Canonical Allele Identifier: CA349581117

Gene: TTN TTN-AS1

Linked Data

• MyVariant Identifiers: chr2:g.179429240C>A (hg19) ; chr2:g.178564513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178564513C>A , CM000664.2:g.178564513C>A	GRCh38
NC_000002.11:g.179429240C>A , CM000664.1:g.179429240C>A	GRCh37
NC_000002.10:g.179137486C>A	NCBI36
NG_011618.3:g.271290G>T , LRG_391:g.271290G>T
NG_051363.1:g.46687C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.73915G>T (TTN)	ENSP00000343764.6:p.Val24639Leu
ENST00000342175.11:c.55000G>T (TTN)	ENSP00000340554.6:p.Val18334Leu
ENST00000359218.10:c.54799G>T (TTN)	ENSP00000352154.5:p.Val18267Leu
ENST00000342175.10:c.55000G>T (TTN)	ENSP00000340554.6:p.Val18334Leu
ENST00000342992.10:c.73915G>T (TTN)	ENSP00000343764.6:p.Val24639Leu
ENST00000359218.9:c.54799G>T (TTN)	ENSP00000352154.5:p.Val18267Leu
ENST00000460472.6:c.54424G>T (TTN)	ENSP00000434586.1:p.Val18142Leu
ENST00000589042.5:c.81619G>T (TTN) MANE Select	ENSP00000467141.1:p.Val27207Leu
ENST00000591111.5:c.76696G>T (TTN)	ENSP00000465570.1:p.Val25566Leu
ENST00000615779.4:c.76696G>T (TTN)	ENSP00000483597.1:p.Val25566Leu
NM_001256850.1:c.76696G>T (TTN)	NP_001243779.1:p.Val25566Leu
NM_001267550.2:c.81619G>T (TTN) MANE Select	NP_001254479.2:p.Val27207Leu
NM_003319.4:c.54424G>T (TTN)	NP_003310.4:p.Val18142Leu
NM_133378.4:c.73915G>T (TTN)	NP_596869.4:p.Val24639Leu
NM_133432.3:c.54799G>T (TTN)	NP_597676.3:p.Val18267Leu
NM_133437.4:c.55000G>T (TTN)	NP_597681.4:p.Val18334Leu
NR_038271.1:n.447-6787C>A (TTN-AS1)
NR_038272.1:n.2044-18059C>A (TTN-AS1)
XM_011511729.1:c.80716G>T (TTN)	XP_011510031.1:p.Val26906Leu
XM_011511730.1:c.54610G>T (TTN)	XP_011510032.1:p.Val18204Leu
XM_011511731.1:c.54469G>T (TTN)	XP_011510033.1:p.Val18157Leu
XM_017004819.1:c.80512G>T (TTN)	XP_016860308.1:p.Val26838Leu
XM_017004820.1:c.75910G>T (TTN)	XP_016860309.1:p.Val25304Leu
XM_017004821.1:c.75907G>T (TTN)	XP_016860310.1:p.Val25303Leu
XM_017004822.1:c.72949G>T (TTN)	XP_016860311.1:p.Val24317Leu
XM_017004823.1:c.54565G>T (TTN)	XP_016860312.1:p.Val18189Leu
XM_024453094.1:c.76060G>T (TTN)	XP_024308862.1:p.Val25354Leu
XM_024453095.1:c.76057G>T (TTN)	XP_024308863.1:p.Val25353Leu
XM_024453096.1:c.75490G>T (TTN)	XP_024308864.1:p.Val25164Leu
XM_024453097.1:c.72832G>T (TTN)	XP_024308865.1:p.Val24278Leu
XM_024453098.1:c.72751G>T (TTN)	XP_024308866.1:p.Val24251Leu
XM_024453099.1:c.54514G>T (TTN)	XP_024308867.1:p.Val18172Leu
XM_024453100.1:c.44368G>T (TTN)	XP_024308868.1:p.Val14790Leu