Canonical Allele Identifier: CA349479485

Gene: TTN TTN-AS1

Linked Data

• gnomAD v4: 2-178590935-C-G
• MyVariant Identifiers: chr2:g.179455662C>G (hg19) ; chr2:g.178590935C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178590935C>G , CM000664.2:g.178590935C>G	GRCh38
NC_000002.11:g.179455662C>G , CM000664.1:g.179455662C>G	GRCh37
NC_000002.10:g.179163908C>G	NCBI36
NG_011618.3:g.244868G>C , LRG_391:g.244868G>C
NG_051363.1:g.73109C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.53086G>C (TTN)	ENSP00000343764.6:p.Val17696Leu
ENST00000342175.11:c.34171G>C (TTN)	ENSP00000340554.6:p.Val11391Leu
ENST00000359218.10:c.33970G>C (TTN)	ENSP00000352154.5:p.Val11324Leu
ENST00000342175.10:c.34171G>C (TTN)	ENSP00000340554.6:p.Val11391Leu
ENST00000342992.10:c.53086G>C (TTN)	ENSP00000343764.6:p.Val17696Leu
ENST00000359218.9:c.33970G>C (TTN)	ENSP00000352154.5:p.Val11324Leu
ENST00000460472.6:c.33595G>C (TTN)	ENSP00000434586.1:p.Val11199Leu
ENST00000589042.5:c.60790G>C (TTN) MANE Select	ENSP00000467141.1:p.Val20264Leu
ENST00000591111.5:c.55867G>C (TTN)	ENSP00000465570.1:p.Val18623Leu
ENST00000615779.4:c.55867G>C (TTN)	ENSP00000483597.1:p.Val18623Leu
NM_001256850.1:c.55867G>C (TTN)	NP_001243779.1:p.Val18623Leu
NM_001267550.2:c.60790G>C (TTN) MANE Select	NP_001254479.2:p.Val20264Leu
NM_003319.4:c.33595G>C (TTN)	NP_003310.4:p.Val11199Leu
NM_133378.4:c.53086G>C (TTN)	NP_596869.4:p.Val17696Leu
NM_133432.3:c.33970G>C (TTN)	NP_597676.3:p.Val11324Leu
NM_133437.4:c.34171G>C (TTN)	NP_597681.4:p.Val11391Leu
NR_038271.1:n.597-6661C>G (TTN-AS1)
NR_038272.1:n.3189-204C>G (TTN-AS1)
XM_011511729.1:c.59887G>C (TTN)	XP_011510031.1:p.Val19963Leu
XM_011511730.1:c.33781G>C (TTN)	XP_011510032.1:p.Val11261Leu
XM_011511731.1:c.33640G>C (TTN)	XP_011510033.1:p.Val11214Leu
XM_017004819.1:c.59683G>C (TTN)	XP_016860308.1:p.Val19895Leu
XM_017004820.1:c.55081G>C (TTN)	XP_016860309.1:p.Val18361Leu
XM_017004821.1:c.55078G>C (TTN)	XP_016860310.1:p.Val18360Leu
XM_017004822.1:c.52120G>C (TTN)	XP_016860311.1:p.Val17374Leu
XM_017004823.1:c.33736G>C (TTN)	XP_016860312.1:p.Val11246Leu
XM_024453094.1:c.55231G>C (TTN)	XP_024308862.1:p.Val18411Leu
XM_024453095.1:c.55228G>C (TTN)	XP_024308863.1:p.Val18410Leu
XM_024453096.1:c.54661G>C (TTN)	XP_024308864.1:p.Val18221Leu
XM_024453097.1:c.52003G>C (TTN)	XP_024308865.1:p.Val17335Leu
XM_024453098.1:c.51922G>C (TTN)	XP_024308866.1:p.Val17308Leu
XM_024453099.1:c.33685G>C (TTN)	XP_024308867.1:p.Val11229Leu
XM_024453100.1:c.23539G>C (TTN)	XP_024308868.1:p.Val7847Leu