Canonical Allele Identifier: CA349454773

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM3570709 ; COSM3570710 ; COSM3570711 ; COSM3570712
• MyVariant Identifiers: chr2:g.179408933C>T (hg19) ; chr2:g.178544206C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178544206C>T , CM000664.2:g.178544206C>T	GRCh38
NC_000002.11:g.179408933C>T , CM000664.1:g.179408933C>T	GRCh37
NC_000002.10:g.179117179C>T	NCBI36
NG_011618.3:g.291597G>A , LRG_391:g.291597G>A
NG_051363.1:g.26380C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.88319G>A (TTN)	ENSP00000343764.6:p.Arg29440Lys
ENST00000342175.11:c.69404G>A (TTN)	ENSP00000340554.6:p.Arg23135Lys
ENST00000359218.10:c.69203G>A (TTN)	ENSP00000352154.5:p.Arg23068Lys
ENST00000342175.10:c.69404G>A (TTN)	ENSP00000340554.6:p.Arg23135Lys
ENST00000342992.10:c.88319G>A (TTN)	ENSP00000343764.6:p.Arg29440Lys
ENST00000359218.9:c.69203G>A (TTN)	ENSP00000352154.5:p.Arg23068Lys
ENST00000460472.6:c.68828G>A (TTN)	ENSP00000434586.1:p.Arg22943Lys
ENST00000589042.5:c.96023G>A (TTN) MANE Select	ENSP00000467141.1:p.Arg32008Lys
ENST00000591111.5:c.91100G>A (TTN)	ENSP00000465570.1:p.Arg30367Lys
ENST00000615779.4:c.91100G>A (TTN)	ENSP00000483597.1:p.Arg30367Lys
NM_001256850.1:c.91100G>A (TTN)	NP_001243779.1:p.Arg30367Lys
NM_001267550.2:c.96023G>A (TTN) MANE Select	NP_001254479.2:p.Arg32008Lys
NM_003319.4:c.68828G>A (TTN)	NP_003310.4:p.Arg22943Lys
NM_133378.4:c.88319G>A (TTN)	NP_596869.4:p.Arg29440Lys
NM_133432.3:c.69203G>A (TTN)	NP_597676.3:p.Arg23068Lys
NM_133437.4:c.69404G>A (TTN)	NP_597681.4:p.Arg23135Lys
NR_038271.1:n.446+20570C>T (TTN-AS1)
NR_038272.1:n.2043+1845C>T (TTN-AS1)
XM_011511729.1:c.95120G>A (TTN)	XP_011510031.1:p.Arg31707Lys
XM_011511730.1:c.69014G>A (TTN)	XP_011510032.1:p.Arg23005Lys
XM_011511731.1:c.68873G>A (TTN)	XP_011510033.1:p.Arg22958Lys
XM_017004819.1:c.94916G>A (TTN)	XP_016860308.1:p.Arg31639Lys
XM_017004820.1:c.90314G>A (TTN)	XP_016860309.1:p.Arg30105Lys
XM_017004821.1:c.90311G>A (TTN)	XP_016860310.1:p.Arg30104Lys
XM_017004822.1:c.87353G>A (TTN)	XP_016860311.1:p.Arg29118Lys
XM_017004823.1:c.68969G>A (TTN)	XP_016860312.1:p.Arg22990Lys
XM_024453094.1:c.90464G>A (TTN)	XP_024308862.1:p.Arg30155Lys
XM_024453095.1:c.90461G>A (TTN)	XP_024308863.1:p.Arg30154Lys
XM_024453096.1:c.89894G>A (TTN)	XP_024308864.1:p.Arg29965Lys
XM_024453097.1:c.87236G>A (TTN)	XP_024308865.1:p.Arg29079Lys
XM_024453098.1:c.87155G>A (TTN)	XP_024308866.1:p.Arg29052Lys
XM_024453099.1:c.68918G>A (TTN)	XP_024308867.1:p.Arg22973Lys
XM_024453100.1:c.58772G>A (TTN)	XP_024308868.1:p.Arg19591Lys