Canonical Allele Identifier: CA349658680

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179439619G>A (hg19) ; chr2:g.178574892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178574892G>A , CM000664.2:g.178574892G>A	GRCh38
NC_000002.11:g.179439619G>A , CM000664.1:g.179439619G>A	GRCh37
NC_000002.10:g.179147865G>A	NCBI36
NG_011618.3:g.260911C>T , LRG_391:g.260911C>T
NG_051363.1:g.57066G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.63536C>T (TTN)	ENSP00000343764.6:p.Ser21179Phe
ENST00000342175.11:c.44621C>T (TTN)	ENSP00000340554.6:p.Ser14874Phe
ENST00000359218.10:c.44420C>T (TTN)	ENSP00000352154.5:p.Ser14807Phe
ENST00000342175.10:c.44621C>T (TTN)	ENSP00000340554.6:p.Ser14874Phe
ENST00000342992.10:c.63536C>T (TTN)	ENSP00000343764.6:p.Ser21179Phe
ENST00000359218.9:c.44420C>T (TTN)	ENSP00000352154.5:p.Ser14807Phe
ENST00000460472.6:c.44045C>T (TTN)	ENSP00000434586.1:p.Ser14682Phe
ENST00000589042.5:c.71240C>T (TTN) MANE Select	ENSP00000467141.1:p.Ser23747Phe
ENST00000591111.5:c.66317C>T (TTN)	ENSP00000465570.1:p.Ser22106Phe
ENST00000615779.4:c.66317C>T (TTN)	ENSP00000483597.1:p.Ser22106Phe
NM_001256850.1:c.66317C>T (TTN)	NP_001243779.1:p.Ser22106Phe
NM_001267550.2:c.71240C>T (TTN) MANE Select	NP_001254479.2:p.Ser23747Phe
NM_003319.4:c.44045C>T (TTN)	NP_003310.4:p.Ser14682Phe
NM_133378.4:c.63536C>T (TTN)	NP_596869.4:p.Ser21179Phe
NM_133432.3:c.44420C>T (TTN)	NP_597676.3:p.Ser14807Phe
NM_133437.4:c.44621C>T (TTN)	NP_597681.4:p.Ser14874Phe
NR_038271.1:n.596+3443G>A (TTN-AS1)
NR_038272.1:n.2044-7680G>A (TTN-AS1)
XM_011511729.1:c.70337C>T (TTN)	XP_011510031.1:p.Ser23446Phe
XM_011511730.1:c.44231C>T (TTN)	XP_011510032.1:p.Ser14744Phe
XM_011511731.1:c.44090C>T (TTN)	XP_011510033.1:p.Ser14697Phe
XM_017004819.1:c.70133C>T (TTN)	XP_016860308.1:p.Ser23378Phe
XM_017004820.1:c.65531C>T (TTN)	XP_016860309.1:p.Ser21844Phe
XM_017004821.1:c.65528C>T (TTN)	XP_016860310.1:p.Ser21843Phe
XM_017004822.1:c.62570C>T (TTN)	XP_016860311.1:p.Ser20857Phe
XM_017004823.1:c.44186C>T (TTN)	XP_016860312.1:p.Ser14729Phe
XM_024453094.1:c.65681C>T (TTN)	XP_024308862.1:p.Ser21894Phe
XM_024453095.1:c.65678C>T (TTN)	XP_024308863.1:p.Ser21893Phe
XM_024453096.1:c.65111C>T (TTN)	XP_024308864.1:p.Ser21704Phe
XM_024453097.1:c.62453C>T (TTN)	XP_024308865.1:p.Ser20818Phe
XM_024453098.1:c.62372C>T (TTN)	XP_024308866.1:p.Ser20791Phe
XM_024453099.1:c.44135C>T (TTN)	XP_024308867.1:p.Ser14712Phe
XM_024453100.1:c.33989C>T (TTN)	XP_024308868.1:p.Ser11330Phe