Canonical Allele Identifier: CA349471486

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179411487C>A (hg19) ; chr2:g.178546760C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178546760C>A , CM000664.2:g.178546760C>A	GRCh38
NC_000002.11:g.179411487C>A , CM000664.1:g.179411487C>A	GRCh37
NC_000002.10:g.179119733C>A	NCBI36
NG_011618.3:g.289043G>T , LRG_391:g.289043G>T
NG_051363.1:g.28934C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.86964G>T (TTN)	ENSP00000343764.6:p.Trp28988Cys
ENST00000342175.11:c.68049G>T (TTN)	ENSP00000340554.6:p.Trp22683Cys
ENST00000359218.10:c.67848G>T (TTN)	ENSP00000352154.5:p.Trp22616Cys
ENST00000342175.10:c.68049G>T (TTN)	ENSP00000340554.6:p.Trp22683Cys
ENST00000342992.10:c.86964G>T (TTN)	ENSP00000343764.6:p.Trp28988Cys
ENST00000359218.9:c.67848G>T (TTN)	ENSP00000352154.5:p.Trp22616Cys
ENST00000460472.6:c.67473G>T (TTN)	ENSP00000434586.1:p.Trp22491Cys
ENST00000589042.5:c.94668G>T (TTN) MANE Select	ENSP00000467141.1:p.Trp31556Cys
ENST00000591111.5:c.89745G>T (TTN)	ENSP00000465570.1:p.Trp29915Cys
ENST00000615779.4:c.89745G>T (TTN)	ENSP00000483597.1:p.Trp29915Cys
NM_001256850.1:c.89745G>T (TTN)	NP_001243779.1:p.Trp29915Cys
NM_001267550.2:c.94668G>T (TTN) MANE Select	NP_001254479.2:p.Trp31556Cys
NM_003319.4:c.67473G>T (TTN)	NP_003310.4:p.Trp22491Cys
NM_133378.4:c.86964G>T (TTN)	NP_596869.4:p.Trp28988Cys
NM_133432.3:c.67848G>T (TTN)	NP_597676.3:p.Trp22616Cys
NM_133437.4:c.68049G>T (TTN)	NP_597681.4:p.Trp22683Cys
NR_038271.1:n.446+23124C>A (TTN-AS1)
NR_038272.1:n.2043+4399C>A (TTN-AS1)
XM_011511729.1:c.93765G>T (TTN)	XP_011510031.1:p.Trp31255Cys
XM_011511730.1:c.67659G>T (TTN)	XP_011510032.1:p.Trp22553Cys
XM_011511731.1:c.67518G>T (TTN)	XP_011510033.1:p.Trp22506Cys
XM_017004819.1:c.93561G>T (TTN)	XP_016860308.1:p.Trp31187Cys
XM_017004820.1:c.88959G>T (TTN)	XP_016860309.1:p.Trp29653Cys
XM_017004821.1:c.88956G>T (TTN)	XP_016860310.1:p.Trp29652Cys
XM_017004822.1:c.85998G>T (TTN)	XP_016860311.1:p.Trp28666Cys
XM_017004823.1:c.67614G>T (TTN)	XP_016860312.1:p.Trp22538Cys
XM_024453094.1:c.89109G>T (TTN)	XP_024308862.1:p.Trp29703Cys
XM_024453095.1:c.89106G>T (TTN)	XP_024308863.1:p.Trp29702Cys
XM_024453096.1:c.88539G>T (TTN)	XP_024308864.1:p.Trp29513Cys
XM_024453097.1:c.85881G>T (TTN)	XP_024308865.1:p.Trp28627Cys
XM_024453098.1:c.85800G>T (TTN)	XP_024308866.1:p.Trp28600Cys
XM_024453099.1:c.67563G>T (TTN)	XP_024308867.1:p.Trp22521Cys
XM_024453100.1:c.57417G>T (TTN)	XP_024308868.1:p.Trp19139Cys