Canonical Allele Identifier: CA349496680

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179457792A>G (hg19) ; chr2:g.178593065A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178593065A>G , CM000664.2:g.178593065A>G	GRCh38
NC_000002.11:g.179457792A>G , CM000664.1:g.179457792A>G	GRCh37
NC_000002.10:g.179166038A>G	NCBI36
NG_011618.3:g.242738T>C , LRG_391:g.242738T>C
NG_051363.1:g.75239A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.51350T>C (TTN)	ENSP00000343764.6:p.Val17117Ala
ENST00000342175.11:c.32435T>C (TTN)	ENSP00000340554.6:p.Val10812Ala
ENST00000359218.10:c.32234T>C (TTN)	ENSP00000352154.5:p.Val10745Ala
ENST00000342175.10:c.32435T>C (TTN)	ENSP00000340554.6:p.Val10812Ala
ENST00000342992.10:c.51350T>C (TTN)	ENSP00000343764.6:p.Val17117Ala
ENST00000359218.9:c.32234T>C (TTN)	ENSP00000352154.5:p.Val10745Ala
ENST00000460472.6:c.31859T>C (TTN)	ENSP00000434586.1:p.Val10620Ala
ENST00000589042.5:c.59054T>C (TTN) MANE Select	ENSP00000467141.1:p.Val19685Ala
ENST00000591111.5:c.54131T>C (TTN)	ENSP00000465570.1:p.Val18044Ala
ENST00000615779.4:c.54131T>C (TTN)	ENSP00000483597.1:p.Val18044Ala
NM_001256850.1:c.54131T>C (TTN)	NP_001243779.1:p.Val18044Ala
NM_001267550.2:c.59054T>C (TTN) MANE Select	NP_001254479.2:p.Val19685Ala
NM_003319.4:c.31859T>C (TTN)	NP_003310.4:p.Val10620Ala
NM_133378.4:c.51350T>C (TTN)	NP_596869.4:p.Val17117Ala
NM_133432.3:c.32234T>C (TTN)	NP_597676.3:p.Val10745Ala
NM_133437.4:c.32435T>C (TTN)	NP_597681.4:p.Val10812Ala
NR_038271.1:n.597-4531A>G (TTN-AS1)
NR_038272.1:n.3364+1751A>G (TTN-AS1)
XM_011511729.1:c.58151T>C (TTN)	XP_011510031.1:p.Val19384Ala
XM_011511730.1:c.32045T>C (TTN)	XP_011510032.1:p.Val10682Ala
XM_011511731.1:c.31904T>C (TTN)	XP_011510033.1:p.Val10635Ala
XM_017004819.1:c.57947T>C (TTN)	XP_016860308.1:p.Val19316Ala
XM_017004820.1:c.53345T>C (TTN)	XP_016860309.1:p.Val17782Ala
XM_017004821.1:c.53342T>C (TTN)	XP_016860310.1:p.Val17781Ala
XM_017004822.1:c.50384T>C (TTN)	XP_016860311.1:p.Val16795Ala
XM_017004823.1:c.32000T>C (TTN)	XP_016860312.1:p.Val10667Ala
XM_024453094.1:c.53495T>C (TTN)	XP_024308862.1:p.Val17832Ala
XM_024453095.1:c.53492T>C (TTN)	XP_024308863.1:p.Val17831Ala
XM_024453096.1:c.52925T>C (TTN)	XP_024308864.1:p.Val17642Ala
XM_024453097.1:c.50267T>C (TTN)	XP_024308865.1:p.Val16756Ala
XM_024453098.1:c.50186T>C (TTN)	XP_024308866.1:p.Val16729Ala
XM_024453099.1:c.31949T>C (TTN)	XP_024308867.1:p.Val10650Ala
XM_024453100.1:c.21803T>C (TTN)	XP_024308868.1:p.Val7268Ala