Canonical Allele Identifier: CA349488508

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179456614G>A (hg19) ; chr2:g.178591887G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178591887G>A , CM000664.2:g.178591887G>A	GRCh38
NC_000002.11:g.179456614G>A , CM000664.1:g.179456614G>A	GRCh37
NC_000002.10:g.179164860G>A	NCBI36
NG_011618.3:g.243916C>T , LRG_391:g.243916C>T
NG_051363.1:g.74061G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342992.11:c.52228C>T (TTN)	ENSP00000343764.6:p.Pro17410Ser
ENST00000342175.11:c.33313C>T (TTN)	ENSP00000340554.6:p.Pro11105Ser
ENST00000359218.10:c.33112C>T (TTN)	ENSP00000352154.5:p.Pro11038Ser
ENST00000342175.10:c.33313C>T (TTN)	ENSP00000340554.6:p.Pro11105Ser
ENST00000342992.10:c.52228C>T (TTN)	ENSP00000343764.6:p.Pro17410Ser
ENST00000359218.9:c.33112C>T (TTN)	ENSP00000352154.5:p.Pro11038Ser
ENST00000460472.6:c.32737C>T (TTN)	ENSP00000434586.1:p.Pro10913Ser
ENST00000589042.5:c.59932C>T (TTN) MANE Select	ENSP00000467141.1:p.Pro19978Ser
ENST00000591111.5:c.55009C>T (TTN)	ENSP00000465570.1:p.Pro18337Ser
ENST00000615779.4:c.55009C>T (TTN)	ENSP00000483597.1:p.Pro18337Ser
NM_001256850.1:c.55009C>T (TTN)	NP_001243779.1:p.Pro18337Ser
NM_001267550.2:c.59932C>T (TTN) MANE Select	NP_001254479.2:p.Pro19978Ser
NM_003319.4:c.32737C>T (TTN)	NP_003310.4:p.Pro10913Ser
NM_133378.4:c.52228C>T (TTN)	NP_596869.4:p.Pro17410Ser
NM_133432.3:c.33112C>T (TTN)	NP_597676.3:p.Pro11038Ser
NM_133437.4:c.33313C>T (TTN)	NP_597681.4:p.Pro11105Ser
NR_038271.1:n.597-5709G>A (TTN-AS1)
NR_038272.1:n.3364+573G>A (TTN-AS1)
XM_011511729.1:c.59029C>T (TTN)	XP_011510031.1:p.Pro19677Ser
XM_011511730.1:c.32923C>T (TTN)	XP_011510032.1:p.Pro10975Ser
XM_011511731.1:c.32782C>T (TTN)	XP_011510033.1:p.Pro10928Ser
XM_017004819.1:c.58825C>T (TTN)	XP_016860308.1:p.Pro19609Ser
XM_017004820.1:c.54223C>T (TTN)	XP_016860309.1:p.Pro18075Ser
XM_017004821.1:c.54220C>T (TTN)	XP_016860310.1:p.Pro18074Ser
XM_017004822.1:c.51262C>T (TTN)	XP_016860311.1:p.Pro17088Ser
XM_017004823.1:c.32878C>T (TTN)	XP_016860312.1:p.Pro10960Ser
XM_024453094.1:c.54373C>T (TTN)	XP_024308862.1:p.Pro18125Ser
XM_024453095.1:c.54370C>T (TTN)	XP_024308863.1:p.Pro18124Ser
XM_024453096.1:c.53803C>T (TTN)	XP_024308864.1:p.Pro17935Ser
XM_024453097.1:c.51145C>T (TTN)	XP_024308865.1:p.Pro17049Ser
XM_024453098.1:c.51064C>T (TTN)	XP_024308866.1:p.Pro17022Ser
XM_024453099.1:c.32827C>T (TTN)	XP_024308867.1:p.Pro10943Ser
XM_024453100.1:c.22681C>T (TTN)	XP_024308868.1:p.Pro7561Ser