Canonical Allele Identifier: CA349593310

Gene: TTN TTN-AS1

Linked Data

• COSMIC: COSM718499 ; COSM718500 ; COSM718501 ; COSM1148543
• MyVariant Identifiers: chr2:g.179431000G>T (hg19) ; chr2:g.178566273G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178566273G>T , CM000664.2:g.178566273G>T	GRCh38
NC_000002.11:g.179431000G>T , CM000664.1:g.179431000G>T	GRCh37
NC_000002.10:g.179139246G>T	NCBI36
NG_011618.3:g.269530C>A , LRG_391:g.269530C>A
NG_051363.1:g.48447G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.72155C>A (TTN)	ENSP00000343764.6:p.Pro24052Gln
ENST00000342175.11:c.53240C>A (TTN)	ENSP00000340554.6:p.Pro17747Gln
ENST00000359218.10:c.53039C>A (TTN)	ENSP00000352154.5:p.Pro17680Gln
ENST00000342175.10:c.53240C>A (TTN)	ENSP00000340554.6:p.Pro17747Gln
ENST00000342992.10:c.72155C>A (TTN)	ENSP00000343764.6:p.Pro24052Gln
ENST00000359218.9:c.53039C>A (TTN)	ENSP00000352154.5:p.Pro17680Gln
ENST00000460472.6:c.52664C>A (TTN)	ENSP00000434586.1:p.Pro17555Gln
ENST00000589042.5:c.79859C>A (TTN) MANE Select	ENSP00000467141.1:p.Pro26620Gln
ENST00000591111.5:c.74936C>A (TTN)	ENSP00000465570.1:p.Pro24979Gln
ENST00000615779.4:c.74936C>A (TTN)	ENSP00000483597.1:p.Pro24979Gln
NM_001256850.1:c.74936C>A (TTN)	NP_001243779.1:p.Pro24979Gln
NM_001267550.2:c.79859C>A (TTN) MANE Select	NP_001254479.2:p.Pro26620Gln
NM_003319.4:c.52664C>A (TTN)	NP_003310.4:p.Pro17555Gln
NM_133378.4:c.72155C>A (TTN)	NP_596869.4:p.Pro24052Gln
NM_133432.3:c.53039C>A (TTN)	NP_597676.3:p.Pro17680Gln
NM_133437.4:c.53240C>A (TTN)	NP_597681.4:p.Pro17747Gln
NR_038271.1:n.447-5027G>T (TTN-AS1)
NR_038272.1:n.2044-16299G>T (TTN-AS1)
XM_011511729.1:c.78956C>A (TTN)	XP_011510031.1:p.Pro26319Gln
XM_011511730.1:c.52850C>A (TTN)	XP_011510032.1:p.Pro17617Gln
XM_011511731.1:c.52709C>A (TTN)	XP_011510033.1:p.Pro17570Gln
XM_017004819.1:c.78752C>A (TTN)	XP_016860308.1:p.Pro26251Gln
XM_017004820.1:c.74150C>A (TTN)	XP_016860309.1:p.Pro24717Gln
XM_017004821.1:c.74147C>A (TTN)	XP_016860310.1:p.Pro24716Gln
XM_017004822.1:c.71189C>A (TTN)	XP_016860311.1:p.Pro23730Gln
XM_017004823.1:c.52805C>A (TTN)	XP_016860312.1:p.Pro17602Gln
XM_024453094.1:c.74300C>A (TTN)	XP_024308862.1:p.Pro24767Gln
XM_024453095.1:c.74297C>A (TTN)	XP_024308863.1:p.Pro24766Gln
XM_024453096.1:c.73730C>A (TTN)	XP_024308864.1:p.Pro24577Gln
XM_024453097.1:c.71072C>A (TTN)	XP_024308865.1:p.Pro23691Gln
XM_024453098.1:c.70991C>A (TTN)	XP_024308866.1:p.Pro23664Gln
XM_024453099.1:c.52754C>A (TTN)	XP_024308867.1:p.Pro17585Gln
XM_024453100.1:c.42608C>A (TTN)	XP_024308868.1:p.Pro14203Gln