Canonical Allele Identifier: CA349600532

Gene: TTN TTN-AS1

Linked Data

• dbSNP Id: rs1706230914
• MyVariant Identifiers: chr2:g.179431925G>A (hg19) ; chr2:g.178567198G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.178567198G>A , CM000664.2:g.178567198G>A	GRCh38
NC_000002.11:g.179431925G>A , CM000664.1:g.179431925G>A	GRCh37
NC_000002.10:g.179140171G>A	NCBI36
NG_011618.3:g.268605C>T , LRG_391:g.268605C>T
NG_051363.1:g.49372G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342992.11:c.71230C>T (TTN)	ENSP00000343764.6:p.Leu23744Phe
ENST00000342175.11:c.52315C>T (TTN)	ENSP00000340554.6:p.Leu17439Phe
ENST00000359218.10:c.52114C>T (TTN)	ENSP00000352154.5:p.Leu17372Phe
ENST00000342175.10:c.52315C>T (TTN)	ENSP00000340554.6:p.Leu17439Phe
ENST00000342992.10:c.71230C>T (TTN)	ENSP00000343764.6:p.Leu23744Phe
ENST00000359218.9:c.52114C>T (TTN)	ENSP00000352154.5:p.Leu17372Phe
ENST00000460472.6:c.51739C>T (TTN)	ENSP00000434586.1:p.Leu17247Phe
ENST00000589042.5:c.78934C>T (TTN) MANE Select	ENSP00000467141.1:p.Leu26312Phe
ENST00000591111.5:c.74011C>T (TTN)	ENSP00000465570.1:p.Leu24671Phe
ENST00000615779.4:c.74011C>T (TTN)	ENSP00000483597.1:p.Leu24671Phe
NM_001256850.1:c.74011C>T (TTN)	NP_001243779.1:p.Leu24671Phe
NM_001267550.2:c.78934C>T (TTN) MANE Select	NP_001254479.2:p.Leu26312Phe
NM_003319.4:c.51739C>T (TTN)	NP_003310.4:p.Leu17247Phe
NM_133378.4:c.71230C>T (TTN)	NP_596869.4:p.Leu23744Phe
NM_133432.3:c.52114C>T (TTN)	NP_597676.3:p.Leu17372Phe
NM_133437.4:c.52315C>T (TTN)	NP_597681.4:p.Leu17439Phe
NR_038271.1:n.447-4102G>A (TTN-AS1)
NR_038272.1:n.2044-15374G>A (TTN-AS1)
XM_011511729.1:c.78031C>T (TTN)	XP_011510031.1:p.Leu26011Phe
XM_011511730.1:c.51925C>T (TTN)	XP_011510032.1:p.Leu17309Phe
XM_011511731.1:c.51784C>T (TTN)	XP_011510033.1:p.Leu17262Phe
XM_017004819.1:c.77827C>T (TTN)	XP_016860308.1:p.Leu25943Phe
XM_017004820.1:c.73225C>T (TTN)	XP_016860309.1:p.Leu24409Phe
XM_017004821.1:c.73222C>T (TTN)	XP_016860310.1:p.Leu24408Phe
XM_017004822.1:c.70264C>T (TTN)	XP_016860311.1:p.Leu23422Phe
XM_017004823.1:c.51880C>T (TTN)	XP_016860312.1:p.Leu17294Phe
XM_024453094.1:c.73375C>T (TTN)	XP_024308862.1:p.Leu24459Phe
XM_024453095.1:c.73372C>T (TTN)	XP_024308863.1:p.Leu24458Phe
XM_024453096.1:c.72805C>T (TTN)	XP_024308864.1:p.Leu24269Phe
XM_024453097.1:c.70147C>T (TTN)	XP_024308865.1:p.Leu23383Phe
XM_024453098.1:c.70066C>T (TTN)	XP_024308866.1:p.Leu23356Phe
XM_024453099.1:c.51829C>T (TTN)	XP_024308867.1:p.Leu17277Phe
XM_024453100.1:c.41683C>T (TTN)	XP_024308868.1:p.Leu13895Phe