18044Leu
ENST00000615779.4:c.54130G>C (TTN)	ENSP00000483597.1:p.Val18044Leu
NM_001256850.1:c.54130G>C (TTN)	NP_001243779.1:p.Val18044Leu
NM_001267550.2:c.59053G>C (TTN) MANE Select	NP_001254479.2:p.Val19685Leu
NM_003319.4:c.31858G>C (TTN)	NP_003310.4:p.Val10620Leu
NM_133378.4:c.51349G>C (TTN)	NP_596869.4:p.Val17117Leu
NM_133432.3:c.32233G>C (TTN)	NP_597676.3:p.Val10745Leu
NM_133437.4:c.32434G>C (TTN)	NP_597681.4:p.Val10812Leu
NR_038271.1:n.597-4530C>G (TTN-AS1)
NR_038272.1:n.3364+1752C>G (TTN-AS1)
XM_011511729.1:c.58150G>C (TTN)	XP_011510031.1:p.Val19384Leu
XM_011511730.1:c.32044G>C (TTN)	XP_011510032.1:p.Val10682Leu
XM_011511731.1:c.31903G>C (TTN)	XP_011510033.1:p.Val10635Leu
XM_017004819.1:c.57946G>C (TTN)	XP_016860308.1:p.Val19316Leu
XM_017004820.1:c.53344G>C (TTN)	XP_016860309.1:p.Val17782Leu
XM_017004821.1:c.53341G>C (TTN)	XP_016860310.1:p.Val17781Leu
XM_017004822.1:c.50383G>C (TTN)	XP_016860311.1:p.Val16795Leu
XM_017004823.1:c.31999G>C (TTN)	XP_016860312.1:p.Val10667Leu
XM_024453094.1:c.53494G>C (TTN)	XP_024308862.1:p.Val17832Leu
XM_024453095.1:c.53491G>C (TTN)	XP_024308863.1:p.Val17831Leu
XM_024453096.1:c.52924G>C (TTN)	XP_024308864.1:p.Val17642Leu
XM_024453097.1:c.50266G>C (TTN)	XP_024308865.1:p.Val16756Leu
XM_024453098.1:c.50185G>C (TTN)	XP_024308866.1:p.Val16729Leu
XM_024453099.1:c.31948G>C (TTN)	XP_024308867.1:p.Val10650Leu
XM_024453100.1:c.21802G>C (TTN)	XP_024308868.1:p.Val7268Leu