Canonical Allele Identifier: CA349406178

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179395032G>A (hg19) ; chr2:g.178530305G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178530305G>A , CM000664.2:g.178530305G>A	GRCh38
NC_000002.11:g.179395032G>A , CM000664.1:g.179395032G>A	GRCh37
NC_000002.10:g.179103278G>A	NCBI36
NG_011618.3:g.305498C>T , LRG_391:g.305498C>T
NG_051363.1:g.12479G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.98606C>T (TTN)	ENSP00000343764.6:p.Ala32869Val
ENST00000342175.11:c.79691C>T (TTN)	ENSP00000340554.6:p.Ala26564Val
ENST00000359218.10:c.79490C>T (TTN)	ENSP00000352154.5:p.Ala26497Val
ENST00000342175.10:c.79691C>T (TTN)	ENSP00000340554.6:p.Ala26564Val
ENST00000342992.10:c.98606C>T (TTN)	ENSP00000343764.6:p.Ala32869Val
ENST00000359218.9:c.79490C>T (TTN)	ENSP00000352154.5:p.Ala26497Val
ENST00000460472.6:c.79115C>T (TTN)	ENSP00000434586.1:p.Ala26372Val
ENST00000589042.5:c.106310C>T (TTN) MANE Select	ENSP00000467141.1:p.Ala35437Val
ENST00000591111.5:c.101387C>T (TTN)	ENSP00000465570.1:p.Ala33796Val
ENST00000615779.4:c.101387C>T (TTN)	ENSP00000483597.1:p.Ala33796Val
NM_001256850.1:c.101387C>T (TTN)	NP_001243779.1:p.Ala33796Val
NM_001267550.2:c.106310C>T (TTN) MANE Select	NP_001254479.2:p.Ala35437Val
NM_003319.4:c.79115C>T (TTN)	NP_003310.4:p.Ala26372Val
NM_133378.4:c.98606C>T (TTN)	NP_596869.4:p.Ala32869Val
NM_133432.3:c.79490C>T (TTN)	NP_597676.3:p.Ala26497Val
NM_133437.4:c.79691C>T (TTN)	NP_597681.4:p.Ala26564Val
NR_038271.1:n.446+6669G>A (TTN-AS1)
NR_038272.1:n.220-5427G>A (TTN-AS1)
XM_011511729.1:c.105407C>T (TTN)	XP_011510031.1:p.Ala35136Val
XM_011511730.1:c.79301C>T (TTN)	XP_011510032.1:p.Ala26434Val
XM_011511731.1:c.79160C>T (TTN)	XP_011510033.1:p.Ala26387Val
XM_017004819.1:c.105203C>T (TTN)	XP_016860308.1:p.Ala35068Val
XM_017004820.1:c.100601C>T (TTN)	XP_016860309.1:p.Ala33534Val
XM_017004821.1:c.100598C>T (TTN)	XP_016860310.1:p.Ala33533Val
XM_017004822.1:c.97640C>T (TTN)	XP_016860311.1:p.Ala32547Val
XM_017004823.1:c.79256C>T (TTN)	XP_016860312.1:p.Ala26419Val
XM_024453094.1:c.100751C>T (TTN)	XP_024308862.1:p.Ala33584Val
XM_024453095.1:c.100748C>T (TTN)	XP_024308863.1:p.Ala33583Val
XM_024453096.1:c.100181C>T (TTN)	XP_024308864.1:p.Ala33394Val
XM_024453097.1:c.97523C>T (TTN)	XP_024308865.1:p.Ala32508Val
XM_024453098.1:c.97442C>T (TTN)	XP_024308866.1:p.Ala32481Val
XM_024453099.1:c.79205C>T (TTN)	XP_024308867.1:p.Ala26402Val
XM_024453100.1:c.69059C>T (TTN)	XP_024308868.1:p.Ala23020Val